SNP_id Chrom Coord_hg38 Strand RefAllele AltAllele MAF Transcripts GeneId GeneName Novelty TranscriptRegion RefCodon AltCodon RefAA AltAA AAchange Source StrongestPval StrongestZscore StrongestTrait Abbreviation Pvals Zscores Traits Conservation Mouse GENCODE M18 annotation Non-murine representative model or genome coordinates (START-STOP) Human short-read data expression Mouse short read-data expression Contemporary RefSeq annotation Bicistronic? HGNC gene symbol Comments rs190293462 chr17 28717649 - T C 0.00139776 ENST00000580843.6 ENSG00000109113 RAB34 NP/NM match SPLICE UK Biobank 6.11e-15 7.80168 Underlying (primary) cause of death: ICD10: U50.9 Inquest Adjourned Death Inquest death 6.11E-15 7.80168 Underlying (primary) cause of death: ICD10: U50.9 Inquest Adjourned Death mammals known coding gene ENSMUSG00000002059 / all sources support general expression all sources support general expression coding NM_001256281 contranscribed with RAB34 RAB34 Transcribed from an alternative TSS within the RAB34 locus, having a substantial overlap with the RAB34 CDS though in an alternative frame. Identified and confirmed as functionally distinct in 2011, where the protein was unofficially named NARR (PMID:21586586). rs748050854 chr13 51816941 - C T NA ENST00000629372.2 ENSG00000281106 RP11-327P2.7 New discovery CDS TGG TAG W * Nonsense UK Biobank 1.94e-09 6.00273 Underlying (primary) cause of death: ICD10: J18.1 Lobar pneumonia, unspecified Lobar pneumonia 1.94E-09 6.00273 Underlying (primary) cause of death: ICD10: J18.1 Lobar pneumonia, unspecified avians; potential ortholog in fish without synteny, e.g zebrafish OTTDARG00000042329 absent; apparently lost in rodents chicken LongAUGORFlinc|3PO|XLOC_009333|TCONS_00025932:1.79557|220AA|187AA||Pfam_1_doms|RNACode|HSS_689_1.0E-16 CAGE supports expression in brain, although almost entirely limited to caudate nucleus and putamen; HPA supports expression in most tissues, especially duodenom, small intestine and appendix; Intropolis is dominated by blood expression (e.g. SRR976769), and Blueprint supports expression in innate immune cells especially / ncRNA NR_027047 (LINC00282) TMEM272 Transmembrane domain-containing protein. rs149679789 chr9 35304109 + C T NA ENST00000635942.1 ENSG00000198722 UNC13B New CDS in existing coding gene CDS CAG TAG Q * Nonsense UK Biobank 6.38867539934e-10 6.18053 Underlying (primary) cause of death: ICD10: V49.9 Car occupant [any] injured in unspecified traffic accident Traffic 7.28460730618423e-10; 6.38867539934125e-10 6.15978; 6.18053 Underlying (primary) cause of death: ICD10: I38 Endocarditis, valve unspecified; Underlying (primary) cause of death: ICD10: V49.9 Car occupant [any] injured in unspecified traffic accident rs533800545 chr7 90319498 - G A 0.000199681 ENST00000637645.1 ENSG00000283267 CTB-16J4.1 New discovery CDS CCT CTT P L Missense UK Biobank 2.08e-28 11.0547 Underlying (primary) cause of death: ICD10: I25.5 Ischaemic cardiomyopathy Cardiomyopathy 2.08E-28 11.0547 Underlying (primary) cause of death: ICD10: I25.5 Ischaemic cardiomyopathy avians previously undescribed coding gene ENSMUSG00000073234 ground tit XP_005518842.1 no CAGE; HPA supports testis expression; Intropolis shows strong expression in a series of experiments on preovulatory cumulus and mural granulosa cells, which are associated with developing oocytes (e.g. SRR836179) weak CAGE; ENCODE RNAseq show high brain / CNS expression, and also placenta absent FAM237B Uncharacterised protein. It has clear homology to human FAM237A (LOC200726) on chr2, which is also on this list. rs117194773 chr9 137218432 + C A 0.0461262 ENST00000645271.1 ENSG00000284976 RP13-122B23.13 New discovery CDS CCA ACA P T Missense UK Biobank 5.32750777623e-17 8.37923 Diagnoses - main ICD10: D46 Myelodysplastic syndromes Myelodysplastic 1.03395264771436e-12; 6.64149194063025e-13; 5.32750777623442e-17 7.12591; 7.18662; 8.37923 Treatment/medication code: care cetirizine hayfever relief 10mg tablet; Underlying (primary) cause of death: ICD10: G90.3 Multisystem degeneration; Diagnoses - main ICD10: D46 Myelodysplastic syndromes avians previously undescribed coding gene ENSMUSG00000115018 chicken AUGUSTUS g10876.t1 CAGE supports esophagus, tonsil, tongue, testis expression; HPA shows general expression, though likely includes readthrough transcription from NDOR1 upstream so hard to interpret; no introns for Intropolis CAGE supports stomach, skin, ileum, vesicular gland, gastrointestinal tissues expression; ENCODE RNAseq likely includes readthrough transcription from Ndor1, although transcription in stomach notable increases at the CAGE region absent BX255925.3 RING finger protein. The initiation codon has not been defined with confidence, i.e. based on conservation. This could suggest the PhyloCSF signal actually finds an alternative final exon of NDOR1, found a short distance upstream. However, several lines of evidence argue against this: (1) there is no support for splicing between the two loci in human, and while mouse does contain connections these are weakly supported, only incorporate part of the PhyloCSF signal and are poorly conserved; (2) the CAGE region of the novel locus is conserved between human and mouse, and in human it colocalises with rich TF-binding data; (3) there is no expectation that NDOR1 – an oxireductase metabolic enzyme – would utilise a RING finger domain; (4) there are multiple RING finger loci in the region, which presumably represent a series of ancient duplications. The possibility that this locus is a pseudogene cannot be ruled out, although its age argues against this. The 5' of the PhloCSF signal corresponds to the edge of a sharp signal in multiz, which corresponds to an in-frame [GAG]. The human model could was constructed with an [ATG] a short distance upstream, which is listed here. Nonetheless, it is possible the locus uses a non-ATG initiation codon. rs150684613 chr19 56302025 + C T 0.000599042 ENST00000637802.1 ENSG00000267710 EDDM13 New discovery CDS ACG ATG T M Missense UK Biobank 2.66399884705e-14 7.61368 Underlying (primary) cause of death: ICD10: E14.9 Without complications No complications 2.66399884704687e-14; 6.76395267304414e-11; 1.37064080396124e-09 7.61368; 6.5258; 6.05889 Underlying (primary) cause of death: ICD10: E14.9 Without complications; Underlying (primary) cause of death: ICD10: V49.9 Car occupant [any] injured in unspecified traffic accident; Underlying (primary) cause of death: ICD10: X70.8 Other specified place mammals known coding gene ENSMUSG00000053367 / CAGE supports epididymis expression; no HPA; Intropolis supports expression in early embryogenesis (e.g. SRR893051) CAGE supports epididymis expression; no ENCODE RNAseq XR_001754018.1 (LOC100506374); partial match EDDM13 Uncharacterised protein. Eleven of the coding exons are micro-exons, i.e. under 30bp in size; PhyloCSF produced a signal across 4 of them. This transcript was included in GENCODEv27, mistakenly removed in v28 and reinstated in v29 with the new ID ENST00000649256. rs35943454 chr8 10498662 - G T 0.222045 ENST00000636217.1;ENST00000647010.1 ENSG00000253649 PRSS51 New discovery CDS CAT AAT H N Missense UK Biobank 3.14496610651e-13 7.28804 Heel bone mineral density (BMD) T-score, automated (right) Bone density 3.57247017250134e-08; 1.62570793213096e-08; 5.03188654808605e-08; 4.9301744061271e-13; 3.14496610650622e-13; 2.20622903197796e-11 -5.51078; -5.64774; -5.45018; 7.22721; 7.28804; 6.69168 Neuroticism score; Impedance of whole body; Impedance of leg (left); Heel bone mineral density (BMD) T-score, automated (left); Heel bone mineral density (BMD) T-score, automated (right); Heel bone mineral density (BMD) T-score, automated mammals known coding gene ENSMUSG00000052099 / very weak CAGE; HPA supports testis expression; the topped ranked Intropolis introns are from cell lines, but there is also early embryo expression (e.g. SRR893067). all sources support testis expression absent PRSS51 Protease, serine family member. Human has a premature termination codon in the final exon, giving a shorter protein compared to other mammals including apes (the truncation is 23aa versus the mouse CDS). However, this termination is found downstream of the trypsin domain, and additional confidence in the coding potential of the human locus comes from mass spectromtery support. rs554234544 chr9 32552880 + A G 0.000199681 ENST00000450093.2;ENST00000453396.5 ENSG00000235453 RP11-205M20.3 New discovery CDS AAG AGG K R Missense UK Biobank 4.95e-13 7.22669 Underlying (primary) cause of death: ICD10: I73.9 Peripheral vascular disease, unspecified Vascular disease 4.95E-13 7.22669 Underlying (primary) cause of death: ICD10: I73.9 Peripheral vascular disease, unspecified coelacanth previously undescribed coding gene ENSMUSG00000028407 coelacanth linc|3P|XLOC_149553|TCONS_00193392:1.03778|96AA|53AA| all sources support general expression all sources support general expression ncRNA NR_033991.1 SMIM27 Small integral membrane protein, previously known as TOPORS-AS1. rs543814502 chr14 23100550 - G A NA ENST00000637218.1;ENST00000642668.1;ENST00000644000.1 ENSG00000283654 RP11-244E17.1 New discovery CDS CCC CTC P L Missense UK Biobank 1.99e-12 7.03501 Underlying (primary) cause of death: ICD10: C10.9 Oropharynx, unspecified Oropharynx 1.99E-12 7.03501 Underlying (primary) cause of death: ICD10: C10.9 