Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut FLNC 2318 broad.mit.edu 37 7 128480207 128480207 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:128480207G>A ENST00000325888.8 + 9 1803 c.1542G>A c.(1540-1542)aaG>aaA p.K514K FLNC_ENST00000346177.6_Silent_p.K514K NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 514 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TCACGGTCAAGGGGCCAAGTG 0.627000 27 67 0 0 0.006320 0 0 A1CF 29974 broad.mit.edu 37 10 52603882 52603882 + Splice_Site SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr10:52603882C>T ENST00000395489.2 - 6 475 c.78_splice c.e6-1 p.E27_splice A1CF_ENST00000373995.3_Splice_Site_p.E42_splice|A1CF_ENST00000373997.3_Splice_Site_p.E34_splice|A1CF_ENST00000282641.2_Splice_Site_p.E34_splice|A1CF_ENST00000374001.1_Splice_Site_p.E34_splice|A1CF_ENST00000373993.1_Splice_Site_p.E34_splice|A1CF_ENST00000395495.1_Splice_Site_p.E34_splice NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 34 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding p.E42K(2)|p.E34K(2) NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TGTCCATTTTCCTGCAAATCC 0.413000 8 14 0 0 0.003080 0 0 COASY 80347 broad.mit.edu 37 17 40714459 40714459 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:40714459C>T ENST00000590958.1 + 2 155 c.30C>T c.(28-30)ccC>ccT p.P10P COASY_ENST00000421097.2_Intron|COASY_ENST00000420359.1_5'UTR|COASY_ENST00000393818.2_5'UTR|COASY_ENST00000449624.1_Intron Q13057 COASY_HUMAN CoA synthase 0 coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 21 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) GAGCACAGCCCCGAGGCGCCG 0.637000 15 47 0 0 0.006122 0 0 CXorf67 340602 broad.mit.edu 37 X 51150031 51150031 + Missense_Mutation SNP T T C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:51150031T>C ENST00000342995.2 + 1 265 c.163T>C c.(163-165)Tcg>Ccg p.S55P chromosome X open reading frame 67 breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1) 21 AGCATCTCCCTCGGGCGGCGC 0.652000 5 20 0 0 0.001168 0 0 SCN3A 6328 broad.mit.edu 37 2 165947448 165947448 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:165947448C>T ENST00000360093.3 - 28 5706 c.5215G>A c.(5215-5217)Gga>Aga p.G1739R SCN3A_ENST00000283254.7_Missense_Mutation_p.G1739R|SCN3A_ENST00000409101.3_Missense_Mutation_p.G1690R|SCN3A_ENST00000540861.1_Missense_Mutation_p.G222R|AC013463.2_ENST00000431341.1_RNA NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1739 voltage-gated sodium channel complex voltage-gated sodium channel activity p.G1739R(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CCACAGTCTCCCTTAACTGAG 0.483000 8 33 0 0 0.003080 0 0 SCN10A 6336 broad.mit.edu 37 3 38793930 38793930 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:38793930C>T ENST00000449082.2 - 11 1534 c.1535G>A c.(1534-1536)cGa>cAa p.R512Q NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 512 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGAGATATCTCGGCCAGGGGA 0.587000 17 14 0 0 0.004007 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73944209 73944209 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:73944209C>T ENST00000476977.1 + 9 2927 c.1236C>T c.(1234-1236)atC>atT p.I412I GTF2IRD1_ENST00000265755.3_Silent_p.I412I|GTF2IRD1_ENST00000424337.2_Silent_p.I412I|GTF2IRD1_ENST00000455841.2_Silent_p.I444I|GTF2IRD1_ENST00000489094.1_3'UTR Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 412 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TGAAGCGGATCCTGGAGGAGC 0.597000 20 29 0 0 0.002780 0 0 TCF7 6932 broad.mit.edu 37 5 133473780 133473780 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr5:133473780C>T ENST00000395029.1 + 4 667 c.472C>T c.(472-474)Ccc>Tcc p.P158S TCF7_ENST00000321603.6_Missense_Mutation_p.P158S|TCF7_ENST00000520958.1_Missense_Mutation_p.P43S|TCF7_ENST00000518915.1_Missense_Mutation_p.P43S|TCF7_ENST00000378560.4_Missense_Mutation_p.P43S|TCF7_ENST00000432532.2_Missense_Mutation_p.P43S|TCF7_ENST00000321584.4_Missense_Mutation_p.P158S|TCF7_ENST00000378564.1_Missense_Mutation_p.P158S|TCF7_ENST00000342854.5_Missense_Mutation_p.P158S|TCF7_ENST00000395023.1_Missense_Mutation_p.P43S P36402 TCF7_HUMAN transcription factor 7 (T-cell specific, HMG-box) 158 cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(7)|lung(2)|skin(1) 12 Breast(839;0.058) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCACGGTGTCCCCCAACTCTC 0.587000 18 27 0 0 0.002780 0 0 ADC 113451 broad.mit.edu 37 1 33583638 33583638 + Missense_Mutation SNP G G C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:33583638G>C ENST00000294517.6 + 11 1752 c.1165G>C c.(1165-1167)Gcc>Ccc p.A389P ADC_ENST00000398167.1_Missense_Mutation_p.A409P|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Missense_Mutation_p.A409P|ADC_ENST00000373443.3_Missense_Mutation_p.A389P NM_052998.2 NP_443724.1 Q96A70 ADC_HUMAN arginine decarboxylase 389 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) CAACATGGGCGCCTACACTGT 0.637000 14 45 0 0 0.002450 0 0 ASTE1 28990 broad.mit.edu 37 3 130743531 130743531 + Missense_Mutation SNP A A G TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:130743531A>G ENST00000264992.3 - 3 1061 c.620T>C c.(619-621)tTc>tCc p.F207S ASTE1_ENST00000514044.1_Missense_Mutation_p.F207S NM_014065.2 NP_054784.2 Q2TB18 ASTE1_HUMAN asteroid homolog 1 (Drosophila) 207 DNA repair nuclease activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 22 CATATTGCTGAAGTGATGGCA 0.403000 6 31 0 0 0.001984 0 0 NFKB1 4790 broad.mit.edu 37 4 103498131 103498131 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr4:103498131G>A ENST00000226574.4 + 7 973 c.506G>A c.(505-507)gGa>gAa p.G169E NFKB1_ENST00000510638.1_3'UTR|NFKB1_ENST00000394820.4_Missense_Mutation_p.G168E|NFKB1_ENST00000505458.1_Missense_Mutation_p.G168E NM_001165412.1|NM_003998.3 NP_001158884.1|NP_003989.2 P19838 NFKB1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 168 RHD. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) TATAATCCTGGACTCTTGGTG 0.493000 4 29 0 0 0.000248 0 0 MN1 4330 broad.mit.edu 37 22 28192913 28192913 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr22:28192913C>T ENST00000302326.4 - 1 4573 c.3619G>A c.(3619-3621)Gtc>Atc p.V1207I NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 1207 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 GCGCTCTTGACCGCCTCGGAG 0.672000 T ETV6 """AML, meningioma""" 4 28 0 0 0.000248 0 0 SIGLEC12 89858 broad.mit.edu 37 19 51994940 51994940 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:51994940C>T ENST00000291707.3 - 8 1798 c.1743G>A c.(1741-1743)caG>caA p.Q581Q SIGLEC12_ENST00000598614.1_Silent_p.Q463Q NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 581 cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) CGATGGCCTCCTGTTCCTGTG 0.582000 19 46 0 0 0.002299 0 0 DNM2 1785 broad.mit.edu 37 19 10893721 10893721 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:10893721C>T ENST00000314646.5 + 6 938 c.774C>T c.(772-774)ttC>ttT p.F258F DNM2_ENST00000389253.4_Silent_p.F258F|DNM2_ENST00000585892.1_Silent_p.F258F|DNM2_ENST00000359692.6_Silent_p.F258F|DNM2_ENST00000355667.6_Silent_p.F258F|DNM2_ENST00000408974.4_Silent_p.F258F P50570 DYN2_HUMAN dynamin 2 258 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) AGAGGAAGTTCTTCCTCTCCC 0.592000 """F, N, Splice, Mis, O""" ETP ALL 9 38 0 0 0.006214 0 0 OR2L3 391192 broad.mit.edu 37 1 248224006 248224006 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:248224006C>T ENST00000359959.3 + 1 23 c.23C>T c.(22-24)tCa>tTa p.S8L OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) AATCAAACATCAACTGATTTC 0.393000 42 72 0 0 0.002222 0 0 GPATCH8 23131 broad.mit.edu 37 17 42476850 42476850 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:42476850G>A ENST00000434000.1 - 9 2643 c.2361C>T c.(2359-2361)tcC>tcT p.S787S GPATCH8_ENST00000591680.1_Silent_p.S865S Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 865 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) AACGCCGGGAGGAACGATGCG 0.542000 12 70 0 0 0.000978 0 0 MUTYH 4595 broad.mit.edu 37 1 45799205 45799205 + Silent SNP T T A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:45799205T>A ENST00000450313.1 - 3 443 c.228A>T c.(226-228)gtA>gtT p.V76V MUTYH_ENST00000372100.5_Silent_p.V59V|MUTYH_ENST00000354383.6_Silent_p.V49V|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372104.1_Silent_p.V48V|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000372110.3_Silent_p.V63V|MUTYH_ENST00000448481.1_Silent_p.V59V|MUTYH_ENST00000355498.2_Silent_p.V48V|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000372115.3_Silent_p.V62V|MUTYH_ENST00000372098.3_Silent_p.V73V|MUTYH_ENST00000456914.2_Silent_p.V48V NM_001128425.1|NM_012222.2 NP_001121897.1|NP_036354.1 Q9UIF7 MUTYH_HUMAN mutY homolog 73 depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) AGGCCTGCAATACCACCTCTT 0.592000 Mis colorectal Base excision repair (BER), DNA glycosylases MUTYH-associated polyposis 19 25 0 0 0.007413 0 0 MUC2 4583 broad.mit.edu 37 11 1097261 1097261 + Missense_Mutation SNP T T C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr11:1097261T>C ENST00000441003.2 + 35 6704 c.6677T>C c.(6676-6678)gTg>gCg p.V2226A MUC2_ENST00000361558.6_Missense_Mutation_p.V364A NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4588 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ATCAACTACGTGGTGGACATC 0.612000 15 10 0 0 0.003163 0 0 ARPC1B 10095 broad.mit.edu 37 7 98988584 98988584 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:98988584C>T ENST00000451682.1 + 8 878 c.569C>T c.(568-570)cCc>cTc p.P190L ARPC1B_ENST00000252725.5_Missense_Mutation_p.P190L O15143 ARC1B_HUMAN actin related protein 2/3 complex, subunit 1B, 41kDa 190 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1) 11 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TCCAAGATGCCCTTTGGGGAA 0.592000 25 55 0 0 0.003954 0 0 ZNF555 148254 broad.mit.edu 37 19 2851627 2851627 + Missense_Mutation SNP A A G TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:2851627A>G ENST00000334241.4 + 3 430 c.292A>G c.(292-294)Aca>Gca p.T98A ZNF555_ENST00000591539.1_Missense_Mutation_p.T98A|AC006130.3_ENST00000589365.1_RNA NM_001172775.1|NM_152791.4 NP_001166246.1|NP_690004.4 Q8NEP9 ZN555_HUMAN zinc finger protein 555 98 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4) 23 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGATCAAACCACAAACCAGGG 0.393000 3 18 0 0 0.004672 0 0 MYH4 4622 broad.mit.edu 37 17 10364279 10364279 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:10364279G>A ENST00000255381.2 - 12 1211 c.1101C>T c.(1099-1101)ttC>ttT p.F367F CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 367 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCTTTTGCTTGAATTTCATGT 0.478000 23 36 0 0 0.003954 0 0 MEX3A 92312 broad.mit.edu 37 1 156046378 156046378 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:156046378C>T ENST00000532414.2 - 2 1549 c.1550G>A c.(1549-1551)cGa>cAa p.R517Q NM_001093725.1 NP_001087194.1 A1L020 MEX3A_HUMAN mex-3 RNA binding family member A 517 cytoplasmic mRNA processing body|nucleus RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 Hepatocellular(266;0.158)|all_neural(408;0.195) GGAGAATATTCGGATGGCTTG 0.587000 24 44 0 0 0.004656 0 0 SPTA1 6708 broad.mit.edu 37 1 158612245 158612245 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:158612245G>A ENST00000368148.3 - 33 4873 c.4693C>T c.(4693-4695)Ctg>Ttg p.L1565L SPTA1_ENST00000368147.3_Silent_p.L1565L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1565 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CACTCAATCAGGGAGTTCCCC 0.473000 18 20 0 0 0.007413 0 0 C1GALT1 56913 broad.mit.edu 37 7 7278375 7278375 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:7278375C>T ENST00000436587.2 + 3 933 c.710C>T c.(709-711)tCc>tTc p.S237F C1GALT1_ENST00000402468.3_Missense_Mutation_p.S237F|C1GALT1_ENST00000223122.2_Missense_Mutation_p.S237F NM_020156.3 NP_064541.1 Q9NS00 C1GLT_HUMAN core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 237 angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) CATAGTTCCTCCATTGAAGAC 0.403000 9 26 0 0 0.004482 0 0 LSM14B 149986 broad.mit.edu 37 20 60705702 60705702 + Nonsense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr20:60705702C>T ENST00000253001.4 + 6 996 c.790C>T c.(790-792)Cga>Tga p.R264* LSM14B_ENST00000279068.6_Nonsense_Mutation_p.R264* Q9BX40 LS14B_HUMAN LSM14B, SCD6 homolog B (S. cerevisiae) 264 DFDF. multicellular organismal development|regulation of translation ribonucleoprotein complex endometrium(3)|kidney(1)|lung(4) 8 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) CCAGTTCAACCGAGAGGAGCT 0.403000 14 26 0 0 0.003163 0 0 CCDC11 220136 broad.mit.edu 37 18 47778002 47778002 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr18:47778002C>T ENST00000398545.4 - 4 743 c.626G>A c.(625-627)cGa>cAa p.R209Q NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 209 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) CTTGGCTAATCGGTCTTCCTC 0.527000 55 75 0 0 0.003610 0 0 GK2 2712 broad.mit.edu 37 4 80328679 80328679 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr4:80328679G>A ENST00000358842.3 - 1 693 c.676C>T c.(676-678)Cca>Tca p.P226S NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 226 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity p.P226S(1) autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 AGGTCCATTGGAATTTCAAAA 0.408000 8 19 0 0 0.003080 0 0 PARP1 142 broad.mit.edu 37 1 226566965 226566965 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:226566965G>A ENST00000366794.5 - 12 1766 c.1623C>T c.(1621-1623)caC>caT p.H541H NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 541 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) CATGCGCAGAGTGTTCCAGTC 0.547000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 20 101 0 0 0.003954 0 0 NPLOC4 55666 broad.mit.edu 37 17 79573742 79573742 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:79573742G>A ENST00000374747.5 - 7 758 c.629C>T c.(628-630)cCg>cTg p.P210L NPLOC4_ENST00000539314.1_Missense_Mutation_p.P49L|NPLOC4_ENST00000331134.6_Missense_Mutation_p.P210L|NPLOC4_ENST00000574344.1_5'UTR Q8TAT6 NPL4_HUMAN nuclear protein localization 4 homolog (S. cerevisiae) 210 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) GATGGCGCTCGGCTGGCACTT 0.532000 14 24 0 0 0.003163 0 0 LONRF2 164832 broad.mit.edu 37 2 100919490 100919490 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:100919490C>T ENST00000393437.3 - 3 1453 c.814G>A c.(814-816)Gct>Act p.A272T LONRF2_ENST00000409647.1_Missense_Mutation_p.A29T NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 272 proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 AGAGCCTGAGCTTTTACTTGA 0.368000 6 65 0 0 0.001168 0 0 TTYH1 57348 broad.mit.edu 37 19 54930426 54930426 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:54930426C>T ENST00000301194.4 + 2 373 c.251C>T c.(250-252)tCg>tTg p.S84L TTYH1_ENST00000376531.3_Missense_Mutation_p.S84L|TTYH1_ENST00000391739.3_Missense_Mutation_p.S133L|TTYH1_ENST00000376530.3_Missense_Mutation_p.S84L Q9H313 TTYH1_HUMAN tweety family member 1 84 cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) AAGATCCCCTCGCCCGGGGGA 0.706000 6 27 0 0 0.001168 0 0 SSX9 280660 broad.mit.edu 37 X 48163767 48163767 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:48163767C>T ENST00000376909.1 - 3 141 c.79G>A c.(79-81)Gat>Aat p.D27N SSX9_ENST00000407081.2_Missense_Mutation_p.D27N breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1) 8 TTGGCAATATCATCGAAGGCC 0.428000 13 35 0 0 0.001855 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6114543 6114543 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr4:6114543G>A ENST00000409021.3 - 2 484 c.35C>T c.(34-36)cCc>cTc p.P12L JAKMIP1_ENST00000282924.5_Missense_Mutation_p.P12L|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.P12L|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.P12L|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.P12L NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 12 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CTCCATCTCGGGCTTCTCGCC 0.612000 9 25 0 0 0.006214 0 0 IQCF3 401067 broad.mit.edu 37 3 51863696 51863696 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:51863696G>A ENST00000456080.1 + 7 1199 c.34G>A c.(34-36)Gaa>Aaa p.E12K IQCF3_ENST00000446775.1_Missense_Mutation_p.E12K|IQCF3_ENST00000437810.2_Missense_Mutation_p.E12K|IQCF3_ENST00000440739.2_Missense_Mutation_p.E12K|IQCF3_ENST00000444293.1_Missense_Mutation_p.E12K P0C7M6 IQCF3_HUMAN IQ motif containing F3 12 endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TGGTCCAGATGAAGATGCAGT 0.527000 4 17 0 0 0.000248 0 0 ARPC1B 10095 broad.mit.edu 37 7 98988585 98988585 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:98988585C>T ENST00000451682.1 + 8 879 c.570C>T c.(568-570)ccC>ccT p.P190P ARPC1B_ENST00000252725.5_Silent_p.P190P O15143 ARC1B_HUMAN actin related protein 2/3 complex, subunit 1B, 41kDa 190 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1) 11 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) CCAAGATGCCCTTTGGGGAAC 0.587000 25 56 0 0 0.003954 0 0 NRP2 8828 broad.mit.edu 37 2 206641046 206641046 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:206641046C>T ENST00000357118.4 + 16 2533 c.2502C>T c.(2500-2502)taC>taT p.Y834Y NRP2_ENST00000357785.5_Intron|NRP2_ENST00000272849.3_Silent_p.Y839Y|NRP2_ENST00000540178.1_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000412873.2_Intron NM_201267.1 NP_957719.1 O60462 NRP2_HUMAN neuropilin 2 0 angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 ACTGGTATTACGTAATGGCCG 0.662000 OREG0015157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 40 0 0 0.002780 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16816142 16816142 + Nonsense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr11:16816142G>A ENST00000355661.3 - 19 2648 c.2638C>T c.(2638-2640)Cga>Tga p.R880* PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.R880*|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.R880* Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 880 Pro-rich. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 GGGAAGAGTCGAACCTCCAGA 0.622000 25 40 0 0 0.003330 0 0 VWA5A 4013 broad.mit.edu 37 11 123988472 123988472 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr11:123988472C>T ENST00000456829.2 + 4 387 c.136C>T c.(136-138)Cct>Tct p.P46S VWA5A_ENST00000361352.5_Missense_Mutation_p.P46S|VWA5A_ENST00000360334.4_Missense_Mutation_p.P46S|VWA5A_ENST00000449321.1_Missense_Mutation_p.P46S|VWA5A_ENST00000392744.4_Missense_Mutation_p.P62S|VWA5A_ENST00000392748.1_Missense_Mutation_p.P46S NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 46 VIT. autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 GGAGAAAGTTCCTTTGGAGGC 0.458000 28 38 0 0 0.002445 0 0 CDCP1 64866 broad.mit.edu 37 3 45130573 45130573 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:45130573C>T ENST00000296129.1 - 8 2188 c.2054G>A c.(2053-2055)gGg>gAg p.G685E NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 685 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) AATGATGAGCCCGAGGGCAGA 0.483000 5 24 0 0 0.000602 0 0 CNTN1 1272 broad.mit.edu 37 12 41333227 41333227 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr12:41333227C>T ENST00000551295.2 + 12 1436 c.1319C>T c.(1318-1320)gCt>gTt p.A440V CNTN1_ENST00000547849.1_Missense_Mutation_p.A440V|CNTN1_ENST00000547702.1_Missense_Mutation_p.A440V|CNTN1_ENST00000348761.2_Missense_Mutation_p.A429V|CNTN1_ENST00000360099.3_Missense_Mutation_p.A440V|CNTN1_ENST00000347616.1_Missense_Mutation_p.A440V NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 440 Ig-like C2-type 5. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) AAACCTAAAGCTGCACCGAAA 0.403000 3 7 0 0 0.000248 0 0 KCNT1 57582 broad.mit.edu 37 9 138657500 138657500 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr9:138657500G>A ENST00000298480.5 + 13 1305 c.1231G>A c.(1231-1233)Gag>Aag p.E411K KCNT1_ENST00000371757.2_Missense_Mutation_p.E411K|KCNT1_ENST00000263604.3_Missense_Mutation_p.E392K|KCNT1_ENST00000488444.2_Missense_Mutation_p.E392K|KCNT1_ENST00000490355.2_Missense_Mutation_p.E392K|KCNT1_ENST00000491806.2_Missense_Mutation_p.E378K|KCNT1_ENST00000487664.1_Missense_Mutation_p.E366K|KCNT1_ENST00000486577.2_Missense_Mutation_p.E372K B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 411 membrane binding|calcium-activated potassium channel activity p.E411K(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) GTGCCCCACGGAGATGGATGT 0.662000 4 9 0 0 0.000248 0 0 ZNF79 7633 broad.mit.edu 37 9 130206524 130206524 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr9:130206524C>T ENST00000342483.5 + 5 951 c.545C>T c.(544-546)tCg>tTg p.S182L ZNF79_ENST00000543471.1_Missense_Mutation_p.S158L NM_007135.2 NP_009066.2 Q15937 ZNF79_HUMAN zinc finger protein 79 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2) 28 TTCAAGAACTCGGAAATCCTG 0.488000 29 13 0 0 0.007291 0 0 LPHN1 22859 broad.mit.edu 37 19 14266174 14266174 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:14266174C>T ENST00000340736.6 - 19 3603 c.3306G>A c.(3304-3306)aaG>aaA p.K1102K LPHN1_ENST00000361434.3_Silent_p.K1097K|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 1102 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACCTCACCTTCTTCTGTAAGG 0.592000 33 66 0 0 0.006230 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148800398 148800398 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr4:148800398G>A ENST00000336498.3 + 9 1087 c.848G>A c.(847-849)gGt>gAt p.G283D NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 283 PH. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) GCTCCGTTTGGTTCCAGTTGG 0.388000 20 33 0 0 0.008871 0 0 CLC 1178 broad.mit.edu 37 19 40222086 40222086 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:40222086C>T ENST00000221804.4 - 4 438 c.363G>A c.(361-363)gtG>gtA p.V121V NM_001828.5 NP_001819.2 Q05315 LPPL_HUMAN Charcot-Leyden crystal galectin 121 Galectin. lipid catabolic process|multicellular organismal development carboxylesterase activity|lysophospholipase activity|sugar binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1) 12 all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06) Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255) Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23) GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655) GCACCATCTTCACAGCCTCAG 0.408000 8 51 0 0 0.003080 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460052 107460052 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:107460052C>T ENST00000409382.3 - 2 992 c.382G>A c.(382-384)Gat>Aat p.D128N ST6GAL2_ENST00000409087.3_Missense_Mutation_p.D128N|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.D128N NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 128 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.D128N(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 TAGTCGTCATCCTCCGGGTAG 0.552000 26 108 0 0 0.004656 0 0 ZYX 7791 broad.mit.edu 37 7 143087006 143087006 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:143087006G>A ENST00000322764.5 + 9 1895 c.1550G>A c.(1549-1551)cGa>cAa p.R517Q ZYX_ENST00000392910.2_Missense_Mutation_p.R360Q|ZYX_ENST00000449423.2_Missense_Mutation_p.R430Q NM_001010972.1|NM_003461.4 NP_001010972.1|NP_003452.1 Q15942 ZYX_HUMAN zyxin 517 LIM zinc-binding 3. cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1) 17 Melanoma(164;0.205) GAGCCTGGCCGAGATGAGACT 0.597000 21 56 0 0 0.001882 0 0 MIR891A 100126341 broad.mit.edu 37 X 145109374 145109374 + RNA SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:145109374C>T ENST00000401237.1 - 0 16 NR_030581.1 GGCTCAGGTTCGTTGCAAGGA 0.388000 4 16 0 0 0.000248 0 0 SCN8A 6334 broad.mit.edu 37 12 52159762 52159762 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr12:52159762C>T ENST00000354534.5 + 16 3030 c.2852C>T c.(2851-2853)gCc>gTc p.A951V SCN8A_ENST00000550891.1_Missense_Mutation_p.A951V|SCN8A_ENST00000545061.1_Missense_Mutation_p.A951V NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 951 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) GCAGGCCAGGCCATGTGCCTC 0.448000 71 100 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9066695 9066695 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:9066695C>T ENST00000397910.4 - 3 20954 c.20751G>A c.(20749-20751)atG>atA p.M6917I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6919 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGTGGTATCCATTGGAGCTG 0.463000 21 130 0 0 0.003330 0 0 LAMA1 284217 broad.mit.edu 37 18 6978348 6978348 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr18:6978348C>T ENST00000389658.3 - 43 6130 c.6037G>A c.(6037-6039)Gag>Aag p.E2013K NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2013 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTGGCCAGCTCTTTGGTTTTG 0.507000 27 47 0 0 0.007291 0 0 PSG2 5670 broad.mit.edu 37 19 43585315 43585315 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:43585315C>T ENST00000406487.1 - 2 246 c.148G>A c.(148-150)Gat>Aat p.D50N NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 50 Ig-like V-type. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) AGAAGAACATCCTTCCCCTCG 0.473000 13 74 0 0 0.002780 0 0 EPHB1 2047 broad.mit.edu 37 3 134898712 134898712 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:134898712G>A ENST00000398015.3 + 10 2140 c.1770G>A c.(1768-1770)ggG>ggA p.G590G EPHB1_ENST00000493838.1_Silent_p.G151G NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 590 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GCTCCCCAGGGATGAAGATCT 0.488000 43 59 0 0 0.003610 0 0 GALNT6 11226 broad.mit.edu 37 12 51759262 51759262 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr12:51759262C>T ENST00000543196.2 - 4 971 c.766G>A c.(766-768)Ggg>Agg p.G256R GALNT6_ENST00000356317.3_Missense_Mutation_p.G256R Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 256 Catalytic subdomain A. protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 ACGCTGGCCCCCAGCAGCCGG 0.662000 26 26 0 0 0.006320 0 0 DNAH3 55567 broad.mit.edu 37 16 21122990 21122990 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr16:21122990G>A ENST00000261383.3 - 14 2055 c.2056C>T c.(2056-2058)Ctg>Ttg p.L686L DNAH3_ENST00000415178.1_Silent_p.L686L NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 686 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AATTGAATCAGATGGTCTTTA 0.438000 4 29 0 0 0.000602 0 0 KCNJ15 3772 broad.mit.edu 37 21 39672055 39672055 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr21:39672055G>A ENST00000398930.1 + 4 1226 c.872G>A c.(871-873)aGc>aAc p.S291N KCNJ15_ENST00000398934.1_Missense_Mutation_p.S291N|KCNJ15_ENST00000398932.1_Missense_Mutation_p.S291N|KCNJ15_ENST00000398938.2_Missense_Mutation_p.S291N|KCNJ15_ENST00000328656.3_Missense_Mutation_p.S291N Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 291 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 GAATCCACCAGCGCTGTCTGC 0.498000 6 28 0 0 0.001168 0 0 UGT3A1 133688 broad.mit.edu 37 5 35954507 35954507 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr5:35954507C>T ENST00000274278.3 - 7 1726 c.1369G>A c.(1369-1371)Ggc>Agc p.G457S NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 457 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCGATCCAGCCCACCAGCCGC 0.607000 6 18 0 0 0.001168 0 0 ACPL2 92370 broad.mit.edu 37 3 141011771 141011771 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:141011771G>A ENST00000508812.1 + 5 3047 c.1140G>A c.(1138-1140)ttG>ttA p.L380L ACPL2_ENST00000393010.2_Silent_p.L389L|ACPL2_ENST00000393007.1_Silent_p.L373L|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000504264.1_Silent_p.L372L|ACPL2_ENST00000502783.1_Silent_p.L351L|ACPL2_ENST00000286353.4_Silent_p.L389L Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 389 extracellular region acid phosphatase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 TCAGTGCCTTGGGCCTTTCAG 0.537000 23 103 0 0 0.004656 0 0 GNPAT 8443 broad.mit.edu 37 1 231403528 231403528 + Missense_Mutation SNP G G T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:231403528G>T ENST00000366647.4 + 9 1327 c.1158G>T c.(1156-1158)tgG>tgT p.W386C GNPAT_ENST00000366646.3_Missense_Mutation_p.W325C NM_014236.3 NP_055051.1 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 386 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 23 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) TGAGCCCCTGGACCCTAATAG 0.453000 34 62 1.45844e-13 2.51016e-13 0.002836 1 0 PCNT 5116 broad.mit.edu 37 21 47841920 47841920 + Missense_Mutation SNP G G A rs144775948 TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr21:47841920G>A ENST00000359568.5 + 32 7168 c.7061G>A c.(7060-7062)gGg>gAg p.G2354E PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2354 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CTGAGCCCGGGGTCAGGAGGC 0.617000 14 59 0 0 0.003163 0 0 DSCAML1 57453 broad.mit.edu 37 11 117329567 117329567 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr11:117329567C>T ENST00000321322.6 - 19 3652 c.3651G>A c.(3649-3651)atG>atA p.M1217I DSCAML1_ENST00000527706.1_Missense_Mutation_p.M947I NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1157 Fibronectin type-III 4. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TGAACTTCTCCATGCCCCGCA 0.632000 22 32 0 0 0.002299 0 0 MB21D1 115004 broad.mit.edu 37 6 74155279 74155279 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr6:74155279G>A ENST00000370315.3 - 2 943 c.849C>T c.(847-849)atC>atT p.I283I MB21D1_ENST00000370318.1_Silent_p.I283I NM_138441.2 NP_612450.2 Q8N884 M21D1_HUMAN Mab-21 domain containing 1 283 central_nervous_system(1)|large_intestine(4)|lung(1) 6 CTTCCTTAATGATTTTCCTAA 0.308000 12 17 0 0 0.001368 0 0 VIPR2 7434 broad.mit.edu 37 7 158829468 158829468 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:158829468G>A ENST00000262178.2 - 7 908 c.723C>T c.(721-723)ttC>ttT p.F241F VIPR2_ENST00000377633.3_Silent_p.F225F|VIPR2_ENST00000402066.1_Silent_p.F382F NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 241 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) GGTAGGCCAGGAAGCACCTTC 0.582000 8 20 0 0 0.003080 0 0 JPH3 57338 broad.mit.edu 37 16 87678398 87678398 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr16:87678398C>T ENST00000284262.2 + 2 1159 c.917C>T c.(916-918)tCg>tTg p.S306L NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 306 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) AGCCAGCGCTCGGACGGGCTC 0.657000 9 30 0 0 0.006214 0 0 SDE2 163859 broad.mit.edu 37 1 226179048 226179048 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:226179048G>A ENST00000272091.7 - 5 555 c.537C>T c.(535-537)tcC>tcT p.S179S SDE2_ENST00000366817.1_Silent_p.S84S NM_152608.3 NP_689821.3 SDE2 telomere maintenance homolog (S. pombe) CCATCTTGCTGGAGGCAGCCT 0.418000 16 44 0 0 0.004990 0 0 SULT1C3 442038 broad.mit.edu 37 2 108868931 108868931 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:108868931C>T ENST00000376700.1 + 2 283 c.283C>T c.(283-285)Ccc>Tcc p.P95S SULT1C3_ENST00000329106.2_Missense_Mutation_p.P95S Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 95 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 ACTGAAATTTCCCCATAAAGA 0.398000 4 8 0 0 0.000602 0 0 HN1L 90861 broad.mit.edu 37 16 1747840 1747840 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr16:1747840G>A ENST00000248098.3 + 4 421 c.364G>A c.(364-366)Gaa>Aaa p.E122K HN1L_ENST00000562684.1_Missense_Mutation_p.E150K|HN1L_ENST00000561516.1_3'UTR|HN1L_ENST00000382711.5_Missense_Mutation_p.E106K|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000382710.4_Missense_Mutation_p.E110K|HN1L_ENST00000569765.1_3'UTR NM_144570.2 NP_653171.1 Q9H910 HN1L_HUMAN hematological and neurological expressed 1-like 122 cytoplasm|nucleus endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1) 9 TGAAGGAGAAGAACCAAAATC 0.403000 28 64 0 0 0.001786 0 0 PON3 5446 broad.mit.edu 37 7 94991698 94991698 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:94991698G>A ENST00000265627.5 - 8 892 c.882C>T c.(880-882)aaC>aaT p.N294N PON3_ENST00000427422.1_Intron|PON1_ENST00000542556.1_Intron NM_000940.2 NP_000931.1 paraoxonase 3 breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 24 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) GGTCCTCAGGGTTATAGTTCA 0.463000 10 18 0 0 0.008291 0 0 RELN 5649 broad.mit.edu 37 7 103126753 103126753 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:103126753C>T ENST00000428762.1 - 61 10033 c.9874G>A c.(9874-9876)Gga>Aga p.G3292R RELN_ENST00000343529.5_Missense_Mutation_p.G3292R|RELN_ENST00000424685.2_Missense_Mutation_p.G3292R|CTB-107G13.1_ENST00000422488.1_RNA NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 3292 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CAGCCACTTCCTATGACTCCA 0.507000 19 32 0 0 0.008871 0 0 FRS3 10817 broad.mit.edu 37 6 41738653 41738653 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr6:41738653C>T ENST00000373018.3 - 7 1434 c.1183G>A c.(1183-1185)Ggc>Agc p.G395S FRS3_ENST00000259748.2_Missense_Mutation_p.G395S NM_006653.3 NP_006644.1 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 395 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTTGGGGAGCCGCGGCGGCGG 0.662000 48 25 0 0 0.003610 0 0 BCAT1 586 broad.mit.edu 37 12 25031484 25031484 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr12:25031484G>A ENST00000261192.7 - 5 1016 c.490C>T c.(490-492)Cct>Tct p.P164S BCAT1_ENST00000539282.1_Missense_Mutation_p.P176S|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539780.1_Missense_Mutation_p.P127S|BCAT1_ENST00000538118.1_Missense_Mutation_p.P163S|BCAT1_ENST00000342945.5_Missense_Mutation_p.P103S NM_001178091.1|NM_005504.6 NP_001171562.1|NP_005495.2 P54687 BCAT1_HUMAN branched chain amino-acid transaminase 1, cytosolic 164 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity breast(1)|large_intestine(1)|lung(3)|prostate(2) 7 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) ATGAATGTAGGACGAATATAC 0.368000 3 16 0 0 0.000248 0 0 TSHZ1 10194 broad.mit.edu 37 18 72999751 72999751 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr18:72999751G>A ENST00000322038.5 + 2 2838 c.2254G>A c.(2254-2256)Gcc>Acc p.A752T TSHZ1_ENST00000580243.1_Missense_Mutation_p.A797T NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 797 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) GCAGGCCGATGCCATCGACCG 0.582000 11 31 0 0 0.001855 0 0 TRBV6-9 28598 broad.mit.edu 37 7 142104302 142104302 + RNA SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:142104302G>A ENST00000390379.1 - 0 162 GGGTCTTGTCGATACCAGGAC 0.507000 22 81 0 0 0.002299 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111956662 111956662 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr9:111956662G>A ENST00000374566.3 - 21 2578 c.2061C>T c.(2059-2061)ctC>ctT p.L687L NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 687 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGTCTGGAGGGAGGTCGTCTT 0.572000 26 32 0 0 0.005443 0 0 ARIH2 10425 broad.mit.edu 37 3 49002366 49002366 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:49002366C>T ENST00000356401.4 + 5 677 c.338C>T c.(337-339)tCt>tTt p.S113F ARIH2_ENST00000449376.1_Missense_Mutation_p.S113F|ARIH2_ENST00000490095.1_3'UTR NM_006321.2 NP_006312.1 O95376 ARI2_HUMAN ariadne RBR E3 ubiquitin protein ligase 2 113 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) AAGTCCAATTCTGCTCAACTG 0.388000 6 36 0 0 0.001168 0 0 MGAM 8972 broad.mit.edu 37 7 141731504 141731504 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:141731504C>T ENST00000475668.2 + 13 1549 c.1495C>T c.(1495-1497)Cct>Tct p.P499S MGAM_ENST00000549489.2_Missense_Mutation_p.P499S O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 499 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AACTGTGTTTCCTGATTATAC 0.363000 13 31 0 0 0.004990 0 0 SLC36A3 285641 broad.mit.edu 37 5 150663628 150663628 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr5:150663628G>A ENST00000335230.3 - 8 1362 c.951C>T c.(949-951)atC>atT p.I317I SLC36A3_ENST00000377713.3_Silent_p.I358I NM_181774.3 NP_861439.3 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 317 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 21 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGTTGAGGGTGATGCTGGCCT 0.502000 24 31 0 0 0.005443 0 0 DDX4 54514 broad.mit.edu 37 5 55081648 55081648 + Nonsense_Mutation SNP C C G rs146554855 TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr5:55081648C>G ENST00000505374.1 + 13 905 c.813C>G c.(811-813)taC>taG p.Y271* DDX4_ENST00000354991.5_Nonsense_Mutation_p.Y237*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.Y251*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.Y237*|DDX4_ENST00000511853.1_Nonsense_Mutation_p.Y122* NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 271 multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) TCGACAAATACGACACTATTC 0.433000 4 13 0 0 0.000248 0 0 CXorf56 63932 broad.mit.edu 37 X 118699269 118699269 + Missense_Mutation SNP C C A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:118699269C>A ENST00000371594.4 - 1 128 c.50G>T c.(49-51)cGg>cTg p.R17L CXorf56_ENST00000486230.1_Missense_Mutation_p.R17L|CXorf56_ENST00000476164.1_Missense_Mutation_p.R17L|CXorf56_ENST00000320339.4_5'UTR|CXorf56_ENST00000536133.1_Missense_Mutation_p.R17L NM_022101.3 NP_071384.1 Q9H5V9 CX056_HUMAN chromosome X open reading frame 56 17 protein binding cervix(1)|endometrium(2)|lung(7) 10 ATATTCCTCCCGGTCCCGAGT 0.572000 12 51 4.3838e-07 7.51237e-07 0.001855 1 0 FBXO10 26267 broad.mit.edu 37 9 37521707 37521707 + Nonsense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr9:37521707G>A ENST00000432825.2 - 8 2107 c.2059C>T c.(2059-2061)Cga>Tga p.R687* FBXO10_ENST00000541829.1_Nonsense_Mutation_p.R212*|RP11-613M10.8_ENST00000544475.1_5'UTR NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 687 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) CTGTGGCCTCGAGGTAACTCG 0.602000 17 11 0 0 0.001523 0 0 PLA2R1 22925 broad.mit.edu 37 2 160889546 160889546 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:160889546C>T ENST00000283243.7 - 4 971 c.765G>A c.(763-765)gaG>gaA p.E255E PLA2R1_ENST00000392771.1_Silent_p.E255E NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 255 C-type lectin 1. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 AAGAATGTGCCTCACTCCAAG 0.433000 9 42 0 0 0.006214 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48602289 48602289 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:48602289G>A ENST00000323776.5 + 13 1978 c.1816G>A c.(1816-1818)Gag>Aag p.E606K MYCBPAP_ENST00000436259.2_Missense_Mutation_p.E569K NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 569 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) AGTGCTGCAGGAGCTGCTGAT 0.587000 10 60 0 0 0.008291 0 0 KCNK17 89822 broad.mit.edu 37 6 39272382 39272382 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr6:39272382G>A ENST00000453413.2 - 3 542 c.402C>T c.(400-402)atC>atT p.I134I KCNK17_ENST00000373231.4_Silent_p.I134I NM_001135111.1 NP_001128583.1 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 134 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2) 14 GGGCAAAGAAGATGCAGAAGA 0.622000 67 56 0 0 0.003610 0 0 OR1G1 8390 broad.mit.edu 37 17 3030585 3030585 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:3030585G>A ENST00000328890.2 - 1 290 c.261C>T c.(259-261)atC>atT p.I87I NM_003555.1 NP_003546.1 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, member 1 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(3)|skin(3) 11 CCTGACTCTGGATCTGTATGT 0.483000 19 23 0 0 0.007413 0 0 KCNH6 81033 broad.mit.edu 37 17 61601675 61601675 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:61601675G>A ENST00000583023.1 + 2 263 c.252G>A c.(250-252)caG>caA p.Q84Q KCNH6_ENST00000580652.1_Silent_p.Q84Q|KCNH6_ENST00000456941.2_Silent_p.Q84Q|KCNH6_ENST00000581784.1_Silent_p.Q84Q|KCNH6_ENST00000314672.5_Silent_p.Q84Q NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 84 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) GCCTAGCGCAGGCCCTGCTGG 0.637000 20 42 0 0 0.002780 0 0 LIG4 3981 broad.mit.edu 37 13 108861056 108861056 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr13:108861056G>A ENST00000356922.4 - 2 2833 c.2561C>T c.(2560-2562)tCt>tTt p.S854F LIG4_ENST00000442234.1_Missense_Mutation_p.S854F|LIG4_ENST00000405925.1_Missense_Mutation_p.S854F NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 854 BRCT 2. cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) AGCTAAACAAGAAACTACTTT 0.373000 Non-homologous end-joining 19 31 0 0 0.002299 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115534631 115534631 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr10:115534631G>A ENST00000354462.3 + 3 216 c.58G>A c.(58-60)Gaa>Aaa p.E20K PLEKHS1_ENST00000361048.1_Missense_Mutation_p.E276K|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.E188K|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.E270K|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.E90K pleckstrin homology domain containing, family S member 1 CAGCAAAGAGGAACCCCAGAC 0.468000 10 28 0 0 0.001855 0 0 TNXB 7148 broad.mit.edu 37 6 32037579 32037579 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr6:32037579C>T ENST00000375244.3 - 15 5539 c.5338G>A c.(5338-5340)Gag>Aag p.E1780K TNXB_ENST00000375247.2_Missense_Mutation_p.E1780K P22105 TENX_HUMAN tenascin XB 1862 Fibronectin type-III 10. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.E1867K(1)|p.E1780K(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TGCAGCTCCTCCCCCAGACGG 0.577000 207 139 0 0 0.003610 0 0 DNAH9 1770 broad.mit.edu 37 17 11757400 11757400 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:11757400G>A ENST00000262442.3 + 50 9656 c.9588G>A c.(9586-9588)atG>atA p.M3196I DNAH9_ENST00000454412.2_Missense_Mutation_p.M3196I NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3196 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TGGTACTGATGGCTCCCAGGG 0.562000 9 30 0 0 0.004482 0 0 ADARB1 104 broad.mit.edu 37 21 46596523 46596523 + Nonsense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr21:46596523C>T ENST00000539173.1 + 4 1342 c.907C>T c.(907-909)Cag>Tag p.Q303* ADARB1_ENST00000348831.4_Nonsense_Mutation_p.Q303*|ADARB1_ENST00000360697.3_Nonsense_Mutation_p.Q303*|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000389863.4_Nonsense_Mutation_p.Q303* NM_015833.3 NP_056648.1 P78563 RED1_HUMAN adenosine deaminase, RNA-specific, B1 303 adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1) 17 Colorectal(79;0.115) GCACTTGGATCAGACGCCATC 0.547000 13 57 0 0 0.001855 0 0 MEOX2 4223 broad.mit.edu 37 7 15652164 15652164 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:15652164G>A ENST00000262041.5 - 3 1172 c.763C>T c.(763-765)Cgg>Tgg p.R255W NM_005924.4 NP_005915.2 P50222 MEOX2_HUMAN mesenchyme homeobox 2 255 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) TCCTTTTCCCGAGCCGCAGCT 0.512000 35 45 0 0 0.003755 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995727 140995727 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:140995727C>T ENST00000285879.4 + 4 2823 c.2537C>T c.(2536-2538)tCc>tTc p.S846F MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 846 protein binding p.P847fs*9(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCCAAGAGTTCCCCTGAGAGT 0.527000 HNSCC(15;0.026) 30 81 0 0 0.001786 0 0 CCDC6 8030 broad.mit.edu 37 10 61572503 61572503 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr10:61572503C>T ENST00000263102.6 - 5 968 c.737G>A c.(736-738)aGa>aAa p.R246K NM_005436.4 NP_005427.2 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 246 cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton CCDC6/RET(4) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1) 18 Kidney(211;0.0597) GGAGATATCTCTAGGCGATGG 0.408000 T RET NSCLC 5 13 0 0 0.000602 0 0 SEZ6 124925 broad.mit.edu 37 17 27284987 27284987 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:27284987C>T ENST00000317338.12 - 11 2708 c.2280G>A c.(2278-2280)gaG>gaA p.E760E SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Silent_p.E760E|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Silent_p.E760E Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 760 Sushi 3. integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) AGGGCAGGTCCTCACTCCAAG 0.562000 7 19 0 0 0.003080 0 0 SYT3 84258 broad.mit.edu 37 19 51135778 51135778 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:51135778C>T ENST00000338916.4 - 2 1072 c.439G>A c.(439-441)Gag>Aag p.E147K SYT3_ENST00000593901.1_Missense_Mutation_p.E147K|SYT3_ENST00000544769.1_Missense_Mutation_p.E147K|SYT3_ENST00000600079.1_Missense_Mutation_p.E147K NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 147 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) CTGCCTGGCTCCAGCAGCTCA 0.677000 3 11 0 0 0.004672 0 0 OR52N2 390077 broad.mit.edu 37 11 5842082 5842082 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr11:5842082G>A ENST00000317037.2 + 1 539 c.517G>A c.(517-519)Ggg>Agg p.G173R TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTATTGCCGGGGGAACTTCAT 0.517000 9 15 0 0 0.004482 0 0 C1orf177 163747 broad.mit.edu 37 1 55279566 55279566 + Missense_Mutation SNP T T G rs142853163 TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:55279566T>G ENST00000358193.3 + 7 896 c.842T>G c.(841-843)gTt>gGt p.V281G C1orf177_ENST00000371273.3_Missense_Mutation_p.V281G NM_152607.2 NP_689820.2 Q3ZCV2 CA177_HUMAN chromosome 1 open reading frame 177 281 breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2) 17 AAGCATGGGGTTTTTTCTAAA 0.443000 13 68 0 0 0.001855 0 0 PHKA1 5255 broad.mit.edu 37 X 71887314 71887314 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:71887314C>T ENST00000373545.3 - 7 1066 c.628G>A c.(628-630)Gaa>Aaa p.E210K PHKA1_ENST00000541944.1_Missense_Mutation_p.E210K|PHKA1_ENST00000373542.4_Missense_Mutation_p.E210K|PHKA1_ENST00000373539.3_Missense_Mutation_p.E210K|PHKA1_ENST00000339490.3_Missense_Mutation_p.E210K P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 210 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) TCTAATGCTTCCAGGGCTGCC 0.408000 7 21 0 0 0.003080 0 0 C6orf222 389384 broad.mit.edu 37 6 36287211 36287211 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr6:36287211G>A ENST00000437635.2 - 11 2022 c.1845C>T c.(1843-1845)aaC>aaT p.N615N NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 615 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 TGGCATGGCTGTTGCTGCCAG 0.562000 72 48 0 0 0.003610 0 0 CTBS 1486 broad.mit.edu 37 1 85029075 85029075 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:85029075G>A ENST00000370630.4 - 6 870 c.822C>T c.(820-822)gtC>gtT p.V274V CTBS_ENST00000477677.1_5'UTR NM_004388.2 NP_004379.1 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- 274 V -> I (in dbSNP:rs15911). lysosome cation binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 9 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) CCCGGAAAGGGACTTTTGCAA 0.383000 4 27 0 0 0.000248 0 0 NRAP 4892 broad.mit.edu 37 10 115401183 115401183 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr10:115401183C>T ENST00000369358.4 - 13 1508 c.1264G>A c.(1264-1266)Gga>Aga p.G422R NRAP_ENST00000369360.3_Missense_Mutation_p.G387R|NRAP_ENST00000359988.3_Missense_Mutation_p.G422R|NRAP_ENST00000360478.3_Missense_Mutation_p.G387R Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 422 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) ATACCAACTCCTTCATAGCGG 0.463000 8 20 0 0 0.006214 0 0 ABCB11 8647 broad.mit.edu 37 2 169836414 169836414 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:169836414G>A ENST00000263817.6 - 11 1283 c.1159C>T c.(1159-1161)Cgt>Tgt p.R387C NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 387 bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) GCTGCTGCACGTCCAGTTGCA 0.453000 4 10 0 0 0.000602 0 0 SLC25A6 293 broad.mit.edu 37 X 1508348 1508348 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:1508348G>A ENST00000381401.5 - 2 1098 c.384C>T c.(382-384)ctC>ctT p.L128L SLC25A6_ENST00000475167.1_5'UTR NM_001636.3 NP_001627.2 P12236 ADT3_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 128 active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle integral to membrane|mitochondrial inner membrane presequence translocase complex ATP:ADP antiporter activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Clodronate(DB00720) ACACGAAGCAGAGGGAGGTCG 0.662000 11 113 0 0 0.000978 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146997268 146997268 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:146997268C>T ENST00000361727.3 + 9 1900 c.1384C>T c.(1384-1386)Cgc>Tgc p.R462C NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 462 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GCACGAGGTTCGCTTCCTAGC 0.403000 HNSCC(39;0.1) 14 17 0 0 0.007413 0 0 PHF8 23133 broad.mit.edu 37 X 54020145 54020145 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:54020145C>T ENST00000338154.6 - 13 2019 c.1515G>A c.(1513-1515)gaG>gaA p.E505E PHF8_ENST00000322659.8_Silent_p.E505E|PHF8_ENST00000357988.5_Silent_p.E541E|PHF8_ENST00000338946.6_Intron NM_015107.2 NP_055922.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 541 brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 TGCCCTTTCGCTCTGCCTTCT 0.517000 10 49 0 0 0.006214 0 0 AP3D1 8943 broad.mit.edu 37 19 2115263 2115263 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:2115263G>A ENST00000355272.6 - 20 2510 c.2304C>T c.(2302-2304)atC>atT p.I768I AP3D1_ENST00000350812.6_Silent_p.I599I|AP3D1_ENST00000356926.4_Silent_p.I677I|AP3D1_ENST00000345016.5_Silent_p.I768I NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 768 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGCAGGGGCGATGTCCTCGT 0.597000 4 24 0 0 0.000248 0 0 DPP10 57628 broad.mit.edu 37 2 116538498 116538498 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:116538498C>T ENST00000410059.1 + 16 1890 c.1410C>T c.(1408-1410)ttC>ttT p.F470F DPP10_ENST00000409163.1_Silent_p.F420F|DPP10_ENST00000393147.2_Silent_p.F474F|DPP10_ENST00000310323.8_Silent_p.F463F NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 470 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 CATGTAATTTCATGAAAGAAC 0.308000 5 19 0 0 0.001168 0 0 FBN3 84467 broad.mit.edu 37 19 8146297 8146297 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:8146297G>A ENST00000600128.1 - 58 7695 c.7281C>T c.