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 CDK12 51755 broad.mit.edu 37 17 37619371 37619371 + Splice_Site SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr17:37619371G>A ENST00000447079.4 + 1 1079 c.e1+1 CDK12_ENST00000430627.2_Splice_Site NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 CACTCCCCAGGTGAGCTATTT 0.552000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 18 43 0 0 1 0 0 MAML1 9794 broad.mit.edu 37 5 179193305 179193305 + Nonsense_Mutation SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr5:179193305C>T ENST00000292599.3 + 2 1557 c.1294C>T c.(1294-1296)Cag>Tag p.Q432* MAML1_ENST00000503050.1_3'UTR NM_014757.4 NP_055572.1 Q92585 MAML1_HUMAN mastermind-like 1 (Drosophila) 432 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CACATGGCAGCAGACGGGGCC 0.612000 5 278 0 0 1 0 0 CCDC102A 92922 broad.mit.edu 37 16 57550233 57550233 + Missense_Mutation SNP T T C TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr16:57550233T>C ENST00000258214.2 - 7 1637 c.1391A>G c.(1390-1392)aAg>aGg p.K464R NM_033212.3 NP_149989.2 Q96A19 C102A_HUMAN coiled-coil domain containing 102A 464 endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 CAGCTCCTTCTTGAGCTCCTC 0.667000 3 25 0 0 1 0 0 MMP19 4327 broad.mit.edu 37 12 56232402 56232402 + Missense_Mutation SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr12:56232402C>T ENST00000322569.4 - 6 974 c.883G>A c.(883-885)Gcc>Acc p.A295T MMP19_ENST00000548629.1_Missense_Mutation_p.A272T|MMP19_ENST00000409200.3_Missense_Mutation_p.A213T NM_002429.4 NP_002420.1 Q99542 MMP19_HUMAN matrix metallopeptidase 19 295 Hemopexin-like 1. angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26 AGCATCATGGCATCCAGTTCA 0.607000 40 36 0 0 1 0 0 ASPH 444 broad.mit.edu 37 8 62489335 62489335 + Missense_Mutation SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr8:62489335G>A ENST00000541428.1 - 16 1218 c.1058C>T c.(1057-1059)gCg>gTg p.A353V ASPH_ENST00000379454.4_Missense_Mutation_p.A382V NM_001164750.1 NP_001158222.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 382 muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) GAATACCTGCGCCTTCCCATA 0.378000 37 62 0 0 1 0 0 SLC36A3 285641 broad.mit.edu 37 5 150667007 150667007 + Missense_Mutation SNP C C T rs142449284 byFrequency TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr5:150667007C>T ENST00000335230.3 - 6 919 c.508G>A c.(508-510)Gtg>Atg p.V170M SLC36A3_ENST00000377713.3_Missense_Mutation_p.V211M NM_181774.3 NP_861439.3 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 170 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) TTGGAGGTCACGTGGGCTTTT 0.468000 5 45 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197032024 197032024 + Silent SNP A A G TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr1:197032024A>G ENST00000367412.1 - 2 271 c.228T>C c.(226-228)tgT>tgC p.C76C NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 76 Sushi 1. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 CTTCTGTTGTACACGTGGTTT 0.378000 27 136 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 4 44 0.150653 0.15276 1 1 0 TRBV5-7 0 broad.mit.edu 37 7 142111685 142111685 + RNA SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr7:142111685G>A ENST00000390378.1 - 0 50 CGTCCACTGGGCCTGTGGGAA 0.552000 7 302 0 0 1 0 0 USH1G 124590 broad.mit.edu 37 17 72915939 72915939 + Missense_Mutation SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr17:72915939C>T ENST00000319642.1 - 2 1174 c.992G>A c.(991-993)cGc>cAc p.R331H NM_173477.2 NP_775748.2 Q495M9 USH1G_HUMAN Usher syndrome 1G (autosomal recessive) 331 equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton HN1/USH1G(2) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3) 14 all_lung(278;0.172)|Lung NSC(278;0.207) CCCATCCTCGCGGCCCAGTCC 0.677000 6 339 0 0 1 0 0 TGFB2 7042 broad.mit.edu 37 1 218520075 218520075 + Missense_Mutation SNP T T C TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr1:218520075T>C ENST00000366929.4 + 1 499 c.32T>C c.(31-33)aTc>aCc p.I11T TGFB2_ENST00000366930.4_Missense_Mutation_p.I11T NM_001135599.2 NP_001129071.1 P61812 TGFB2_HUMAN transforming growth factor, beta 2 11 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) GCTTTTCTGATCCTGCATCTG 0.443000 9 93 0 0 1 0 0 LCE1A 353131 broad.mit.edu 37 1 152800112 152800112 + Missense_Mutation SNP G G T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr1:152800112G>T ENST00000335123.2 + 1 164 c.164G>T c.(163-165)aGc>aTc p.S55I NM_178348.2 NP_848125.1 Q5T7P2 LCE1A_HUMAN late cornified envelope 1A 55 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 8 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGTGGCTCCAGCTCTGGGGGC 0.667000 12 80 1.15088e-07 1.35673e-07 1 1 0 FAM83C 128876 broad.mit.edu 37 20 33875239 33875239 + Missense_Mutation SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr20:33875239C>T ENST00000374408.3 - 4 1439 c.1343G>A c.(1342-1344)cGc>cAc p.R448H NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 448 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) GGGCCGGGAGCGAGGAAGCAG 0.647000 14 44 0 0 1 0 0 IGHV3OR16-9 0 broad.mit.edu 37 16 32077613 32077613 + RNA SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr16:32077613G>A ENST00000354689.6 + 0 228 RP11-1166P10.6_ENST00000566806.1_RNA ACAACGCCAAGAACTCACTGT 0.507000 70 898 0 0 1 0 0 CHST11 50515 broad.mit.edu 37 12 105150791 105150791 + Missense_Mutation SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr12:105150791G>A ENST00000303694.5 + 3 708 c.269G>A c.(268-270)cGa>cAa p.R90Q CHST11_ENST00000549260.1_Missense_Mutation_p.R85Q NM_018413.5 NP_060883.1 Q9NPF2 CHSTB_HUMAN carbohydrate (chondroitin 4) sulfotransferase 11 90 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1) 18 GACACGTGCCGAGCCAACAGC 0.582000 3 22 0 0 1 0 0 SEC16B 89866 broad.mit.edu 37 1 177909845 177909845 + Missense_Mutation SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr1:177909845G>A ENST00000308284.6 - 17 2116 c.2027C>T c.(2026-2028)gCa>gTa p.A676V RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 676 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 CAGTTTCTCTGCTAGCTGTGC 0.517000 6 27 0 0 1 0 0 CCDC102B 79839 broad.mit.edu 37 18 66678240 66678240 + Missense_Mutation SNP A A G TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr18:66678240A>G ENST00000360242.5 + 7 1450 c.1333A>G c.(1333-1335)Act>Gct p.T445A CCDC102B_ENST00000584156.1_Missense_Mutation_p.T445A|CCDC102B_ENST00000319445.6_Missense_Mutation_p.T445A NM_024781.2 NP_079057.2 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 445 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) TGCAGAACTGACTCATGCAAA 0.343000 9 42 0 0 1 0 0 CCBL1 883 broad.mit.edu 37 9 131600404 131600404 + Nonsense_Mutation SNP C C A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr9:131600404C>A ENST00000436267.2 - 7 795 c.646G>T c.