Oropharynx, unspecified vertebrates previously undescribed coding gene ENSMUSG00000114865 zebrafish OTTDARG00000043717 CAGE support limited to tetracarcinoma; no HPA; Intropolis has low scores, with the highest score in retina (SRR548611) alongside evidence of embyro and brain expression no CAGE; ENCODE RNAseq has weak support in brain / CNS, liver and testis 'unknown' XR_944274.1 LMLN2 Peptidase family member. The RefSeq non-coding model is based on a cDNA with a retained intron (BC153822). rs13153461 chr5 139472784 + G A 0.434305 ENST00000637503.1 ENSG00000283288 AC138517.6 New discovery CDS GGC AGC G S Missense UK Biobank 2.82009165686e-12 -6.98641 Trunk fat-free mass Fat-free mass 4.79012553522591e-08; 4.90303780601832e-09; 3.69397843554691e-11; 2.78221461694641e-11; 1.65690597442933e-10; 4.44071819374235e-09; 3.31311478960812e-09; 2.42754908291748e-08; 4.47478045302557e-08; 3.36943586278222e-10; 1.07215894210958e-10; 7.23948472963602e-11; 6.27231132601905e-11; 2.82009165685827e-12; 5.79664188421307e-12; 3.11481247900773e-09 -5.45893; -5.85043; -6.61586; -6.65766; -6.39018; -5.86688; -5.91528; -5.57839; -5.47101; -6.28075; -6.45641; -6.51561; -6.5371; -6.98641; -6.88456; -5.92543 Comparative height size at age 10; Sitting height; Whole body fat-free mass; Whole body water mass; Basal metabolic rate; Leg fat-free mass (right); Leg predicted mass (right); Leg fat-free mass (left); Leg predicted mass (left); Arm fat-free mass (right); Arm predicted mass (right); Arm fat-free mass (left); Arm predicted mass (left); Trunk fat-free mass; Trunk predicted mass; Standing height avians known coding gene ENSMUSG00000073598 chicken XP_004944821 no CAGE; HPA and Intropolis are dominated by gastrointestinal tissues, with evidence of weaker expression in other organs CAGE and ENCODE RNAseq are dominated by gastrointestinal expression absent SMIM33 Member of the small integral membrane protein family. rs139251237 chr17 4802301 - A T 0.00159744 ENST00000635921.1 ENSG00000262165 RP11-81A22.5 New discovery CDS TGG AGG W R Missense UK Biobank 9.04e-11 6.48211 Underlying (primary) cause of death: ICD10: K55.9 Vascular disorder of intestine, unspecified Intestine 9.04E-11 6.48211 Underlying (primary) cause of death: ICD10: K55.9 Vascular disorder of intestine, unspecified coelacanth previously undescribed coding gene ENSMUSG00000109833 coelacanth AUGUSTUS g10900.t1 all sources support only weak expression in cancer experiments and cell lines no CAGE: ENCODE RNAseq supports very low expression in brain and limb absent AC233723.1 Uncharacterised protein. While there is very little evidence for the expression of the first coding exon in human, there is an alternative first exon that is divergently transcribed from the PLD2 promoter region at appreciable levels. This alternative transcript is likely not protein-coding. The paucity of transcript evidence in human and mouse may call the functionality of the gene into question. However, given the depth of conservation across vertebrates, and the fact that there at least some support for the splice junction in both species, it was decided to annotate the gene in both species as protein-coding. rs558532070 chr9 120799608 + C T NA ENST00000464488.3 ENSG00000214654 RP11-27I1.4 New discovery CDS ACG ATG T M Missense UK Biobank 2.46755110444e-10 6.329 Treatment/medication code: becloforte 250micrograms inhaler Becloforte 2.46755110443754e-10; 3.91133650847778e-09; 4.64684623788165e-08 6.329; 5.8879; 5.46432 Treatment/medication code: becloforte 250micrograms inhaler; Treatment/medication code: cialis 20mg tablet; Underlying (primary) cause of death: ICD10: K70.3 Alcoholic cirrhosis of liver mammals; potential ortholog seen in avians: e.g. chicken B3GNTL2, with partial syntenty (PSDM5 flank) previously undescribed coding gene ENSMUSG00000107167 / CAGE supports weak expression in cell lines and cancer experiments; however, alternative transcript ENST00000437707 skips coding exon 1 with high general expression in HPA; Intropolis finds weak support for coding intron 1, limited to cell lines and cancer experiments No CAGE; ENCODE RNAseq is limited to liver (support was also found in liver PacBio capture-seq experiments) NR_027442.1 (LOC100288842) B3GNT10 Galactosyltransferase superfamily member. The human cDNA and EST evidence - and the vast bulk of RNAseq evidence - supports an alternative first exon that does not contain the initiation codon. This may be why the locus was previously annotated as a pseudogene fragment. Just two codons are present on this first coding exon; there is no PhyloCSF signal here, although the [ATG] is found in all therian mammals. This locus could be pseudogenised in human, or potentially it could be translated with a truncated N-terminus, i.e. using an [ATG] in coding exon 2. Nonetheless, it was annotated as a protein-coding locus in human because there is evidence for the transcription of coding exon 1, albeit limited. rs554469412 chr11 62832461 - C A 0.000798722 ENST00000636508.1 ENSG00000283268 RP11-727F15.14 New discovery CDS CGG CTG R L Missense UK Biobank 1.93e-09 6.0034 Underlying (primary) cause of death: ICD10: K56.6 Other and unspecified intestinal obstruction Intestinal obstruction 1.93E-09 6.0034 Underlying (primary) cause of death: ICD10: K56.6 Other and unspecified intestinal obstruction mammals known coding gene ENSMUSG00000090840 / CAGE supports macrophage expression in a small number of experiments; HPA supports testis and bone marrow expression, although BLUEPRINT finds only weak expression in blood cells; no introns for Intropolis all sources support testis expression absent TEX54 Uncharacterised CDS. The locus apparently lost its single intron in primates. It is found within a small genomic region between WDR74 and STX5 on the same strand, and although it is clearly distinct from the latter it does have limited readthrough transcription evidence from the former. Nonetheless it seems most likely to be a separate coding gene in human and mouse due to CAGE support and its high specificity to testis, which is not seen for WDR74. Evidence for translation in testis has been observed in the HPP mass spectromery datasets, which included PhyloCSF in the search space. This data had not been previously considered strong enough to support CDS annotation in isolation. rs556302772 chr19 55463762 - C T 0.00239617 ENST00000635964.1 ENSG00000283567 CTD-2537I9.19 New discovery CDS GAC AAC D N Missense UK Biobank 2.36237788145e-09 5.9707 Treatment/medication code: budesonide+formoterol Budesonide+formoterol 9.0733385134568e-09; 2.36237788145071e-09 5.7472; 5.9707 Non-cancer illness code, self-reported: blepharitis / eyelid infection; Treatment/medication code: budesonide+formoterol mammals; potential ortholog in fish without synteny, e.g. tetraodon CAF97887 previously undescribed coding gene ENSMUSG00000110221 / CAGE supports testicular germ cell embryonal cancer and embryonic stem cell expression; no HPA; Intropolis supports stem cell expression, especially embryonic (e.g. SRR488685) no CAGE; weak ENCODE RNAseq support for brain expression absent C19orf85 Uncharacterised protein. rs2287963 chr5 136192217 - A G 0.367412 ENST00000607574.1 ENSG00000271824 AC009014.3 New discovery CDS GTG GCG V A Missense UK Biobank 6.33e-09 5.8078 Sleeplessness / insomnia Insomnia 6.33E-09 5.8078 Sleeplessness / insomnia vertebrates previously undescribed coding gene ENSMUSG00000110086 zebrafish OTTDARG00000044227 CAGE supports expression in kindey and gastrointestinal tissues, and also brain; HPA finds highest expression in gastrointestinal tissues but also expression in brain, kidney, prostate; no introns for Intropolis CAGE finds highest expression in pancreas, though is otherwise dominated by brain experiments; ENCODE RNAseq is dominated by brain expression, alongside certain gastrointestinal tissues and limb ncRNA NR_024418.1 (LOC389332) SMIM32 Member of the small integral membrane protein family. rs768642071 chr19 3483252 - G A NA ENST00000641816.1 ENSG00000284638 AC005787.5 New discovery CDS GCC GTC A V Missense UK Biobank 1.08e-08 5.71807 Underlying (primary) cause of death: ICD10: D43.2 Brain, unspecified Brain 1.08E-08 5.71807 Underlying (primary) cause of death: ICD10: D43.2 Brain, unspecified avians; potential ortholog in vertebrates without synteny, e.g. zebrafish OTTDARG00000037948 previously undescribed coding gene ENSMUSG00000078440 / CAGE supports retina expression; weak HPA; Intropolis also supports retina epxression (SRR548613), although the highest scores are in fetal intestine (SRR643742) CAGE supports eyeball; while ENCODE RNAseq suggests general expression, this is likely confounded by readthrough transcription from Dohh found 5' adjacent as these read coverages highlight a splice donor site only utilised in the readthrough model absent AC005551.1 Uncharacterised protein. While the CDS is incorporated into transcripts that are shared with Dohh in mouse, the novel CDS also has its own TSS. A series of mouse ESTs begin at this TSS, all of which are from eye experiments e.g. CK628151. rs12115750 chr9 120799578 + C A 0.0938498 ENST00000464488.3 ENSG00000214654 RP11-27I1.4 New discovery CDS TCC TAC S Y Missense UK Biobank 1.23e-08 5.69502 Standing height Height 1.23E-08 5.69502 Standing height mammals; potential ortholog seen in avians: e.g. chicken B3GNTL2, with partial syntenty (PSDM5 flank) previously undescribed coding gene ENSMUSG00000107167 / CAGE supports weak expression in cell lines and cancer experiments; however, alternative transcript ENST00000437707 skips coding exon 1 with high general expression in HPA; Intropolis finds weak support for coding intron 1, limited to cell lines and cancer experiments No CAGE; ENCODE RNAseq is limited to liver (support was also found in liver PacBio capture-seq experiments) NR_027442.1 (LOC100288842) B3GNT10 Galactosyltransferase superfamily member. The human cDNA and EST evidence - and the vast bulk of RNAseq evidence - supports an alternative first exon that does not contain the initiation codon. This may be why the locus was previously annotated as a pseudogene fragment. Just two codons are present on this first coding exon; there is no PhyloCSF signal here, although the [ATG] is found in all therian mammals. This locus could be pseudogenised in human, or potentially it could be translated with a truncated N-terminus, i.e. using an [ATG] in coding exon 2. Nonetheless, it was annotated as a protein-coding locus in human because there is evidence for the transcription of coding exon 1, albeit limited. rs369081494 chr2 227614657 - C T 0.000399361 ENST00000642029.1 ENSG00000284704 RP11-90L9.3 New discovery CDS GGC AGC G S Missense UK Biobank 1.8e-08 5.63025 Diagnoses - main ICD10: N49 Inflammatory disorders of male genital organs, not elsewhere classified Male genital 1.80E-08 5.63025 Diagnoses - main ICD10: N49 Inflammatory disorders of male genital organs, not elsewhere classified there is a cluster in mammals with conserved synteny, though 1:1 orthologs cannot be deduced with confidence see above / no data / absent SCYGR3 Small cysteine and glycine repeat containing family member, with prospective similarity to keratin associated proteins. The accuracy of the underlying genomic alignments may be suspect, leading to spurious PhyloCSF signals (see main text). rs117917191 chr7 45863158 - C T 0.000599042 ENST00000636578.2 ENSG00000283247 RP11-638I8.1 New discovery CDS CGA CAA R Q Missense UK Biobank 1.87799861841e-08 5.62288 Treatment/medication code: synalar 1:10 cream Synalar 1.87799861840663e-08; 2.27842417015508e-08 5.62288; 5.58941 Treatment/medication code: synalar 1:10 cream; Underlying (primary) cause of death: ICD10: C02.9 Tongue, unspecified avians previously undescribed coding gene ENSMUSG00000087512 chicken ENSGALT00000020330 no CAGE; HPA supports placenta and testis expression; the top ranked introns in Intropolis are from a series of early embryo experiments (e.g. SRR490970) weak ovary CAGE support; ENCODE RNAseq supports placenta and ovary expression absent CCDC201 Uncharacterised protein. Previously absent due to a complete lack of cDNA or EST evidence in human or mouse. Genomes in the rodent / squirrel clade have lost the ancestral STOP (found in other mammals and birds), giving an C-t extended CDS. rs139122611 chr9 120799459 + T G 0.00159744 ENST00000464488.3 ENSG00000214654 RP11-27I1.4 New discovery CDS ATT ATG I M Missense UK Biobank 2.49e-08 5.57409 Diagnoses - main ICD10: K10 Other diseases of jaws Jaw disease 2.49E-08 5.57409 Diagnoses - main ICD10: K10 Other diseases of jaws mammals; potential ortholog seen in avians: e.g. chicken B3GNTL2, with partial syntenty (PSDM5 flank) previously undescribed coding gene ENSMUSG00000107167 / CAGE supports weak expression in cell lines and cancer experiments; however, alternative transcript ENST00000437707 skips coding exon 1 with high general expression in HPA; Intropolis finds weak support for coding intron 1, limited to cell lines and cancer experiments No CAGE; ENCODE RNAseq is limited to liver (support was also found in liver PacBio capture-seq experiments) NR_027442.1 (LOC100288842) B3GNT10 Galactosyltransferase superfamily member. The human cDNA and EST evidence - and the vast bulk of RNAseq evidence - supports an alternative first exon that does not contain the initiation codon. This may be why the locus was previously annotated as a pseudogene fragment. Just two codons are present on this first coding exon; there is no PhyloCSF signal here, although the [ATG] is found in all therian mammals. This locus could be pseudogenised in human, or potentially it could be translated with a truncated N-terminus, i.e. using an [ATG] in coding exon 2. Nonetheless, it was annotated as a protein-coding locus in human because there is evidence for the transcription of coding exon 1, albeit limited. rs528410024 chr3 70206778 - G A 0.000998403 ENST00000567252.1 ENSG00000242120 RP11-231I13.2 New discovery CDS ACG ATG T M Missense UK Biobank 3.42e-08 5.51863 Underlying (primary) cause of death: ICD10: C91.0 Acute lymphoblastic leukaemia Leukaemia 3.42E-08 5.51863 Underlying (primary) cause of death: ICD10: C91.0 Acute lymphoblastic leukaemia avians; potential ortholog in fish without synteny, e.g. zebrafish OTTDARG00000038399 known coding gene ENSMUSG00000090667 chicken ENSGALT00000012550 no CAGE; no HPA; weak Intropolis support dominated by cell lines and cancer cells CAGE supports mesenchymal stem cell expression; ENCODE RNAseq supports certain brain experiments and limb absent MDFIC2 MyoD family inhibitor domain-containing protein. The human model was initially built using mouse cDNA evidence. rs118018829 chr8 10498692 - G A 0.00738818 ENST00000636217.1;ENST00000647010.1 ENSG00000253649 PRSS51 New discovery CDS CGG TGG R W Missense UK Biobank 3.8e-08 5.49972 Underlying (primary) cause of death: ICD10: C97 Malignant neoplasms of independent (primary) multiple sites Neoplasm 3.80E-08 5.49972 Underlying (primary) cause of death: ICD10: C97 Malignant neoplasms of independent (primary) multiple sites mammals known coding gene ENSMUSG00000052099 / very weak CAGE; HPA supports testis expression; the topped ranked Intropolis introns are from cell lines, but there is also early embryo expression (e.g. SRR893067). all sources support testis expression absent PRSS51 Protease, serine family member. Human has a premature termination codon in the final exon, giving a shorter protein compared to other mammals including apes (the truncation is 23aa versus the mouse CDS). However, this termination is found downstream of the trypsin domain, and additional confidence in the coding potential of the human locus comes from mass spectromtery support. rs12802057 chr11 94528131 + G A 0.0107827 ENST00000542198.2 ENSG00000257057 C11orf97 NP/NM match CDS GGC AGC G S Missense UK Biobank 9.36e-12 6.81597 Underlying (primary) cause of death: ICD10: X70.8 Other specified place Other place 9.36E-12 6.81597 Underlying (primary) cause of death: ICD10: X70.8 Other specified place mammals known coding gene ENSMUSG00000031927 / CAGE finds lung, trachea, testis and brain tissues; HPA finds testis, kidney and endometrium; Intropolis finds lung as top non-cancer experiment (e.g. SRR192333) CAGE supports testis expression; ENCODE RNAseq supports testis expression alongside weaker general expression coding NM_001190462.1 C11orf97 Already known as chromosome 11 open reading frame 97 (C11orf97). This CDS had been previously been removed from GENCODE. rs11545700 chr17 28717464 - C A 0.0449281 ENST00000395243.7;ENST00000636154.2;ENST00000636513.1;ENST00000636772.1 ENSG00000109113 RAB34 NP/NM match CDS CGG CTG R L Missense UK Biobank 1.04e-10 -6.461 Sitting height Sitting height 1.04E-10 -6.461 Sitting height mammals known coding gene ENSMUSG00000002059 / all sources support general expression all sources support general expression coding NM_001256281 contranscribed with RAB34 RAB34 Transcribed from an alternative TSS within the RAB34 locus, having a substantial overlap with the RAB34 CDS though in an alternative frame. Identified and confirmed as functionally distinct in 2011, where the protein was unofficially named NARR (PMID:21586586). rs72702881 chr14 96086522 + G C 0.000998403 ENST00000553764.1;ENST00000553782.1;ENST00000555004.2;ENST00000556728.1 ENSG00000227051 C14orf132 NP/NM match CDS ATG ATC M I Missense UK Biobank 5.38e-10 6.20765 Underlying (primary) cause of death: ICD10: J98.8 Other specified respiratory disorders Respiratory 5.38E-10 6.20765 Underlying (primary) cause of death: ICD10: J98.8 Other specified respiratory disorders vertebrates known coding gene ENSMUSG00000094910 zebrafish OTTDARG00000044232 all sources support general expression CAGE is dominated by brain experiments though also supports weak general expression; ENCODE RNAseq supports general expression, highest in brain / CNS coding NM_001252507.2 C14orf132 Already known as chromosome 14 open reading frame 132 (C14orf132). The locus was previously annotated as protein-coding in GENCODEv19 with a spurious CDS. rs143463372 chr17 28717219 - C T 0.00638978 ENST00000395243.7;ENST00000636154.2;ENST00000636513.1;ENST00000636772.1 ENSG00000109113 RAB34 NP/NM match CDS GCC ACC A T Missense UK Biobank 6.45e-09 5.80467 Underlying (primary) cause of death: ICD10: K63.1 Perforation of intestine (nontraumatic) Intestine perforation 6.45E-09 5.80467 Underlying (primary) cause of death: ICD10: K63.1 Perforation of intestine (nontraumatic) mammals known coding gene ENSMUSG00000002059 / all sources support general expression all sources support general expression coding NM_001256281 contranscribed with RAB34 RAB34 Transcribed from an alternative TSS within the RAB34 locus, having