(7279-7281)ttC>ttT p.F2427F FBN3_ENST00000601739.1_Silent_p.F2427F|FBN3_ENST00000270509.2_Silent_p.F2427F Q75N90 FBN3_HUMAN fibrillin 3 2427 EGF-like 39; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 AGCTGCACAGGAAACTGCCCT 0.592000 18 32 0 0 0.007413 0 0 PPP1R1B 84152 broad.mit.edu 37 17 37791921 37791921 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:37791921G>A ENST00000254079.4 + 6 976 c.507G>A c.(505-507)ctG>ctA p.L169L PPP1R1B_ENST00000394267.2_Silent_p.L133L|PPP1R1B_ENST00000579000.1_Silent_p.L136L|PPP1R1B_ENST00000580825.1_Silent_p.L169L|PPP1R1B_ENST00000394265.1_Silent_p.L133L NM_032192.3 NP_115568.2 Q9UD71 PPR1B_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 1B 169 signal transduction cytosol protein kinase inhibitor activity|protein phosphatase inhibitor activity kidney(1)|large_intestine(1)|liver(1)|lung(2) 5 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CACCCCCTCTGGATGAGTCCG 0.592000 27 62 0 0 0.006320 0 0 IFI35 3430 broad.mit.edu 37 17 41166293 41166293 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:41166293G>A ENST00000415816.2 + 7 1061 c.838G>A c.(838-840)Gtc>Atc p.V280I IFI35_ENST00000438323.2_Missense_Mutation_p.V282I NM_005533.4 NP_005524.2 P80217 IN35_HUMAN interferon-induced protein 35 280 EVEALTVVPQGQQGLAVFTSESG -> GRGPDSRTPRTAGP SSLHL (in Ref. 1; no nucleotide entry). response to virus|type I interferon-mediated signaling pathway nucleus protein binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1) 8 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.157) GGGCCTAGCAGTCTTCACCTC 0.647000 6 14 0 0 0.001984 0 0 EYA4 2070 broad.mit.edu 37 6 133844294 133844294 + Missense_Mutation SNP A A C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr6:133844294A>C ENST00000367895.5 + 18 2181 c.1717A>C c.(1717-1719)Att>Ctt p.I573L RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000355286.6_Missense_Mutation_p.I550L|EYA4_ENST00000525849.1_Missense_Mutation_p.I550L|EYA4_ENST00000355167.3_Missense_Mutation_p.I573L|EYA4_ENST00000452339.2_Missense_Mutation_p.I519L|EYA4_ENST00000431403.2_Missense_Mutation_p.I573L|EYA4_ENST00000430974.2_Missense_Mutation_p.I525L|EYA4_ENST00000531901.1_Missense_Mutation_p.I579L NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 573 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) CATTGAGAATATTTACAGTGC 0.388000 8 13 0 0 0.004482 0 0 TSTD2 158427 broad.mit.edu 37 9 100388231 100388231 + Missense_Mutation SNP A A C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr9:100388231A>C ENST00000341170.4 - 3 596 c.214T>G c.(214-216)Ttt>Gtt p.F72V TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000375165.1_5'UTR|TSTD2_ENST00000354801.2_5'UTR NM_139246.4 NP_640339.4 Q5T7W7 TSTD2_HUMAN thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 72 large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 15 TTACATTCAAAACTCCTTTTT 0.373000 3 18 0 0 0.000248 0 0 NPLOC4 55666 broad.mit.edu 37 17 79573743 79573743 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:79573743G>A ENST00000374747.5 - 7 757 c.628C>T c.(628-630)Ccg>Tcg p.P210S NPLOC4_ENST00000539314.1_Missense_Mutation_p.P49S|NPLOC4_ENST00000331134.6_Missense_Mutation_p.P210S|NPLOC4_ENST00000574344.1_5'UTR Q8TAT6 NPL4_HUMAN nuclear protein localization 4 homolog (S. cerevisiae) 210 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) ATGGCGCTCGGCTGGCACTTA 0.532000 14 24 0 0 0.003163 0 0 ACPL2 92370 broad.mit.edu 37 3 141011772 141011772 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:141011772G>A ENST00000508812.1 + 5 3048 c.1141G>A c.(1141-1143)Ggc>Agc p.G381S ACPL2_ENST00000393010.2_Missense_Mutation_p.G390S|ACPL2_ENST00000393007.1_Missense_Mutation_p.G374S|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000504264.1_Missense_Mutation_p.G373S|ACPL2_ENST00000502783.1_Missense_Mutation_p.G352S|ACPL2_ENST00000286353.4_Missense_Mutation_p.G390S Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 390 extracellular region acid phosphatase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 CAGTGCCTTGGGCCTTTCAGA 0.532000 22 105 0 0 0.003954 0 0 SH2D4A 63898 broad.mit.edu 37 8 19218823 19218823 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr8:19218823C>T ENST00000265807.3 + 6 1115 c.704C>T c.(703-705)tCt>tTt p.S235F SH2D4A_ENST00000518040.1_Missense_Mutation_p.S190F|SH2D4A_ENST00000519207.1_Missense_Mutation_p.S235F NM_001174160.1|NM_022071.3 NP_001167631.1|NP_071354.2 Q9H788 SH24A_HUMAN SH2 domain containing 4A 235 cytoplasm|nucleus protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1) 16 Colorectal(111;0.0732) TGGCAGGCATCTCGTGAGTAC 0.413000 3 8 0 0 0.000248 0 0 OR2A12 346525 broad.mit.edu 37 7 143792752 143792752 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:143792752C>T ENST00000408949.2 + 1 612 c.552C>T c.(550-552)ttC>ttT p.F184F NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 184 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) TGTCCGTATTCAAATTGGCCT 0.493000 15 49 0 0 0.002450 0 0 AHNAK2 113146 broad.mit.edu 37 14 105409088 105409088 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr14:105409088G>A ENST00000333244.5 - 7 12819 c.12700C>T c.(12700-12702)Ccc>Tcc p.P4234S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4234 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCCACCTGGGGGCCCTTGAGG 0.652000 19 77 0 0 0.002299 0 0 USP26 83844 broad.mit.edu 37 X 132161510 132161510 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:132161510G>A ENST00000511190.1 - 6 1208 c.739C>T c.(739-741)Cct>Tct p.P247S USP26_ENST00000370832.1_Missense_Mutation_p.P247S|USP26_ENST00000406273.1_Missense_Mutation_p.P247S NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 247 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) TCTAGGTAAGGATTTCCAGTG 0.373000 5 20 0 0 0.000602 0 0 RP11-909M7.3 0 broad.mit.edu 37 14 101435314 101435314 + RNA SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr14:101435314G>A ENST00000554693.2 + 0 212 SNORD114-12_ENST00000365400.1_RNA ACCGGCGTATGAGTCTTGGAT 0.353000 4 10 0 0 0.000248 0 0 ATP8B3 148229 broad.mit.edu 37 19 1789468 1789468 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:1789468G>A ENST00000539485.1 - 23 3000 c.2767C>T c.(2767-2769)Cgc>Tgc p.R923C ATP8B3_ENST00000310127.6_Missense_Mutation_p.R913C|ATP8B3_ENST00000525591.1_Missense_Mutation_p.R876C O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 913 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCGTCACGCGGCAGCAGATG 0.662000 5 12 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179408933 179408933 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:179408933C>T ENST00000589042.1 - 345 96247 c.96023G>A c.(96022-96024)aGa>aAa p.R32008K TTN_ENST00000591111.1_Missense_Mutation_p.R30367K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R22943K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R29440K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23068K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R23135K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 30367 Ig-like 142. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R29440T(1)|p.R22943T(1)|p.R29438T(1)|p.R23068T(1)|p.R23135T(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATACCTATTCTTTCCACGGG 0.373000 7 18 0 0 0.001984 0 0 TTLL6 284076 broad.mit.edu 37 17 46863592 46863592 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:46863592C>T ENST00000393382.3 - 12 1836 c.1695G>A c.(1693-1695)aaG>aaA p.K565K TTLL6_ENST00000433608.2_Silent_p.K258K NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 517 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 CCCTCATGCCCTTCTTTCTCA 0.527000 54 267 0 0 0.003610 0 0 KIF24 347240 broad.mit.edu 37 9 34259683 34259683 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr9:34259683G>A ENST00000379166.2 - 10 1655 c.1536C>T c.(1534-1536)atC>atT p.I512I KIF24_ENST00000379174.3_Silent_p.I378I|KIF24_ENST00000402558.2_Silent_p.I512I|KIF24_ENST00000345050.2_Silent_p.I378I NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 512 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) TGGCATTGCCGATGAAAGAGT 0.488000 57 60 0 0 0.003610 0 0 SFSWAP 6433 broad.mit.edu 37 12 132209970 132209970 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr12:132209970C>T ENST00000261674.4 + 5 768 c.627C>T c.(625-627)caC>caT p.H209H SFSWAP_ENST00000541286.1_Silent_p.H209H NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 209 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 CTAAAATGCACGCCATCATCG 0.517000 9 42 0 0 0.000978 0 0 CUX2 23316 broad.mit.edu 37 12 111785456 111785456 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr12:111785456C>T ENST00000261726.6 + 22 3942 c.3788C>T c.(3787-3789)tCt>tTt p.S1263F NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1263 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 AGCCCTGACTCTGAGACTGAG 0.637000 20 24 0 0 0.001523 0 0 ACSBG2 81616 broad.mit.edu 37 19 6147545 6147545 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:6147545C>T ENST00000588304.1 + 3 452 c.6C>T c.(4-6)acC>acT p.T2T ACSBG2_ENST00000591403.1_Silent_p.T52T|ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000586696.1_Silent_p.T52T|ACSBG2_ENST00000252669.5_Silent_p.T52T Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 52 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCCCGATGACCATCCCTGAAT 0.488000 23 106 0 0 0.003330 0 0 TAMM41 132001 broad.mit.edu 37 3 11887979 11887979 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:11887979C>T ENST00000444133.2 - 1 274 c.132G>A c.(130-132)caG>caA p.Q44Q TAMM41_ENST00000455809.1_Silent_p.Q44Q|TAMM41_ENST00000273037.5_Silent_p.Q44Q Q96BW9 MMP37_HUMAN TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae) 44 protein import into mitochondrial matrix extrinsic to mitochondrial inner membrane GGCTCACCTTCTGGTCTGAAC 0.622000 9 33 0 0 0.004482 0 0 DNAH9 1770 broad.mit.edu 37 17 11797735 11797735 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:11797735C>T ENST00000262442.3 + 59 11396 c.11328C>T c.(11326-11328)ttC>ttT p.F3776F DNAH9_ENST00000396001.2_Silent_p.F88F|DNAH9_ENST00000454412.2_Silent_p.F3776F NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3776 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGTTGGATTTCCTGCTTCGAT 0.512000 13 52 0 0 0.002450 0 0 TRPC3 7222 broad.mit.edu 37 4 122835986 122835986 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr4:122835986G>A ENST00000264811.5 - 3 1489 c.1071C>T c.(1069-1071)gcC>gcT p.A357A TRPC3_ENST00000379645.3_Silent_p.A430A|TRPC3_ENST00000513531.1_Intron NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 345 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GAAGGCCCAGGGCCACGACCA 0.537000 8 10 0 0 0.003080 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240908 39240908 + Silent SNP T T C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:39240908T>C ENST00000391417.4 + 1 450 c.450T>C c.(448-450)tgT>tgC p.C150C NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.C150C(1) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 CCTTGTGCTGTGCCTCCTCTT 0.607000 3 10 0 0 0.004672 0 0 ITGA8 8516 broad.mit.edu 37 10 15639266 15639266 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr10:15639266C>T ENST00000378076.3 - 21 2504 c.2151G>A c.(2149-2151)atG>atA p.M717I ITGA8_ENST00000477064.1_5'UTR NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 717 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TTACATTTTCCATCTTGTACT 0.453000 7 24 0 0 0.004482 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993591 140993591 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:140993591C>T ENST00000285879.4 + 4 687 c.401C>T c.(400-402)tCc>tTc p.S134F MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 134 protein binding p.S134F(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CCTGCGAGTTCCTTCTTCTCC 0.502000 HNSCC(15;0.026) 32 51 0 0 0.002096 0 0 SPIN2A 54466 broad.mit.edu 37 X 57162290 57162290 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:57162290G>A ENST00000374908.1 - 1 1140 c.741C>T c.(739-741)ttC>ttT p.F247F SPIN2A_ENST00000374906.3_Silent_p.F247F Q99865 SPI2A_HUMAN spindlin family, member 2A 247 cell cycle|gamete generation breast(1)|kidney(1)|ovary(1) 3 CATAGATATGGAAATCATCAT 0.363000 12 38 0 0 0.004990 0 0 PCDHB17P 54661 broad.mit.edu 37 5 140536852 140536852 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr5:140536852G>A ENST00000539533.1 + 1 1276 c.1276G>A c.(1276-1278)Gac>Aac p.D426N TACTGTCACAGACTTGGGGAC 0.507000 5 38 0 0 0.001168 0 0 RECQL5 9400 broad.mit.edu 37 17 73658685 73658685 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:73658685G>A ENST00000420326.2 - 4 804 c.645C>T c.(643-645)atC>atT p.I215I RECQL5_ENST00000340830.5_Silent_p.I215I|RECQL5_ENST00000317905.5_Silent_p.I215I|RECQL5_ENST00000423245.2_Silent_p.I188I|RECQL5_ENST00000584999.1_Silent_p.I215I NM_001003715.3|NM_001003716.3 NP_001003715.1|NP_001003716.1 O94762 RECQ5_HUMAN RecQ protein-like 5 215 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) GAGTCTTGAAGATGGCAACTG 0.547000 Other identified genes with known or suspected DNA repair function 84 165 0 0 0.003610 0 0 YY1AP1 55249 broad.mit.edu 37 1 155631048 155631048 + Missense_Mutation SNP A A G TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:155631048A>G ENST00000405763.3 - 9 1470 c.1460T>C c.(1459-1461)gTt>gCt p.V487A YY1AP1_ENST00000295566.4_Intron|YY1AP1_ENST00000359205.5_Intron|YY1AP1_ENST00000404643.1_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000407221.1_Intron|YY1AP1_ENST00000368330.2_Intron|YY1AP1_ENST00000368340.5_Intron|YY1AP1_ENST00000361831.5_Intron|YY1AP1_ENST00000347088.5_Intron|YY1AP1_ENST00000311573.5_Intron|YY1AP1_ENST00000368339.5_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000355499.4_Intron|YY1AP1_ENST00000535662.1_Intron YY1 associated protein 1 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) TTCTCTCAGAACTTTCAGTGA 0.443000 18 31 0 0 0.003954 0 0 TDGF1 6997 broad.mit.edu 37 3 46620588 46620588 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:46620588G>A ENST00000296145.5 + 2 772 c.39G>A c.(37-39)gtG>gtA p.V13V TDGF1_ENST00000542931.1_5'UTR|LRRC2_ENST00000296144.3_Intron NM_003212.3 NP_003203.1 P13385 TDGF1_HUMAN teratocarcinoma-derived growth factor 1 13 activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation anchored to membrane|cell surface|extrinsic to plasma membrane growth factor activity cervix(2)|endometrium(1)|kidney(1)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) TTCCTAGTGTGATTTGGATCA 0.408000 35 53 0 0 0.002222 0 0 LRP5 4041 broad.mit.edu 37 11 68174156 68174156 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr11:68174156C>T ENST00000294304.7 + 9 2072 c.1966C>T c.(1966-1968)Cac>Tac p.H656Y NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 656 Beta-propeller 3. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AGCCGCCATCCACAGGATCTC 0.597000 8 15 0 0 0.003080 0 0 FAM117A 81558 broad.mit.edu 37 17 47793567 47793567 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:47793567G>A ENST00000240364.2 - 7 1100 c.1021C>T c.(1021-1023)Cca>Tca p.P341S FAM117A_ENST00000513602.1_Missense_Mutation_p.P69S|RP11-613C6.2_ENST00000512720.1_RNA NM_030802.3 NP_110429.1 Q9C073 F117A_HUMAN family with sequence similarity 117, member A 341 haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 17 CAGCCTTCTGGGGGCTCCCGT 0.557000 14 39 0 0 0.006122 0 0 SSH2 85464 broad.mit.edu 37 17 27994162 27994162 + Missense_Mutation SNP T T C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:27994162T>C ENST00000269033.3 - 9 959 c.808A>G c.(808-810)Att>Gtt p.I270V RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.I297V NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 270 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTGGATGTAATATTCTCCAAA 0.418000 11 18 0 0 0.001368 0 0 FZR1 51343 broad.mit.edu 37 19 3527704 3527704 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:3527704C>T ENST00000441788.2 + 7 782 c.546C>T c.(544-546)ccC>ccT p.P182P FZR1_ENST00000395095.3_Silent_p.P182P|FZR1_ENST00000313639.8_Intron NM_016263.3 NP_057347.2 Q9UM11 FZR_HUMAN fizzy/cell division cycle 20 related 1 (Drosophila) 182 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) TGGACGCGCCCGAGCTGCAGG 0.632000 8 21 0 0 0.003080 0 0 RAB34 83871 broad.mit.edu 37 17 27042098 27042098 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:27042098C>T ENST00000395245.3 - 8 1182 c.556G>A c.(556-558)Gtg>Atg p.V186M RAB34_ENST00000453384.3_Missense_Mutation_p.V244M|RAB34_ENST00000450529.1_Missense_Mutation_p.V178M|RAB34_ENST00000395242.2_Missense_Mutation_p.V187M|RAB34_ENST00000436730.3_Missense_Mutation_p.V186M|RAB34_ENST00000415040.2_Missense_Mutation_p.V164M|RAB34_ENST00000395243.3_Missense_Mutation_p.V178M|RAB34_ENST00000301043.6_Missense_Mutation_p.V186M|RAB34_ENST00000447716.1_Missense_Mutation_p.V243M NM_001256281.1|NM_031934.5 NP_001243210.1|NP_114140.4 Q9BZG1 RAB34_HUMAN RAB34, member RAS oncogene family 186 protein transport|small GTPase mediated signal transduction Golgi apparatus GTP binding endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2) 14 Lung NSC(42;0.00431) TCCTGGGCCACCTGGAGGGCG 0.602000 10 40 0 0 0.000978 0 0 KRT72 140807 broad.mit.edu 37 12 52981604 52981604 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr12:52981604G>A ENST00000293745.2 - 7 1206 c.1121C>T c.(1120-1122)gCt>gTt p.A374V KRT72_ENST00000398066.3_Missense_Mutation_p.A186V|KRT72_ENST00000354310.4_Missense_Mutation_p.A332V|KRT72_ENST00000537672.2_Missense_Mutation_p.A374V NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 374 Coil 2.|Rod. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) CCGCTGTTCAGCGTCGGCGAT 0.627000 5 15 0 0 0.001168 0 0 OR52J3 119679 broad.mit.edu 37 11 5068359 5068359 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr11:5068359C>T ENST00000380370.1 + 1 604 c.604C>T c.(604-606)Ctt>Ttt p.L202F NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L202I(1) NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) TATCTATGGGCTTTTTGTAGT 0.443000 11 17 0 0 0.008291 0 0 MARCH2 51257 broad.mit.edu 37 19 8491579 8491579 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:8491579C>T ENST00000602117.1 + 3 718 c.263C>T c.(262-264)gCc>gTc p.A88V MARCH2_ENST00000393944.1_Missense_Mutation_p.A88V|MARCH2_ENST00000381035.4_Missense_Mutation_p.A88V|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000215555.2_Missense_Mutation_p.A88V|MARCH2_ENST00000601283.1_Intron Q9P0N8 MARH2_HUMAN membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase 88 endocytosis cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1) 10 ACGCTGGGTGCCGTGCATAAG 0.597000 4 24 0 0 0.000248 0 0 NIPBL 25836 broad.mit.edu 37 5 36995774 36995774 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr5:36995774G>A ENST00000282516.8 + 11 3671 c.3172G>A c.(3172-3174)Gaa>Aaa p.E1058K NIPBL_ENST00000448238.2_Missense_Mutation_p.E1058K|NIPBL_ENST00000504430.1_3'UTR NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1058 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) ACTCCTGGCAGAAATTGAGTC 0.338000 7 15 0 0 0.006214 0 0 CACNA1G 8913 broad.mit.edu 37 17 48646648 48646648 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:48646648C>T ENST00000352832.5 + 3 849 c.477C>T c.(475-477)atC>atT p.I159I CACNA1G_ENST00000502264.1_Silent_p.I159I|CACNA1G_ENST00000416767.4_Silent_p.I159I|CACNA1G_ENST00000510366.1_Silent_p.I159I|CACNA1G_ENST00000358244.5_Silent_p.I159I|CACNA1G_ENST00000513689.2_Silent_p.I159I|CACNA1G_ENST00000505165.1_Silent_p.I159I|CACNA1G_ENST00000503485.1_Silent_p.I159I|CACNA1G_ENST00000429973.2_Silent_p.I159I|CACNA1G_ENST00000354983.4_Silent_p.I159I|CACNA1G_ENST00000359106.5_Silent_p.I159I|CACNA1G_ENST00000507510.2_Silent_p.I159I|CACNA1G_ENST00000515165.1_Silent_p.I159I|CACNA1G_ENST00000512389.1_Silent_p.I159I|CACNA1G_ENST00000507896.1_Silent_p.I159I|CACNA1G_ENST00000360761.4_Silent_p.I159I|CACNA1G_ENST00000514717.1_Silent_p.I159I|CACNA1G_ENST00000515411.1_Silent_p.I159I|CACNA1G_ENST00000507609.1_Silent_p.I159I|CACNA1G_ENST00000513964.1_Silent_p.I159I|CACNA1G_ENST00000507336.1_Silent_p.I159I|CACNA1G_ENST00000442258.2_Silent_p.I159I|CACNA1G_ENST00000510115.1_Silent_p.I159I|CACNA1G_ENST00000515765.1_Silent_p.I159I|CACNA1G_ENST00000514079.1_Silent_p.I159I|CACNA1G_ENST00000514181.1_Silent_p.I159I NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 159 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) ACTTTTTCATCGTCATCGCAG 0.582000 7 49 0 0 0.003080 0 0 BCAM 4059 broad.mit.edu 37 19 45316532 45316532 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:45316532G>A ENST00000391955.1 + 5 574 c.530G>A c.(529-531)gGg>gAg p.G177E BCAM_ENST00000270233.6_Missense_Mutation_p.G177E P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 177 Ig-like V-type 2. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) AGCCGGAACGGGAACCCGGCC 0.662000 46 135 0 0 0.003610 0 0 DNAAF3 352909 broad.mit.edu 37 19 55670558 55670558 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:55670558C>T ENST00000527223.2 - 12 1700 c.1699G>A c.(1699-1701)Ggg>Agg p.G567R DNAAF3_ENST00000587789.2_5'UTR|CTD-2587H24.4_ENST00000587871.1_Intron|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000524407.2_Missense_Mutation_p.G500R|DNAAF3_ENST00000455045.1_Missense_Mutation_p.G446R|DNAAF3_ENST00000391720.4_Missense_Mutation_p.G547R NM_001256714.1 NP_001243643.1 Q8N9W5 CS051_HUMAN dynein, axonemal, assembly factor 3 500 TGTGGGGTCCCACCCTGCAGA 0.657000 7 19 0 0 0.003080 0 0 IGHG3 3502 broad.mit.edu 37 14 106237643 106237643 + RNA SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr14:106237643G>A ENST00000390551.2 - 0 99 CACCGGTTCTGGGAAGTAGTC 0.667000 6 16 0 0 0.001168 0 0 P2RX5-TAX1BP3 100533970 broad.mit.edu 37 17 3583028 3583028 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:3583028C>T ENST00000550383.1 - 11 1303 c.1115G>A c.(1114-1116)gGg>gAg p.G372E P2RX5_ENST00000547178.1_Missense_Mutation_p.G371E|P2RX5_ENST00000345901.3_Missense_Mutation_p.G348E|P2RX5_ENST00000435558.1_Missense_Mutation_p.G372E|P2RX5_ENST00000552276.1_Missense_Mutation_p.G371E|P2RX5_ENST00000552050.1_Missense_Mutation_p.G312E|P2RX5_ENST00000551178.1_Missense_Mutation_p.G347E|P2RX5_ENST00000225328.5_Missense_Mutation_p.G372E CTCAGATAGCCCCAGCCCCGA 0.657000 5 26 0 0 0.001168 0 0 NDST3 9348 broad.mit.edu 37 4 119174728 119174728 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr4:119174728G>A ENST00000296499.5 + 13 2877 c.2474G>A c.(2473-2475)gGa>gAa p.G825E NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 825 Heparan sulfate N-sulfotransferase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 AAGAGCAAAGGAAGAAAATAC 0.318000 26 49 0 0 0.001786 0 0 SSUH2 51066 broad.mit.edu 37 3 8672581 8672581 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:8672581G>A ENST00000317371.4 - 13 1594 c.369C>T c.(367-369)tcC>tcT p.S123S SSUH2_ENST00000415132.1_Silent_p.S123S|SSUH2_ENST00000544814.1_Silent_p.S145S|SSUH2_ENST00000341795.3_Silent_p.S123S ssu-2 homolog (C. elegans) AGAGCCTGGGGGAGGCGCCTC 0.522000 16 31 0 0 0.003163 0 0 SLC5A6 8884 broad.mit.edu 37 2 27427784 27427784 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:27427784G>A ENST00000310574.3 - 8 1223 c.750C>T c.(748-750)ccC>ccT p.P250P SLC5A6_ENST00000408041.1_Silent_p.P250P NM_021095.2 NP_066918.2 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 250 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) GCCGCACAAAGGGGTCTGGAT 0.572000 6 33 0 0 0.003080 0 0 BCAT1 586 broad.mit.edu 37 12 25031483 25031483 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr12:25031483G>A ENST00000261192.7 - 5 1017 c.491C>T c.(490-492)cCt>cTt p.P164L BCAT1_ENST00000539282.1_Missense_Mutation_p.P176L|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539780.1_Missense_Mutation_p.P127L|BCAT1_ENST00000538118.1_Missense_Mutation_p.P163L|BCAT1_ENST00000342945.5_Missense_Mutation_p.P103L NM_001178091.1|NM_005504.6 NP_001171562.1|NP_005495.2 P54687 BCAT1_HUMAN branched chain amino-acid transaminase 1, cytosolic 164 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity breast(1)|large_intestine(1)|lung(3)|prostate(2) 7 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) AATGAATGTAGGACGAATATA 0.363000 3 16 0 0 0.000248 0 0 NISCH 11188 broad.mit.edu 37 3 52521747 52521747 + Missense_Mutation SNP C C T rs62256878 TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:52521747C>T ENST00000345716.4 + 16 2373 c.2239C>T c.(2239-2241)Cgg>Tgg p.R747W NISCH_ENST00000479054.1_Missense_Mutation_p.R747W NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 747 Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity). apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CCAGGAGTCTCGGGGCAGCAG 0.612000 12 35 0 0 0.001855 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140307492 140307492 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr5:140307492G>A ENST00000253807.2 + 1 1015 c.1015G>A c.(1015-1017)Gaa>Aaa p.E339K PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E339K|PCDHA4_ENST00000530339.1_Intron NM_018898.3 NP_061721.2 p.E339K(1) NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCATGCCCCCGAACTGGACTT 0.522000 16 82 0 0 0.004990 0 0 ATAD2 29028 broad.mit.edu 37 8 124358477 124358477 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr8:124358477C>T ENST00000287394.5 - 18 2488 c.2381G>A c.