(646-648)Gaa>Taa p.E216* CCBL1_ENST00000320665.6_Nonsense_Mutation_p.E72*|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Nonsense_Mutation_p.E122* Q16773 KAT1_HUMAN cysteine conjugate-beta lyase, cytoplasmic 122 kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process cytosol|nucleus 1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114) AAAAAGGGTTCGATGATGATG 0.532000 17 303 2.23348e-06 2.53012e-06 1 1 0 P4HA1 5033 broad.mit.edu 37 10 74804782 74804782 + Missense_Mutation SNP T T C TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr10:74804782T>C ENST00000412021.2 - 10 1438 c.1105A>G c.(1105-1107)Ata>Gta p.I369V P4HA1_ENST00000307116.2_Missense_Mutation_p.I369V|P4HA1_ENST00000440381.1_Intron|P4HA1_ENST00000394890.2_Missense_Mutation_p.I369V|P4HA1_ENST00000373008.2_Intron|P4HA1_ENST00000263556.3_Intron NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 369 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TCTCCTGTTATTGGGTTTGAA 0.388000 9 53 0 0 1 0 0 VPS18 57617 broad.mit.edu 37 15 41192240 41192240 + Silent SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr15:41192240C>T ENST00000220509.5 + 4 1563 c.1224C>T c.(1222-1224)ttC>ttT p.F408F VPS18_ENST00000558474.1_Intron NM_020857.2 NP_065908.1 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 homolog (S. cerevisiae) 408 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) TGAACCGCTTCGATCTGGCCA 0.632000 7 106 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34038327 34038327 + Missense_Mutation SNP C C A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr21:34038327C>A ENST00000382499.2 - 17 2187 c.2188G>T c.(2188-2190)Gct>Tct p.A730S SYNJ1_ENST00000322229.7_Missense_Mutation_p.A691S|SYNJ1_ENST00000433931.2_Missense_Mutation_p.A730S|SYNJ1_ENST00000382491.3_Missense_Mutation_p.A686S|SYNJ1_ENST00000357345.3_Missense_Mutation_p.A691S NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 691 Catalytic (Potential). inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 TGCCCTGCAGCAAAGTGGCTA 0.428000 6 36 3.59834e-05 4.01353e-05 1 1 0 DNAH3 55567 broad.mit.edu 37 16 20975100 20975100 + Missense_Mutation SNP T T C TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr16:20975100T>C ENST00000261383.3 - 53 10105 c.10106A>G c.(10105-10107)gAc>gGc p.D3369G DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3369 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) GAGTAGCTTGTCCTTCTCAAA 0.488000 5 121 0 0 1 0 0 DCAF13 25879 broad.mit.edu 37 8 104442877 104442877 + Missense_Mutation SNP T T C TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr8:104442877T>C ENST00000297579.5 + 6 1395 c.1118T>C c.(1117-1119)aTa>aCa p.I373T DCAF13_ENST00000521999.1_3'UTR NM_015420.6 NP_056235.4 Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 221 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 GACAGGAATATAGTACTGTAC 0.368000 66 113 0 0 1 0 0 ZBTB22 0 broad.mit.edu 37 6 33283001 33283001 + Missense_Mutation SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr6:33283001G>A ENST00000431845.2 - 2 1844 c.1693C>T c.(1693-1695)Cgc>Tgc p.R565C ZBTB22_ENST00000418724.1_Missense_Mutation_p.R565C NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 CGGTGCCGGCGCTCACAGTGT 0.672000 8 63 0 0 1 0 0 ACPL2 92370 broad.mit.edu 37 3 141011306 141011306 + Silent SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr3:141011306C>T ENST00000508812.1 + 5 2582 c.675C>T c.(673-675)caC>caT p.H225H ACPL2_ENST00000393010.2_Silent_p.H234H|ACPL2_ENST00000504264.1_Silent_p.H217H|ACPL2_ENST00000502783.1_Silent_p.H196H|ACPL2_ENST00000286353.4_Silent_p.H234H|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393007.1_Silent_p.H218H Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 234 extracellular region acid phosphatase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 ATTTCAGGCACCAGCCAAGTG 0.488000 5 60 0 0 1 0 0 SYVN1 84447 broad.mit.edu 37 11 64897328 64897328 + Missense_Mutation SNP G G C TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr11:64897328G>C ENST00000526060.1 - 14 1657 c.1465C>G c.(1465-1467)Cga>Gga p.R489G SYVN1_ENST00000307289.6_Missense_Mutation_p.R438G|SYVN1_ENST00000294256.8_Missense_Mutation_p.R489G|SYVN1_ENST00000377190.3_Missense_Mutation_p.R490G Q86TM6 SYVN1_HUMAN synovial apoptosis inhibitor 1, synoviolin 490 ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 TCCAGAGCTCGTAGCTCCTCT 0.662000 16 37 0 0 1 0 0 NPPA 4878 broad.mit.edu 37 1 11907408 11907408 + Missense_Mutation SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr1:11907408C>T ENST00000376480.3 - 2 310 c.212G>A c.(211-213)gGg>gAg p.G71E NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.G21E|NPPA-AS1_ENST00000446542.1_RNA NM_006172.3 NP_006163.1 P01160 ANF_HUMAN natriuretic peptide A 71 cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size extracellular region hormone activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAGAGCAGCCCCCGCTTCTTC 0.602000 7 75 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245852063 245852063 + Silent SNP C C A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr1:245852063C>A ENST00000366518.4 + 9 4739 c.4635C>A c.(4633-4635)ggC>ggA p.G1545G KIF26B_ENST00000407071.2_Silent_p.G1926G Q2KJY2 KI26B_HUMAN kinesin family member 26B 1926 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GCTCCGTGGGCGGCAGGTGCC 0.716000 10 21 0.0581538 0.060664 1 1 0 PRAMEF1 65121 broad.mit.edu 37 1 12855601 12855601 + Missense_Mutation SNP C C A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr1:12855601C>A ENST00000332296.7 + 4 984 c.881C>A c.(880-882)cCc>cAc p.P294H PRAMEF1_ENST00000400814.3_Missense_Mutation_p.P49H NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 294 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTCCAGAACCCCTTGGAGAAC 0.463000 11 138 3.07112e-06 3.45203e-06 1 1 0 OR10Z1 128368 broad.mit.edu 37 1 158576638 158576638 + Missense_Mutation SNP A A G TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr1:158576638A>G ENST00000361284.1 + 1 410 c.410A>G c.(409-411)aAt>aGt p.N137S NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) AGCCACATGAATCCTACCCTC 0.512000 29 64 0 0 1 0 0 HOXB8 3218 broad.mit.edu 37 17 46692051 46692051 + Missense_Mutation SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr17:46692051C>T ENST00000239144.4 - 1 250 c.16G>A c.(16-18)Gtc>Atc p.V6I HOXB8_ENST00000576562.1_Missense_Mutation_p.V6I|HOXB7_ENST00000567101.1_Intron NM_024016.3 NP_076921.1 P17481 HXB8_HUMAN homeobox B8 6 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(8)|urinary_tract(2) 11 AGTGAGTTGACGAAATAAGAG 0.592000 6 22 0 0 1 0 0 AQP6 363 broad.mit.edu 37 12 50369276 50369276 + Missense_Mutation SNP C C G TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr12:50369276C>G ENST00000315520.5 + 4 1008 c.671C>G c.