a substantial overlap with the RAB34 CDS though in an alternative frame. Identified and confirmed as functionally distinct in 2011, where the protein was unofficially named NARR (PMID:21586586). rs2305373 chr19 51704275 + G A 0.0299521 ENST00000637797.1 ENSG00000182310 SPACA6 NP/NM match CDS GGC AGC G S Missense UK Biobank 5.03e-08 5.45027 Underlying (primary) cause of death: ICD10: C23 Malignant neoplasm of gallbladder Gallbladder neoplasm 5.03E-08 5.45027 Underlying (primary) cause of death: ICD10: C23 Malignant neoplasm of gallbladder mammals known coding gene ENSMUSG00000080316 / all sources support general expression all sources support general expression coding NM_001316972.1 SPACA6 Already known as sperm acrosome associated 6 (SPACA6) rs112039157 chr3 88466466 + G A 0.000599042 ENST00000637986.1 ENSG00000283434 RP11-249L12.1 XP/XM match CDS GGT GAT G D Missense UK Biobank 1.25200261142e-10 6.43289 Underlying (primary) cause of death: ICD10: K56.6 Other and unspecified intestinal obstruction Intestinal obstruction 1.78338580214633e-09; 1.25200261142005e-10 6.0164; 6.43289 Underlying (primary) cause of death: ICD10: G90.3 Multisystem degeneration; Underlying (primary) cause of death: ICD10: K56.6 Other and unspecified intestinal obstruction mammals known coding gene ENSMUSG00000068167, previously incomplete CDS / all sources support testis expression all sources support testis expression coding XP_011532645 CSNKA2IP Ortholog of mouse casein kinase 2, alpha prime interacting protein (Csnka2ip), which has itself now been extended from 276 to 720aa by a 5' extension based on comparative annotation. rs76969222 chr5 127754296 + C T 0.0123802 ENST00000514853.3 ENSG00000230561 CCDC192 C-HPP match CDS GCG GTG A V Missense UK Biobank 2.75e-10 6.31249 Underlying (primary) cause of death: ICD10: I50.9 Heart failure, unspecified Heart failure 2.75E-10 6.31249 Underlying (primary) cause of death: ICD10: I50.9 Heart failure, unspecified mammals known coding gene ENSMUSG00000058925 / all sources support testis expression all sources support testis expression ncRNA XR_159059.3 (LINC01183) CCDC192 Coiled-coil domain-containing protein. rs568237940 chr17 7430297 + C T NA ENST00000636696.2 ENSG00000283439 RP11-104H15.12 C-HPP match CDS CCA TCA P S Missense UK Biobank 5.42603814587e-10 6.20626 Treatment/medication code: humira 40mg injection solution 0.8ml prefilled syringe Humira 5.42603814586793e-10; 2.19644065658615e-09 6.20626; 5.98257 Treatment/medication code: humira 40mg injection solution 0.8ml prefilled syringe; Underlying (primary) cause of death: ICD10: C84.5 Other and unspecified T-cell lymphomas mammals previously undescribed coding gene ENSMUSG00000109737 / all sources support testis expression all sources support testis expression coding XP_011522098.1 SPEM3 Putative transmembrane protein, potentially an ancient duplication of adjacent C17orf74. rs76072033 chr17 7915774 - G A 0.0379393 ENST00000324348.8;ENST00000635932.1;ENST00000640240.1 ENSG00000179859 AC025335.1 Mackowiak match CDS GCG GTG A V Missense UK Biobank 1.74618791949e-10 6.38215 Underlying (primary) cause of death: ICD10: F03 Unspecified dementia Dementia 5.88053925223424e-09; 1.74618791948718e-10 5.82012; 6.38215 Treatment/medication code: ascorbic acid product; Underlying (primary) cause of death: ICD10: F03 Unspecified dementia avians previously undescribed coding gene ENSMUSG00000043419 lizard XP_008121180 CAGE supports two separate TSS linked to a long and short form of the CDS, the upstream showing highest expression in macrophages and the downstream in eye, skin and brain tissues; HPA supports general expression from the downstream TSS; the top ranked Intropolis experiment is skin (SRR835999) CAGE supports two TSS as seen in human, with expression of the upstream in skin, forelimb and tongue and expression of the downstream in neurons and visual cortex; ENCODE RNAseq supports brain expression alongside weak general expression, largely from the downstream TSS ncRNA NR_024349.1 (LOC284023) RNF227 Protein containing RING Ubox and DUF4632 domains. While the CDS from Mackowiak is linked to a strong CAGE tag, PhyloCSF extends upstream in the same first exon to a weaker CAGE to give the CDS listed here. It seems likely both proteins exist, thus both have been annotated in GENCODE human and mouse. The shorter form lacks the RING Ubox domain. rs181453173 chr6 44217587 + G A 0.000199681 ENST00000573382.2;ENST00000576476.1 ENSG00000262179 MYMX Mackowiak match CDS CGC CAC R H Missense UK Biobank 7.1686798008e-10 6.16232 Underlying (primary) cause of death: ICD10: A81.0 Creutzfeldt-Jakob disease Creutzfeldt-Jakob 7.16867980080385e-10; 6.75962474548938e-09; 4.11607047230176e-09 6.16232; 5.79679; 5.87946 Underlying (primary) cause of death: ICD10: A81.0 Creutzfeldt-Jakob disease; Underlying (primary) cause of death: ICD10: C02.9 Tongue, unspecified; Underlying (primary) cause of death: ICD10: K26.4 Chronic or unspecified with haemorrhage avian previously undescribed coding gene ENSMUSG00000079471 alligator KYO43399 CAGE supports expression in a variety of muscle-linked experiments, especially skeletal muscle and myoblasts, but also adipocytes; HPA supports adipose expression alongside weaker general expression; Intropolis supports muscle expression, with the top ranked experiment from skeletal muscle (SRR1398564) CAGE supports embryonic stem cell and embryo expression; ENCODE RNAseq supports limb expression alongside weaker general expression uncharacterized XR_242025.3 (LOC101929726) MYMX Subsequently reported as functional protein-coding gene MYMX / Mymx based on experimental data [PMID:28386024]. It is involved in the formation of skeletal muscle during embryogenesis. rs77099081 chr19 12688188 + T A 0.00119808 ENST00000640151.1 ENSG00000283980 CTD-2659N19.11 NP/NM partial match CDS ATG AAG M K Missense UK Biobank 2.57e-09 5.95711 Treatment/medication code: cialis 20mg tablet Cialis 2.57E-09 5.95711 Treatment/medication code: cialis 20mg tablet mammals known coding gene ENSMUSG00000095845 / no CAGE; HPA coverage cannot be separated from FBXW9 3' UTR on the opposite strand CAGE supports weak expression in neurons and diencephalon; ENCODE RNAseq supports very weak general expression coding NM_001316692.1 (LOC105372280); partial match GNG14 Paralog of GNG12. The 2 exon structure has been taken by comparison to that locus and to the mouse ortholog (Gm5741). RefSeq have annotated the locus as a single-exon model, and although the CDS can be theoretically translated across the intron without disruption, this intronic portion of CDS is poorly conserved. rs187523048 chr11 125953447 + G T 0.000199681 ENST00000638636.2 ENSG00000283703 RP11-680F20.6 XP/NM partial match CDS GGG TGG G W Missense UK Biobank 1.89362177843e-17 8.50014 Underlying (primary) cause of death: ICD10: C14.0 Pharynx, unspecified Pharynx 1.89362177842661e-17; 1.63239259937403e-12; 3.67009866981473e-15 8.50014; 7.06275; 7.86571 Underlying (primary) cause of death: ICD10: C14.0 Pharynx, unspecified; Underlying (primary) cause of death: ICD10: D43.2 Brain, unspecified; Underlying (primary) cause of death: ICD10: J69.0 Pneumonitis due to food and vomit xenopus previously undescribed coding gene ENSMUSG00000098590 xenopus OCT70428 no CAGE; no HPA; Intropolis finds expression in skin (e.g. SRR836000) no expression data coding XP_006719013.2; partial match VSIG10L2 V-set and immunoglobulin domain containing protein. Mouse annotation is partly supported by ESTs from inner ear, e.g. BB850581 rs114237530 chr2 126899553 + C T 0.00199681 ENST00000436605.4;ENST00000441412.3;ENST00000450035.5;ENST00000568484.5;ENST00000636457.1;ENST00000643416.1 ENSG00000237524 AC114783.1 XP/NM partial match CDS ACG ATG T M Missense UK Biobank 1.82e-11 6.7196 Treatment/medication code: calcium+ergocalciferol tablet Calcium ergocalciferol 1.82E-11 6.7196 Treatment/medication code: calcium+ergocalciferol tablet mammals absent in mouse and rat cow EST DT838655 contains an intact CDS all sources support testis expression coding XP_011510574.1 (LOC101929926); partial match TEX51 Uncharacterised protein. Alternative splicing allows the potential usage of 4 distinct STOP codons in human, none of which have strong conservation. The first 6 coding exons are conserved in mammals with an open translation, and it is not obvious if the translation after this point has diverged dramatically in mammals, or if there have been pseudogenisation events in certain lineages. rs188202532 chr11 125947952 + C T 0.00119808 ENST00000638636.2 ENSG00000283703 RP11-680F20.6 XP/NM partial match CDS CGT TGT R C Missense UK Biobank 9.01e-11 6.48272 Underlying (primary) cause of death: ICD10: A41.9 Septicaemia, unspecified Septicaemia 9.01E-11 6.48272 Underlying (primary) cause of death: ICD10: A41.9 Septicaemia, unspecified xenopus previously undescribed coding gene ENSMUSG00000098590 xenopus OCT70428 no CAGE; no HPA; Intropolis finds expression in skin (e.g. SRR836000) no expression data coding XP_006719013.2; partial match VSIG10L2 V-set and immunoglobulin domain containing protein. Mouse annotation is partly supported by ESTs from inner ear, e.g. BB850581 rs556834846 chr9 131554676 + C T 0.00499201 ENST00000636672.1 ENSG00000283526 RP11-40A7.2 XP/NM partial match CDS CGC TGC R C Missense UK Biobank 4.49e-10 6.23607 Underlying (primary) cause of death: ICD10: W10.0 Home Home death 4.49E-10 6.23607 Underlying (primary) cause of death: ICD10: W10.0 Home coelacanth; potential ortholog in fish without synteny, e.g. zebrafish OTTDARG00000036869 previously undescribed coding gene ENSMUSG00000079497 coelacanth XP_014340850 CAGE supports cancer expression only; HPA supports expression in internal organs, lung especially; Intropolis is dominated by cancer and cell lines experiments CAGE supports pancreas, stomach, kidney and liver expression; ENCODE RNAseq supports expression in these and other organs coding XP_011517576.1; partial match PRRT1B Proline-rich transmembrane protein. rs181151988 chr9 131556080 + C T 0.00379393 ENST00000636672.1 ENSG00000283526 RP11-40A7.2 XP/NM partial match CDS CCG CTG P L Missense UK Biobank 2.78e-09 5.94413 Underlying (primary) cause of death: ICD10: C73 Malignant neoplasm of thyroid gland Thyroid neoplasm 2.78E-09 5.94413 Underlying (primary) cause of death: ICD10: C73 Malignant neoplasm of thyroid gland coelacanth; potential ortholog in fish without synteny, e.g. zebrafish OTTDARG00000036869 previously undescribed coding gene ENSMUSG00000079497 coelacanth XP_014340850 CAGE supports cancer expression only; HPA supports expression in internal organs, lung especially; Intropolis is dominated by cancer and cell lines experiments CAGE supports pancreas, stomach, kidney and liver expression; ENCODE RNAseq supports expression in these and other organs coding XP_011517576.1; partial match PRRT1B Proline-rich transmembrane protein. rs575310150 chr11 125953582 + C T 0.000199681 ENST00000638636.2 ENSG00000283703 RP11-680F20.6 XP/NM partial match CDS CGC TGC R C Missense UK Biobank 6.13e-09 5.81309 Underlying (primary) cause of death: ICD10: C80.9 Malignant neoplasm, unspecified Neoplasm 6.13E-09 5.81309 Underlying (primary) cause of death: ICD10: C80.9 Malignant neoplasm, unspecified xenopus previously undescribed coding gene ENSMUSG00000098590 xenopus OCT70428 no CAGE; no HPA; Intropolis finds expression in skin (e.g. SRR836000) no expression data coding XP_006719013.2; partial match VSIG10L2 V-set and immunoglobulin domain containing protein. Mouse annotation is partly supported by ESTs from inner ear, e.g. BB850581 rs529184898 chr11 125948022 + C T NA ENST00000638636.2 ENSG00000283703 RP11-680F20.6 XP/NM partial match CDS ACG ATG T M Missense UK Biobank 2.07e-08 5.60571 Treatment/medication code: folic acid product Folic acid 2.07E-08 5.60571 Treatment/medication code: folic acid product xenopus previously undescribed coding gene ENSMUSG00000098590 xenopus OCT70428 no CAGE; no HPA; Intropolis finds expression in skin (e.g. SRR836000) no expression data coding XP_006719013.2; partial match VSIG10L2 V-set and immunoglobulin domain containing protein. Mouse annotation is partly supported by ESTs from inner ear, e.g. BB850581 rs35099146 chr11 125950951 + C T 0.144169 ENST00000638636.2 ENSG00000283703 RP11-680F20.6 XP/NM partial match CDS CCT TCT P S Missense UK Biobank 3.93e-08 5.49393 Standing height Height 3.93E-08 5.49393 Standing height xenopus previously undescribed coding gene ENSMUSG00000098590 xenopus OCT70428 no CAGE; no HPA; Intropolis finds expression in skin (e.g. SRR836000) no expression data coding XP_006719013.2; partial match VSIG10L2 V-set and immunoglobulin domain containing protein. Mouse annotation is partly supported by ESTs from inner ear, e.g. BB850581 rs577449874 chr8 143788997 + C T NA ENST00000527139.6 ENSG00000203499 RP11-429J17.8 UniProt partial match CDS GCT GTT A V Missense UK Biobank 3.11205910048e-34 12.1999 Underlying (primary) cause of death: ICD10: C73 Malignant neoplasm of thyroid gland Thyroid neoplasm 9.01138951515942e-13; 1.12103226557427e-08; 3.11205910048029e-34 7.14482; 5.71132; 12.1999 Non-cancer illness code, self-reported: thyroiditis; Non-cancer illness code, self-reported: incisional hernia; Underlying (primary) cause of death: ICD10: C73 Malignant neoplasm of thyroid gland coelacanth previously undescribed coding gene ENSMUSG00000102018 coelacanth ENSLACT00000013317 (5' truncated) all sources support testis expression CAGE supports testis expression; ENCODE RNAseq supports general expression ncRNA NR_033849.1 (FAM83H-AS1) IQANK1 IQ motif and ankyrin repeat domain-containing protein. Incorporates exonic GWAS SNP rs4875053 linked to menarche, which can now be reinterpreted as mis-sense [ACG]-[AGG]. UniProt A8MXQ7 uses a spurious first coding exon and misses the first two coding exons presented here. rs7823975 chr8 143772134 + C T 0.0427316 ENST00000527139.6 ENSG00000203499 RP11-429J17.8 UniProt partial match CDS GCG GTG A V Missense UK Biobank 1.1e-27 10.9045 Underlying (primary) cause of death: ICD10: C18.1 Appendix Appendix 1.10E-27 10.9045 Underlying (primary) cause of death: ICD10: C18.1 Appendix coelacanth previously undescribed coding gene ENSMUSG00000102018 coelacanth ENSLACT00000013317 (5' truncated) all sources support testis expression CAGE supports testis expression; ENCODE RNAseq supports general expression ncRNA NR_033849.1 (FAM83H-AS1) IQANK1 IQ motif and ankyrin repeat domain-containing protein. Incorporates exonic GWAS SNP rs4875053 linked to menarche, which can now be reinterpreted as mis-sense [ACG]-[AGG]. UniProt A8MXQ7 uses a spurious first coding exon and misses the first two coding exons presented here. rs10142728 chr14 93998143 + G A 0.279952 ENST00000636493.1;ENST00000640978.1 ENSG00000175699 RP11-1089B7.1 UniProt partial match CDS ATG ATA M I Missense UK Biobank 2.45894473252e-12 7.00562 Standing height Height 6.43403873256483e-11; 2.45894473251617e-12 6.53329; 7.00562 Sitting height; Standing height mammals novel unitary pseudogene ENSMUSG00000110677 / CAGE supports testis expression; HPA finds testis expression alongside heart expression for a specific model with an alternative multi-exon 5' UTR; Intropolis is dominated by testis experiments / ncRNA NR_024183 (LINC00521) CCDC197 Coiled-coil domain-containing protein. UniProt Q8NCU1.1 and Q8NCU1-2.1 are 3' truncated. rs139512987 chr14 94001249 + G A 0.00359425 ENST00000636493.1;ENST00000640978.1 ENSG00000175699 RP11-1089B7.1 UniProt partial match CDS GCC ACC A T Missense UK Biobank 3.12811792e-11 6.64041 Underlying (primary) cause of death: ICD10: K85.9 Acute pancreatitis, unspecified Pancreatitis 2.58242229346143e-08; 3.12811791999921e-11 5.56762; 6.64041 Home area population density - urban or rural: Scotland - Large Urban Area; Underlying (primary) cause of death: ICD10: K85.9 Acute pancreatitis, unspecified mammals novel unitary pseudogene ENSMUSG00000110677 / CAGE supports testis expression; HPA finds testis expression alongside heart expression for a specific model with an alternative multi-exon 5' UTR; Intropolis is dominated by testis experiments / ncRNA NR_024183 (LINC00521) CCDC197 Coiled-coil domain-containing protein. UniProt Q8NCU1.1 and Q8NCU1-2.1 are 3' truncated. rs4875053 chr8 143790241 + C G ENST00000527139.6 ENSG00000203499 RP11-429J17.8 UniProt partial match CDS ACG AGG T R Missense EBI 1e-08 NA Menarche (age at onset) Menarche 1.00E-08 NA Menarche (age at onset) coelacanth previously undescribed coding gene ENSMUSG00000102018 coelacanth ENSLACT00000013317 (5' truncated) all sources support testis expression CAGE supports testis expression; ENCODE RNAseq supports general expression ncRNA NR_033849.1 (FAM83H-AS1) IQANK1 IQ motif and ankyrin repeat domain-containing protein. Incorporates exonic GWAS SNP rs4875053 linked to menarche, which can now be reinterpreted as mis-sense [ACG]-[AGG]. UniProt A8MXQ7 uses a spurious first coding exon and misses the first two coding exons presented here. rs192277370 chr17 81181279 + C T 0.000599042 ENST00000637878.1 ENSG00000225180 AC027601.2 Mackowiak partial match CDS ACG ATG T M Missense UK Biobank 3.45e-12 6.95812 Underlying (primary) cause of death: ICD10: C73 Malignant neoplasm of thyroid gland Thyroid neoplasm 3.45E-12 6.95812 Underlying (primary) cause of death: ICD10: C73 Malignant neoplasm of thyroid gland coelacanth; potential ortholog in fish without synteny, e.g. herring XP_012675455.1 novel unitary pseudogene ENSMUSG00000113114 coelacanth XP_005988106.1 no CAGE support; no HPA support; Intropolis finds weak support in a series of adipose experiments (e.g. SRR833729) / ncRNA NR_027255.1 (AATK-AS1); partial match PVALEF Novel EF-hand domain-containing protein. Apparently pseudogenised in the rodent / lagomorph clade. The CDS reported by Mackowiak is incorrect as it has been extrapolated from RNA evidence that retains an intron. rs564896882 chr4 5992855 - G A 0.00139776 ENST00000531445.2 ENSG00000181215 C4orf50 New CDS in existing coding gene CDS CCG CTG P L Missense UK Biobank 6.99084673851e-28 10.9454 Underlying (primary) cause of death: ICD10: K55.0 Acute vascular disorders of intestine Intestine 2.76418682882258e-12; 6.99084673851486e-28 6.98922; 10.9454 Underlying (primary) cause of death: ICD10: C81.9 Hodgkin's disease, unspecified; Underlying (primary) cause of death: ICD10: K55.0 Acute vascular disorders of intestine rs6875303 chr5 35790150 + A G 0.121406 ENST00000637569.1 ENSG00000152582 SPEF2 New CDS in existing coding gene CDS CAT CGT H R Missense UK Biobank 1.3183035637e-26 10.676 Underlying (primary) cause of death: ICD10: X59.0 Home Home death 2.33817123195801e-09; 1.31830356369996e-26 5.97238; 10.676 Underlying (primary) cause of death: ICD10: G35 Multiple