(2380-2382)aGa>aAa p.R794K ATAD2_ENST00000521903.1_Missense_Mutation_p.R112K NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 794 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TATCAATATTCTTGGTCGAAA 0.343000 7 26 0 0 0.001984 0 0 OR4A5 81318 broad.mit.edu 37 11 51412281 51412281 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr11:51412281C>T ENST00000319760.6 - 1 167 c.115G>A c.(115-117)Ggg>Agg p.G39R NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) AGCAGGTTCCCCACCACTGTC 0.433000 5 4 0 0 0.000602 0 0 SSUH2 51066 broad.mit.edu 37 3 8672582 8672582 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:8672582G>A ENST00000317371.4 - 13 1593 c.368C>T c.(367-369)tCc>tTc p.S123F SSUH2_ENST00000415132.1_Missense_Mutation_p.S123F|SSUH2_ENST00000544814.1_Missense_Mutation_p.S145F|SSUH2_ENST00000341795.3_Missense_Mutation_p.S123F ssu-2 homolog (C. elegans) GAGCCTGGGGGAGGCGCCTCT 0.527000 17 31 0 0 0.004007 0 0 UROC1 131669 broad.mit.edu 37 3 126211324 126211324 + Missense_Mutation SNP G G T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:126211324G>T ENST00000290868.2 - 16 1598 c.1545C>A c.(1543-1545)gaC>gaA p.D515E UROC1_ENST00000383579.3_Missense_Mutation_p.D575E NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 515 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) GGCCCTTCTGGTCTGAGTACA 0.602000 10 11 1.08611e-07 1.86527e-07 0.000978 1 0 C1orf65 164127 broad.mit.edu 37 1 223567284 223567284 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:223567284C>T ENST00000366875.3 + 1 570 c.467C>T c.(466-468)cCc>cTc p.P156L NM_152610.2 NP_689823.2 Q8N715 CA065_HUMAN chromosome 1 open reading frame 65 156 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) GCTGGCACTCCCCTGAGTGGC 0.677000 13 20 0 0 0.001368 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687812 27687812 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr10:27687812G>A ENST00000438700.3 - 4 1832 c.1715C>T c.(1714-1716)tCt>tTt p.S572F NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 572 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 ATCTGGGACAGAACCAAATGG 0.408000 3 12 0 0 0.004672 0 0 ACTL8 81569 broad.mit.edu 37 1 18149669 18149669 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:18149669G>A ENST00000375406.1 + 2 382 c.166G>A c.(166-168)Gac>Aac p.D56N NM_030812.2 NP_110439.2 Q9H568 ACTL8_HUMAN actin-like 8 56 cytoplasm|cytoskeleton p.D56Y(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) CCTGGGCATCGACATTTGCCA 0.572000 22 65 0 0 0.004656 0 0 CHURC1 91612 broad.mit.edu 37 14 65390804 65390804 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr14:65390804C>T ENST00000607599.1 + 2 270 c.216C>T c.(214-216)tcC>tcT p.S72S CHURC1_ENST00000359118.2_Silent_p.S45S|CHURC1_ENST00000552002.2_Silent_p.S45S|CHURC1-FNTB_ENST00000447296.2_Silent_p.S45S|CHURC1-FNTB_ENST00000542227.1_5'UTR|CHURC1_ENST00000549115.1_Silent_p.S72S|CHURC1_ENST00000548752.2_Silent_p.S72S NM_001204063.1|NM_145165.3 NP_001190992.1|NP_660148.3 churchill domain containing 1 breast(1)|pancreas(1) 2 all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976) CAAACAAATCCTTGAAAGAAG 0.393000 4 15 0 0 0.000602 0 0 DSCAM 1826 broad.mit.edu 37 21 41561001 41561001 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr21:41561001C>T ENST00000400454.1 - 12 2998 c.2521G>A c.(2521-2523)Gag>Aag p.E841K NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 841 Ig-like C2-type 9. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TCTCCCACCTCCTTGGTGGAC 0.473000 39 59 0 0 0.003610 0 0 GPR171 29909 broad.mit.edu 37 3 150916784 150916784 + Missense_Mutation SNP A A C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:150916784A>C ENST00000309180.5 - 3 620 c.390T>G c.(388-390)ttT>ttG p.F130L MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron NM_013308.3 NP_037440.3 O14626 GP171_HUMAN G protein-coupled receptor 171 130 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 15 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCATTTTGGCAAATCCGGGTT 0.393000 10 17 0 0 0.008291 0 0 MYH15 22989 broad.mit.edu 37 3 108219036 108219036 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:108219036C>T ENST00000273353.3 - 5 541 c.485G>A c.(484-486)gGg>gAg p.G162E NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 162 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TCGCCTCTTCCCTTTGTAGGC 0.473000 7 12 0 0 0.006214 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480878 140480878 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr5:140480878G>A ENST00000231130.2 + 1 645 c.645G>A c.(643-645)ctG>ctA p.L215L AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 215 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCACCGCGCTGGACGGCGGCT 0.567000 10 24 0 0 0.001368 0 0 SV2A 9900 broad.mit.edu 37 1 149877521 149877521 + Silent SNP G G A rs138258149 TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:149877521G>A ENST00000369146.3 - 12 2446 c.1956C>T c.(1954-1956)atC>atT p.I652I SV2A_ENST00000369145.1_Silent_p.I652I NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 652 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.I652I(3) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) AGAGCAGAGCGATCATGGCCG 0.542000 35 85 0 0 0.003271 0 0 IL27RA 9466 broad.mit.edu 37 19 14142700 14142700 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:14142700G>A ENST00000263379.2 + 1 141 c.16G>A c.(16-18)Ggc>Agc p.G6S NM_004843.3 NP_004834.1 Q6UWB1 I27RA_HUMAN interleukin 27 receptor, alpha 6 cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 26 GGGAGGCAGGGGCGCCCCTTT 0.721000 5 9 0 0 0.000602 0 0 AFF3 3899 broad.mit.edu 37 2 100209873 100209873 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:100209873C>T ENST00000317233.4 - 14 2485 c.2250G>A c.(2248-2250)cgG>cgA p.R750R AFF3_ENST00000409236.1_Silent_p.R750R|AFF3_ENST00000356421.2_Silent_p.R775R|AFF3_ENST00000409579.1_Silent_p.R775R NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 750 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 GAAGTTCGTTCCGGCCAAAGG 0.582000 13 41 0 0 0.001855 0 0 SLITRK3 22865 broad.mit.edu 37 3 164905896 164905896 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:164905896G>A ENST00000475390.1 - 2 3166 c.2723C>T c.(2722-2724)cCc>cTc p.P908L SLITRK3_ENST00000241274.3_Missense_Mutation_p.P908L O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 908 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CTTTAATTTGGGCACTGTTCC 0.547000 HNSCC(40;0.11) 23 24 0 0 0.002299 0 0 RAG1 5896 broad.mit.edu 37 11 36595117 36595117 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr11:36595117C>T ENST00000299440.5 + 2 375 c.263C>T c.(262-264)tCa>tTa p.S88L NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 88 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) CCTAAGTTTTCAAAGAAATTT 0.488000 Familial Hemophagocytic Lymphohistiocytosis 21 24 0 0 0.001523 0 0 ANO2 57101 broad.mit.edu 37 12 5708726 5708726 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr12:5708726C>T ENST00000356134.5 - 22 2231 c.2160G>A c.(2158-2160)tcG>tcA p.S720S ANO2_ENST00000327087.8_Silent_p.S719S|ANO2_ENST00000546188.1_Silent_p.S720S NM_001278596.1|NM_001278597.1 NP_001265525.1|NP_001265526.1 Q9NQ90 ANO2_HUMAN anoctamin 2 724 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 CTGGATGTTTCGAATGGGCAG 0.453000 32 40 0 0 0.002445 0 0 SNTG2 54221 broad.mit.edu 37 2 1133330 1133330 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:1133330C>T ENST00000308624.5 + 5 477 c.348C>T c.(346-348)ttC>ttT p.F116F SNTG2_ENST00000407292.1_Intron NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 116 PDZ. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding p.F116F(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) GGATGTTGTTCGTAGGAGATG 0.378000 13 13 0 0 0.003163 0 0 FZR1 51343 broad.mit.edu 37 19 3527703 3527703 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:3527703C>T ENST00000441788.2 + 7 781 c.545C>T c.(544-546)cCc>cTc p.P182L FZR1_ENST00000395095.3_Missense_Mutation_p.P182L|FZR1_ENST00000313639.8_Intron NM_016263.3 NP_057347.2 Q9UM11 FZR_HUMAN fizzy/cell division cycle 20 related 1 (Drosophila) 182 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) CTGGACGCGCCCGAGCTGCAG 0.637000 9 21 0 0 0.004482 0 0 GCKR 2646 broad.mit.edu 37 2 27729363 27729363 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:27729363C>T ENST00000264717.2 + 11 948 c.885C>T c.(883-885)atC>atT p.I295I GCKR_ENST00000424318.2_Silent_p.I105I NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 295 carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) TCCTGGAAATCTTGCGGACAT 0.552000 20 20 0 0 0.002780 0 0 OR2A12 346525 broad.mit.edu 37 7 143793023 143793023 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:143793023C>T ENST00000408949.2 + 1 883 c.823C>T c.(823-825)Ctg>Ttg p.L275L NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) GATCCTTTCCCTGTTTTACAG 0.517000 27 81 0 0 0.002096 0 0 PPP1R36 145376 broad.mit.edu 37 14 65041199 65041199 + Missense_Mutation SNP A A G TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr14:65041199A>G ENST00000298705.1 + 8 656 c.560A>G c.(559-561)gAa>gGa p.E187G RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA NM_172365.1 NP_758953.1 Q96LQ0 CN050_HUMAN protein phosphatase 1, regulatory subunit 36 187 AAAGAAATGGAATTGGTTTTA 0.423000 10 34 0 0 0.000978 0 0 WDR96 80217 broad.mit.edu 37 10 105939630 105939630 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr10:105939630C>T ENST00000357060.3 - 18 2465 c.2350G>A c.(2350-2352)Gaa>Aaa p.E784K WDR96_ENST00000278064.2_Missense_Mutation_p.E715K|WDR96_ENST00000428666.1_Missense_Mutation_p.E785K NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 784 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CAAGGAATTTCCTTCTTAACA 0.358000 10 55 0 0 0.000978 0 0 ZNF608 57507 broad.mit.edu 37 5 123977034 123977034 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr5:123977034G>A ENST00000306315.5 - 7 4796 c.4361C>T c.(4360-4362)cCc>cTc p.P1454L ZNF608_ENST00000513985.1_5'UTR|ZNF608_ENST00000504926.1_Missense_Mutation_p.P1027L NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1454 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) CTGGCCGAAGGGGGAGTGGCG 0.572000 13 54 0 0 0.001368 0 0 DIS3L 115752 broad.mit.edu 37 15 66624337 66624337 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr15:66624337G>A ENST00000319194.5 + 15 2672 c.2411G>A c.(2410-2412)gGt>gAt p.G804D DIS3L_ENST00000319212.4_Missense_Mutation_p.G887D NM_133375.3 NP_588616.1 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 887 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AGAACAAATGGTGTGCTTCTA 0.363000 16 78 0 0 0.001523 0 0 OR13C8 138802 broad.mit.edu 37 9 107332290 107332290 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr9:107332290C>T ENST00000335040.1 + 1 842 c.842C>T c.(841-843)tCc>tTc p.S281F NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 GCCCTCATCTCCCTTTTCTAT 0.413000 17 17 0 0 0.006122 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44266166 44266166 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr18:44266166C>T ENST00000315087.7 - 5 1200 c.540G>A c.(538-540)agG>agA p.R180R ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Silent_p.R149R|ST8SIA5_ENST00000538168.1_Silent_p.R216R NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 180 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 TGTTGATCTCCCTCCCGCAGC 0.592000 7 33 0 0 0.000978 0 0 ZNF32 7580 broad.mit.edu 37 10 44139841 44139841 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr10:44139841G>A ENST00000395797.1 - 3 667 c.479C>T c.(478-480)cCc>cTc p.P160L ZNF32_ENST00000374433.2_Missense_Mutation_p.P160L|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA NM_001005368.1 NP_001005368.1 P17041 ZNF32_HUMAN zinc finger protein 32 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 14 all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157) Lung(62;0.179) ACACTCGTAGGGTTTCTGTCC 0.498000 9 32 0 0 0.006214 0 0 EXTL3 2137 broad.mit.edu 37 8 28575288 28575288 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr8:28575288G>A ENST00000220562.4 + 3 2614 c.1712G>A c.(1711-1713)gGg>gAg p.G571E EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.G187E NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 571 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) GCTGACAACGGGGACCTGGAC 0.627000 16 26 0 0 0.004990 0 0 TELO2 9894 broad.mit.edu 37 16 1544321 1544321 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr16:1544321G>A ENST00000262319.6 + 2 318 c.39G>A c.(37-39)cgG>cgA p.R13R NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 13 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) TCGCCGTCCGGGAAGCCATTC 0.622000 OREG0023547 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 34 0 0 0.003163 0 0 OR6C1 390321 broad.mit.edu 37 12 55715172 55715172 + Missense_Mutation SNP A A T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr12:55715172A>T ENST00000379668.2 + 1 827 c.789A>T c.(787-789)aaA>aaT p.K263N NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K263K(1) endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 CCTCAGCAAAAGATAGAGTGT 0.443000 14 13 0 0 0.001855 0 0 TENM4 26011 broad.mit.edu 37 11 78440605 78440605 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr11:78440605G>A ENST00000278550.7 - 22 3684 c.3222C>T c.(3220-3222)gtC>gtT p.V1074V NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TGATCCTCAGGACAGATTTGT 0.577000 17 24 0 0 0.006122 0 0 ZZZ3 26009 broad.mit.edu 37 1 78097898 78097898 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:78097898G>A ENST00000370801.3 - 5 1617 c.1142C>T c.(1141-1143)tCa>tTa p.S381L ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR NM_015534.4 NP_056349.1 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 381 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2) 39 CCTTCGTGGTGAGGTTCTCAG 0.438000 10 15 0 0 0.001368 0 0 LRRC6 23639 broad.mit.edu 37 8 133584655 133584655 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr8:133584655C>T ENST00000519595.1 - 12 1398 c.1300G>A c.(1300-1302)Gag>Aag p.E434K LRRC6_ENST00000518642.1_3'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.E434K Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 434 cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TGTTTTTTCTCTTGAACTATG 0.423000 11 60 0 0 0.008291 0 0 SIGMAR1 10280 broad.mit.edu 37 9 34637410 34637410 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr9:34637410G>A ENST00000277010.4 - 2 232 c.159C>T c.(157-159)gaC>gaT p.D53D SIGMAR1_ENST00000378892.1_5'UTR|SIGMAR1_ENST00000477726.1_Silent_p.D53D|SIGMAR1_ENST00000461426.1_5'UTR NM_005866.2 NP_005857.1 Q99720 SGMR1_HUMAN sigma non-opioid intracellular receptor 1 53 ergosterol biosynthetic process|lipid transport cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane C-8 sterol isomerase activity|drug binding large_intestine(1)|lung(1) 2 Dextromethorphan(DB00514) CCAGCTCGTGGTCCAGCCCTG 0.706000 11 9 0 0 0.000978 0 0 CCDC108 255101 broad.mit.edu 37 2 219871204 219871204 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:219871204G>A ENST00000341552.5 - 30 4785 c.4702C>T c.(4702-4704)Cct>Tct p.P1568S CCDC108_ENST00000453220.1_Missense_Mutation_p.P1568S|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1568S|AC097468.4_ENST00000441450.1_RNA NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1568 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTCCTCGCAGGTTCACAGGCT 0.572000 40 79 0 0 0.003610 0 0 DSC3 1825 broad.mit.edu 37 18 28581592 28581592 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr18:28581592C>T ENST00000434452.1 - 14 2381 c.2227G>A c.(2227-2229)Gat>Aat p.D743N DSC3_ENST00000360428.4_Missense_Mutation_p.D743N NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 743 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) ACCACTCTATCGTCTCCAGGT 0.294000 9 21 0 0 0.004482 0 0 ZAN 7455 broad.mit.edu 37 7 100386926 100386926 + RNA SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:100386926C>T ENST00000542585.1 + 0 7459 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACCTGGTCACCGACTTTGAGC 0.542000 17 47 0 0 0.006122 0 0 R3HDM4 91300 broad.mit.edu 37 19 899628 899628 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:899628G>A ENST00000361574.5 - 6 693 c.620C>T c.(619-621)gCc>gTc p.A207V R3HDM4_ENST00000587975.1_Missense_Mutation_p.A186V NM_138774.3 NP_620129.2 Q96D70 CS022_HUMAN R3H domain containing 4 207 R3H. nucleus nucleic acid binding TGTGTACACGGCCTGGGGGGA 0.692000 7 8 0 0 0.004482 0 0 TRPC7 57113 broad.mit.edu 37 5 135583207 135583207 + Missense_Mutation SNP T T C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr5:135583207T>C ENST00000513104.1 - 7 2078 c.1796A>G c.(1795-1797)aAc>aGc p.N599S TRPC7_ENST00000355180.3_Missense_Mutation_p.N538S|TRPC7_ENST00000426057.2_Missense_Mutation_p.N483S NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 599 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGAGTACAGGTTGAACATCCC 0.483000 7 31 0 0 0.001984 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11862319 11862319 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr16:11862319G>A ENST00000396516.2 - 11 1409 c.1212C>T c.(1210-1212)ttC>ttT p.F404F ZC3H7A_ENST00000355758.4_Silent_p.F404F Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 404 nucleus nucleic acid binding|zinc ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 AAATTCCCAGGAAATTCTCTG 0.368000 15 40 0 0 0.003163 0 0 SAFB 6294 broad.mit.edu 37 19 5667120 5667120 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:5667120G>A ENST00000292123.5 + 18 2505 c.2398G>A c.(2398-2400)Ggc>Agc p.G800S SAFB_ENST00000592224.1_Missense_Mutation_p.G799S|SAFB_ENST00000454510.1_Missense_Mutation_p.G731S|SAFB_ENST00000588852.1_Missense_Mutation_p.G800S|SAFB_ENST00000433404.1_Missense_Mutation_p.G630S|SAFB_ENST00000538656.1_Missense_Mutation_p.G642S NM_001201338.1|NM_001201339.1|NM_002967.3 NP_001188267.1|NP_001188268.1|NP_002958.2 Q15424 SAFB1_HUMAN scaffold attachment factor B 800 Arg-rich.|Gly-rich.|Interaction with SAFB2. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) TGGCTGGGGGGGCTATGGCTC 0.652000 9 27 0 0 0.004482 0 0 COASY 80347 broad.mit.edu 37 17 40714460 40714460 + Nonsense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:40714460C>T ENST00000590958.1 + 2 156 c.31C>T c.(31-33)Cga>Tga p.R11* COASY_ENST00000421097.2_Intron|COASY_ENST00000420359.1_5'UTR|COASY_ENST00000393818.2_5'UTR|COASY_ENST00000449624.1_Intron Q13057 COASY_HUMAN CoA synthase 0 coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 21 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) AGCACAGCCCCGAGGCGCCGT 0.642000 15 45 0 0 0.006122 0 0 EDEM2 55741 broad.mit.edu 37 20 33711741 33711741 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr20:33711741G>A ENST00000540582.1 - 13 1664 c.943C>T c.(943-945)Cct>Tct p.P315S EDEM2_ENST00000542871.1_Missense_Mutation_p.P80S|EDEM2_ENST00000541621.1_Missense_Mutation_p.P135S|EDEM2_ENST00000374491.2_Missense_Mutation_p.P319S|EDEM2_ENST00000374492.3_Missense_Mutation_p.P356S Q9BV94 EDEM2_HUMAN ER degradation enhancer, mannosidase alpha-like 2 356 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 22 BRCA - Breast invasive adenocarcinoma(18;0.00936) TATCCCTGAGGAATGTTGTAG 0.527000 18 34 0 0 0.002780 0 0 HHIPL2 79802 broad.mit.edu 37 1 222716939 222716939 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:222716939C>T ENST00000343410.6 - 2 972 c.914G>A c.(913-915)cGa>cAa p.R305Q NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 305 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) CTCACTAATTCGGATCTTTTC 0.453000 248 497 0 0 0.003610 0 0 PC 5091 broad.mit.edu 37 11 66633742 66633742 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr11:66633742G>A ENST00000393960.1 - 11 1382 c.1101C>T c.(1099-1101)atC>atT p.I367I PC_ENST00000393955.2_Silent_p.I367I|PC_ENST00000524491.1_Silent_p.I327I|PC_ENST00000393958.2_Silent_p.I367I|PC_ENST00000355677.3_Silent_p.I367I NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 367 Biotin carboxylation. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CGTTGATGCGGATGTTCTCCT 0.682000 18 18 0 0 0.002299 0 0 XKR3 150165 broad.mit.edu 37 22 17288712 17288712 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr22:17288712G>A ENST00000331428.5 - 2 354 c.252C>T c.(250-252)atC>atT p.I84I NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 84 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AAAACATCAGGATAATTTGAT 0.333000 12 17 0 0 0.001368 0 0 PSPC1 55269 broad.mit.edu 37 13 20279916 20279916 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr13:20279916C>T ENST00000338910.4 - 8 1431 c.1272G>A c.(1270-1272)atG>atA p.M424I NM_001042414.2 NP_001035879.1 Q8WXF1 PSPC1_HUMAN paraspeckle component 1 424 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) TGTTCATATTCATACCCATCA 0.483000 13 79 0 0 0.003163 0 0 NDUFS7 374291 broad.mit.edu 37 19 1391044 1391044 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:1391044C>T ENST00000313408.7 + 5 426 c.403C>T c.(403-405)Cgc>Tgc p.R135C NDUFS7_ENST00000233627.9_Missense_Mutation_p.R135C|NDUFS7_ENST00000546283.1_Missense_Mutation_p.R135C|NDUFS7_ENST00000414651.2_Missense_Mutation_p.R165C|NDUFS7_ENST00000539480.1_Missense_Mutation_p.R135C|NDUFS7_ENST00000540530.1_3'UTR O75251 NDUS7_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) 135 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding ovary(1) 1 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) NADH(DB00157) CCCAGCGCTTCGCAAGGTAGG 0.692000 5 18 0 0 0.000602 0 0 SH3RF2 153769 broad.mit.edu 37 5 145317664 145317664 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr5:145317664C>T ENST00000511217.1 + 1 225 c.173C>T c.(172-174)tCc>tTc p.S58F SH3RF2_ENST00000359120.4_Missense_Mutation_p.S58F Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 58 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTGTGTTTTCCAACATTGAG 0.622000 5 27 0 0 0.001168 0 0 C14orf166B 145497 broad.mit.edu 37 14 77319733 77319733 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr14:77319733G>A ENST00000393774.3 + 9 1112 c.988G>A c.(988-990)Gaa>Aaa p.E330K NM_194287.2 NP_919263.2 Q0VAA2 CN16B_HUMAN chromosome 14 open reading frame 166B 330 breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) GGAATCCAATGAAAGCCTCAG 0.507000 6 17 0 0 0.001168 0 0 INSL6 11172 broad.mit.edu 37 9 5185341 5185341 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr9:5185341G>A ENST00000381641.3 - 1 327 c.262C>T c.(262-264)Ccg>Tcg p.P88S NM_007179.2 NP_009110.2 Q9Y581 INSL6_HUMAN insulin-like 6 88 extracellular region hormone activity breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2) 15 all_hematologic(13;0.137) Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145) CCCCGGGCCGGGGAAGCGGTT 0.522000 27 89 0 0 0.002836 0 0 ACSL6 23305 broad.mit.edu 37 5 131329801 131329801 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr5:131329801G>A ENST00000379264.2 - 2 301 c.193C>T c.(193-195)Ctt>Ttt p.L65F ACSL6_ENST00000543479.1_Missense_Mutation_p.L40F|ACSL6_ENST00000431707.1_Intron|ACSL6_ENST00000357096.1_Intron|ACSL6_ENST00000379240.1_Missense_Mutation_p.L40F|ACSL6_ENST00000296869.4_Missense_Mutation_p.L65F|ACSL6_ENST00000379272.2_Missense_Mutation_p.L40F|ACSL6_ENST00000379244.1_Missense_Mutation_p.L40F|ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000379249.3_Missense_Mutation_p.L40F|ACSL6_ENST00000379255.1_Intron|ACSL6_ENST00000379246.1_Missense_Mutation_p.L51F|ACSL6_ENST00000544770.1_5'UTR NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 40 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAGTAGGCAAGGATGGCAGCC 0.587000 9 43 0 0 0.008291 0 0 NPY5R 4889 broad.mit.edu 37 4 164272599 164272599 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr4:164272599G>A ENST00000515560.1 + 4 2696 c.1174G>A c.(1174-1176)Gat>Aat p.D392N NPY5R_ENST00000338566.3_Missense_Mutation_p.D392N|NPY5R_ENST00000506953.1_Missense_Mutation_p.D392N Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 392 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) TGTGGTAACTGATTTTAATGA 0.338000 23 36 0 0 0.002780 0 0 DNAH7 56171 broad.mit.edu 37 2 196720582 196720582 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:196720582C>T ENST00000312428.6 - 45 8648 c.8548G>A c.(8548-8550)Gac>Aac p.D2850N NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2850 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TCAAGTGTGTCTTGAAGCCTG 0.433000 43 81 0 0 0.002222 0 0 MYOCD 93649 broad.mit.edu 37 17 12626254 12626254 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:12626254G>A ENST00000425538.1 + 5 544 c.344G>A c.(343-345)cGa>cAa p.R115Q MYOCD_ENST00000343344.4_Missense_Mutation_p.R115Q|MYOCD_ENST00000395988.1_Missense_Mutation_p.R19Q NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 115 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) ATTGCTCTACGACCAGGGCCA 0.468000 22 102 0 0 0.002299 0 0 MYOM2 9172 broad.mit.edu 37 8 2054304 2054304 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr8:2054304C>T ENST00000262113.4 + 23 3056 c.2915C>T c.