(670-672)gCc>gGc p.A224G AQP6_ENST00000551733.1_Missense_Mutation_p.A50G NM_001652.3 NP_001643.2 Q13520 AQP6_HUMAN aquaporin 6, kidney specific 224 excretion|odontogenesis integral to plasma membrane|transport vesicle membrane anion channel activity|water channel activity endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2) 13 CTGATGGGAGCCCTCCTGGCC 0.637000 7 216 0 0 1 0 0 CBLN2 147381 broad.mit.edu 37 18 70209171 70209171 + Silent SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr18:70209171G>A ENST00000269503.4 - 3 998 c.225C>T c.(223-225)gaC>gaT p.D75D CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000585159.1_Silent_p.D75D|CBLN2_ENST00000584764.1_Intron NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 75 integral to membrane endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) TGACGGCGCCGTCCGCCGACG 0.706000 14 13 0 0 1 0 0 KLKB1 3818 broad.mit.edu 37 4 187157946 187157946 + Missense_Mutation SNP G G T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr4:187157946G>T ENST00000264690.6 + 5 527 c.340G>T c.(340-342)Gac>Tac p.D114Y KLKB1_ENST00000513864.1_Missense_Mutation_p.D114Y NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 114 Apple 2. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) TTGCCATCGAGACATTTATAA 0.373000 31 41 6.04164e-23 7.55205e-23 1 1 0 TDRKH 11022 broad.mit.edu 37 1 151748667 151748667 + Silent SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr1:151748667C>T ENST00000368822.1 - 8 1755 c.1122G>A c.(1120-1122)cgG>cgA p.R374R TDRKH_ENST00000458431.2_Silent_p.R374R|TDRKH_ENST00000368825.3_Silent_p.R329R|TDRKH_ENST00000368827.6_Silent_p.R374R|TDRKH_ENST00000440583.2_Silent_p.R150R|TDRKH_ENST00000368823.1_Silent_p.R370R|TDRKH_ENST00000368824.3_Silent_p.R374R Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing 374 Tudor. RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGCCGAGGACCCGGGCTCGAT 0.507000 7 76 0 0 1 0 0 FAM5C 0 broad.mit.edu 37 1 190129985 190129985 + Missense_Mutation SNP T T A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr1:190129985T>A ENST00000367462.3 - 7 1228 c.997A>T c.(997-999)Aat>Tat p.N333Y FAM5C_ENST00000534846.1_Missense_Mutation_p.N231Y|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 333 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AGGAAATAATTCATAGGTAGC 0.299000 17 44 0 0 1 0 0 C18orf8 29919 broad.mit.edu 37 18 21110078 21110078 + Silent SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr18:21110078C>T ENST00000269221.3 + 17 1691 c.1581C>T c.(1579-1581)ctC>ctT p.L527L C18orf8_ENST00000590868.1_Silent_p.L479L|C18orf8_ENST00000591367.1_3'UTR NM_013326.3 NP_037458.3 Q96DM3 MIC1_HUMAN chromosome 18 open reading frame 8 527 Mic1. endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 21 all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127) ACCACGTCCTCAGCGACTCCA 0.403000 37 242 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160784292 160784292 + Silent SNP C C G TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr1:160784292C>G ENST00000263285.5 + 4 843 c.813C>G c.(811-813)ctC>ctG p.L271L LY9_ENST00000341032.4_Silent_p.L271L|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Silent_p.L231L|LY9_ENST00000368040.1_5'UTR NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 271 Ig-like V-type 2. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CACTTGCACTCCCAGCCTGCC 0.547000 28 74 0 0 1 0 0 XPNPEP3 63929 broad.mit.edu 37 22 41282353 41282353 + Missense_Mutation SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr22:41282353C>T ENST00000357137.4 + 4 710 c.626C>T c.(625-627)cCc>cTc p.P209L XPNPEP3_ENST00000414396.1_Missense_Mutation_p.P209L|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.P186L|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.P209L NM_022098.3 NP_071381.1 Q9NQH7 XPP3_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 3, putative 209 cellular process mitochondrion aminopeptidase activity|manganese ion binding|metallopeptidase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 17 TGGATGAGGCCCTCACATGCA 0.458000 37 56 0 0 1 0 0 KRT23 25984 broad.mit.edu 37 17 39092708 39092708 + Missense_Mutation SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr17:39092708G>A ENST00000209718.3 - 2 572 c.148C>T c.(148-150)Cgg>Tgg p.R50W KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA NM_015515.3 NP_056330.3 Q9C075 K1C23_HUMAN keratin 23 (histone deacetylase inducible) 50 Head. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) GGGCAGCTCCGCGTGGTGAAG 0.687000 7 147 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 4 58 0 0 1 0 0 EMX1 2016 broad.mit.edu 37 2 73145426 73145426 + Missense_Mutation SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr2:73145426G>A ENST00000258106.6 + 1 823 c.445G>A c.(445-447)Ggc>Agc p.G149S EMX1_ENST00000394111.5_Intron NM_004097.2 NP_004088.2 Q04741 EMX1_HUMAN empty spiracles homeobox 1 116 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(2)|lung(3) 6 CTCCTTCTTCGGCGCCCAGCA 0.706000 5 41 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56202227 56202227 + Missense_Mutation SNP A A T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr18:56202227A>T ENST00000361673.3 - 5 5405 c.5192T>A c.(5191-5193)aTt>aAt p.I1731N NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1731 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CCTGGACAAAATTTTCTTCTT 0.488000 19 108 0 0 1 0 0 OR4S1 256148 broad.mit.edu 37 11 48328565 48328565 + Missense_Mutation SNP C C A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr11:48328565C>A ENST00000319988.1 + 1 791 c.791C>A c.(790-792)gCt>gAt p.A264D NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 ACCACCCTGGCTGCTGACAAA 0.478000 6 167 0.0381472 0.0400822 1 1 0 NOTCH1 4851 broad.mit.edu 37 9 139391807 139391807 + Silent SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr9:139391807C>T ENST00000277541.6 - 34 6459 c.6384G>A c.(6382-6384)ccG>ccA p.P2128P NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 2128 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TGCCCCCCAGCGGGGCTCCGT 0.706000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 4 61 0 0 1 0 0 VAMP7 6845 broad.mit.edu 37 X 155119202 155119202 + Missense_Mutation SNP T T C TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chrX:155119202T>C ENST00000286448.6 + 2 238 c.73T>C c.(73-75)Ttc>Ctc p.F25L VAMP7_ENST00000262640.6_Missense_Mutation_p.F25L|VAMP7_ENST00000460621.1_Missense_Mutation_p.F25L|VAMP7_ENST00000479687.1_3'UTR NM_001145149.2|NM_005638.5 NP_001138621.1|NP_005629.1 P51809 VAMP7_HUMAN vesicle-associated membrane protein 7 25 Longin. calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane protein binding large_intestine(1)|lung(8) 9 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGGAGGAAACTTCCTGGAGGT 0.453000 15 69 0 0 1 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179564645 179564645 + Missense_Mutation SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr5:179564645C>T ENST00000393371.2 - 2 541 c.245G>A c.