sclerosis; Underlying (primary) cause of death: ICD10: X59.0 Home rs56349002 chr5 35788559 + T C 0.0746805 ENST00000637569.1 ENSG00000152582 SPEF2 New CDS in existing coding gene CDS ATA ACA I T Missense UK Biobank 1.41385127495e-26 10.6695 Underlying (primary) cause of death: ICD10: X59.0 Home Home death 2.06601308027884e-09; 1.41385127494667e-26 5.99253; 10.6695 Underlying (primary) cause of death: ICD10: G35 Multiple sclerosis; Underlying (primary) cause of death: ICD10: X59.0 Home rs2277042 chr5 35789658 + C T 0.0746805 ENST00000637569.1 ENSG00000152582 SPEF2 New CDS in existing coding gene CDS GCT GTT A V Missense UK Biobank 1.5392625595e-26 10.6616 Underlying (primary) cause of death: ICD10: X59.0 Home Home death 2.52685951964363e-09; 1.53926255949587e-26 5.95971; 10.6616 Underlying (primary) cause of death: ICD10: G35 Multiple sclerosis; Underlying (primary) cause of death: ICD10: X59.0 Home rs183183292 chr5 35788529 + A G NA ENST00000637569.1 ENSG00000152582 SPEF2 New CDS in existing coding gene CDS AAG AGG K R Missense UK Biobank 4.29732189891e-24 10.1246 Underlying (primary) cause of death: ICD10: J98.8 Other specified respiratory disorders Respiratory 4.29732189890832e-24; 1.32361734260398e-16 10.1246; 8.27143 Underlying (primary) cause of death: ICD10: J98.8 Other specified respiratory disorders; Underlying (primary) cause of death: ICD10: X42.0 Home rs545737338 chr4 17876285 - C T 0.000998403 ENST00000635767.1 ENSG00000178177 LCORL New CDS in existing coding gene CDS GGC GAC G D Missense UK Biobank 2.75e-20 9.22817 Underlying (primary) cause of death: ICD10: I33.0 Acute and subacute infective endocarditis Endocarditis 2.75E-20 9.22817 Underlying (primary) cause of death: ICD10: I33.0 Acute and subacute infective endocarditis rs118059021 chr1 26354628 - G A 0.0171725 ENST00000475866.3;ENST00000475866.3 ENSG00000176092 CRYBG2 New CDS in existing coding gene CDS GCC GTC A V Missense UK Biobank 3.93e-20 9.18995 Underlying (primary) cause of death: ICD10: C92.1 Chronic myeloid leukaemia Leukaemia 3.93E-20 9.18995 Underlying (primary) cause of death: ICD10: C92.1 Chronic myeloid leukaemia rs140354197 chr10 95992666 + A G 0.000798722 ENST00000636965.1;ENST00000646931.1 ENSG00000188649 CC2D2B New CDS in existing coding gene CDS AAT GAT N D Missense UK Biobank 7.44411663815e-20 9.12099 Underlying (primary) cause of death: ICD10: I61.9 Intracerebral haemorrhage, unspecified Haemorrhage 3.25385121247314e-09; 7.44411663815482e-20; 1.32822068686593e-11 5.91825; 9.12099; 6.76553 Treatment/medication code: cyanocobalamin product; Underlying (primary) cause of death: ICD10: I61.9 Intracerebral haemorrhage, unspecified; Underlying (primary) cause of death: ICD10: K63.1 Perforation of intestine (nontraumatic) rs451216 chr7 134209081 + G A 0.0996406 ENST00000645682.1 ENSG00000155530 LRGUK New CDS in existing coding gene CDS GTG ATG V M Missense UK Biobank 6.45e-19 -8.88406 Underlying (primary) cause of death: ICD10: E14.9 Without complications No complications 6.45E-19 -8.88406 Underlying (primary) cause of death: ICD10: E14.9 Without complications rs149286497 chr17 29128084 - C T 0.0081869 ENST00000533420.3 ENSG00000196535 MYO18A New CDS in existing coding gene CDS CGC CAC R H Missense UK Biobank 3.2405521454e-16 8.16402 Underlying (primary) cause of death: ICD10: C32.9 Larynx, unspecified Larynx 3.24055214539571e-16; 1.04611802310443e-09 8.16402; 6.10221 Underlying (primary) cause of death: ICD10: C32.9 Larynx, unspecified; Diagnoses - main ICD10: L28 Lichen simplex chronicus and prurigo rs113429647 chr13 113407617 - G T 0.00219649 ENST00000612156.2 ENSG00000153531 ADPRHL1 New CDS in existing coding gene CDS TTC TTA F L Missense UK Biobank 9.93e-16 8.02768 Underlying (primary) cause of death: ICD10: D43.2 Brain, unspecified Brain 9.93E-16 8.02768 Underlying (primary) cause of death: ICD10: D43.2 Brain, unspecified rs548192346 chr3 22168945 - T A 0.000199681 ENST00000494108.1 ENSG00000151789 ZNF385D New CDS in existing coding gene CDS AAC ATC N I Missense UK Biobank 2.38832216037e-15 7.91931 Underlying (primary) cause of death: ICD10: K57.8 Diverticular disease of intestine, part unspecified, with perforation and abscess Intestine 2.3883221603666e-15; 6.37691653004792e-14 7.91931; 7.5001 Underlying (primary) cause of death: ICD10: K57.8 Diverticular disease of intestine, part unspecified, with perforation and abscess; Underlying (primary) cause of death: ICD10: W10.0 Home rs548810774 chr1 6456160 + T C 0.000599042 ENST00000636330.1;ENST00000636330.1 ENSG00000187017 ESPN New CDS in existing coding gene CDS TTC TCC F S Missense UK Biobank 1.71487537532e-14 7.67038 Underlying (primary) cause of death: ICD10: V49.9 Car occupant [any] injured in unspecified traffic accident Traffic 3.9956033311798e-13; 1.71487537532271e-14 7.25571; 7.67038 Underlying (primary) cause of death: ICD10: C10.9 Oropharynx, unspecified; Underlying (primary) cause of death: ICD10: V49.9 Car occupant [any] injured in unspecified traffic accident rs534248048 chr16 85170813 + C G 0.000399361 ENST00000637419.1 ENSG00000131149 GSE1 New CDS in existing coding gene CDS ACG AGG T R Missense UK Biobank 3.12e-14 7.59307 Underlying (primary) cause of death: ICD10: I71.1 Thoracic aortic aneurysm, ruptured Aneurysm 3.12E-14 7.59307 Underlying (primary) cause of death: ICD10: I71.1 Thoracic aortic aneurysm, ruptured rs140560090 chr1 6455218 + G T 0.000798722 ENST00000636330.1;ENST00000636330.1 ENSG00000187017 ESPN New CDS in existing coding gene CDS CGG CTG R L Missense UK Biobank 5.11e-14 7.52908 Underlying (primary) cause of death: ICD10: X59.9 Unspecified place Unspecified place 5.11E-14 7.52908 Underlying (primary) cause of death: ICD10: X59.9 Unspecified place rs773263845 chr1 29070439 + C A NA ENST00000636666.1;ENST00000636666.1;ENST00000644780.1;ENST00000644780.1;ENST00000646189.1 ENSG00000159023 EPB41 New CDS in existing coding gene CDS CCC ACC P T Missense UK Biobank 3.57100231836e-13 7.2709 Underlying (primary) cause of death: ICD10: C71.0 Cerebrum, except lobes and ventricles Cerebrum 4.23957734568309e-08; 3.57100231835829e-13 5.48057; 7.2709 Non-cancer illness code, self-reported: femoral hernia; Underlying (primary) cause of death: ICD10: C71.0 Cerebrum, except lobes and ventricles rs146055245 chr18 5399110 - T G 0.00119808 ENST00000400111.8 ENSG00000082397 EPB41L3 New CDS in existing coding gene CDS AAA AAC K N Missense UK Biobank 3.58e-13 7.27066 Underlying (primary) cause of death: ICD10: G31.8 Other specified degenerative diseases of nervous system Neurodegen 3.58E-13 7.27066 Underlying (primary) cause of death: ICD10: G31.8 Other specified degenerative diseases of nervous system rs111738325 chr8 144063774 - C A 0.00958466 ENST00000567871.2 ENSG00000178814 OPLAH New CDS in existing coding gene CDS GGG GTG G V Missense UK Biobank 7.07e-13 7.17804 Underlying (primary) cause of death: ICD10: C80.9 Malignant neoplasm, unspecified Neoplasm 7.07E-13 7.17804 Underlying (primary) cause of death: ICD10: C80.9 Malignant neoplasm, unspecified rs148669185 chr6 148520044 + C T 0.000399361 ENST00000636279.1 ENSG00000111961 SASH1 New CDS in existing coding gene CDS CGT TGT R C Missense UK Biobank 1.56e-12 7.06897 Treatment/medication code: mercilon tablet Mercilon 1.56E-12 7.06897 Treatment/medication code: mercilon tablet rs772273115 chr13 98395539 + G A NA ENST00000596580.2 ENSG00000152767 FARP1 New CDS in existing coding gene CDS GTA ATA V I Missense UK Biobank 1.84e-12 7.046 Underlying (primary) cause of death: ICD10: M06.9 Rheumatoid arthritis, unspecified Arthritis 1.84E-12 7.046 Underlying (primary) cause of death: ICD10: M06.9 Rheumatoid arthritis, unspecified rs555486695 chr9 35300262 + A T NA ENST00000635942.1 ENSG00000198722 UNC13B New CDS in existing coding gene CDS AGA AGT R S Missense UK Biobank 2.38062757127e-12 7.01015 Underlying (primary) cause of death: ICD10: X59.9 Unspecified place Unspecified place 1.86553230657507e-08; 2.38062757126681e-12 5.62403; 7.01015 Underlying (primary) cause of death: ICD10: C26.9 Ill-defined sites within the digestive system; Underlying (primary) cause of death: ICD10: X59.9 Unspecified place rs143038317 chr9 18163899 + G A 0.000998403 ENST00000636209.1 ENSG00000178031 ADAMTSL1 New CDS in existing coding gene CDS CGG CAG R Q Missense UK Biobank 5.25323023129e-12 6.89856 Underlying (primary) cause of death: ICD10: C71.0 Cerebrum, except lobes and ventricles Cerebrum 5.25323023128607e-12; 2.81892039773082e-09 6.89856; 5.94181 Underlying (primary) cause of death: ICD10: C71.0 Cerebrum, except lobes and ventricles; Underlying (primary) cause of death: ICD10: I38 Endocarditis, valve unspecified rs148386640 chr19 15439193 - C T 0.000798722 ENST00000643092.1 ENSG00000011451 WIZ New CDS in existing coding gene CDS GTC ATC V I Missense UK Biobank 6.31e-12 6.87248 Underlying (primary) cause of death: ICD10: C53.9 Cervix uteri, unspecified Cervix 6.31E-12 6.87248 Underlying (primary) cause of death: ICD10: C53.9 Cervix uteri, unspecified rs550199966 chr9 35305912 + A G NA ENST00000635942.1 ENSG00000198722 UNC13B New CDS in existing coding gene CDS AAA GAA K E Missense UK Biobank 1.00775855629e-11 6.80539 Underlying (primary) cause of death: ICD10: C71.0 Cerebrum, except lobes and ventricles Cerebrum 1.19393477791569e-08; 1.00775855629137e-11; 1.65452376406082e-10; 3.36974310899181e-09; 4.80985697628297e-08 5.70059; 6.80539; 