(2914-2916)cCg>cTg p.P972L MYOM2_ENST00000523438.1_Missense_Mutation_p.P397L NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 972 Ig-like C2-type 3. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TTAAAGAATCCGGATAAGGAG 0.408000 6 33 0 0 0.001168 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25255331 25255331 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr16:25255331G>A ENST00000328086.7 - 6 2559 c.1756C>T c.(1756-1758)Cgg>Tgg p.R586W NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 586 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) GCAGATGCCCGAGAGTTAATC 0.532000 13 30 0 0 0.001855 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884185 228884185 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:228884185G>A ENST00000392056.3 - 7 1431 c.1385C>T c.(1384-1386)gCc>gTc p.A462V SPHKAP_ENST00000344657.5_Missense_Mutation_p.A462V NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 462 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TGGCTGTGGGGCAGCATCACT 0.522000 7 45 0 0 0.001984 0 0 NTSR2 23620 broad.mit.edu 37 2 11802339 11802339 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:11802339G>A ENST00000306928.5 - 2 686 c.652C>T c.(652-654)Ccc>Tcc p.P218S NM_012344.3 NP_036476.1 O95665 NTR2_HUMAN neurotensin receptor 2 218 sensory perception integral to plasma membrane breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) AGTGCCAAGGGGAGCACGAAG 0.647000 43 87 0 0 0.002852 0 0 SNHG14 104472715 broad.mit.edu 37 15 25442604 25442604 + RNA SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr15:25442604C>T ENST00000424208.1 + 0 1580 SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA NR_003305.1 TGCTTAGCCCCTGGTAATCTG 0.607000 8 32 0 0 0.003080 0 0 IL36A 27179 broad.mit.edu 37 2 113765561 113765561 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:113765561C>T ENST00000259211.6 + 4 828 c.417C>T c.(415-417)atC>atT p.I139I NM_014440.1 NP_055255.1 Q9UHA7 IL36A_HUMAN interleukin 36, alpha 139 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2) 9 GTCCTCTCATCCTTACCCAAG 0.507000 17 24 0 0 0.008871 0 0 CCDC24 149473 broad.mit.edu 37 1 44461725 44461725 + Nonsense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:44461725C>T ENST00000372318.3 + 9 988 c.817C>T c.(817-819)Cga>Tga p.R273* SLC6A9_ENST00000372307.3_Intron|CCDC24_ENST00000486064.1_3'UTR|SLC6A9_ENST00000372306.3_Intron NM_152499.1 NP_689712.1 Q8N4L8 CCD24_HUMAN coiled-coil domain containing 24 273 endometrium(3)|large_intestine(2)|lung(3)|stomach(1) 9 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CCTTCGACCTCGAGGCCAGTC 0.682000 19 29 0 0 0.008871 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134458021 134458021 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr9:134458021C>T ENST00000372195.1 - 22 3219 c.2976G>A c.(2974-2976)tcG>tcA p.S992S RAPGEF1_ENST00000372190.3_Silent_p.S993S|RAPGEF1_ENST00000372189.3_Silent_p.S975S Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 975 Ras-GEF. activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) GTTCCACCTCCGAGAGGGCGG 0.662000 19 59 0 0 0.003330 0 0 DKK2 27123 broad.mit.edu 37 4 107845214 107845214 + Missense_Mutation SNP T T C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr4:107845214T>C ENST00000285311.3 - 4 1382 c.677A>G c.(676-678)gAa>gGa p.E226G DKK2_ENST00000513208.1_Missense_Mutation_p.E126G|DKK2_ENST00000510463.1_Missense_Mutation_p.E180G NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 226 DKK-type Cys-2. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) CTGGAAAATTTCCAGCCCATG 0.488000 8 18 0 0 0.006214 0 0 SCN1A 6323 broad.mit.edu 37 2 166901553 166901553 + Splice_Site SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:166901553C>T ENST00000423058.2 - 10 1679 c.1662_splice c.e10+1 p.Q554_splice SCN1A_ENST00000303395.4_Splice_Site_p.Q554_splice|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Splice_Site_p.Q554_splice|SCN1A_ENST00000375405.3_Splice_Site_p.Q554_splice|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 554 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AGTGCCATACCTGGTGTGGGG 0.418000 3 11 0 0 0.004672 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455038 187455038 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr4:187455038G>A ENST00000307161.5 - 2 1059 c.858C>T c.(856-858)ttC>ttT p.F286F RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 286 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) GGCAGCTGTTGAAATACGCCA 0.507000 17 52 0 0 0.007413 0 0 HSPB2 3316 broad.mit.edu 37 11 111784511 111784511 + Silent SNP T T A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr11:111784511T>A ENST00000304298.3 + 2 1029 c.441T>A c.(439-441)ccT>ccA p.P147P HSPB2_ENST00000537382.1_Silent_p.P147P|CRYAB_ENST00000533475.1_5'UTR|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000527950.1_Intron NM_001541.3 NP_001532.1 Q16082 HSPB2_HUMAN heat shock 27kDa protein 2 147 response to heat|response to unfolded protein cytosol|nucleus enzyme activator activity|protein binding large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051) TGGAAGCACCTCGGGGTGGCC 0.592000 18 15 0 0 0.006122 0 0 UPP2 151531 broad.mit.edu 37 2 158974375 158974375 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:158974375G>A ENST00000605860.1 + 7 596 c.550G>A c.(550-552)Gaa>Aaa p.E184K UPP2_ENST00000409859.4_Missense_Mutation_p.E184K|UPP2_ENST00000005756.4_Missense_Mutation_p.E127K|UPP2_ENST00000460456.1_Intron O95045 UPP2_HUMAN uridine phosphorylase 2 127 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 TATGCTTCATGAACTCATCAA 0.423000 16 21 0 0 0.004990 0 0 MYH8 4626 broad.mit.edu 37 17 10300150 10300150 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:10300150G>A ENST00000403437.2 - 31 4426 c.4332C>T c.(4330-4332)gcC>gcT p.A1444A CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1444 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TCTTATCAAGGGCTGCACAGG 0.463000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 17 34 0 0 0.006122 0 0 GDF10 2662 broad.mit.edu 37 10 48428967 48428967 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr10:48428967C>T ENST00000224605.2 - 2 1184 c.919G>A c.(919-921)Gat>Aat p.D307N NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 307 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 GGCCTCTCATCCAGCCCCGGC 0.746000 3 9 0 0 0.004672 0 0 CNGB3 54714 broad.mit.edu 37 8 87679189 87679189 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr8:87679189C>T ENST00000320005.5 - 6 863 c.816G>A c.(814-816)caG>caA p.Q272Q NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 272 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 GGAGTCTGGGCTGGATAAATA 0.418000 7 19 0 0 0.008291 0 0 HYDIN 54768 broad.mit.edu 37 16 70954932 70954932 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr16:70954932G>A ENST00000393567.2 - 46 7497 c.7347C>T c.(7345-7347)ccC>ccT p.P2449P NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2449 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GTTGCTTGTCGGGGTCCTTTG 0.507000 10 18 0 0 0.007413 0 0 OLFML2B 25903 broad.mit.edu 37 1 161954616 161954616 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:161954616C>T ENST00000294794.3 - 7 2052 c.1629G>A c.(1627-1629)cgG>cgA p.R543R OLFML2B_ENST00000367938.1_Silent_p.R26R|OLFML2B_ENST00000367940.2_Silent_p.R544R NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 543 Olfactomedin-like. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) TCTCCAGGTTCCGGAACTCTA 0.517000 22 138 0 0 0.003330 0 0 PANK4 55229 broad.mit.edu 37 1 2452661 2452661 + Missense_Mutation SNP T T G TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:2452661T>G ENST00000378466.3 - 3 313 c.301A>C c.(301-303)Atc>Ctc p.I101L PANK4_ENST00000435556.3_Missense_Mutation_p.I101L NM_018216.1 NP_060686.1 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 101 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 23 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) CAGGCTTCGATGTAGGTATTC 0.498000 33 64 0 0 0.002096 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011020 105011020 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:105011020C>T ENST00000372582.1 + 11 2183 c.1427C>T c.(1426-1428)cCa>cTa p.P476L IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.P81L|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.P476L NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 476 TIR. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GTGCTAACTCCAGACTATATT 0.378000 11 18 0 0 0.000978 0 0 LRRK2 120892 broad.mit.edu 37 12 40643669 40643669 + Missense_Mutation SNP T T G TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr12:40643669T>G ENST00000298910.7 + 8 938 c.880T>G c.(880-882)Ttt>Gtt p.F294V LRRK2_ENST00000343742.2_Missense_Mutation_p.F294V NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 294 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) AGTCCATGAGTTTGTGGTGAA 0.393000 5 4 0 0 0.000602 0 0 NT5DC2 64943 broad.mit.edu 37 3 52561704 52561704 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:52561704G>A ENST00000307076.4 - 9 1255 c.855C>T c.(853-855)ccC>ccT p.P285P NT5DC2_ENST00000459839.1_Silent_p.P297P|NT5DC2_ENST00000307092.4_Silent_p.P226P|NT5DC2_ENST00000422318.2_Silent_p.P322P NM_022908.2 NP_075059.1 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 285 hydrolase activity|metal ion binding endometrium(1)|lung(3)|prostate(1)|stomach(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) GGCGCCAATCGGGACCCACCA 0.627000 6 24 0 0 0.001984 0 0 TRDV1 28518 broad.mit.edu 37 14 22564822 22564822 + RNA SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr14:22564822G>A ENST00000390452.2 + 0 291 AGAAAGCAGCGAAATCCGTCG 0.423000 6 19 0 0 0.001984 0 0 PPP6R2 9701 broad.mit.edu 37 22 50845137 50845137 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr22:50845137G>A ENST00000359139.3 + 4 641 c.247G>A c.(247-249)Gag>Aag p.E83K PPP6R2_ENST00000216061.5_Missense_Mutation_p.E83K|PPP6R2_ENST00000395744.3_Missense_Mutation_p.E83K|PPP6R2_ENST00000395741.3_Missense_Mutation_p.E83K NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 83 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 CACAGCCTGTGAGCTTCTGAC 0.527000 21 141 0 0 0.002299 0 0 TELO2 9894 broad.mit.edu 37 16 1544322 1544322 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr16:1544322G>A ENST00000262319.6 + 2 319 c.40G>A c.(40-42)Gaa>Aaa p.E14K NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 14 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) CGCCGTCCGGGAAGCCATTCA 0.622000 OREG0023547 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 34 0 0 0.004990 0 0 ANKRD33 341405 broad.mit.edu 37 12 52282015 52282015 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr12:52282015G>A ENST00000301190.6 + 1 272 c.45G>A c.(43-45)ggG>ggA p.G15G ANKRD33_ENST00000340970.4_5'UTR|ANKRD33_ENST00000538991.1_5'UTR NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 0 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) CCTGGGGAGGGATAGTCCACC 0.597000 17 80 0 0 0.008871 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106810423 106810423 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr11:106810423G>A ENST00000526355.1 - 4 1437 c.969C>T c.(967-969)ttC>ttT p.F323F GUCY1A2_ENST00000347596.2_Silent_p.F323F|GUCY1A2_ENST00000282249.2_Silent_p.F323F NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 323 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) AGGCTCTACAGAAGGTGTTGA 0.453000 3 7 0 0 0.004672 0 0 SOX10 6663 broad.mit.edu 37 22 38369509 38369509 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr22:38369509C>T ENST00000396884.2 - 4 1676 c.1394G>A c.(1393-1395)cGg>cAg p.R465Q POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Missense_Mutation_p.R465Q NM_006941.3 NP_008872.1 P56693 SOX10_HUMAN SRY (sex determining region Y)-box 10 465 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) CCTTTAGGGCCGGGACAGTGT 0.697000 4 1 0 0 0.000248 0 0 CYP19A1 1588 broad.mit.edu 37 15 51504711 51504711 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr15:51504711C>T ENST00000396402.1 - 9 1222 c.1069G>A c.(1069-1071)Gaa>Aaa p.E357K CYP19A1_ENST00000260433.2_Missense_Mutation_p.E357K|CYP19A1_ENST00000396404.4_Missense_Mutation_p.E357K|CYP19A1_ENST00000559878.1_Missense_Mutation_p.E357K|RP11-108K3.1_ENST00000559909.1_lincRNA NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 357 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) ATGAAGTTTTCCATCACTTTT 0.388000 13 13 0 0 0.001855 0 0 PELI2 57161 broad.mit.edu 37 14 56763440 56763440 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr14:56763440C>T ENST00000267460.4 + 6 1105 c.819C>T c.(817-819)ctC>ctT p.L273L NM_021255.2 NP_067078.1 Q9HAT8 PELI2_HUMAN pellino E3 ubiquitin protein ligase family member 2 273 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 22 TAGAAGCCCTCCGGCAGGAGA 0.587000 4 23 0 0 0.000602 0 0 IGHV1-18 28468 broad.mit.edu 37 14 106641622 106641622 + RNA SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr14:106641622C>T ENST00000390605.2 - 0 350 TCCATGTAGGCTGTGCTCGTG 0.522000 18 68 0 0 0.007413 0 0 CHRM2 1129 broad.mit.edu 37 7 136700910 136700910 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:136700910G>A ENST00000445907.2 + 3 1826 c.1298G>A c.(1297-1299)aGc>aAc p.S433N AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.S433N|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.S433N|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.S433N|CHRM2_ENST00000402486.3_Missense_Mutation_p.S433N|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.S433N|AC009264.1_ENST00000586239.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 433 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) TACATCAACAGCACTATCAAC 0.453000 13 19 0 0 0.002450 0 0 TMEM130 222865 broad.mit.edu 37 7 98445848 98445848 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:98445848G>A ENST00000416379.2 - 8 1143 c.1139C>T c.(1138-1140)tCc>tTc p.S380F TMEM130_ENST00000345589.4_Intron|TMEM130_ENST00000546258.1_Intron|TMEM130_ENST00000450876.1_Intron|TMEM130_ENST00000339375.4_Intron Q8N3G9 TM130_HUMAN transmembrane protein 130 380 Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AGACATGGGGGAAAAGTCAAA 0.567000 12 29 0 0 0.001855 0 0 SPTBN2 6712 broad.mit.edu 37 11 66457350 66457350 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr11:66457350G>A ENST00000533211.1 - 29 6206 c.5875C>T c.(5875-5877)Cgg>Tgg p.R1959W SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1959W|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1959W O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1959 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CGGTCTGCCCGGGCCTCTATC 0.642000 8 25 0 0 0.004482 0 0 FAM177B 400823 broad.mit.edu 37 1 222920396 222920396 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:222920396G>A ENST00000445590.2 + 4 480 c.214G>A c.(214-216)Gga>Aga p.G72R FAM177B_ENST00000360827.2_Missense_Mutation_p.G72R NM_207468.2 NP_997351.2 A6PVY3 F177B_HUMAN family with sequence similarity 177, member B 72 breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 8 ATTTTGGGCAGGACGAATAGC 0.388000 15 30 0 0 0.007413 0 0 CATSPER1 117144 broad.mit.edu 37 11 65790426 65790426 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr11:65790426C>T ENST00000312106.5 - 2 1460 c.1323G>A c.(1321-1323)cgG>cgA p.R441R NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 441 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 GGGTCAGGTTCCGGATCATTT 0.542000 OREG0021092 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 31 0 0 0.005443 0 0 ADORA1 134 broad.mit.edu 37 1 203134427 203134427 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:203134427C>T ENST00000367236.4 + 3 1301 c.380C>T c.(379-381)gCc>gTc p.A127V ADORA1_ENST00000309502.3_Missense_Mutation_p.A127V|ADORA1_ENST00000337894.4_Missense_Mutation_p.A127V|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000472535.1_3'UTR NM_001048230.1 NP_001041695.1 P30542 AA1R_HUMAN adenosine A1 receptor 127 induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) GCGGCGGTGGCCATAGCCGGC 0.657000 16 21 0 0 0.006122 0 0 MGAM 8972 broad.mit.edu 37 7 141760163 141760163 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:141760163G>A ENST00000475668.2 + 34 4166 c.4112G>A c.(4111-4113)aGc>aAc p.S1371N MGAM_ENST00000549489.2_Missense_Mutation_p.S1371N O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1371 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GACTGGGACAGCCAAGTGGAG 0.493000 7 16 0 0 0.004482 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72657713 72657713 + RNA SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:72657713G>A ENST00000425256.1 - 0 2198 NR_002164.1 ttcatttctggaaaccaattt 0.468000 50 75 0 0 0.003610 0 0 FAM66D 100132923 broad.mit.edu 37 8 11985719 11985719 + RNA SNP A A T rs71511003 by1000genomes TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr8:11985719A>T ENST00000434078.2 + 0 608 NR_027425.1 CTGTTGACTCAAAGGAGAAGT 0.463000 3 6 0 0 0.000248 0 0 HERC2 8924 broad.mit.edu 37 15 28502277 28502277 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr15:28502277G>A ENST00000261609.7 - 17 2555 c.2447C>T c.(2446-2448)tCc>tTc p.S816F NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 816 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CCAGTCCGCGGAACCATCCAT 0.552000 20 52 0 0 0.007413 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 6 29 0 0 0.001984 0 0 PRPF8 10594 broad.mit.edu 37 17 1585565 1585565 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:1585565C>T ENST00000572621.1 - 3 557 c.292G>A c.(292-294)Gca>Aca p.A98T PRPF8_ENST00000304992.6_Missense_Mutation_p.A98T Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 98 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TTGAGGACTGCGTGGGGCATG 0.507000 16 54 0 0 0.008871 0 0 TRPM5 29850 broad.mit.edu 37 11 2437152 2437152 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr11:2437152C>T ENST00000452833.1 - 8 1126 c.1118G>A c.(1117-1119)gGg>gAg p.G373E TRPM5_ENST00000533060.1_Missense_Mutation_p.G371E|TRPM5_ENST00000155858.6_Missense_Mutation_p.G371E|TRPM5_ENST00000528453.1_Missense_Mutation_p.G371E Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 371 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) CTCCACGTCCCCATTGAAGAT 0.642000 68 87 0 0 0.003610 0 0 MYH2 4620 broad.mit.edu 37 17 10431190 10431190 + Splice_Site SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:10431190C>T ENST00000245503.5 - 28 4130 c.3744_splice c.e28-1 p.G1249_splice CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Splice_Site_p.G1249_splice|CTC-297N7.7_ENST00000399342.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1249 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CTCTAGGTTTCCCTATAGAAG 0.403000 11 29 0 0 0.008291 0 0 NBEAL1 65065 broad.mit.edu 37 2 203921152 203921152 + Missense_Mutation SNP A A C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:203921152A>C ENST00000449802.1 + 5 641 c.308A>C c.(307-309)aAt>aCt p.N103T NBEAL1_ENST00000478884.1_3'UTR NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 103 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TCTCACAGAAATCTATCAAAT 0.328000 44 181 0 0 0.003610 0 0 PHF7 51533 broad.mit.edu 37 3 52456779 52456779 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:52456779G>A ENST00000327906.3 + 10 1461 c.801G>A c.(799-801)agG>agA p.R267R PHF7_ENST00000478707.1_Silent_p.R267R|PHF7_ENST00000347025.2_Silent_p.R228R NM_016483.4 NP_057567.3 Q9BWX1 PHF7_HUMAN PHD finger protein 7 267 nucleus zinc ion binding breast(2)|large_intestine(4)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275) CCTCTAGGAGGTGGTGCCTCA 0.502000 12 86 0 0 0.001855 0 0 IGKV1-17 28937 broad.mit.edu 37 2 89416962 89416962 + RNA SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:89416962G>A ENST00000490686.1 - 0 248 TTTGCAAACTGGATGCAGCAT 0.507000 11 47 0 0 0.008291 0 0 DUSP1 1843 broad.mit.edu 37 5 172197251 172197251 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr5:172197251G>A ENST00000239223.3 - 2 668 c.426C>T c.(424-426)ccC>ccT p.P142P RP11-779O18.3_ENST00000523005.1_RNA NM_004417.3 NP_004408.1 P28562 DUS1_HUMAN dual specificity phosphatase 1 142 cell cycle|endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 10 Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729) all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GBM - Glioblastoma multiforme(465;0.0103) TGAGCCCCATGGGGGTCGACT 0.552000 4 10 0 0 0.000248 0 0 SCAND3 114821 broad.mit.edu 37 6 28547172 28547172 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr6:28547172C>T ENST00000452236.2 - 2 1062 c.445G>A c.(445-447)Gaa>Aaa p.E149K SCAND3_ENST00000530247.1_5'UTR NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 149 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ATAGAAACTTCCTGCCCATAT 0.413000 26 18 0 0 0.003954 0 0 PCED1B 91523 broad.mit.edu 37 12 47629311 47629311 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr12:47629311C>T ENST00000546455.1 + 4 1196 c.465C>T c.(463-465)ccC>ccT p.P155P PCED1B_ENST00000432328.1_Silent_p.P155P PC-esterase domain containing 1B AGGTGCTGCCCGAGTCTTGCC 0.622000 7 55 0 0 0.004482 0 0 DNAH5 1767 broad.mit.edu 37 5 13839615 13839615 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr5:13839615G>A ENST00000265104.4 - 35 5836 c.5732C>T c.(5731-5733)cCc>cTc p.P1911L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1911 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AAAGTCCATGGGACTCTTGAT 0.358000 Kartagener syndrome 3 16 0 0 0.004672 0 0 CELSR1 9620 broad.mit.edu 37 22 46930320 46930320 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr22:46930320G>A ENST00000262738.3 - 1 2747 c.2748C>T c.(2746-2748)gcC>gcT p.A916A CELSR1_ENST00000395964.1_Silent_p.A916A NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 916 Cadherin 7. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCCGGTCCGTGGCAGAGACCT 0.597000 4 33 0 0 0.000602 0 0 GNA11 2767 broad.mit.edu 37 19 3114976 3114976 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:3114976G>A ENST00000078429.4 + 4 753 c.511G>A c.(511-513)Ggc>Agc p.G171S NM_002067.2 NP_002058.2 P29992 GNA11_HUMAN guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 171 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16) 161 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) CGCCACCTTGGGCTACCTGCC 0.667000 Mis uveal melanoma 31 49 0 0 0.001786 0 0 CELF3 11189 broad.mit.edu 37 1 151678358 151678358 + Missense_Mutation SNP C C G TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:151678358C>G ENST00000290583.4 - 11 2003 c.1210G>C c.(1210-1212)Ggc>Cgc p.G404R CELF3_ENST00000392706.3_Missense_Mutation_p.G199R|CELF3_ENST00000290585.4_Missense_Mutation_p.G354R|CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA NM_001172648.1|NM_007185.4 NP_001166119.1|NP_009116.3 Q5SZQ8 CELF3_HUMAN CUGBP, Elav-like family member 3 404 RRM 3. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 21 ATGACGTGGCCAAAGGGGACA 0.483000 24 58 0 0 0.002780 0 0 NFATC4 4776 broad.mit.edu 37 14 24838810 24838810 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr14:24838810C>T ENST00000413692.2 + 3 539 c.395C>T c.(394-396)cCt>cTt p.P132L NFATC4_ENST00000539237.2_Missense_Mutation_p.P101L|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000554591.1_Missense_Mutation_p.P132L|NFATC4_ENST00000554966.1_Missense_Mutation_p.P82L|NFATC4_ENST00000554344.1_5'UTR|NFATC4_ENST00000250373.4_Missense_Mutation_p.P69L|NFATC4_ENST00000553469.1_Missense_Mutation_p.P101L|NFATC4_ENST00000424781.2_Missense_Mutation_p.P82L|NFATC4_ENST00000555590.1_Missense_Mutation_p.P82L|NFATC4_ENST00000556169.1_Missense_Mutation_p.P57L|NFATC4_ENST00000555453.1_Missense_Mutation_p.P57L|NFATC4_ENST00000553879.1_5'UTR|NFATC4_ENST00000422617.3_Missense_Mutation_p.P57L|NFATC4_ENST00000553708.1_Missense_Mutation_p.P69L|NFATC4_ENST00000554661.1_5'UTR|NFATC4_ENST00000554050.1_Missense_Mutation_p.P69L|NFATC4_ENST00000556279.1_Missense_Mutation_p.P101L|NFATC4_ENST00000557451.1_5'UTR NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 69 Pro-rich. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) CCCCCTCGGCCTGGCATGCAT 0.701000 11 40 0 0 0.001368 0 0 PPP2R4 5524 broad.mit.edu 37 9 131909681 131909681 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr9:131909681C>T ENST00000337738.1 + 11 1282 c.1015C>T c.(1015-1017)Cct>Tct p.P339S PPP2R4_ENST00000347048.4_Missense_Mutation_p.P85S|PPP2R4_ENST00000419582.1_Missense_Mutation_p.P42S|PPP2R4_ENST00000434095.1_Missense_Mutation_p.P42S|PPP2R4_ENST00000355007.3_Missense_Mutation_p.P262S|PPP2R4_ENST00000432651.1_Missense_Mutation_p.P42S|PPP2R4_ENST00000414510.1_Missense_Mutation_p.P42S|PPP2R4_ENST00000423100.1_Missense_Mutation_p.P42S|PPP2R4_ENST00000358994.4_Missense_Mutation_p.P304S|PPP2R4_ENST00000393370.2_Missense_Mutation_p.P304S|PPP2R4_ENST00000357197.4_Missense_Mutation_p.P275S|PPP2R4_ENST00000435132.1_Missense_Mutation_p.P42S|PPP2R4_ENST00000348141.5_Missense_Mutation_p.P310S NM_178001.2 NP_821068.1 Q15257 PTPA_HUMAN protein phosphatase 2A activator, regulatory subunit 4 339 ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Medulloblastoma(224;0.235) UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) GGAGAAGTTCCCTGTGATCCA 0.632000 11 23 0 0 0.001368 0 0 PRTG 283659 broad.mit.edu 37 15 55965814 55965814 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr15:55965814G>A ENST00000389286.4 - 10 1654 c.1607C>T c.