(244-246)cGg>cAg p.R82Q RASGEF1C_ENST00000361132.4_Missense_Mutation_p.R82Q Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 82 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTGGCAGACCCGGGCCAGGAG 0.637000 7 48 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143074327 143074327 + Silent SNP A A G TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr6:143074327A>G ENST00000367603.2 - 10 8000 c.7258T>C c.(7258-7260)Ttg>Ctg p.L2420L RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367604.1_Silent_p.L2420L|HIVEP2_ENST00000012134.2_Silent_p.L2420L NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 2420 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TGAAAGTCCAACTGCTTGTCA 0.428000 10 246 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117432774 117432774 + Missense_Mutation SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr7:117432774C>T ENST00000160373.3 - 4 567 c.476G>A c.(475-477)cGc>cAc p.R159H CTTNBP2_ENST00000487820.1_5'UTR NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 159 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TTCCTCAAGGCGGGCAGCCAG 0.507000 8 110 0 0 1 0 0 OR52E4 390081 broad.mit.edu 37 11 5906107 5906107 + Missense_Mutation SNP G G T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr11:5906107G>T ENST00000316987.2 + 1 607 c.585G>T c.(583-585)aaG>aaT p.K195N NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACCCATTAAGATCAACATAA 0.453000 13 161 2.27111e-07 2.65573e-07 1 1 0 IL27RA 9466 broad.mit.edu 37 19 14150414 14150414 + Missense_Mutation SNP G G C TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr19:14150414G>C ENST00000263379.2 + 3 438 c.313G>C c.(313-315)Gtc>Ctc p.V105L NM_004843.3 NP_004834.1 Q6UWB1 I27RA_HUMAN interleukin 27 receptor, alpha 105 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 CAAACTCCTTGTCTGGGGCAC 0.607000 29 91 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10265435 10265435 + Splice_Site SNP C C A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr17:10265435C>A ENST00000418404.3 - 4 668 c.505_splice c.e4+1 p.D169_splice MYH13_ENST00000252172.4_Splice_Site_p.D169_splice|MYH13_ENST00000570743.1_Splice_Site_p.D169_splice Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 169 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 AATTACTCACCAGTCAGCATG 0.468000 8 188 1.58986e-06 1.82961e-06 1 1 0 CAMK4 814 broad.mit.edu 37 5 110814199 110814199 + Missense_Mutation SNP G G T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr5:110814199G>T ENST00000282356.4 + 9 1220 c.822G>T c.(820-822)aaG>aaT p.K274N CAMK4_ENST00000512453.1_Missense_Mutation_p.K274N NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 274 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) TAAATGCCAAGGACTTGGTAA 0.303000 9 35 0.000274275 0.000301287 1 1 0 CNTROB 116840 broad.mit.edu 37 17 7842864 7842864 + Nonsense_Mutation SNP G G T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr17:7842864G>T ENST00000380262.3 + 8 1886 c.961G>T c.(961-963)Gag>Tag p.E321* CNTROB_ENST00000380255.3_Nonsense_Mutation_p.E321*|CNTROB_ENST00000563694.1_Nonsense_Mutation_p.E321*|CNTROB_ENST00000565740.1_Nonsense_Mutation_p.E321* NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 321 centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) TCTGAGGTTGGAGGCAGAACA 0.582000 24 110 1.42536e-11 1.73678e-11 1 1 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 4 50 0 0 1 0 0 CRLF1 9244 broad.mit.edu 37 19 18709695 18709695 + Silent SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr19:18709695G>A ENST00000392386.3 - 3 607 c.414C>T c.(412-414)ccC>ccT p.P138P NM_004750.4 NP_004741.1 O75462 CRLF1_HUMAN cytokine receptor-like factor 1 138 Fibronectin type-III 1. negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 9 TGATGTTGACGGGTTTCTCTG 0.632000 15 78 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105417976 105417976 + Missense_Mutation SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr14:105417976G>A ENST00000333244.5 - 7 3931 c.3812C>T c.(3811-3813)cCc>cTc p.P1271L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1271 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) GTCCAGCTTGGGGCCCCTGAC 0.622000 6 220 0 0 1 0 0 PRF1 5551 broad.mit.edu 37 10 72358721 72358721 + Silent SNP G G A rs150053969 TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr10:72358721G>A ENST00000441259.1 - 3 916 c.756C>T c.(754-756)aaC>aaT p.N252N PRF1_ENST00000373209.2_Silent_p.N252N NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 252 MACPF. N -> S (in FHL2; dbSNP:rs28933375). apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 CCTCCACCTCGTTGTCCGTGA 0.637000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 11 69 0 0 1 0 0 KMO 8564 broad.mit.edu 37 1 241713007 241713007 + Missense_Mutation SNP G G T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr1:241713007G>T ENST00000366559.4 + 3 466 c.155G>T c.(154-156)aGa>aTa p.R52I KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366558.3_Missense_Mutation_p.R52I|KMO_ENST00000366557.4_Missense_Mutation_p.R52I NM_003679.4 NP_003670.2 O15229 KMO_HUMAN kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) 52 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity p.R52I(1) NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) ACACGTGGAAGAAGCATTAAC 0.423000 25 92 1.33986e-20 1.66051e-20 1 1 0 AHNAK2 113146 broad.mit.edu 37 14 105405095 105405095 + Missense_Mutation SNP C C A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr14:105405095C>A ENST00000333244.5 - 7 16812 c.16693G>T c.(16693-16695)Gat>Tat p.D5565Y AHNAK2_ENST00000557457.1_Missense_Mutation_p.D563Y NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5565 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) GGCTGGAGATCTCCAGAAATG 0.502000 5 32 1 1 1 1 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 3 31 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23816063 23816063 + Missense_Mutation SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr4:23816063C>T ENST00000264867.2 - 8 1162 c.1043G>A c.(1042-1044)gGg>gAg p.G348E PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 348 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) TTGCTCCGGCCCTTTCTTGGT 0.532000 26 53 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130921640 130921640 + Missense_Mutation SNP G G T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr12:130921640G>T ENST00000261655.4 - 10 1965 c.1802C>A c.(1801-1803)cCa>cAa p.P601Q RIMBP2_ENST00000535703.1_Missense_Mutation_p.P509Q|RIMBP2_ENST00000536002.1_Missense_Mutation_p.P509Q NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 601 Pro-rich. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) ACTTGCTAATGGCTTTGATTG 0.652000 4 14 0.00024832 0.000274858 1 1 0 ZMYM4 9202 broad.mit.edu 37 1 35884163 35884163 + Silent SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr1:35884163C>T ENST00000314607.6 + 29 4509 c.4429C>T c.(4429-4431)Ctg>Ttg p.L1477L ZMYM4_ENST00000373297.2_Silent_p.L1388L NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 1477 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TGAGTTTTACCTGTCAAAATG 0.413000 4 50 0 0 1 0 0 STARD13 90627 broad.mit.edu 37 13 33700314 33700314 + Silent SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr13:33700314G>A ENST00000336934.5 - 7 2102 c.1986C>T c.