6.3904; 5.91249; 5.4582 Home area population density - urban or rural: Scotland - Large Urban Area; Underlying (primary) cause of death: ICD10: C71.0 Cerebrum, except lobes and ventricles; Underlying (primary) cause of death: ICD10: K92.2 Gastro-intestinal haemorrhage, unspecified; Underlying (primary) cause of death: ICD10: V49.9 Car occupant [any] injured in unspecified traffic accident; Cochlear implant rs565940054 chr11 57311317 - C T 0.000599042 ENST00000530920.1 ENSG00000149115 TNKS1BP1 New CDS in existing coding gene CDS CGG CAG R Q Missense UK Biobank 1.02847578362e-11 6.80246 Underlying (primary) cause of death: ICD10: X70.8 Other specified place Other place 4.91938097727903e-08; 2.77532307057843e-08; 1.02847578361651e-11 5.4542; 5.55505; 6.80246 Treatment/medication code: ferrous salt product; Treatment/medication code: premique cycle 10mg tablet; Underlying (primary) cause of death: ICD10: X70.8 Other specified place rs556688361 chr16 85171721 + G A NA ENST00000637419.1 ENSG00000131149 GSE1 New CDS in existing coding gene CDS GAG AAG E K Missense UK Biobank 1.3261121534e-11 6.76576 Diagnoses - main ICD10: G54 Nerve root and plexus disorders Nerve root 1.16380427970755e-10; 1.02633469332836e-09; 1.32611215340017e-11 6.44398; 6.10526; 6.76576 Underlying (primary) cause of death: ICD10: C45.9 Mesothelioma, unspecified; Underlying (primary) cause of death: ICD10: I50.9 Heart failure, unspecified; Diagnoses - main ICD10: G54 Nerve root and plexus disorders rs139967640 chr5 59430359 - G C 0.00199681 ENST00000636120.1 ENSG00000113448 PDE4D New CDS in existing coding gene CDS AGC AGG S R Missense UK Biobank 1.43486912244e-11 6.75434 Underlying (primary) cause of death: ICD10: K57.8 Diverticular disease of intestine, part unspecified, with perforation and abscess Intestine 1.64415435494486e-11; 1.4348691224405e-11 6.73457; 6.75434 Underlying (primary) cause of death: ICD10: K26.4 Chronic or unspecified with haemorrhage; Underlying (primary) cause of death: ICD10: K57.8 Diverticular disease of intestine, part unspecified, with perforation and abscess rs150461244 chr5 35788453 + G A 0.00139776 ENST00000637569.1 ENSG00000152582 SPEF2 New CDS in existing coding gene CDS GTC ATC V I Missense UK Biobank 2.23277373635e-11 6.68993 Treatment/medication code: raloxifene hydrochloride Raloxifene hydrochloride 2.23277373634808e-11; 7.40815121525616e-09 6.68993; 5.7814 Treatment/medication code: raloxifene hydrochloride; Underlying (primary) cause of death: ICD10: J69.0 Pneumonitis due to food and vomit rs546852103 chr5 35788495 + G A 0.000199681 ENST00000637569.1 ENSG00000152582 SPEF2 New CDS in existing coding gene CDS GAA AAA E K Missense UK Biobank 2.63981427642e-11 6.66538 Underlying (primary) cause of death: ICD10: I11.0 Hypertensive heart disease with (congestive) heart failure Heart failure 2.60130501523771e-08; 2.08593119914522e-09; 2.63981427642449e-11 5.56635; 5.99097; 6.66538 Treatment/medication code: tetralysal 300 capsule; Treatment/medication code: chlorpheniramine; Underlying (primary) cause of death: ICD10: I11.0 Hypertensive heart disease with (congestive) heart failure rs80227771 chr4 17873526 - G A 0.0199681 ENST00000635767.1 ENSG00000178177 LCORL New CDS in existing coding gene CDS CCT TCT P S Missense UK Biobank 4.33035194323e-11 -6.59231 Standing height Height 7.45409459996394e-09; 4.50594542141777e-08; 3.32634129263973e-08; 4.33035194323285e-11 -5.78036; -5.46978; -5.52333; -6.59231 Sitting height; Trunk fat-free mass; Trunk predicted mass; Standing height rs191638840 chr5 35789911 + G A NA ENST00000637569.1 ENSG00000152582 SPEF2 New CDS in existing coding gene CDS GAG AAG E K Missense UK Biobank 4.77684613143e-11 6.57773 Underlying (primary) cause of death: ICD10: C91.0 Acute lymphoblastic leukaemia Leukaemia 4.0494658932073e-09; 4.77684613142674e-11 5.88216; 6.57773 Treatment/medication code: enalapril maleate+hydrochlorothiazide 20mg/12.5mg tablet; Underlying (primary) cause of death: ICD10: C91.0 Acute lymphoblastic leukaemia rs565661033 chr4 2596279 + C T 0.000399361 ENST00000637812.1 ENSG00000125386 FAM193A New CDS in existing coding gene CDS CGC TGC R C Missense UK Biobank 1.54797960396e-10 6.40057 Treatment/medication code: femara 2.5mg tablet Femara 1.54797960395586e-10; 8.89641151627813e-09; 4.96473057203524e-09 6.40057; 5.75053; 5.84835 Treatment/medication code: femara 2.5mg tablet; Underlying (primary) cause of death: ICD10: C91.0 Acute lymphoblastic leukaemia; Underlying (primary) cause of death: ICD10: E14.9 Without complications rs750027121 chr9 35302262 + A G NA ENST00000635942.1 ENSG00000198722 UNC13B New CDS in existing coding gene CDS GAC GGC D G Missense UK Biobank 2.2346807282e-10 6.34428 Underlying (primary) cause of death: ICD10: W10.0 Home Home death 7.96440065016586e-09; 2.41321902869537e-08; 2.23468072819772e-10 5.76921; 5.57942; 6.34428 Underlying (primary) cause of death: ICD10: C82.9 Follicular non-Hodgkin's lymphoma, unspecified; Underlying (primary) cause of death: ICD10: I61.9 Intracerebral haemorrhage, unspecified; Underlying (primary) cause of death: ICD10: W10.0 Home rs186372088 chr16 85556355 + A T 0.0061901 ENST00000635906.1 ENSG00000131149 GSE1 New CDS in existing coding gene CDS TAC TTC Y F Missense UK Biobank 2.50119136256e-10 6.32691 Underlying (primary) cause of death: ICD10: K70.4 Alcoholic hepatic failure Hepatic 3.08276608466829e-08; 2.50119136256279e-10 5.53667; 6.32691 Underlying (primary) cause of death: ICD10: I25.5 Ischaemic cardiomyopathy; Underlying (primary) cause of death: ICD10: K70.4 Alcoholic hepatic failure rs16895927 chr4 17873607 - T C 0.0712859 ENST00000635767.1 ENSG00000178177 LCORL New CDS in existing coding gene CDS ACA GCA T A Missense UK Biobank 2.5999378823e-10 -6.32093 Standing height Height 4.5766443179445e-08; 2.59993788229622e-10 -5.46702; -6.32093 Trunk predicted mass; Standing height rs541918342 chr12 25015384 + G T 0.000199681 ENST00000636465.1 ENSG00000118308 LRMP New CDS in existing coding gene CDS TTG TTT L F Missense UK Biobank 3.56462480961e-10 6.27199 Treatment/medication code: promethazine product Promethazine 7.83128689122632e-09; 3.56462480960788e-10 5.77205; 6.27199 Treatment/medication code: glandosane plain spray; Treatment/medication code: promethazine product rs9813894 chr3 88139270 + G A 0.216653 ENST00000636215.1 ENSG00000175105 ZNF654 New CDS in existing coding gene CDS AGT AAT S N Missense UK Biobank 4.51749233058e-10 6.23501 Weight Weight 2.85424594164963e-08; 4.51749233057844e-10; 9.18232541235059e-09; 1.88540801848173e-08; 1.72115269601629e-09; 5.07137293663787e-10; 3.05826117851119e-09; 4.92845440892876e-09; 1.01324320359029e-09; 7.30349063815096e-10; 8.74217809568742e-10; 2.15678857578892e-08; 1.35389474140828e-08; 2.97213974161933e-08; 3.2482622749162e-08; 1.80303680151498e-08 5.55015; 6.23501; 5.74518; 5.6222; 6.02215; 6.21688; 5.92844; 5.84957; 6.10731; 6.15937; 6.13083; 5.59893; 5.67912; 5.54307; 5.5275; 5.62991 Comparative body size at age 10; Weight; Whole body fat mass; Whole body fat-free mass; Basal metabolic rate; Leg fat mass (right); Leg fat-free mass (right); Leg predicted mass (right); Leg fat mass (left); Leg fat-free mass (left); Leg predicted mass (left); Arm fat-free mass (right); Arm predicted mass (right); Arm fat-free mass (left); Arm predicted mass (left); Trunk fat mass rs7907476 chr10 95938599 + T C 0.0537141 ENST00000636965.1;ENST00000646931.1 ENSG00000188649 CC2D2B New CDS in existing coding gene CDS ATG ACG M T Missense UK Biobank 5.81e-10 6.19544 Underlying (primary) cause of death: ICD10: C91.0 Acute lymphoblastic leukaemia Leukaemia 5.81E-10 6.19544 Underlying (primary) cause of death: ICD10: C91.0 Acute lymphoblastic leukaemia rs117815536 chr13 113404925 - G A 0.0127796 ENST00000612156.2 ENSG00000153531 ADPRHL1 New CDS in existing coding gene CDS CGG TGG R W Missense UK Biobank 8.02e-10 6.14454 Underlying (primary) cause of death: ICD10: C53.9 Cervix uteri, unspecified Cervix 8.02E-10 6.14454 Underlying (primary) cause of death: ICD10: C53.9 Cervix uteri, unspecified rs528158701 chr8 54649137 + G T 0.00139776 ENST00000636932.1;ENST00000637698.1 ENSG00000104237 RP1 New CDS in existing coding gene CDS GAC TAC D Y Missense UK Biobank 8.1e-10 6.14298 Underlying (primary) cause of death: ICD10: I73.9 Peripheral vascular disease, unspecified Vascular disease 8.10E-10 6.14298 Underlying (primary) cause of death: ICD10: I73.9 Peripheral vascular disease, unspecified rs145620138 chr13 113407687 - T C 0.0127796 ENST00000612156.2 ENSG00000153531 ADPRHL1 New CDS in existing coding gene CDS AAA AGA K R Missense UK Biobank 8.17e-10 6.14167 Underlying (primary) cause of death: ICD10: C53.9 Cervix uteri, unspecified Cervix 8.17E-10 6.14167 Underlying (primary) cause of death: ICD10: C53.9 Cervix uteri, unspecified rs144735124 chr9 35301062 + A G 0.000399361 ENST00000635942.1 ENSG00000198722 UNC13B New CDS in existing coding gene CDS CAT CGT H R Missense UK Biobank 8.32e-10 6.13877 Underlying (primary) cause of death: ICD10: J43.9 Emphysema, unspecified Emphysema 8.32E-10 6.13877 Underlying (primary) cause of death: ICD10: J43.9 Emphysema, unspecified rs2782646 chr1 43426518 + G A 0.219649 ENST00000634258.2 ENSG00000198198 SZT2 New CDS in existing coding gene CDS CGG CAG R Q Missense UK Biobank 1.0971143297e-09 6.0946 Systolic blood pressure, automated reading Blood pressure 1.58324081070805e-09; 