(1606-1608)tCc>tTc p.S536F NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 536 Fibronectin type-III 2. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TGGCAGCCAGGAGATGAGAAT 0.448000 23 46 0 0 0.003330 0 0 CAPNS1 826 broad.mit.edu 37 19 36637136 36637136 + Nonsense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:36637136C>T ENST00000246533.3 + 9 1241 c.643C>T c.(643-645)Cga>Tga p.R215* AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588780.1_Nonsense_Mutation_p.R225*|CAPNS1_ENST00000590874.1_Nonsense_Mutation_p.R185*|CAPNS1_ENST00000589146.1_Nonsense_Mutation_p.R41*|CAPNS1_ENST00000588815.1_Nonsense_Mutation_p.R215*|CAPNS1_ENST00000587718.1_Nonsense_Mutation_p.R215* NM_001003962.1|NM_001749.2 NP_001003962.1|NP_001740.1 P04632 CPNS1_HUMAN calpain, small subunit 1 215 EF-hand 4. positive regulation of cell proliferation cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CATGATCATCCGACGCTACTC 0.527000 21 92 0 0 0.001882 0 0 LRP2 4036 broad.mit.edu 37 2 170135937 170135937 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:170135937G>A ENST00000263816.3 - 12 1795 c.1510C>T c.(1510-1512)Ctt>Ttt p.L504F LRP2_ENST00000443831.1_Missense_Mutation_p.L504F NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 504 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCAGTTATAAGGGTAACCCGA 0.398000 10 24 0 0 0.008291 0 0 GK 2710 broad.mit.edu 37 X 30745606 30745606 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:30745606C>T ENST00000378943.3 + 19 1767 c.1588C>T c.(1588-1590)Ctg>Ttg p.L530L GK_ENST00000378946.3_Intron|GK_ENST00000378945.3_Intron|GK_ENST00000427190.1_Silent_p.L331L NM_001128127.2 NP_001121599.1 P32189 GLPK_HUMAN glycerol kinase 536 glycerol-3-phosphate metabolic process|triglyceride biosynthetic process cytosol|mitochondrial outer membrane ATP binding|glycerol kinase activity central_nervous_system(1)|large_intestine(3) 4 CTTCTGTAGTCTGCCCTTGGG 0.373000 8 17 0 0 0.006214 0 0 PHLDB2 90102 broad.mit.edu 37 3 111658337 111658337 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:111658337G>A ENST00000431670.2 + 7 2557 c.2146G>A c.(2146-2148)Gat>Aat p.D716N PHLDB2_ENST00000393923.3_Missense_Mutation_p.D700N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.D673N|PHLDB2_ENST00000481953.1_Missense_Mutation_p.D673N|PHLDB2_ENST00000495180.1_Missense_Mutation_p.D302N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.D716N NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 716 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 TGACCTGTTGGATGTTGAAAG 0.413000 5 21 0 0 0.000602 0 0 FAM189B 10712 broad.mit.edu 37 1 155220925 155220925 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:155220925C>T ENST00000361361.2 - 8 1434 c.925G>A c.(925-927)Ggc>Agc p.G309S FAM189B_ENST00000350210.2_Missense_Mutation_p.G213S|FAM189B_ENST00000368368.3_Missense_Mutation_p.G291S|FAM189B_ENST00000472550.1_5'UTR NM_006589.2 NP_006580.2 P81408 F189B_HUMAN family with sequence similarity 189, member B 309 integral to membrane WW domain binding breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 ATGCACGAGCCATCGTGAAGC 0.592000 OREG0013858 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 19 0 0 0.000978 0 0 GNA11 2767 broad.mit.edu 37 19 3114975 3114975 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:3114975G>A ENST00000078429.4 + 4 752 c.510G>A c.(508-510)ttG>ttA p.L170L NM_002067.2 NP_002058.2 P29992 GNA11_HUMAN guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 170 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16) 161 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) TCGCCACCTTGGGCTACCTGC 0.667000 Mis uveal melanoma 32 48 0 0 0.002096 0 0 ABCA9 10350 broad.mit.edu 37 17 66985995 66985995 + Missense_Mutation SNP T T C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:66985995T>C ENST00000340001.4 - 30 4125 c.3914A>G c.(3913-3915)aAa>aGa p.K1305R ABCA9_ENST00000370732.2_Missense_Mutation_p.K1305R|ABCA9_ENST00000453985.2_Missense_Mutation_p.K1267R NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1305 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) GGCAATTTTTTTCTTCCTTTT 0.353000 11 12 0 0 0.001368 0 0 ZNF302 55900 broad.mit.edu 37 19 35175586 35175586 + Missense_Mutation SNP T T C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:35175586T>C ENST00000505242.1 + 5 1138 c.644T>C c.(643-645)aTc>aCc p.I215T ZNF302_ENST00000457781.2_Missense_Mutation_p.I215T|ZNF302_ENST00000423823.2_Missense_Mutation_p.I215T|ZNF302_ENST00000446502.2_Missense_Mutation_p.I259T|ZNF302_ENST00000505365.2_3'UTR Q9NR11 ZN302_HUMAN zinc finger protein 302 294 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) AAACAGTCAATCCTCAGTCGC 0.453000 11 39 0 0 0.001368 0 0 OR2T3 343173 broad.mit.edu 37 1 248637424 248637424 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:248637424G>A ENST00000359594.2 + 1 798 c.773G>A c.(772-774)gGt>gAt p.G258D NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTGCTCTTCGGTGCTTCCTTC 0.547000 27 97 0 0 0.006320 0 0 KRT38 8687 broad.mit.edu 37 17 39594521 39594521 + Silent SNP G G A rs146972741 TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:39594521G>A ENST00000246646.3 - 6 1064 c.1065C>T c.(1063-1065)ttC>ttT p.F355F NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 355 Coil 2.|Rod. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) GCTCCGTGCCGAAGCGGTCCT 0.567000 19 23 0 0 0.008871 0 0 CSMD3 114788 broad.mit.edu 37 8 113988232 113988232 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr8:113988232C>T ENST00000297405.5 - 7 1420 c.1176G>A c.(1174-1176)gaG>gaA p.E392E CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Silent_p.E352E|CSMD3_ENST00000352409.3_Silent_p.E392E NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 392 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CTCGCTGTTCCTCGGAAAGTC 0.498000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 25 0 0 0.002450 0 0 NEMF 9147 broad.mit.edu 37 14 50267277 50267277 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr14:50267277C>T ENST00000298310.5 - 23 2682 c.2233G>A c.(2233-2235)Gaa>Aaa p.E745K NEMF_ENST00000545773.1_Missense_Mutation_p.E703K|NEMF_ENST00000546046.1_Missense_Mutation_p.E724K|NEMF_ENST00000556925.1_5'UTR O60524 NEMF_HUMAN nuclear export mediator factor 745 cytoplasm|nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 36 GAGCTTTCTTCCTGAATGAGC 0.413000 8 40 0 0 0.004482 0 0 ZNF17 7565 broad.mit.edu 37 19 57931243 57931243 + Missense_Mutation SNP G G C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:57931243G>C ENST00000307658.7 + 4 652 c.389G>C c.(388-390)aGt>aCt p.S130T ZNF17_ENST00000595206.1_3'UTR|ZNF17_ENST00000601808.1_Missense_Mutation_p.S128T|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Missense_Mutation_p.140_140insT P17021 ZNF17_HUMAN zinc finger protein 17 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) CTCACCAGAAGTGATGAAGGG 0.498000 8 33 0 0 0.003080 0 0 MUC2 4583 broad.mit.edu 37 11 1097262 1097262 + Silent SNP G G C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr11:1097262G>C ENST00000441003.2 + 35 6705 c.6678G>C c.(6676-6678)gtG>gtC p.V2226V MUC2_ENST00000361558.6_Silent_p.V364V NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4588 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TCAACTACGTGGTGGACATCC 0.607000 15 10 0 0 0.004007 0 0 HEXDC 284004 broad.mit.edu 37 17 80382341 80382341 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:80382341G>A ENST00000337014.6 + 3 630 c.156G>A c.(154-156)gaG>gaA p.E52E HEXDC_ENST00000577944.1_Silent_p.E52E|HEXDC_ENST00000327949.9_Silent_p.E52E NM_173620.2 NP_775891.2 Q8WVB3 HEXDC_HUMAN hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 52 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) TTCCCTACGAGGGCCCTCTGA 0.597000 19 35 0 0 0.001882 0 0 ACAP2 23527 broad.mit.edu 37 3 195000119 195000119 + Nonsense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:195000119G>A ENST00000326793.6 - 23 2505 c.2275C>T c.(2275-2277)Caa>Taa p.Q759* ACAP2_ENST00000472860.1_5'UTR NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 759 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 GATGCCATTTGGGAAAAATCA 0.303000 11 51 0 0 0.000978 0 0 OTOF 9381 broad.mit.edu 37 2 26699830 26699830 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:26699830C>T ENST00000272371.2 - 22 2731 c.2605G>A c.(2605-2607)Gac>Aac p.D869N OTOF_ENST00000402415.3_Missense_Mutation_p.D179N|OTOF_ENST00000339598.3_Missense_Mutation_p.D122N|OTOF_ENST00000403946.3_Missense_Mutation_p.D869N|OTOF_ENST00000338581.6_Missense_Mutation_p.D122N NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 869 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGAGCAGGTCCTTGGAGGGC 0.612000 4 22 0 0 0.000248 0 0 HMCN1 83872 broad.mit.edu 37 1 185987424 185987424 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:185987424C>T ENST00000271588.4 + 34 5639 c.5410C>T c.(5410-5412)Cgg>Tgg p.R1804W HMCN1_ENST00000367492.2_Missense_Mutation_p.R1804W NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1804 Ig-like C2-type 15. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AGGCCTTTATCGGTGCATGGC 0.418000 10 16 0 0 0.006214 0 0 PTPN21 11099 broad.mit.edu 37 14 88946268 88946268 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr14:88946268G>A ENST00000556564.1 - 13 1791 c.1507C>T c.(1507-1509)Ccc>Tcc p.P503S PTPN21_ENST00000328736.3_Missense_Mutation_p.P503S NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 503 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GCTGGCGAGGGGAGCTGTGCG 0.701000 9 30 0 0 0.006214 0 0 TRMT44 152992 broad.mit.edu 37 4 8472856 8472856 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr4:8472856C>T ENST00000389737.4 + 10 1973 c.1973C>T c.(1972-1974)aCc>aTc p.T658I NM_152544.2 NP_689757.2 tRNA methyltransferase 44 homolog (S. cerevisiae) GACACGGAGACCCTGCGGAGG 0.572000 43 64 0 0 0.002522 0 0 COL4A4 1286 broad.mit.edu 37 2 227924291 227924291 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:227924291G>A ENST00000396625.3 - 28 2420 c.2213C>T c.(2212-2214)tCc>tTc p.S738F COL4A4_ENST00000329662.7_Missense_Mutation_p.S738F NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 738 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) AACAGGGGAGGACCCCTTTTC 0.512000 16 47 0 0 0.008871 0 0 ART3 419 broad.mit.edu 37 4 77003171 77003171 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr4:77003171G>A ENST00000355810.4 + 3 383 c.264G>A c.(262-264)atG>atA p.M88I ART3_ENST00000513494.1_3'UTR|ART3_ENST00000341029.5_Missense_Mutation_p.M88I|ART3_ENST00000349321.3_Missense_Mutation_p.M88I NM_001130016.2 NP_001123488.1 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 88 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1) 16 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TTCTCCCTATGAATTTTAAGG 0.428000 5 30 0 0 0.000602 0 0 CHD5 26038 broad.mit.edu 37 1 6195313 6195313 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:6195313C>T ENST00000262450.3 - 18 2946 c.2847G>A c.(2845-2847)cgG>cgA p.R949R CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 949 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TCAGCTCCACCCGGACAATGA 0.617000 30 28 0 0 0.008361 0 0 FAM196A 642938 broad.mit.edu 37 10 128974537 128974537 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr10:128974537C>T ENST00000522781.1 - 4 678 c.123G>A c.(121-123)cgG>cgA p.R41R FAM196A_ENST00000424811.2_Silent_p.R41R|DOCK1_ENST00000280333.6_Intron NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 41 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GGGCTTTGTTCCGTTTTTTAA 0.582000 14 98 0 0 0.002450 0 0 SPG20 23111 broad.mit.edu 37 13 36909411 36909411 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr13:36909411G>A ENST00000451493.1 - 2 774 c.557C>T c.(556-558)tCc>tTc p.S186F SPG20_ENST00000494062.2_Missense_Mutation_p.S186F|SPG20_ENST00000355182.4_Missense_Mutation_p.S186F|SPG20_ENST00000438666.2_Missense_Mutation_p.S186F|SPG20_ENST00000495510.1_5'UTR NM_001142295.1 NP_001135767.1 Q8N0X7 SPG20_HUMAN spastic paraplegia 20 (Troyer syndrome) 186 cell death cytoplasm ubiquitin protein ligase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 27 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) TGTTCCATAGGATACAGTGTA 0.478000 9 20 0 0 0.000978 0 0 MAGT1 84061 broad.mit.edu 37 X 77112981 77112981 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:77112981G>A ENST00000358075.6 - 4 586 c.500C>T c.(499-501)tCa>tTa p.S167L NM_032121.5 NP_115497.4 Q9H0U3 MAGT1_HUMAN magnesium transporter 1 135 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 17 AGTTGGAGCTGAATTCATGTT 0.378000 32 59 0 0 0.003271 0 0 CPED1 79974 broad.mit.edu 37 7 120906769 120906769 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:120906769C>T ENST00000310396.5 + 20 3007 c.2540C>T c.(2539-2541)cCc>cTc p.P847L NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 AGATCACGTCCCCTAGAGAAT 0.398000 7 12 0 0 0.003080 0 0 NBEA 26960 broad.mit.edu 37 13 35619123 35619123 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr13:35619123G>A ENST00000400445.3 + 3 1100 c.566G>A c.(565-567)aGc>aAc p.S189N NBEA_ENST00000379939.2_Missense_Mutation_p.S189N|NBEA_ENST00000310336.4_Missense_Mutation_p.S189N|NBEA_ENST00000540320.1_Missense_Mutation_p.S189N NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 189 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GCCAGCTACAGCATCACTGTC 0.433000 4 8 0 0 0.000248 0 0 CRELD2 79174 broad.mit.edu 37 22 50313864 50313864 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr22:50313864C>T ENST00000404488.3 + 4 519 c.384C>T c.(382-384)tgC>tgT p.C128C CRELD2_ENST00000403427.3_Silent_p.C128C|CRELD2_ENST00000328268.4_Silent_p.C128C|CRELD2_ENST00000407217.3_Silent_p.C128C NM_001135101.1 NP_001128573.1 Q6UXH1 CREL2_HUMAN cysteine-rich with EGF-like domains 2 128 endoplasmic reticulum|extracellular region calcium ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3) 9 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247) AAGTGTGCTGCTCTCCAGGAA 0.498000 22 26 0 0 0.002780 0 0 CCDC108 255101 broad.mit.edu 37 2 219871203 219871203 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:219871203G>A ENST00000341552.5 - 30 4786 c.4703C>T c.(4702-4704)cCt>cTt p.P1568L CCDC108_ENST00000453220.1_Missense_Mutation_p.P1568L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1568L|AC097468.4_ENST00000441450.1_RNA NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1568 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTTCCTCGCAGGTTCACAGGC 0.572000 40 78 0 0 0.003610 0 0 MMS22L 253714 broad.mit.edu 37 6 97599671 97599671 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr6:97599671G>A ENST00000275053.4 - 23 3723 c.3458C>T c.(3457-3459)tCc>tTc p.S1153F MMS22L_ENST00000369251.2_Missense_Mutation_p.S1113F NM_198468.2 NP_940870.2 Q6ZRQ5 MMS22_HUMAN MMS22-like, DNA repair protein 1153 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 50 CAGCTGGGAGGAAGGTTCTTC 0.428000 12 37 0 0 0.002450 0 0 C6orf10 10665 broad.mit.edu 37 6 32317528 32317528 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr6:32317528C>T ENST00000375015.4 - 9 469 c.269G>A c.(268-270)cGa>cAa p.R90Q C6orf10_ENST00000442822.2_Missense_Mutation_p.R83Q|C6orf10_ENST00000527965.1_Missense_Mutation_p.R83Q|C6orf10_ENST00000375007.4_Missense_Mutation_p.R111Q|C6orf10_ENST00000447241.2_Missense_Mutation_p.R113Q|C6orf10_ENST00000533191.1_Missense_Mutation_p.R90Q Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 90 integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 AATACTTGATCGAGACAGTGC 0.383000 5 30 0 0 0.000602 0 0 CRP 1401 broad.mit.edu 37 1 159683548 159683548 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:159683548C>T ENST00000255030.5 - 2 545 c.442G>A c.(442-444)Gaa>Aaa p.E148K CRP_ENST00000437342.1_5'UTR|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368112.1_Intron|CRP_ENST00000343919.2_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000368111.1_Intron NM_000567.2 NP_000558.2 P02741 CRP_HUMAN C-reactive protein, pentraxin-related 148 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) ATGCTTGCTTCTGCCCCCACA 0.547000 105 180 0 0 0.003610 0 0 SLIT2 9353 broad.mit.edu 37 4 20591305 20591305 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr4:20591305G>A ENST00000504154.1 + 30 3379 c.3127G>A c.(3127-3129)Gac>Aac p.D1043N SLIT2_ENST00000503837.1_Missense_Mutation_p.D1039N|SLIT2_ENST00000503823.1_Missense_Mutation_p.D1035N|SLIT2_ENST00000273739.5_Missense_Mutation_p.D1056N NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1043 EGF-like 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CTGTGCCCAGGACCTGAACCC 0.507000 7 35 0 0 0.003080 0 0 STX2 2054 broad.mit.edu 37 12 131283119 131283119 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr12:131283119G>A ENST00000261653.6 - 9 903 c.737C>T c.(736-738)gCt>gTt p.A246V STX2_ENST00000392373.2_Missense_Mutation_p.A246V NM_001980.3 NP_001971.2 P32856 STX2_HUMAN syntaxin 2 246 t-SNARE coiled-coil homology. acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction basolateral plasma membrane|integral to membrane|microsome|soluble fraction calcium-dependent protein binding|SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1) 16 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05) TTCTTCTTTAGCGTGTTCTAC 0.338000 24 88 0 0 0.005443 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370147 35370147 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:35370147G>A ENST00000373347.1 - 3 1106 c.838C>T c.(838-840)Cct>Tct p.P280S DLGAP3_ENST00000235180.4_Missense_Mutation_p.P280S O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 280 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane p.P280A(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) GGCTCCCCAGGGGGCCTCCCA 0.677000 7 61 0 0 0.001984 0 0 GPR50 9248 broad.mit.edu 37 X 150348293 150348293 + Missense_Mutation SNP T T A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:150348293T>A ENST00000218316.3 + 2 307 c.238T>A c.(238-240)Tac>Aac p.Y80N NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 80 cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) GGTGGCCATCTACCCATACCC 0.522000 42 242 0 0 0.003610 0 0 ABI3 51225 broad.mit.edu 37 17 47295174 47295174 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:47295174C>T ENST00000225941.1 + 3 857 c.359C>T c.(358-360)cCc>cTc p.P120L ABI3_ENST00000419580.2_Missense_Mutation_p.P114L NM_001135186.1|NM_016428.2 NP_001128658.1|NP_057512.1 Q9P2A4 ABI3_HUMAN ABI family, member 3 120 cellular component movement|regulation of cell migration cytoplasm|lamellipodium protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 12 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) CGGCTGCCCCCCGGCCAGAAG 0.602000 HNSCC(55;0.14) 10 30 0 0 0.001368 0 0 PCDH12 51294 broad.mit.edu 37 5 141335230 141335230 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr5:141335230G>A ENST00000231484.3 - 1 3397 c.2187C>T c.(2185-2187)ttC>ttT p.F729F NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 729 neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATCAACCCGAAGATGCCCA 0.592000 9 29 0 0 0.006214 0 0 SLIT2 9353 broad.mit.edu 37 4 20521064 20521064 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr4:20521064C>T ENST00000504154.1 + 12 1370 c.1118C>T c.(1117-1119)tCc>tTc p.S373F SLIT2_ENST00000503837.1_Missense_Mutation_p.S377F|SLIT2_ENST00000503823.1_Missense_Mutation_p.S373F|SLIT2_ENST00000273739.5_Missense_Mutation_p.S377F NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 373 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GGACTGTTTTCCTTACAGCTC 0.313000 6 27 0 0 0.001168 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17965056 17965056 + Splice_Site SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:17965056G>A ENST00000361221.3 + 20 2202 c.e20-1 ARHGEF10L_ENST00000452522.1_Splice_Site|ARHGEF10L_ENST00000375408.3_Splice_Site|ARHGEF10L_ENST00000375415.1_Splice_Site|ARHGEF10L_ENST00000434513.1_Splice_Site|ARHGEF10L_ENST00000375420.3_Splice_Site|ARHGEF10L_ENST00000469726.1_Splice_Site|ARHGEF10L_ENST00000167825.4_Splice_Site NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) CTGAACCCTAGAACCTGAACA 0.562000 16 26 0 0 0.006122 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90499936 90499936 + Silent SNP G G A rs147565798 TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr9:90499936G>A ENST00000325643.5 + 4 600 c.534G>A c.(532-534)ggG>ggA p.G178G NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 AGCCGCATGGGAAATGCATGC 0.642000 16 37 0 0 0.004990 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 37 0 0 0.000248 0 0 SSH1 54434 broad.mit.edu 37 12 109182779 109182779 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr12:109182779G>A ENST00000326495.5 - 15 2228 c.2135C>T c.(2134-2136)cCc>cTc p.P712L SSH1_ENST00000360239.3_Missense_Mutation_p.P400L NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 712 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TAGGAACGGGGGAGGTTCGGT 0.657000 5 57 0 0 0.001168 0 0 OR6C3 254786 broad.mit.edu 37 12 55726246 55726246 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr12:55726246C>T ENST00000379667.1 + 1 762 c.762C>T c.(760-762)ttC>ttT p.F254F NM_054104.1 NP_473445.1 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, member 3 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 GCTGTATATTCATGTATGCTA 0.388000 4 14 0 0 0.000248 0 0 GLA 2717 broad.mit.edu 37 X 100656651 100656651 + Missense_Mutation SNP A A C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:100656651A>C ENST00000218516.3 - 3 537 c.516T>G c.(514-516)tgT>tgG p.C172W GLA_ENST00000493905.1_Intron|RPL36A-HNRNPH2_ENST00000409170.3_Intron NM_000169.2 NP_000160.1 P06280 AGAL_HUMAN galactosidase, alpha 172 C -> R (in FD).|C -> Y (in FD). glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process extracellular region|Golgi apparatus|lysosome cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding endometrium(1)|kidney(1)|large_intestine(4)|lung(8) 14 Agalsidase beta(DB00103) TGTCACAGTAACAACCATCAA 0.438000 8 53 0 0 0.008291 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148800397 148800397 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr4:148800397G>A ENST00000336498.3 + 9 1086 c.847G>A c.(847-849)Ggt>Agt p.G283S NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 283 PH. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) TGCTCCGTTTGGTTCCAGTTG 0.388000 20 31 0 0 0.008871 0 0 SCN3A 6328 broad.mit.edu 37 2 165984140 165984140 + Splice_Site SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:165984140C>T ENST00000360093.3 - 18 3885 c.e18+1 SCN3A_ENST00000283254.7_Splice_Site|SCN3A_ENST00000409101.3_Splice_Site NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) AGCATTCTTACCTCTTTGCTT 0.343000 7 15 0 0 0.001984 0 0 SLC12A6 9990 broad.mit.edu 37 15 34531303 34531303 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr15:34531303G>A ENST00000354181.3 - 20 2987 c.2495C>T c.(2494-2496)gCc>gTc p.A832V SLC12A6_ENST00000558589.1_Missense_Mutation_p.A823V|SLC12A6_ENST00000397702.2_Missense_Mutation_p.A773V|SLC12A6_ENST00000560164.1_Missense_Mutation_p.A644V|SLC12A6_ENST00000558667.1_Missense_Mutation_p.A832V|SLC12A6_ENST00000290209.5_Missense_Mutation_p.A781V|SLC12A6_ENST00000397707.2_Missense_Mutation_p.A817V|SLC12A6_ENST00000451844.2_Missense_Mutation_p.A644V|SLC12A6_ENST00000458406.2_Missense_Mutation_p.A773V|SLC12A6_ENST00000560611.1_Missense_Mutation_p.A832V Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 832 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) CAGCTTGGCGGCCACCACCAG 0.552000 50 100 0 0 0.003610 0 0 SERINC1 57515 broad.mit.edu 37 6 122767981 122767981 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr6:122767981G>A ENST00000368454.1 - 11 1493 c.1164C>T c.(1162-1164)ttC>ttT p.F388F SERINC1_ENST00000339697.3_Silent_p.F388F Q9NRX5 SERC1_HUMAN serine incorporator 1 388 phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane L-serine transmembrane transporter activity|protein binding endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1) 13 GBM - Glioblastoma multiforme(226;0.126) TGAAGTGAAAGAAGGAATAAC 0.413000 5 15 0 0 0.000602 0 0 SLC38A1 81539 broad.mit.edu 37 12 46623362 46623362 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr12:46623362C>T ENST00000398637.5 - 4 877 c.183G>A c.(181-183)aaG>aaA p.K61K SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Silent_p.K61K|SLC38A1_ENST00000552197.1_Silent_p.K61K|SLC38A1_ENST00000546893.1_Silent_p.K61K|SLC38A1_ENST00000549049.1_Silent_p.K61K NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 61 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) CATCACACTTCTTTTTTTCCA 0.284000 22 39 0 0 0.001882 0 0 CTBS 1486 broad.mit.edu 37 1 85029074 85029074 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:85029074G>A ENST00000370630.4 - 6 871 c.823C>T c.