(1984-1986)ggC>ggT p.G662G STARD13_ENST00000399365.3_Silent_p.G544G|STARD13_ENST00000255486.4_Silent_p.G654G NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 662 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) TGAGAGGAACGCCAAAGACAG 0.488000 26 158 0 0 1 0 0 KIAA1644 85352 broad.mit.edu 37 22 44681558 44681558 + Missense_Mutation SNP G G C TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr22:44681558G>C ENST00000381176.4 - 4 481 c.349C>G c.(349-351)Ctt>Gtt p.L117V NM_001099294.1 NP_001092764.1 Q3SXP7 K1644_HUMAN KIAA1644 117 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) TAATACAAAAGGTCCAGAACC 0.532000 53 268 0 0 1 0 0 RNF31 55072 broad.mit.edu 37 14 24617597 24617597 + Missense_Mutation SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr14:24617597G>A ENST00000324103.6 + 3 790 c.470G>A c.(469-471)cGg>cAg p.R157Q RNF31_ENST00000559275.1_5'UTR|RNF31_ENST00000557878.1_3'UTR NM_017999.4 NP_060469.4 Q96EP0 RNF31_HUMAN ring finger protein 31 157 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1) 39 GBM - Glioblastoma multiforme(265;0.00861) CTGCTGCTTCGGACAGAGCTC 0.547000 12 38 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25481559 25481559 + Missense_Mutation SNP C C T rs140736402 by1000genomes TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr20:25481559C>T ENST00000278886.6 - 8 1022 c.949G>A c.(949-951)Gat>Aat p.D317N NINL_ENST00000422516.1_Missense_Mutation_p.D317N NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 317 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 CCAGAACCATCGTCAATGCTG 0.582000 5 64 0 0 1 0 0 PTBP1 5725 broad.mit.edu 37 19 803627 803627 + Missense_Mutation SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr19:803627G>A ENST00000356948.6 + 3 529 c.106G>A c.(106-108)Gct>Act p.A36T PTBP1_ENST00000349038.4_Missense_Mutation_p.A36T|PTBP1_ENST00000394601.4_Missense_Mutation_p.A36T|PTBP1_ENST00000350092.4_Intron NM_002819.4 NP_002810.1 P26599 PTBP1_HUMAN polypyrimidine tract binding protein 1 36 negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4) 19 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CAGCAACTCGGCTTCTGCAGG 0.547000 4 125 0 0 1 0 0 CEP120 153241 broad.mit.edu 37 5 122700259 122700259 + Silent SNP T T C TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr5:122700259T>C ENST00000306467.5 - 18 2815 c.2511A>G c.(2509-2511)gcA>gcG p.A837A CEP120_ENST00000306481.6_Silent_p.A811A|CEP120_ENST00000328236.5_Silent_p.A837A Q8N960 CE120_HUMAN centrosomal protein 120kDa 837 centrosome breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 TAGACTTAGTTGCAGATTCCA 0.338000 13 63 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18937327 18937327 + Missense_Mutation SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr16:18937327C>T ENST00000446231.2 - 1 449 c.37G>A c.(37-39)Ggc>Agc p.G13S SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.G13S Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 13 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 ccgccgccgccgctgcTCAGC 0.736000 3 21 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 993363 993363 + Silent SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr12:993363C>T ENST00000537687.1 + 18 5221 c.4578C>T c.(4576-4578)agC>agT p.S1526S WNK1_ENST00000315939.6_Silent_p.S1266S|WNK1_ENST00000535572.1_Silent_p.S1019S|WNK1_ENST00000530271.2_Silent_p.S1764S|WNK1_ENST00000340908.4_Silent_p.S859S NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1266 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TGCCAGAAAGCCGATTACGAG 0.408000 4 139 0 0 1 0 0 RALYL 138046 broad.mit.edu 37 8 85799876 85799876 + Silent SNP G G T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr8:85799876G>T ENST00000521268.1 + 8 1828 c.723G>T c.(721-723)ctG>ctT p.L241L RALYL_ENST00000523850.1_Silent_p.L168L|RALYL_ENST00000518566.1_Silent_p.L230L|RALYL_ENST00000521695.1_Silent_p.L241L|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000517638.1_Silent_p.L254L|RALYL_ENST00000522455.1_Silent_p.L241L NM_173848.5 NP_776247.3 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like 241 identical protein binding|nucleotide binding|RNA binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 GTCTAGTGCTGATCCAAGAGG 0.498000 15 108 4.7546e-09 5.69767e-09 1 1 0 ZNF781 163115 broad.mit.edu 37 19 38160483 38160483 + Silent SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr19:38160483G>A ENST00000358582.4 - 4 1315 c.567C>T c.(565-567)ctC>ctT p.L189L ZNF781_ENST00000590008.1_Silent_p.L189L|ZFP30_ENST00000586732.1_Intron NM_152605.3 NP_689818.2 Q8N8C0 ZN781_HUMAN zinc finger protein 781 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 CTCTGGTGTTGAGTAAGTGTT 0.368000 12 68 0 0 1 0 0 CAMK1G 57172 broad.mit.edu 37 1 209785550 209785550 + Silent SNP C C A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr1:209785550C>A ENST00000009105.1 + 11 1574 c.1329C>A c.(1327-1329)gcC>gcA p.A443A CAMK1G_ENST00000361322.2_Silent_p.A443A Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 443 A -> T (in a breast infiltrating ductal carcinoma sample; somatic mutation). Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) TCAAAAAGGCCAACAAAAAAC 0.527000 8 56 0.00307968 0.0033078 1 1 0 ZNF587 84914 broad.mit.edu 37 19 58370783 58370783 + Nonsense_Mutation SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr19:58370783C>T ENST00000339656.5 + 3 1185 c.1003C>T c.(1003-1005)Caa>Taa p.Q335* ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Nonsense_Mutation_p.Q334*|ZNF587_ENST00000419854.1_Nonsense_Mutation_p.Q292*|ZNF814_ENST00000597342.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) ATCTTTTGGTCAAAAGGGTAA 0.443000 32 75 0 0 1 0 0 GPR83 10888 broad.mit.edu 37 11 94113782 94113782 + Missense_Mutation SNP A A T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr11:94113782A>T ENST00000243673.2 - 4 976 c.805T>A c.(805-807)Tgt>Agt p.C269S GPR83_ENST00000539203.2_Missense_Mutation_p.C227S NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 269 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) ATCATATTACACAGCCACAGT 0.522000 26 25 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147380242 147380242 + Missense_Mutation SNP T T C TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr1:147380242T>C ENST00000240986.4 + 2 213 c.160T>C c.(160-162)Tgc>Cgc p.C54R GJA8_ENST00000369235.1_Missense_Mutation_p.C54R NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 54 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) CGACTTCGTGTGCAACACCCA 0.592000 5 60 0 0 1 0 0 FAM181A 90050 broad.mit.edu 37 14 94395392 94395392 + Missense_Mutation SNP A A G TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr14:94395392A>G ENST00000267594.5 + 3 1254 c.947A>G c.