1.09711432969524e-09 6.03565; 6.0946 Diastolic blood pressure, automated reading; Systolic blood pressure, automated reading rs11673000 chr19 45238753 - C G 0.15655 ENST00000413988.2 ENSG00000283632 EXOC3L2 New CDS in existing coding gene CDS CGC CCC R P Missense UK Biobank 1.27e-09 6.07101 Diastolic blood pressure, automated reading Blood pressure 1.27E-09 6.07101 Diastolic blood pressure, automated reading rs138647568 chr20 15893007 + G A 0.00159744 ENST00000642719.1 ENSG00000172264 MACROD2 New CDS in existing coding gene CDS GAG AAG E K Missense UK Biobank 1.28e-09 6.06935 Treatment/medication code: vitamin a Vitamin a 1.28E-09 6.06935 Treatment/medication code: vitamin a rs190166673 chr10 95974133 + A C 0.00159744 ENST00000646931.1 ENSG00000188649 CC2D2B New CDS in existing coding gene CDS CAA CAC Q H Missense UK Biobank 1.38e-09 6.05829 Underlying (primary) cause of death: ICD10: C53.9 Cervix uteri, unspecified Cervix 1.38E-09 6.05829 Underlying (primary) cause of death: ICD10: C53.9 Cervix uteri, unspecified rs186055179 chr8 11808615 + C G 0.00119808 ENST00000525954.5 ENSG00000079459 FDFT1 New CDS in existing coding gene CDS ACC AGC T S Missense UK Biobank 1.75e-09 6.01959 Underlying (primary) cause of death: ICD10: U50.9 Inquest Adjourned Death Inquest death 1.75E-09 6.01959 Underlying (primary) cause of death: ICD10: U50.9 Inquest Adjourned Death rs144965784 chr12 25004460 + A C 0.00479233 ENST00000636465.1 ENSG00000118308 LRMP New CDS in existing coding gene CDS AAA ACA K T Missense UK Biobank 1.80855334946e-09 6.01413 Underlying (primary) cause of death: ICD10: J18.0 Bronchopneumonia, unspecified Bronchopneumonia 1.80855334946312e-09; 4.34286605529584e-08 6.01413; 5.47631 Underlying (primary) cause of death: ICD10: J18.0 Bronchopneumonia, unspecified; Underlying (primary) cause of death: ICD10: K63.1 Perforation of intestine (nontraumatic) rs574237169 chr17 29080430 - C T 0.000798722 ENST00000636100.1 ENSG00000196535 MYO18A New CDS in existing coding gene CDS ATG ATA M I Missense UK Biobank 1.98133335922e-09 5.99933 Underlying (primary) cause of death: ICD10: K63.1 Perforation of intestine (nontraumatic) Intestine perforation 2.99759275212358e-09; 1.98133335921692e-09 5.93173; 5.99933 Underlying (primary) cause of death: ICD10: C10.9 Oropharynx, unspecified; Underlying (primary) cause of death: ICD10: K63.1 Perforation of intestine (nontraumatic) rs111911206 chr10 23239770 - G A 0.000998403 ENST00000636213.1 ENSG00000179133 C10orf67 New CDS in existing coding gene CDS CGT TGT R C Missense UK Biobank 2.16e-09 5.98512 Home area population density - urban or rural: England/Wales - Village - sparse Sparse population 2.16E-09 5.98512 Home area population density - urban or rural: England/Wales - Village - sparse rs151061834 chr12 132509586 + C T 0.00179712 ENST00000542061.2;ENST00000542061.2 ENSG00000112787 FBRSL1 New CDS in existing coding gene CDS CGC TGC R C Missense UK Biobank 2.50269698382e-09 5.96128 Treatment/medication code: nizatidine Nizatidine 2.50269698381713e-09; 4.59189639898426e-08; 1.69330711562041e-08 5.96128; 5.46643; 5.64073 Treatment/medication code: nizatidine; Treatment/medication code: mirapexin 0.088mg tablet; Underlying (primary) cause of death: ICD10: W10.0 Home rs7077718 chr10 99929621 - G C 0.486821 ENST00000636706.1 ENSG00000107554 DNMBP New CDS in existing coding gene CDS AGC AGG S R Missense UK Biobank 2.59e-09 5.9558 Pulse rate, automated reading Pulse rate 2.59E-09 5.9558 Pulse rate, automated reading rs188576887 chr19 15439162 - C T 0.00119808 ENST00000643092.1 ENSG00000011451 WIZ New CDS in existing coding gene CDS CGC CAC R H Missense UK Biobank 3.02e-09 5.93065 Underlying (primary) cause of death: ICD10: I51.7 Cardiomegaly Cardiomegaly 3.02E-09 5.93065 Underlying (primary) cause of death: ICD10: I51.7 Cardiomegaly rs566359642 chr19 15438824 - C T 0.000199681 ENST00000643092.1 ENSG00000011451 WIZ New CDS in existing coding gene CDS GCG ACG A T Missense UK Biobank 4.14376055221e-09 5.87835 Underlying (primary) cause of death: ICD10: I71.1 Thoracic aortic aneurysm, ruptured Aneurysm 5.11214385796885e-09; 4.14376055221229e-09 5.84348; 5.87835 Treatment/medication code: isosorbide dinitrate; Underlying (primary) cause of death: ICD10: I71.1 Thoracic aortic aneurysm, ruptured rs537059021 chr2 73081494 - C T 0.000599042 ENST00000486777.6 ENSG00000135631 RAB11FIP5 New CDS in existing coding gene CDS GCC ACC A T Missense UK Biobank 4.23e-09 5.87504 Treatment/medication code: sandrena 0.5mg gel Sandrena 4.23E-09 5.87504 Treatment/medication code: sandrena 0.5mg gel rs764620825 chr1 6455808 + C T NA ENST00000636330.1;ENST00000636330.1 ENSG00000187017 ESPN New CDS in existing coding gene CDS CGG TGG R W Missense UK Biobank 4.27075466225e-09 5.87335 Diagnoses - main ICD10: I89 Other non-infective disorders of lymphatic vessels and lymph nodes Lymph 2.14611627971182e-08; 4.27075466224796e-09 5.59979; 5.87335 Underlying (primary) cause of death: ICD10: X59.0 Home; Diagnoses - main ICD10: I89 Other non-infective disorders of lymphatic vessels and lymph nodes rs188941138 chr17 29080737 - C G 0.00219649 ENST00000636100.1 ENSG00000196535 MYO18A New CDS in existing coding gene CDS CGC CCC R P Missense UK Biobank 4.33e-09 5.87097 Underlying (primary) cause of death: ICD10: K70.3 Alcoholic cirrhosis of liver Cirrhosis 4.33E-09 5.87097 Underlying (primary) cause of death: ICD10: K70.3 Alcoholic cirrhosis of liver rs531023471 chr15 82699845 - C G 0.000199681 ENST00000642989.1 ENSG00000103723 AP3B2 New CDS in existing coding gene CDS GTG CTG V L Missense UK Biobank 4.5e-09 5.86475 Underlying (primary) cause of death: ICD10: C02.9 Tongue, unspecified Tongue 4.50E-09 5.86475 Underlying (primary) cause of death: ICD10: C02.9 Tongue, unspecified rs10794529 chr1 26356517 - A C 0.256989 ENST00000475866.3;ENST00000475866.3 ENSG00000176092 CRYBG2 New CDS in existing coding gene CDS CTG CGG L R Missense UK Biobank 4.65e-09 -5.85931 Sitting height Sitting height 4.65E-09 -5.85931 Sitting height rs181750463 chr8 11808562 + G C 0.00259585 ENST00000525954.5 ENSG00000079459 FDFT1 New CDS in existing coding gene CDS AAG AAC K N Missense UK Biobank 5.05e-09 5.84539 Pulse rate, automated reading Pulse rate 5.05E-09 5.84539 Pulse rate, automated reading rs11145465 chr9 69151677 + C A ENST00000636438.1 ENSG00000119139 TJP2 New CDS in existing coding gene CDS TCT TAT S Y Missense EBI 7e-09 NA Refractive error Refractive error 7.00E-09 NA Refractive error rs111947851 chr4 17876018 - G T 0.00279553 ENST00000635767.1 ENSG00000178177 LCORL New CDS in existing coding gene CDS CCT CAT P H Missense UK Biobank 8.5e-09 -5.75822 Standing height Height 8.50E-09 -5.75822 Standing height rs79917926 chr19 15439769 - C T 0.000998403 ENST00000643092.1 ENSG00000011451 WIZ New CDS in existing coding gene CDS GGC AGC G S Missense UK Biobank 9.06e-09 5.74741 Treatment/medication code: solaraze 3% gel Solaraze 9.06E-09 5.74741 Treatment/medication code: solaraze 3% gel rs145025288 chr9 35308249 + T G 0.00219649 ENST00000635942.1 ENSG00000198722 UNC13B New CDS in existing coding gene CDS TGT GGT C G Missense UK Biobank 2.04e-08 5.6089 Treatment/medication code: avandamet 1mg / 500mg tablet Avandamet 2.04E-08 5.6089 Treatment/medication code: avandamet 1mg / 500mg tablet rs151227972 chr10 95992627 + G A 0.00179712 ENST00000636965.1;ENST00000646931.1 ENSG00000188649 CC2D2B New CDS in existing coding gene CDS GGA AGA G R Missense UK Biobank 2.51e-08 5.57243 Home area population density - urban or rural: England/Wales - Village - sparse Sparse population 2.51E-08 5.57243 Home area population density - urban or rural: England/Wales - Village - sparse rs34236994 chr12 120216281 - G C 0.112819 ENST00000637386.1;ENST00000637617.1 ENSG00000089159 PXN New CDS in existing coding gene CDS CCG GCG P A Missense UK Biobank 2.53e-08 -5.57153 Trunk fat mass Fat mass 2.53E-08 -5.57153 Trunk fat mass rs117490431 chr12 25011374 + C T 0.00119808 ENST00000636465.1 ENSG00000118308 LRMP New CDS in existing coding gene CDS TCA TTA S L Missense UK Biobank 2.79e-08 5.55389 Treatment/medication code: dorzolamide+timolol Dorzolamide+timolol 2.79E-08 5.55389 Treatment/medication code: dorzolamide+timolol rs142336709 chr13 113406992 - T C 0.0101837 ENST00000612156.2 ENSG00000153531 ADPRHL1 New CDS in existing coding gene CDS ACG GCG T A Missense UK Biobank 2.99e-08 5.54228 Underlying (primary) cause of death: ICD10: C82.9 Follicular non-Hodgkin's lymphoma, unspecified Non-Hodgkin lymphoma 2.99E-08 5.54228 Underlying (primary) cause of death: ICD10: C82.9 Follicular non-Hodgkin's lymphoma, unspecified rs113380566 chr9 136332097 + C T 0.0105831 ENST00000354753.7 ENSG00000160360 GPSM1 New CDS in existing coding gene CDS CGC TGC R C Missense UK Biobank 3.76e-08 5.50165 Treatment/medication code: almotriptan Almotriptan 3.76E-08 5.50165 Treatment/medication code: almotriptan rs4077093 chr12 51199833 - T G 0.140775 ENST00000333640.11;ENST00000550824.6 ENSG00000184271 POU6F1 New CDS in existing coding gene CDS ACT;CAC CCT;CCC T;H P Missense UK Biobank 4.51e-08 -5.46947 Body mass index (BMI) Body mass index 4.51E-08 -5.46947 Body mass index (BMI) rs114548251 chr4 17876273 - T C 0.00459265 ENST00000635767.1 ENSG00000178177 LCORL New CDS in existing coding gene CDS AAT AGT N S Missense UK Biobank 4.72e-08 5.46151 Sitting height Sitting height 4.72E-08 5.46151 Sitting height