(823-825)Cct>Tct p.P275S CTBS_ENST00000477677.1_5'UTR NM_004388.2 NP_004379.1 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- 275 lysosome cation binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 9 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) CCCCGGAAAGGGACTTTTGCA 0.383000 4 28 0 0 0.000248 0 0 LRWD1 222229 broad.mit.edu 37 7 102108811 102108811 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:102108811G>A ENST00000292616.5 + 7 1058 c.906G>A c.(904-906)ccG>ccA p.P302P NM_152892.1 NP_690852.1 Q9UFC0 LRWD1_HUMAN leucine-rich repeats and WD repeat domain containing 1 302 chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin chromatin binding|methyl-CpG binding|methylated histone residue binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2) 20 CCTTCGAGCCGGCCTGGGAGG 0.652000 8 15 0 0 0.008291 0 0 ABHD15 116236 broad.mit.edu 37 17 27893573 27893573 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:27893573C>T ENST00000307201.4 - 1 582 c.412G>A c.(412-414)Gac>Aac p.D138N RP11-68I3.2_ENST00000581474.1_RNA|TP53I13_ENST00000584522.1_3'UTR NM_198147.2 NP_937790.2 Q6UXT9 ABH15_HUMAN abhydrolase domain containing 15 138 extracellular region carboxylesterase activity breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 10 ACCACCCAGTCCAGGGCCACT 0.687000 4 15 0 0 0.000248 0 0 GDF2 2658 broad.mit.edu 37 10 48416352 48416352 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr10:48416352C>T ENST00000249598.1 - 1 501 c.342G>A c.(340-342)atG>atA p.M114I NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 114 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 CCCTACCTTCCATGCTGAAGC 0.602000 6 19 0 0 0.001984 0 0 CDHR3 222256 broad.mit.edu 37 7 105672950 105672950 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:105672950G>A ENST00000542731.1 + 19 2573 c.2465G>A c.(2464-2466)cGc>cAc p.R822H CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000317716.9_Missense_Mutation_p.R822H|CDHR3_ENST00000478080.1_Missense_Mutation_p.R734H Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 822 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 GCTGCCCCACGCAGAGTCACT 0.527000 11 31 0 0 0.000978 0 0 SAFB 6294 broad.mit.edu 37 19 5667119 5667119 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:5667119G>A ENST00000292123.5 + 18 2504 c.2397G>A c.(2395-2397)ggG>ggA p.G799G SAFB_ENST00000592224.1_Silent_p.G798G|SAFB_ENST00000454510.1_Silent_p.G730G|SAFB_ENST00000588852.1_Silent_p.G799G|SAFB_ENST00000433404.1_Silent_p.G629G|SAFB_ENST00000538656.1_Silent_p.G641G NM_001201338.1|NM_001201339.1|NM_002967.3 NP_001188267.1|NP_001188268.1|NP_002958.2 Q15424 SAFB1_HUMAN scaffold attachment factor B 799 Arg-rich.|Gly-rich.|Interaction with SAFB2. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) ATGGCTGGGGGGGCTATGGCT 0.647000 9 27 0 0 0.004482 0 0 ZNF81 347344 broad.mit.edu 37 X 47775073 47775073 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:47775073C>T ENST00000376954.1 + 6 1396 c.1028C>T c.(1027-1029)tCa>tTa p.S343L ZNF81_ENST00000338637.7_Missense_Mutation_p.S343L P51508 ZNF81_HUMAN zinc finger protein 81 343 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(1)|lung(1)|skin(1) 4 all_lung(315;0.0973) ATCCAGAATTCAGAATTAATT 0.358000 4 11 0 0 0.000602 0 0 GSPT2 23708 broad.mit.edu 37 X 51487452 51487452 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:51487452G>A ENST00000340438.4 + 1 972 c.730G>A c.(730-732)Gaa>Aaa p.E244K NM_018094.4 NP_060564.2 Q8IYD1 ERF3B_HUMAN G1 to S phase transition 2 244 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) AGAAGCTAAGGAAAAAAACAG 0.428000 6 22 0 0 0.001984 0 0 IRS1 3667 broad.mit.edu 37 2 227661607 227661607 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:227661607G>A ENST00000305123.4 - 1 2868 c.1848C>T c.(1846-1848)tcC>tcT p.S616S NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 616 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CCACCCCTGGGGACATGGGCA 0.632000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 19 0 0 0.001984 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559736 44559736 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr18:44559736G>A ENST00000332567.4 - 1 2252 c.1900C>T c.(1900-1902)Ccc>Tcc p.P634S KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 634 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CTGCCGTTGGGGTTGTTTCCA 0.527000 33 92 0 0 0.003271 0 0 ABI3 51225 broad.mit.edu 37 17 47295175 47295175 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:47295175C>T ENST00000225941.1 + 3 858 c.360C>T c.(358-360)ccC>ccT p.P120P ABI3_ENST00000419580.2_Silent_p.P114P NM_001135186.1|NM_016428.2 NP_001128658.1|NP_057512.1 Q9P2A4 ABI3_HUMAN ABI family, member 3 120 cellular component movement|regulation of cell migration cytoplasm|lamellipodium protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 12 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) GGCTGCCCCCCGGCCAGAAGG 0.602000 HNSCC(55;0.14) 9 29 0 0 0.000978 0 0 CDH23 64072 broad.mit.edu 37 10 73558877 73558877 + Missense_Mutation SNP T T G TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr10:73558877T>G ENST00000224721.6 + 50 7084 c.7079T>G c.(7078-7080)aTt>aGt p.I2360S CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.I115S NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2355 Cadherin 22. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GGGAAGGTCATTGCCAACCGG 0.587000 9 41 0 0 0.001368 0 0 C2orf42 54980 broad.mit.edu 37 2 70402819 70402819 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:70402819G>A ENST00000264434.2 - 5 1404 c.1025C>T c.(1024-1026)tCg>tTg p.S342L C2orf42_ENST00000420306.1_Missense_Mutation_p.S342L NM_017880.1 NP_060350.1 Q9NWW7 CB042_HUMAN chromosome 2 open reading frame 42 342 endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 12 CCTTTTTAACGAGGAAGCAAC 0.448000 44 208 0 0 0.003610 0 0 SNF8 11267 broad.mit.edu 37 17 47014475 47014475 + Missense_Mutation SNP A A G TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:47014475A>G ENST00000502492.1 - 4 638 c.256T>C c.(256-258)Ttt>Ctt p.F86L SNF8_ENST00000290330.3_Missense_Mutation_p.F86L|SNF8_ENST00000514089.1_5'UTR Q96H20 SNF8_HUMAN SNF8, ESCRT-II complex subunit 86 cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytosol|late endosome membrane|transcription factor complex transcription factor binding breast(1)|endometrium(1)|lung(1) 3 TCAGACCAAAATCCTTTTCCA 0.423000 14 69 0 0 0.004007 0 0 DEGS1 8560 broad.mit.edu 37 1 224377583 224377583 + Missense_Mutation SNP G G T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:224377583G>T ENST00000323699.4 + 2 553 c.387G>T c.(385-387)atG>atT p.M129I DEGS1_ENST00000465848.1_3'UTR|DEGS1_ENST00000391877.3_Missense_Mutation_p.M129I NM_003676.3 NP_003667.1 O15121 DEGS1_HUMAN delta(4)-desaturase, sphingolipid 1 129 sphingolipid metabolic process|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity breast(1)|kidney(3)|large_intestine(2)|lung(4) 10 Breast(184;0.193) GBM - Glioblastoma multiforme(131;0.00643) GGTATCACATGGATCATCATC 0.428000 6 166 0.00116845 0.00199368 0.001168 1 0 RASGRP1 10125 broad.mit.edu 37 15 38808488 38808488 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr15:38808488C>T ENST00000310803.5 - 6 762 c.585G>A c.(583-585)cgG>cgA p.R195R RASGRP1_ENST00000558164.1_Silent_p.R195R|RASGRP1_ENST00000450598.2_Silent_p.R195R|RASGRP1_ENST00000559830.1_Silent_p.R195R|RASGRP1_ENST00000539159.1_Silent_p.R147R|RASGRP1_ENST00000561180.1_Silent_p.R246R NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 195 cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) GGGAGACTTTCCGTTTCTTGC 0.463000 9 25 0 0 0.004482 0 0 GLIPR1 11010 broad.mit.edu 37 12 75875727 75875727 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr12:75875727G>A ENST00000266659.3 + 2 489 c.288G>A c.(286-288)ctG>ctA p.L96L NM_006851.2 NP_006842.2 P48060 GLIP1_HUMAN GLI pathogenesis-related 1 96 cellular lipid metabolic process extracellular region|integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 14 TCACTTCACTGGGAGAGAACA 0.488000 24 28 0 0 0.003330 0 0 ADAD1 132612 broad.mit.edu 37 4 123314757 123314757 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr4:123314757C>T ENST00000296513.2 + 6 728 c.543C>T c.(541-543)ttC>ttT p.F181F ADAD1_ENST00000388724.2_Silent_p.F181F|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Silent_p.F163F NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 181 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 CTCCTCCTTTCCCTGCAGAAC 0.343000 4 18 0 0 0.000602 0 0 TRAPPC9 83696 broad.mit.edu 37 8 140743318 140743318 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr8:140743318C>T ENST00000389328.4 - 23 3741 c.3727G>A c.(3727-3729)Gag>Aag p.E1243K TRAPPC9_ENST00000389327.3_Missense_Mutation_p.E1136K|TRAPPC9_ENST00000522504.1_5'UTR|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.E1145K NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 1145 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 GCCTGCGCCTCCAGGGCACAC 0.642000 10 20 0 0 0.006214 0 0 TCF7L2 6934 broad.mit.edu 37 10 114903757 114903757 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr10:114903757C>T ENST00000355995.4 + 7 1268 c.761C>T c.(760-762)cCc>cTc p.P254L TCF7L2_ENST00000538897.1_Missense_Mutation_p.P254L|TCF7L2_ENST00000352065.5_Missense_Mutation_p.P231L|TCF7L2_ENST00000369395.1_Missense_Mutation_p.P279L|TCF7L2_ENST00000355717.4_Missense_Mutation_p.P278L|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000349937.2_Missense_Mutation_p.P254L|TCF7L2_ENST00000369389.1_5'UTR|TCF7L2_ENST00000543371.1_Missense_Mutation_p.P254L|TCF7L2_ENST00000545257.1_Missense_Mutation_p.P254L|TCF7L2_ENST00000369397.4_Missense_Mutation_p.P231L|TCF7L2_ENST00000534894.1_Missense_Mutation_p.P254L|TCF7L2_ENST00000536810.1_Missense_Mutation_p.P254L Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 254 Mediates interaction with MAD2L2.|Pro-rich. anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) GGACAAATCCCCCATCCGCTA 0.458000 T VTI1A colorectal 48 210 0 0 0.003610 0 0 ANKEF1 63926 broad.mit.edu 37 20 10030446 10030446 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr20:10030446C>T ENST00000378380.3 + 6 1558 c.1229C>T c.(1228-1230)tCg>tTg p.S410L SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.S410L|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 GTCTTAGGATCGTATGGACCT 0.408000 10 14 0 0 0.001368 0 0 SYCP2L 221711 broad.mit.edu 37 6 10935386 10935386 + Silent SNP T T G TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr6:10935386T>G ENST00000283141.6 + 21 2075 c.1779T>G c.(1777-1779)gcT>gcG p.A593A NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 593 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) ATAGTTTTGCTTTTTTGACTG 0.348000 11 9 0 0 0.001368 0 0 TMTC3 160418 broad.mit.edu 37 12 88547269 88547269 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr12:88547269C>T ENST00000266712.6 + 3 611 c.391C>T c.(391-393)Cca>Tca p.P131S NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 131 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 TGCAGTGCACCCAATACATAC 0.313000 11 8 0 0 0.000978 0 0 AOC1 26 broad.mit.edu 37 7 150557656 150557656 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:150557656G>A ENST00000493429.1 + 6 2508 c.1924G>A c.(1924-1926)Gac>Aac p.D642N AOC1_ENST00000416793.2_Missense_Mutation_p.D661N|AOC1_ENST00000467291.1_Missense_Mutation_p.D642N|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.D642N amine oxidase, copper containing 1 p.D642N(1) CCACCAGAACGACCCCTGGCA 0.612000 30 59 0 0 0.001786 0 0 DAXX 1616 broad.mit.edu 37 6 33288199 33288199 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr6:33288199G>A ENST00000374542.5 - 4 1413 c.1209C>T c.(1207-1209)tcC>tcT p.S403S DAXX_ENST00000414083.2_Silent_p.S328S|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Silent_p.S403S NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 403 Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 CTGCAGAGTGGGAAGAGGTGC 0.547000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 24 49 0 0 0.004656 0 0 FBXO40 51725 broad.mit.edu 37 3 121341537 121341537 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:121341537G>A ENST00000338040.4 + 3 1675 c.1261G>A c.(1261-1263)Gga>Aga p.G421R NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 421 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) AAGCATTGATGGACTGTTCAT 0.512000 12 77 0 0 0.003163 0 0 NR1H2 7376 broad.mit.edu 37 19 50882384 50882384 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:50882384C>T ENST00000253727.5 + 7 1108 c.873C>T c.(871-873)ttC>ttT p.F291F NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000599105.1_Intron|NR1H2_ENST00000411902.2_Silent_p.F194F|NR1H2_ENST00000593926.1_Silent_p.F291F|NR1H2_ENST00000598168.1_Silent_p.F261F NM_007121.5 NP_009052.3 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 291 Ligand-binding (Potential). negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 8 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) TGCCTGGTTTCCTGCAGCTGG 0.592000 14 52 0 0 0.003163 0 0 MYH15 22989 broad.mit.edu 37 3 108219035 108219035 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:108219035C>T ENST00000273353.3 - 5 542 c.486G>A c.(484-486)ggG>ggA p.G162G NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 162 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 ATCGCCTCTTCCCTTTGTAGG 0.468000 7 11 0 0 0.006214 0 0 LIPF 8513 broad.mit.edu 37 10 90433396 90433396 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr10:90433396C>T ENST00000394375.3 + 8 864 c.751C>T c.(751-753)Ctt>Ttt p.L251F LIPF_ENST00000238983.4_Missense_Mutation_p.L241F|LIPF_ENST00000355843.2_Missense_Mutation_p.L208F NM_001198829.1 NP_001185758.1 P07098 LIPG_HUMAN lipase, gastric 241 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) TGATCAATTTCTTGCTACTGA 0.368000 21 52 0 0 0.001523 0 0 FAT4 79633 broad.mit.edu 37 4 126336393 126336393 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr4:126336393C>T ENST00000394329.3 + 5 6288 c.6275C>T c.(6274-6276)cCt>cTt p.P2092L FAT4_ENST00000335110.5_Missense_Mutation_p.P390L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2092 Cadherin 20. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTGCTGAACCCTTTGGGAAAC 0.418000 6 28 0 0 0.001984 0 0 FAM35A 54537 broad.mit.edu 37 10 88911479 88911479 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr10:88911479G>A ENST00000298786.4 + 3 482 c.368G>A c.(367-369)tGt>tAt p.C123Y FAM35A_ENST00000298784.1_Missense_Mutation_p.C123Y Q86V20 FA35A_HUMAN family with sequence similarity 35, member A 123 endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2) 16 ATGCAAATATGTGGATTTAAA 0.358000 13 25 0 0 0.001368 0 0 MAGEE1 57692 broad.mit.edu 37 X 75649911 75649911 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:75649911C>T ENST00000361470.2 + 1 1866 c.1588C>T c.(1588-1590)Cct>Tct p.P530S NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 530 MAGE 1. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CAACCAGTTTCCTGAGATACT 0.463000 21 23 0 0 0.001882 0 0 ANKRD26 22852 broad.mit.edu 37 10 27324073 27324073 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr10:27324073G>A ENST00000376087.4 - 24 3471 c.3306C>T c.(3304-3306)agC>agT p.S1102S ANKRD26_ENST00000376070.3_Silent_p.S659S|ANKRD26_ENST00000436985.2_Silent_p.S1118S NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1101 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 ACTGTGTTTGGCTTAGGTCCT 0.383000 13 57 0 0 0.002450 0 0 ZIM3 114026 broad.mit.edu 37 19 57647093 57647093 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:57647093G>A ENST00000269834.1 - 5 997 c.612C>T c.(610-612)ttC>ttT p.F204F NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACTTCTCCCCGAATGCTCTTC 0.443000 18 62 0 0 0.006122 0 0 PMPCA 23203 broad.mit.edu 37 9 139313549 139313549 + Silent SNP C C T rs148017285 byFrequency TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr9:139313549C>T ENST00000371717.3 + 11 1263 c.1254C>T c.(1252-1254)acC>acT p.T418T PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Silent_p.T287T NM_015160.1 NP_055975.1 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 418 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 14 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) TGGGCGGAACCGTGGACACGG 0.557000 24 27 0 0 0.003954 0 0 CNOT1 23019 broad.mit.edu 37 16 58576341 58576341 + Silent SNP T T C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr16:58576341T>C ENST00000317147.5 - 32 4898 c.4566A>G c.(4564-4566)agA>agG p.R1522R CNOT1_ENST00000569240.1_Silent_p.R1517R|CNOT1_ENST00000245138.4_Silent_p.R373R NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1522 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CAGTTGCTAATCTCTTGTCCA 0.378000 30 41 0 0 0.007291 0 0 TRAV20 28663 broad.mit.edu 37 14 22509134 22509134 + RNA SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr14:22509134G>A ENST00000390448.3 + 0 141 GAGAAGACCAGGTGACGCAGA 0.448000 4 16 0 0 0.000602 0 0 CACNA2D3 55799 broad.mit.edu 37 3 55052306 55052306 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:55052306G>A ENST00000474759.1 + 35 2997 c.2949G>A c.(2947-2949)aaG>aaA p.K983K CACNA2D3_ENST00000490478.1_Silent_p.K889K|CACNA2D3_ENST00000415676.2_Silent_p.K983K|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Silent_p.K983K NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 983 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) GCACCATCAAGGAGACTACAG 0.493000 3 11 0 0 0.004672 0 0 SERPINI2 5276 broad.mit.edu 37 3 167183320 167183320 + Missense_Mutation SNP T T A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:167183320T>A ENST00000476257.1 - 5 918 c.620A>T c.(619-621)aAt>aTt p.N207I SERPINI2_ENST00000471111.1_Missense_Mutation_p.N207I|SERPINI2_ENST00000264677.4_Missense_Mutation_p.N207I|SERPINI2_ENST00000461846.1_Missense_Mutation_p.N207I O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 207 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 AGTTGAACCATTTTTCTTAGT 0.368000 12 16 0 0 0.001855 0 0 TRAT1 50852 broad.mit.edu 37 3 108572518 108572518 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:108572518G>A ENST00000295756.6 + 6 585 c.355G>A c.(355-357)Ggg>Agg p.G119R TRAT1_ENST00000426646.1_Missense_Mutation_p.G82R NM_016388.2 NP_057472.2 Q6PIZ9 TRAT1_HUMAN T cell receptor associated transmembrane adaptor 1 119 cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity p.G119W(1) endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 CAGCGTTAAGGGGAAGCGTAG 0.418000 9 20 0 0 0.006214 0 0 WDR25 79446 broad.mit.edu 37 14 100934432 100934432 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr14:100934432G>A ENST00000335290.6 + 3 1123 c.897G>A c.(895-897)cgG>cgA p.R299R WDR25_ENST00000554998.1_Silent_p.R299R|WDR25_ENST00000542471.2_Silent_p.R42R|WDR25_ENST00000402312.3_Silent_p.R299R NM_024515.4 NP_078791.3 Q64LD2 WDR25_HUMAN WD repeat domain 25 299 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1) 20 Melanoma(154;0.212) GGGCCGCCCGGTGGGCTCCCT 0.627000 24 80 0 0 0.005443 0 0 RRP12 23223 broad.mit.edu 37 10 99126525 99126525 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr10:99126525C>T ENST00000370992.4 - 27 3300 c.3189G>A c.(3187-3189)gaG>gaA p.E1063E RRP12_ENST00000315563.6_Silent_p.E963E|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Silent_p.E1002E|RRP12_ENST00000536831.1_Silent_p.E781E NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 1063 Glu-rich. integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) GGGCGGGctcctcctcctcct 0.662000 29 66 0 0 0.008361 0 0 SLC8A3 6547 broad.mit.edu 37 14 70517766 70517766 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr14:70517766G>A ENST00000381269.2 - 6 2843 c.2090C>T c.(2089-2091)tCc>tTc p.S697F SLC8A3_ENST00000528359.1_Missense_Mutation_p.S695F|SLC8A3_ENST00000216568.7_Missense_Mutation_p.S68F|SLC8A3_ENST00000394330.2_Missense_Mutation_p.S54F|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S694F|SLC8A3_ENST00000356921.2_Missense_Mutation_p.S691F|SLC8A3_ENST00000357887.3_Missense_Mutation_p.S695F|SLC8A3_ENST00000533541.1_Missense_Mutation_p.S54F NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 697 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GTCCCTCCAGGAATGGGTCCC 0.522000 7 25 0 0 0.004482 0 0 SLC8A2 6543 broad.mit.edu 37 19 47941107 47941107 + Splice_Site SNP T T C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:47941107T>C ENST00000236877.6 - 7 2404 c.2010_splice c.e7+1 p.K670_splice SLC8A2_ENST00000542837.1_Splice_Site_p.K426_splice|SLC8A2_ENST00000539381.1_Splice_Site_p.K133_splice|SLC8A2_ENST00000601757.1_5'UTR NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 670 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) GAAAATCACCTTAAAATCATA 0.572000 14 51 0 0 0.003163 0 0 KIAA1024 23251 broad.mit.edu 37 15 79749811 79749811 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr15:79749811C>T ENST00000305428.3 + 2 1397 c.1322C>T c.(1321-1323)tCa>tTa p.S441L NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 441 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 AAAGAGATCTCATCCCCTGTT 0.478000 6 22 0 0 0.001168 0 0 GABRE 2564 broad.mit.edu 37 X 151123232 151123232 + Missense_Mutation SNP A A C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:151123232A>C ENST00000370328.3 - 9 1515 c.1462T>G c.(1462-1464)Ttc>Gtc p.F488V GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR NM_004961.3 NP_004952.2 P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 488 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GTCACTGGGAAAACAACTCTC 0.532000 6 28 0 0 0.001168 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147092827 147092827 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:147092827G>A ENST00000361727.3 + 10 2141 c.1625G>A c.(1624-1626)gGa>gAa p.G542E NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 542 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AGGAAGCCGGGAAGTTTCGCG 0.438000 HNSCC(39;0.1) 11 32 0 0 0.000978 0 0 CRYAA 1409 broad.mit.edu 37 21 44592263 44592263 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr21:44592263C>T ENST00000291554.2 + 3 487 c.395C>T c.(394-396)tCc>tTc p.S132F CRYAA_ENST00000398133.1_Missense_Mutation_p.S112F|CRYAA_ENST00000398132.1_Missense_Mutation_p.S95F|CRYAA_ENST00000482775.1_3'UTR NM_000394.2 NP_000385.1 P02489 CRYAA_HUMAN crystallin, alpha A 132 anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception cytoplasm|nucleus structural constituent of eye lens|unfolded protein binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 11 CTCTCTTGCTCCCTGTCTGCC 0.672000 11 27 0 0 0.000978 0 0 SCN8A 6334 broad.mit.edu 37 12 52159763 52159763 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr12:52159763C>T ENST00000354534.5 + 16 3031 c.2853C>T c.(2851-2853)gcC>gcT p.A951A SCN8A_ENST00000550891.1_Silent_p.A951A|SCN8A_ENST00000545061.1_Silent_p.A951A NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 951 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CAGGCCAGGCCATGTGCCTCA 0.448000 74 99 0 0 0.003610 0 0 TAF1A 9015 broad.mit.edu 37 1 222750981 222750981 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:222750981G>A ENST00000350027.4 - 5 563 c.410C>T c.(409-411)tCc>tTc p.S137F TAF1A_ENST00000352967.4_Missense_Mutation_p.S137F|TAF1A_ENST00000366890.1_Missense_Mutation_p.S23F|TAF1A_ENST00000543857.1_Missense_Mutation_p.S137F|TAF1A_ENST00000391882.1_Missense_Mutation_p.S23F|TAF1A_ENST00000465263.1_5'UTR NM_001201536.1 NP_001188465.1 Q15573 TAF1A_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa 137 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter RNA polymerase I transcription factor complex DNA binding kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1) 18 GBM - Glioblastoma multiforme(131;0.0186) ATGTTGTAAGGAGATCTGCAA 0.378000 118 245 0 0 0.003610 0 0 SLC8A2 6543 broad.mit.edu 37 19 47941108 47941108 + Missense_Mutation SNP T T C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:47941108T>C ENST00000236877.6 - 7 2403 c.2008A>G c.(2008-2010)Aag>Gag p.K670E SLC8A2_ENST00000542837.1_Missense_Mutation_p.K426E|SLC8A2_ENST00000539381.1_Missense_Mutation_p.K133E|SLC8A2_ENST00000601757.1_5'UTR NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 670 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) AAAATCACCTTAAAATCATAT 0.567000 15 52 0 0 0.004007 0 0 MROH5 389690 broad.mit.edu 37 8 142458032 142458032 + RNA SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr8:142458032C>T ENST00000430863.1 - 0 2874 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 ACGGCCGCCTCCTGGGCCTGC 0.647000 5 13 0 0 0.001168 0 0 MALAT1 378938 broad.mit.edu 37 11 65272116 65272116 + RNA SNP T T A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr11:65272116T>A ENST00000534336.1 + 0 6884 NR_002819.2 CTGAAGCCTTTAGTCTTTTCC 0.378000 12 13 0 0 0.001368 0 0 MYLK2 85366 broad.mit.edu 37 20 30408346 30408346 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr20:30408346C>T ENST00000375994.2 + 2 743 c.470C>T c.(469-471)tCc>tTc p.S157F MYLK2_ENST00000375985.4_Missense_Mutation_p.S157F Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 157 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GCCATCATCTCCAGGTGAATA 0.582000 5 24 0 0 0.001168 0 0 RPS6KA3 6197 broad.mit.edu 37 X 20212370 20212370 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:20212370C>T ENST00000379565.3 - 6 630 c.423G>A c.