(946-948)cAc>cGc p.H316R FAM181A_ENST00000556222.1_Missense_Mutation_p.H254R|FAM181A_ENST00000557000.2_Missense_Mutation_p.H254R|FAM181A_ENST00000557719.1_Missense_Mutation_p.H254R NM_001207073.1|NM_001207074.1|NM_138344.4 NP_001194002.1|NP_001194003.1|NP_612353.3 Q8N9Y4 F181A_HUMAN family with sequence similarity 181, member A 316 cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 GAGCTGGCGCACCTCTGCAAG 0.667000 15 57 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33337674 33337674 + Missense_Mutation SNP T T C TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr20:33337674T>C ENST00000374796.2 - 10 4894 c.2324A>G c.(2323-2325)aAc>aGc p.N775S NCOA6_ENST00000359003.2_Missense_Mutation_p.N775S Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 775 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 AGATGGACTGTTGTTCACAGG 0.557000 10 57 0 0 1 0 0 DENND2A 27147 broad.mit.edu 37 7 140267046 140267046 + Missense_Mutation SNP T T G TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr7:140267046T>G ENST00000275884.6 - 8 2036 c.1619A>C c.(1618-1620)aAg>aCg p.K540T DENND2A_ENST00000537639.1_Missense_Mutation_p.K540T|DENND2A_ENST00000496613.1_Missense_Mutation_p.K540T|DENND2A_ENST00000492720.1_Missense_Mutation_p.K540T Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 540 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) CAGCCGGGACTTCACGTTGAC 0.562000 11 76 0 0 1 0 0 VDAC1 7416 broad.mit.edu 37 5 133326754 133326754 + Missense_Mutation SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr5:133326754G>A ENST00000265333.3 - 4 453 c.209C>T c.(208-210)aCg>aTg p.T70M VDAC1_ENST00000395044.3_Missense_Mutation_p.T70M|VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395047.2_Missense_Mutation_p.T70M NM_003374.2 NP_003365.1 P21796 VDAC1_HUMAN voltage-dependent anion channel 1 70 apoptosis|interspecies interaction between organisms mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex porin activity|protein binding|voltage-gated anion channel activity endometrium(1)|large_intestine(1)|lung(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) Dihydroxyaluminium(DB01375) CTCTGTAAACGTCAGGCCGTA 0.458000 20 124 0 0 1 0 0 RASSF5 83593 broad.mit.edu 37 1 206760350 206760350 + Silent SNP T T C TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr1:206760350T>C ENST00000338603.2 + 7 1224 c.1167T>C c.(1165-1167)taT>taC p.Y389Y RASSF5_ENST00000304534.8_3'UTR|RASSF5_ENST00000367117.3_3'UTR|RASSF5_ENST00000355294.4_3'UTR|RASSF5_ENST00000491368.1_3'UTR|EIF2D_ENST00000472709.2_Intron NM_182663.2 NP_872604.1 Q8WWW0 RASF5_HUMAN Ras association (RalGDS/AF-6) domain family member 5 0 SARAH. apoptosis|intracellular signal transduction cytoplasm|microtubule metal ion binding|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 8 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) TTCAGatttatttgtattatt 0.463000 7 27 0 0 1 0 0 DVL2 1856 broad.mit.edu 37 17 7137547 7137547 + Missense_Mutation SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr17:7137547C>T ENST00000005340.5 - 1 317 c.35G>A c.(34-36)gGg>gAg p.G12E DVL2_ENST00000575458.1_Missense_Mutation_p.G12E NM_004422.2 NP_004413.1 O14641 DVL2_HUMAN dishevelled segment polarity protein 2 12 DIX.|Poly-Gly. canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 CTTCGTCTCCCCAACCCCACC 0.667000 8 100 0 0 1 0 0 LRRC28 123355 broad.mit.edu 37 15 99901591 99901591 + Missense_Mutation SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr15:99901591C>T ENST00000301981.3 + 8 986 c.746C>T c.(745-747)tCa>tTa p.S249L LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000447360.2_Missense_Mutation_p.S249L|LRRC28_ENST00000422500.2_Missense_Mutation_p.S180L|LRRC28_ENST00000558879.1_Intron NM_144598.2 NP_653199.2 Q86X40 LRC28_HUMAN leucine rich repeat containing 28 249 endometrium(2)|large_intestine(3)|lung(6)|prostate(1) 12 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) TCCTTTTCATCAGGGCAGCGA 0.488000 OREG0023509 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 16 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 4 44 0 0 1 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148786095 148786095 + Missense_Mutation SNP G G T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr4:148786095G>T ENST00000336498.3 + 6 824 c.585G>T c.(583-585)gaG>gaT p.E195D NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 195 BAR. 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) AGAAGTTTGAGTTTGTGGAAC 0.378000 14 41 3.27435e-08 3.89165e-08 1 1 0 CERS6 253782 broad.mit.edu 37 2 169417809 169417809 + Silent SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr2:169417809G>A ENST00000305747.6 + 3 971 c.384G>A c.(382-384)acG>acA p.T128T CERS6_ENST00000392687.4_Silent_p.T128T NM_203463.2 NP_982288.1 Q6ZMG9 CERS6_HUMAN ceramide synthase 6 128 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity AGCCAAGCACGCTGACGAGGT 0.448000 71 48 0 0 1 0 0 WDR64 128025 broad.mit.edu 37 1 241912941 241912941 + Missense_Mutation SNP C C T rs76254601 byFrequency TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr1:241912941C>T ENST00000366552.2 + 13 1864 c.1657C>T c.(1657-1659)Cgc>Tgc p.R553C WDR64_ENST00000437684.2_Missense_Mutation_p.R553C NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 553 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) CTGCCTACGACGCCTCATTTT 0.532000 29 83 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21228379 21228379 + Silent SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr2:21228379G>A ENST00000233242.1 - 26 11488 c.11361C>T c.(11359-11361)ccC>ccT p.P3787P NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3787 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATTTTACCTCGGGGAGTGTTG 0.398000 94 103 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170843819 170843819 + Missense_Mutation SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr3:170843819C>T ENST00000436636.2 - 17 2239 c.1895G>A c.(1894-1896)cGc>cAc p.R632H TNIK_ENST00000475336.1_Missense_Mutation_p.R548H|TNIK_ENST00000470834.1_Missense_Mutation_p.R603H|TNIK_ENST00000357327.5_Missense_Mutation_p.R603H|TNIK_ENST00000341852.6_Missense_Mutation_p.R548H|TNIK_ENST00000284483.8_Missense_Mutation_p.R632H|TNIK_ENST00000369326.5_Missense_Mutation_p.R603H|TNIK_ENST00000460047.1_Missense_Mutation_p.R577H|TNIK_ENST00000538048.1_Missense_Mutation_p.R577H|TNIK_ENST00000488470.1_Missense_Mutation_p.R577H NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 632 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) CATCTCCACGCGGTGGGAGGT 0.577000 40 63 0 0 1 0 0 PLOD1 5351 broad.mit.edu 37 1 12030871 12030871 + Missense_Mutation SNP A A G TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr1:12030871A>G ENST00000196061.4 + 17 1927 c.1900A>G c.(1900-1902)Agg>Ggg p.R634G PLOD1_ENST00000376369.3_Missense_Mutation_p.R681G NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 634 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) CTACTACACCAGGGTGGGCAA 0.607000 3 36 0 0 1 0 0 PTGS2 5743 broad.mit.edu 37 1 186648456 186648456 + Missense_Mutation SNP G G T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr1:186648456G>T ENST00000367468.5 - 2 303 c.167C>A c.(166-168)aCa>aAa p.T56K PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 56 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) AAACTTACGTGTTGAGCAGTT 0.428000 4 64 0.150653 0.15276 1 1 0 TUB 7275 broad.mit.edu 37 11 8120328 8120328 + Missense_Mutation SNP T T C TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr11:8120328T>C ENST00000305253.4 + 10 1428 c.1187T>C c.(1186-1188)tTc>tCc p.F396S TUB_ENST00000534099.1_Missense_Mutation_p.F347S|TUB_ENST00000299506.2_Missense_Mutation_p.F341S NM_003320.4 NP_003311.2 P50607 TUB_HUMAN tubby bipartite transcription factor 341 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) GGCACCAAGTTCACTGTTTAT 0.502000 OREG0020732 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 144 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48264042 48264042 + Missense_Mutation SNP G G T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr17:48264042G>T ENST00000225964.5 - 48 3891 c.3773C>A c.(3772-3774)aCc>aAc p.T1258N NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 1258 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GTCACGGCAGGTGCGGGCGGG 0.647000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 16 148 4.7546e-09 5.69767e-09 1 1 0 DIAPH3 81624 broad.mit.edu 37 13 60435606 60435606 + Missense_Mutation SNP T T G TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr13:60435606T>G ENST00000400324.4 - 22 2892 c.2672A>C c.(2671-2673)gAa>gCa p.E891A DIAPH3_ENST00000400330.1_Missense_Mutation_p.E891A|DIAPH3_ENST00000377908.2_Missense_Mutation_p.E880A|DIAPH3_ENST00000267215.4_Missense_Mutation_p.E891A|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.E821A|DIAPH3_ENST00000400320.1_Missense_Mutation_p.E845A NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 891 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) GTACTTCTCTTCACATATTTC 0.368000 7 58 0 0 1 0 0 CSN2 1447 broad.mit.edu 37 4 70823024 70823024 + Nonsense_Mutation SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr4:70823024G>A ENST00000353151.3 - 5 654 c.643C>T c.(643-645)Cag>Tag p.Q215* NM_001891.2 NP_001882.1 P05814 CASB_HUMAN casein beta 215 TQPLAPVHN -> PEPSTTZABH (in Ref. 6; AA sequence). calcium ion transport extracellular region calcium ion binding|enzyme inhibitor activity|transporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2) 12 GCAAGTGGCTGAGTCACAGGG 0.463000 4 54 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167095768 167095768 + Missense_Mutation SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr1:167095768G>A ENST00000361200.2 + 6 1566 c.1400G>A c.(1399-1401)cGc>cAc p.R467H DUSP27_ENST00000271385.5_Missense_Mutation_p.R467H|DUSP27_ENST00000443333.1_Missense_Mutation_p.R467H|DUSP27_ENST00000485151.1_Intron Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 467 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity p.R467H(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 AGGAGGCGCCGCGCAGACTCG 0.652000 3 33 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52359718 52359718 + Silent SNP C C A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr8:52359718C>A ENST00000356297.4 - 12 1471 c.1371G>T c.(1369-1371)ggG>ggT p.G457G PXDNL_ENST00000543296.1_Silent_p.G457G NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 457 Ig-like C2-type 3. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CAGGGAGCTGCCCTCCTGCAA 0.517000 6 111 0.00198382 0.00214667 1 1 0 QKI 9444 broad.mit.edu 37 6 163899929 163899929 + Splice_Site SNP G G T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr6:163899929G>T ENST00000361752.3 + 3 953 c.e3+1 QKI_ENST00000275262.7_Splice_Site|QKI_ENST00000453779.2_Splice_Site|QKI_ENST00000392127.2_Splice_Site|QKI_ENST00000424802.3_Splice_Site|QKI_ENST00000361195.2_Splice_Site NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2 NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1 Q96PU8 QKI_HUMAN QKI, KH domain containing, RNA binding mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2) 27 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) TAAAAAAAAGGTAAGTCCTTG 0.348000 9 42 0.00829132 0.00884001 1 1 0 CPXM1 56265 broad.mit.edu 37 20 2775056 2775056 + Missense_Mutation SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr20:2775056C>T ENST00000380605.2 - 14 2049 c.1985G>A c.(1984-1986)cGt>cAt p.R662H NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 662 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 GGTCAGCAGACGCCAATAATC 0.602000 9 43 0 0 1 0 0 LHX2 9355 broad.mit.edu 37 9 126783459 126783459 + Missense_Mutation SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr9:126783459G>A ENST00000373615.4 + 4 1548 c.809G>A c.(808-810)cGc>cAc p.R270H NM_004789.3 NP_004780.3 P50458 LHX2_HUMAN LIM homeobox 2 270 nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1) 10 AAGCGCATGCGCACGTCCTTC 0.572000 7 92 0 0 1 0 0 IGLV7-46 0 broad.mit.edu 37 22 22724333 22724333 + RNA SNP T T C TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr22:22724333T>C ENST00000390295.2 + 0 263 CAACAAACACTCCTGGACACC 0.562000 5 29 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158257856 158257856 + Missense_Mutation SNP T T A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr4:158257856T>A ENST00000296526.7 + 11 2126 c.1801T>A c.(1801-1803)Tcc>Acc p.S601T GRIA2_ENST00000449365.1_Missense_Mutation_p.S554T|GRIA2_ENST00000393815.2_Missense_Mutation_p.S554T|GRIA2_ENST00000507898.1_Missense_Mutation_p.S554T|GRIA2_ENST00000264426.9_Missense_Mutation_p.S601T NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 601 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TCTCTGGTTTTCCTTGGGTGC 0.428000 22 137 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418650 105418650 + Silent SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr14:105418650G>A ENST00000333244.5 - 7 3257 c.3138C>T c.(3136-3138)ctC>ctT p.L1046L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1046 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) GCTGAATGCTGAGGTCAGTGG 0.617000 36 181 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5214707 5214707 + Silent SNP G G A rs144200009 byFrequency TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr19:5214707G>A ENST00000372412.4 - 29 4595 c.4362C>T c.(4360-4362)gaC>gaT p.D1454D PTPRS_ENST00000357368.4_Silent_p.D1453D|PTPRS_ENST00000262963.6_Silent_p.D1433D|PTPRS_ENST00000353284.2_Silent_p.D1006D|PTPRS_ENST00000348075.2_Silent_p.D1415D|PTPRS_ENST00000588012.1_Silent_p.D1415D|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000587303.1_Silent_p.D1453D|PTPRS_ENST00000592099.1_Silent_p.D1006D Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1453 Tyrosine-protein phosphatase 1. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) ACCGGTAGCCGTCCACGTAGT 0.612000 3 34 0 0 1 0 0 MAP1S 55201 broad.mit.edu 37 19 17835965 17835965 + Silent SNP T T G TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr19:17835965T>G ENST00000324096.4 + 4 562 c.411T>G c.