(421-423)ggG>ggA p.G141G RPS6KA3_ENST00000379548.4_Silent_p.G112G|RPS6KA3_ENST00000544447.1_Silent_p.G113G|RPS6KA3_ENST00000540702.1_Silent_p.G113G NM_004586.2 NP_004577.1 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 3 141 Protein kinase 1. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1) 41 GATACAACTTCCCTTCAGTTT 0.279000 5 14 0 0 0.001168 0 0 LRRC37B 114659 broad.mit.edu 37 17 30376191 30376191 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:30376191C>T ENST00000327564.7 + 10 2596 c.2535C>T c.(2533-2535)ttC>ttT p.F845F LRRC37B_ENST00000584368.1_Silent_p.F779F|LRRC37B_ENST00000543378.2_Silent_p.F736F|LRRC37B_ENST00000341671.7_Silent_p.F818F|LRRC37B_ENST00000394713.3_Silent_p.F767F Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 818 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) TGAGAAAGTTCATGTCTCATG 0.498000 24 22 0 0 0.006320 0 0 SOWAHB 345079 broad.mit.edu 37 4 77816807 77816807 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr4:77816807G>A ENST00000334306.2 - 1 2195 c.2196C>T c.(2194-2196)ttC>ttT p.F732F NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 732 GATAGACAGGGAAAATGGGCT 0.502000 38 128 0 0 0.006230 0 0 KLK6 5653 broad.mit.edu 37 19 51462556 51462556 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:51462556G>A ENST00000376851.3 - 6 1038 c.599C>T c.(598-600)cCg>cTg p.P200L CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Missense_Mutation_p.P200L|KLK6_ENST00000456750.2_Missense_Mutation_p.P93L|KLK6_ENST00000391808.1_Missense_Mutation_p.P93L|KLK6_ENST00000594641.1_Missense_Mutation_p.P200L|KLK6_ENST00000376853.4_Missense_Mutation_p.R72C NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 200 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity p.P200L(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) ACATACCAGCGGACCCCCAGA 0.527000 9 22 0 0 0.006214 0 0 SSX5 6758 broad.mit.edu 37 X 48053621 48053621 + Missense_Mutation SNP C C T rs139280367 TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:48053621C>T ENST00000311798.1 - 5 399 c.347G>A c.(346-348)cGg>cAg p.R116Q SSX5_ENST00000376923.1_Missense_Mutation_p.R75Q|SSX5_ENST00000347757.1_Missense_Mutation_p.R75Q NM_021015.3 NP_066295.3 O60225 SSX5_HUMAN synovial sarcoma, X breakpoint 5 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding p.R116L(1) endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1) 18 GTCTGCGACCCGTTTATTACG 0.488000 36 75 0 0 0.003214 0 0 SOX10 6663 broad.mit.edu 37 22 38369508 38369508 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr22:38369508C>T ENST00000396884.2 - 4 1677 c.1395G>A c.(1393-1395)cgG>cgA p.R465R POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Silent_p.R465R NM_006941.3 NP_008872.1 P56693 SOX10_HUMAN SRY (sex determining region Y)-box 10 465 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) CCCTTTAGGGCCGGGACAGTG 0.692000 4 0 0 0 0.000248 0 0 SLITRK3 22865 broad.mit.edu 37 3 164905895 164905895 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:164905895G>A ENST00000475390.1 - 2 3167 c.2724C>T c.(2722-2724)ccC>ccT p.P908P SLITRK3_ENST00000241274.3_Silent_p.P908P O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 908 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CCTTTAATTTGGGCACTGTTC 0.547000 HNSCC(40;0.11) 27 24 0 0 0.004656 0 0 PCLO 27445 broad.mit.edu 37 7 82581797 82581797 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:82581797G>A ENST00000423517.2 - 5 8809 c.8472C>T c.(8470-8472)ctC>ctT p.L2824L PCLO_ENST00000333891.8_Silent_p.L2824L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2755 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTGTAAGTTGGAGTGGTGTTG 0.468000 11 14 0 0 0.001368 0 0 TRAF2 7186 broad.mit.edu 37 9 139820223 139820223 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr9:139820223C>T ENST00000359662.3 + 11 1577 c.1532C>T c.(1531-1533)cCa>cTa p.P511L TRAF2_ENST00000536468.1_Missense_Mutation_p.P459L|TRAF2_ENST00000247668.2_Missense_Mutation_p.P459L Q12933 TRAF2_HUMAN TNF receptor-associated factor 2 459 activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.229) OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06) TTTCAGAGGCCAGTCAACGAC 0.557000 19 17 0 0 0.006122 0 0 MARCH10 162333 broad.mit.edu 37 17 60821840 60821840 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:60821840C>T ENST00000544856.2 - 6 807 c.429G>A c.(427-429)agG>agA p.R143R MARCH10_ENST00000311269.5_Silent_p.R144R|MARCH10_ENST00000583600.1_Silent_p.R182R|MARCH10_ENST00000456609.2_Silent_p.R144R Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 144 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 CTGTAAATCTCCTCAGGTTTG 0.468000 9 53 0 0 0.008291 0 0 PCDH11X 27328 broad.mit.edu 37 X 91090984 91090984 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:91090984C>T ENST00000373094.1 + 1 1326 c.481C>T c.(481-483)Cca>Tca p.P161S PCDH11X_ENST00000406881.1_Missense_Mutation_p.P161S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P161S|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P161S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P161S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P161S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P161S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P161S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P161S NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 161 Cadherin 2. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 ATATACTCTCCCAGCGGCTGT 0.353000 8 23 0 0 0.003080 0 0 CCDC125 202243 broad.mit.edu 37 5 68590651 68590651 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr5:68590651G>A ENST00000396496.2 - 9 1000 c.893C>T c.(892-894)aCt>aTt p.T298I CCDC125_ENST00000511257.1_Missense_Mutation_p.T173I|CCDC125_ENST00000383374.2_Intron|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.T298I Q86Z20 CC125_HUMAN coiled-coil domain containing 125 298 cytoplasm breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1) 19 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) CAGTTTCCGAGTGGATGCTGC 0.453000 40 117 0 0 0.003610 0 0 DSG1 1828 broad.mit.edu 37 18 28919979 28919979 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr18:28919979G>A ENST00000257192.4 + 11 1890 c.1678G>A c.(1678-1680)Gtc>Atc p.V560I NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 560 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) GGGATTCTTGGTCTTAGGATG 0.393000 6 19 0 0 0.001984 0 0 HHAT 55733 broad.mit.edu 37 1 210577938 210577938 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:210577938C>T ENST00000367010.1 + 6 826 c.599C>T c.(598-600)tCc>tTc p.S200F HHAT_ENST00000413764.2_Missense_Mutation_p.S200F|HHAT_ENST00000545781.1_Missense_Mutation_p.S137F|HHAT_ENST00000545154.1_Missense_Mutation_p.S201F|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000308852.6_Missense_Mutation_p.S155F|HHAT_ENST00000537898.1_Missense_Mutation_p.S135F|HHAT_ENST00000261458.3_Missense_Mutation_p.S200F|HHAT_ENST00000391905.3_Missense_Mutation_p.S200F NM_001170580.1 NP_001164051.1 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 200 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) ACCTCCTACTCCTTTCCCTGG 0.557000 6 49 0 0 0.001984 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140745253 140745253 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr5:140745253C>T ENST00000518069.1 + 1 1356 c.1356C>T c.(1354-1356)ttC>ttT p.F452F PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCCAATTTCCCTCAAGCCT 0.522000 40 72 0 0 0.002852 0 0 PIGR 5284 broad.mit.edu 37 1 207112655 207112655 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:207112655G>A ENST00000356495.4 - 3 380 c.197C>T c.(196-198)aCc>aTc p.T66I NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 66 Ig-like V-type 1. extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GGAGATGAGGGTTATGCAGCC 0.577000 19 42 0 0 0.002299 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136307632 136307632 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr9:136307632C>T ENST00000371929.3 + 17 2525 c.2081C>T c.(2080-2082)cCc>cTc p.P694L ADAMTS13_ENST00000355699.2_Missense_Mutation_p.P694L|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.P663L|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000536611.1_Intron NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 694 TSP type-1 2. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GTGCGTGGGCCCTGCTCGGTG 0.667000 30 31 0 0 0.003271 0 0 PARP3 10039 broad.mit.edu 37 3 51981903 51981903 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:51981903C>T ENST00000417220.2 + 11 1912 c.1424C>T c.(1423-1425)aCc>aTc p.T475I PARP3_ENST00000398755.3_Missense_Mutation_p.T482I|PARP3_ENST00000431474.1_Missense_Mutation_p.T475I|PARP3_ENST00000486510.1_3'UTR Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 475 PARP catalytic. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CGAGGCCACACCGAGCCTGGT 0.612000 15 72 0 0 0.004990 0 0 NLRX1 79671 broad.mit.edu 37 11 119050970 119050970 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr11:119050970C>T ENST00000409109.1 + 7 2827 c.2240C>T c.(2239-2241)cCt>cTt p.P747L NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000409991.1_Missense_Mutation_p.P747L|NLRX1_ENST00000409265.4_Missense_Mutation_p.P747L|NLRX1_ENST00000292199.2_Missense_Mutation_p.P747L|NLRX1_ENST00000525863.1_Missense_Mutation_p.P747L Q86UT6 NLRX1_HUMAN NLR family member X1 747 Required for the repression of MAVS- induced interferon signaling. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) ACACTCCTGCCTGTCTTCCTG 0.597000 11 13 0 0 0.000978 0 0 FAM57B 83723 broad.mit.edu 37 16 30037049 30037049 + Nonsense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr16:30037049G>A ENST00000380495.4 - 4 1269 c.538C>T c.(538-540)Cag>Tag p.Q180* FAM57B_ENST00000279389.4_Nonsense_Mutation_p.Q130*|FAM57B_ENST00000564806.1_Nonsense_Mutation_p.Q130* NM_031478.4 NP_113666.2 Q71RH2 FA57B_HUMAN family with sequence similarity 57, member B 180 TLC. endoplasmic reticulum|integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 TCACTCACCTGGATGAGGATC 0.592000 39 80 0 0 0.002852 0 0 CDK13 8621 broad.mit.edu 37 7 40134017 40134017 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr7:40134017G>A ENST00000181839.4 + 14 4582 c.3977G>A c.(3976-3978)gGa>gAa p.G1326E CDK13_ENST00000340829.5_Missense_Mutation_p.G1266E NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 1326 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 TATCAAGCAGGAGACACTTAC 0.493000 18 46 0 0 0.006122 0 0 AKAP4 8852 broad.mit.edu 37 X 49958661 49958661 + Missense_Mutation SNP C C T rs147442985 TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:49958661C>T ENST00000376056.2 - 5 826 c.676G>A c.(676-678)Gaa>Aaa p.E226K AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.E235K|AKAP4_ENST00000376064.3_Missense_Mutation_p.E226K|AKAP4_ENST00000376058.2_Intron Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 235 PKA-RI and PKA-RII subunit binding domain (By similarity). cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding p.E235K(1) NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) TCCTTGATTTCCTTATGGGCC 0.458000 17 36 0 0 0.006122 0 0 CLEC6A 93978 broad.mit.edu 37 12 8629986 8629986 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr12:8629986G>A ENST00000382073.3 + 6 742 c.556G>A c.(556-558)Gga>Aga p.G186R NM_001007033.1 NP_001007034.1 Q6EIG7 CLC6A_HUMAN C-type lectin domain family 6, member A 186 C-type lectin. defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane sugar binding breast(1)|large_intestine(2)|lung(7) 10 Lung SC(5;0.184) GAAACCTACAGGATGGGGCTG 0.383000 29 13 0 0 0.005443 0 0 RP1 6101 broad.mit.edu 37 8 55537893 55537893 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr8:55537893C>T ENST00000220676.1 + 4 1599 c.1451C>T c.(1450-1452)tCa>tTa p.S484L NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 484 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGACAGTTTTCATATAGTGAA 0.373000 5 27 0 0 0.000602 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481400 140481400 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr5:140481400C>T ENST00000231130.2 + 1 1167 c.1167C>T c.(1165-1167)ctC>ctT p.L389L AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 389 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGAACAATCTCCCCTTCTTCC 0.463000 10 26 0 0 0.006214 0 0 VAV1 7409 broad.mit.edu 37 19 6821821 6821821 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:6821821G>A ENST00000304076.2 + 4 494 c.400G>A c.(400-402)Gag>Aag p.E134K VAV1_ENST00000599806.1_Missense_Mutation_p.E79K|VAV1_ENST00000539284.1_Missense_Mutation_p.E69K|VAV1_ENST00000596764.1_Missense_Mutation_p.E134K|VAV1_ENST00000602142.1_Missense_Mutation_p.E134K NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 134 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 CACCGAGGAGGAGAGTGTAGG 0.657000 10 48 0 0 0.001368 0 0 PCDHB1 29930 broad.mit.edu 37 5 140432591 140432591 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr5:140432591G>A ENST00000306549.3 + 1 1613 c.1536G>A c.(1534-1536)ggG>ggA p.G512G NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 512 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGGCAATGGGAAGCTCTACG 0.428000 19 22 0 0 0.008871 0 0 SUCLG2 8801 broad.mit.edu 37 3 67559257 67559257 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr3:67559257G>A ENST00000307227.5 - 7 758 c.731C>T c.(730-732)cCc>cTc p.P244L SUCLG2_ENST00000492795.1_Missense_Mutation_p.P244L|SUCLG2_ENST00000493112.1_Missense_Mutation_p.P244L NM_003848.3 NP_003839.2 Q96I99 SUCB2_HUMAN succinate-CoA ligase, GDP-forming, beta subunit 244 ATP-grasp. succinyl-CoA metabolic process|tricarboxylic acid cycle mitochondrial matrix ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 10 Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121) BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153) Succinic acid(DB00139) TTCACCAAAGGGATTCACTTC 0.308000 6 14 0 0 0.001984 0 0 COL4A4 1286 broad.mit.edu 37 2 227958912 227958912 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr2:227958912C>T ENST00000396625.3 - 20 1505 c.1298G>A c.(1297-1299)gGa>gAa p.G433E COL4A4_ENST00000329662.7_Missense_Mutation_p.G433E NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 433 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCCTGGTTTTCCTGGAGCAGA 0.552000 10 14 0 0 0.008291 0 0 CCDC27 148870 broad.mit.edu 37 1 3669219 3669219 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:3669219G>A ENST00000294600.2 + 1 258 c.174G>A c.(172-174)tcG>tcA p.S58S NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 58 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) GGCACAGTTCGATGTCCAGCT 0.602000 10 53 0 0 0.006214 0 0 PPP2R4 5524 broad.mit.edu 37 9 131909680 131909680 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr9:131909680C>T ENST00000337738.1 + 11 1281 c.1014C>T c.(1012-1014)ttC>ttT p.F338F PPP2R4_ENST00000347048.4_Silent_p.F84F|PPP2R4_ENST00000419582.1_Silent_p.F41F|PPP2R4_ENST00000434095.1_Silent_p.F41F|PPP2R4_ENST00000355007.3_Silent_p.F261F|PPP2R4_ENST00000432651.1_Silent_p.F41F|PPP2R4_ENST00000414510.1_Silent_p.F41F|PPP2R4_ENST00000423100.1_Silent_p.F41F|PPP2R4_ENST00000358994.4_Silent_p.F303F|PPP2R4_ENST00000393370.2_Silent_p.F303F|PPP2R4_ENST00000357197.4_Silent_p.F274F|PPP2R4_ENST00000435132.1_Silent_p.F41F|PPP2R4_ENST00000348141.5_Silent_p.F309F NM_178001.2 NP_821068.1 Q15257 PTPA_HUMAN protein phosphatase 2A activator, regulatory subunit 4 338 ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Medulloblastoma(224;0.235) UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) TGGAGAAGTTCCCTGTGATCC 0.632000 10 23 0 0 0.000978 0 0 FBN3 84467 broad.mit.edu 37 19 8194143 8194143 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:8194143G>A ENST00000600128.1 - 17 2565 c.2151C>T c.(2149-2151)gcC>gcT p.A717A FBN3_ENST00000601739.1_Silent_p.A717A|FBN3_ENST00000270509.2_Silent_p.A717A Q75N90 FBN3_HUMAN fibrillin 3 717 EGF-like 8; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CCTTGCCTGAGGCACCTGCCT 0.637000 7 42 0 0 0.003080 0 0 SPG7 6687 broad.mit.edu 37 16 89614441 89614441 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr16:89614441C>T ENST00000268704.2 + 12 1598 c.1583C>T c.(1582-1584)gCt>gTt p.A528V NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 528 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) TGCAATGAGGCTGCGCTGCAC 0.637000 36 75 0 0 0.002222 0 0 OR6F1 343169 broad.mit.edu 37 1 247875253 247875253 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:247875253C>T ENST00000302084.2 - 1 852 c.805G>A c.(805-807)Gat>Aat p.D269N RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TTGATCAGATCCAAGGCATCT 0.488000 15 33 0 0 0.002450 0 0 CARD6 84674 broad.mit.edu 37 5 40854355 40854355 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr5:40854355C>T ENST00000254691.5 + 3 3120 c.2921C>T c.(2920-2922)tCc>tTc p.S974F CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 974 Pro-rich. apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 CAGACAAAATCCTGTCAGTCC 0.522000 20 137 0 0 0.001523 0 0 DAXX 1616 broad.mit.edu 37 6 33288198 33288198 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr6:33288198G>A ENST00000374542.5 - 4 1414 c.1210C>T c.(1210-1212)Cac>Tac p.H404Y DAXX_ENST00000414083.2_Missense_Mutation_p.H329Y|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Missense_Mutation_p.H404Y NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 404 Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 TCTGCAGAGTGGGAAGAGGTG 0.547000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 24 49 0 0 0.004656 0 0 VPS13B 157680 broad.mit.edu 37 8 100789096 100789096 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr8:100789096C>T ENST00000358544.2 + 41 7527 c.7416C>T c.(7414-7416)acC>acT p.T2472T VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.T2447T NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2472 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CCTGCTTTACCCCATGGTTTG 0.488000 7 26 0 0 0.001984 0 0 MMP28 79148 broad.mit.edu 37 17 34105972 34105972 + Missense_Mutation SNP G G C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr17:34105972G>C ENST00000250144.8 - 3 628 c.299C>G c.(298-300)gCg>gGg p.A100G NM_001032278.1 NP_001027449.1 Q9H239 MMP28_HUMAN matrix metallopeptidase 28 100 proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.A100V(1) endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5) 16 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AGCCCAGGCCGCATAACTGTT 0.567000 8 45 0 0 0.004482 0 0 SLC27A2 11001 broad.mit.edu 37 15 50518184 50518184 + Splice_Site SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr15:50518184G>A ENST00000267842.5 + 6 1399 c.e6-1 SLC27A2_ENST00000380902.4_Splice_Site|SLC27A2_ENST00000544960.1_Splice_Site NM_003645.3 NP_003636.2 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) AATCTTGCTAGAAAATCATAA 0.318000 9 12 0 0 0.004482 0 0 C15orf27 123591 broad.mit.edu 37 15 76494550 76494550 + Silent SNP G G A rs138438508 TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr15:76494550G>A ENST00000388942.3 + 10 1242 c.966G>A c.(964-966)acG>acA p.T322T NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 322 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 TAGAAGCCACGATGAAGGACG 0.532000 26 36 0 0 0.004656 0 0 VIPAS39 63894 broad.mit.edu 37 14 77901669 77901669 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr14:77901669G>A ENST00000553888.1 - 14 1490 c.980C>T c.(979-981)tCc>tTc p.S327F VIPAS39_ENST00000343765.2_Missense_Mutation_p.S327F|VIPAS39_ENST00000557658.1_Missense_Mutation_p.S327F|VIPAS39_ENST00000556412.1_Missense_Mutation_p.S353F|VIPAS39_ENST00000448935.2_Missense_Mutation_p.S278F|VIPAS39_ENST00000327028.4_Missense_Mutation_p.S314F NM_001193314.1|NM_001193317.1|NM_022067.3 NP_001180243.1|NP_001180246.1|NP_071350.2 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog GTTGAGGATGGAGGCTTTGCG 0.463000 9 52 0 0 0.004482 0 0 SLC2A11 66035 broad.mit.edu 37 22 24217412 24217412 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr22:24217412C>T ENST00000345044.6 + 4 658 c.390C>T c.(388-390)ctC>ctT p.L130L AP000350.10_ENST00000433835.3_Silent_p.L95L|SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000405847.1_Silent_p.L130L|SLC2A11_ENST00000398356.2_Silent_p.L137L|SLC2A11_ENST00000316185.8_Silent_p.L133L Q9BYW1 GTR11_HUMAN solute carrier family 2 (facilitated glucose transporter), member 11 130 integral to membrane|plasma membrane sugar transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 12 GAAGACTGCTCGTGGGAGTCA 0.448000 18 34 0 0 0.003330 0 0 MEP1A 4224 broad.mit.edu 37 6 46800981 46800981 + Missense_Mutation SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr6:46800981C>T ENST00000230588.4 + 11 1324 c.1315C>T c.(1315-1317)Cgg>Tgg p.R439W NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 439 MATH. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) CTGGACAGTCCGGAATTTCTC 0.512000 23 19 0 0 0.004656 0 0 ADAM33 80332 broad.mit.edu 37 20 3655171 3655171 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr20:3655171G>A ENST00000356518.2 - 6 821 c.580C>T c.(580-582)Cct>Tct p.P194S ADAM33_ENST00000350009.2_Missense_Mutation_p.P194S|ADAM33_ENST00000379861.4_Missense_Mutation_p.P194S NM_025220.2 NP_079496.1 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 194 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 GGACCACCAGGAAGGCTGGTC 0.572000 17 59 0 0 0.008871 0 0 STAB2 55576 broad.mit.edu 37 12 104049234 104049234 + Splice_Site SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr12:104049234G>A ENST00000388887.2 + 15 1813 c.1608_splice c.e15-1 p.E537_splice RP11-341G23.2_ENST00000551905.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 537 FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CCAAATGCAGGAAACCAATTT 0.378000 17 31 0 0 0.004007 0 0 KIAA1210 57481 broad.mit.edu 37 X 118221776 118221776 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chrX:118221776G>A ENST00000402510.2 - 11 3416 c.3417C>T c.(3415-3417)ttC>ttT p.F1139F NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1139 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CAGCCCGCTCGAAATTTGAGG 0.473000 22 37 0 0 0.001523 0 0 TMC2 117532 broad.mit.edu 37 20 2542553 2542553 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr20:2542553G>A ENST00000358864.1 + 4 466 c.451G>A c.(451-453)Gag>Aag p.E151K NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 151 Arg/Asp/Glu/Lys-rich (highly charged). integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 CCTGTCCGAGGAGGAACTGGC 0.607000 28 56 0 0 0.002096 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140724647 140724647 + Silent SNP C C T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr5:140724647C>T ENST00000253812.6 + 1 1047 c.1047C>T c.(1045-1047)atC>atT p.I349I PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAATTACAATCACGTCTCTCA 0.463000 12 53 0 0 0.001368 0 0 MUC16 94025 broad.mit.edu 37 19 9074139 9074139 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr19:9074139G>A ENST00000397910.4 - 3 13510 c.13307C>T c.(13306-13308)cCc>cTc p.P4436L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4438 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CACATCCTTGGGACCTTTGCT 0.498000 16 41 0 0 0.003163 0 0 CLK2 1196 broad.mit.edu 37 1 155236673 155236674 + Frame_Shift_Ins INS - - C TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr1:155236673_155236674insC ENST00000368361.4 - 7 999_1000 c.684_685insG c.(682-687)catgttfs p.HV228fs CLK2_ENST00000355560.4_Frame_Shift_Ins_p.HV226fs|CLK2_ENST00000536801.1_Frame_Shift_Ins_p.HV228fs|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Frame_Shift_Ins_p.HV227fs P49760 CLK2_HUMAN CDC-like kinase 2 228 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CAGTCAAACATCTGGACACAGA 0.505 Other conserved DNA damage response genes 11 25 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110467060 110467061 + Frame_Shift_Ins INS - - A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr8:110467060_110467061insA ENST00000378402.5 + 45 6957_6958 c.6853_6854insA c.(6853-6855)gggfs p.G2285fs NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2285 G8 1. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GGCTGTGCGGGAGGGAATCCTG 0.515 HNSCC(38;0.096) 4 4 --- --- --- --- KRT19P2 160313 broad.mit.edu 37 12 95228730 95228730 + RNA DEL A A - TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr12:95228730delA ENST00000405395.2 + 0 501 NR_036685.1 TGGCAGAAACAGAGGCATGCT 0.572 2 4 --- --- --- --- CMTM4 146223 broad.mit.edu 37 16 66656033 66656034 + Frame_Shift_Ins INS - - T TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22edd867-dcd6-42b5-92bb-025ceb84b106 268a11d4-51a7-491c-9060-7dc559dcdb9e g.chr16:66656033_66656034insT ENST00000330687.4 - 4 735_736 c.554_555insA c.(553-555)agafs p.R185fs CMTM4_ENST00000394106.2_Frame_Shift_Ins_p.R185fs|CMTM4_ENST00000563952.1_Frame_Shift_Ins_p.R156fs NM_178818.2|NM_181521.2 NP_848933.1|NP_852662.1 Q8IZR5 CKLF4_HUMAN CKLF-like MARVEL transmembrane domain containing 4 185 chemotaxis extracellular space|integral to membrane cytokine activity cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214) GGATGTAGTCATTGGTGCTCTG 0.579 8 11 --- --- --- ---