(409-411)ccT>ccG p.P137P MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.P111P NM_018174.4 NP_060644.4 Q66K74 MAP1S_HUMAN microtubule-associated protein 1S 137 Necessary for the microtubule-organizing center localization. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 GCTTCTCGCCTCACCACTTCC 0.607000 5 121 0 0 1 0 0 ZNF225 7768 broad.mit.edu 37 19 44636284 44636284 + Missense_Mutation SNP A A G TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr19:44636284A>G ENST00000262894.6 + 5 1797 c.1517A>G c.(1516-1518)cAc>cGc p.H506R ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.H506R NM_013362.2 NP_037494.2 Q9UK10 ZN225_HUMAN zinc finger protein 225 506 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 16 Prostate(69;0.0352)|all_neural(266;0.202) CGTAGAGTCCACAGTGGAGAA 0.378000 13 98 0 0 1 0 0 PSD 5662 broad.mit.edu 37 10 104173704 104173704 + Missense_Mutation SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr10:104173704C>T ENST00000020673.5 - 5 1901 c.1375G>A c.(1375-1377)Gcc>Acc p.A459T PSD_ENST00000406432.1_Missense_Mutation_p.A459T NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 459 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GCAAGTGGGGCGGGAGCTGGT 0.657000 12 141 0 0 1 0 0 GOLIM4 27333 broad.mit.edu 37 3 167747660 167747660 + Missense_Mutation SNP C C G TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr3:167747660C>G ENST00000470487.1 - 10 2030 c.1341G>C c.(1339-1341)caG>caC p.Q447H GOLIM4_ENST00000309027.4_Missense_Mutation_p.Q419H NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 447 Gln-rich.|Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 gctgctgttcctgctgccgta 0.647000 19 92 0 0 1 0 0 PANK3 79646 broad.mit.edu 37 5 167995897 167995897 + Missense_Mutation SNP T T A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr5:167995897T>A ENST00000239231.6 - 2 451 c.135A>T c.(133-135)ttA>ttT p.L45F NM_024594.3 NP_078870.1 Q9H999 PANK3_HUMAN pantothenate kinase 3 45 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) GAATACTTTTTAAACTCTCAA 0.413000 8 115 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109577338 109577338 + Missense_Mutation SNP C C A rs142445607 byFrequency TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr12:109577338C>A ENST00000338432.7 + 2 247 c.128C>A c.(127-129)cCg>cAg p.P43Q ACACB_ENST00000377848.3_Missense_Mutation_p.P43Q|ACACB_ENST00000377854.5_Missense_Mutation_p.P43Q O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 43 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) AACCTCATCCCGAGCCAGGAG 0.542000 5 142 0.000602214 0.00065655 1 1 0 SLC10A2 6555 broad.mit.edu 37 13 103701641 103701641 + Missense_Mutation SNP C C A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr13:103701641C>A ENST00000245312.3 - 5 1513 c.917G>T c.(916-918)gGa>gTa p.G306V NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 306 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TTCCTTACATCCTAAGAATAT 0.428000 20 87 3.51602e-12 4.32053e-12 1 1 0 SLC4A1 6521 broad.mit.edu 37 17 42333044 42333044 + Silent SNP G G T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr17:42333044G>T ENST00000262418.6 - 14 1952 c.1797C>A c.(1795-1797)ggC>ggA p.G599G NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 599 Involved in anion transport.|Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) TGCTGACCTTGCCAGGGAAAT 0.577000 8 62 3.09899e-07 3.59482e-07 1 1 0 GPR156 165829 broad.mit.edu 37 3 119962486 119962486 + Splice_Site SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr3:119962486C>T ENST00000464295.1 - 3 679 c.e3+1 GPR156_ENST00000461057.1_Splice_Site|GPR156_ENST00000315843.3_Splice_Site Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) GGGCTGCTTACCTGTTCTTCC 0.433000 56 79 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101505340 101505340 + Splice_Site SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr12:101505340G>A ENST00000392979.3 + 23 2558 c.e23-1 ANO4_ENST00000392977.3_Splice_Site|ANO4_ENST00000299222.9_Splice_Site|ANO4_ENST00000550015.1_Splice_Site NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TATTTGAATAGGAATTTGGTA 0.333000 HNSCC(74;0.22) 17 36 0 0 1 0 0 CEP76 79959 broad.mit.edu 37 18 12673405 12673405 + Missense_Mutation SNP C C A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr18:12673405C>A ENST00000262127.2 - 12 2164 c.1939G>T c.(1939-1941)Gtt>Ttt p.V647F CEP76_ENST00000423709.2_Missense_Mutation_p.V572F|RP11-973H7.2_ENST00000585331.1_RNA NM_024899.2 NP_079175.2 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 647 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ATGATCCAAACAGCACATGCA 0.378000 20 95 1.87028e-06 2.13536e-06 1 1 0 MDGA2 161357 broad.mit.edu 37 14 47426763 47426763 + Missense_Mutation SNP C C G TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr14:47426763C>G ENST00000426342.1 - 9 1755 c.1009G>C c.(1009-1011)Gcc>Ccc p.A337P MDGA2_ENST00000357362.3_Missense_Mutation_p.A337P|MDGA2_ENST00000399232.2_Missense_Mutation_p.A635P|MDGA2_ENST00000439988.2_Missense_Mutation_p.A566P NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 566 spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 ATTGGATAGGCTCTCAGTACT 0.473000 20 73 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48263140 48263140 + Splice_Site SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr17:48263140G>A ENST00000225964.5 - 50 4365 c.4248_splice c.e50+1 p.T1416_splice NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 1416 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GGCACTCACCGTGCAGCCATC 0.627000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 11 59 0 0 1 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102484976 102484976 + Nonsense_Mutation SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr5:102484976C>T ENST00000321521.9 + 8 1438 c.865C>T c.(865-867)Cga>Tga p.R289* PPIP5K2_ENST00000414217.1_Nonsense_Mutation_p.R289*|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Nonsense_Mutation_p.R289* O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 289 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TCTCAATGCACGAGAGAAATT 0.378000 12 58 0 0 1 0 0 CACNG7 59284 broad.mit.edu 37 19 54417821 54417821 + Missense_Mutation SNP A A C TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr19:54417821A>C ENST00000391767.1 + 3 476 c.264A>C c.(262-264)gaA>gaC p.E88D CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Missense_Mutation_p.E88D|CACNG7_ENST00000391766.1_Missense_Mutation_p.E88D P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 88 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) TGGTGACGGAAAACACGGAGA 0.547000 9 59 0 0 1 0 0 TERF2IP 54386 broad.mit.edu 37 16 75690150 75690150 + Missense_Mutation SNP G G A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr16:75690150G>A ENST00000300086.4 + 3 938 c.841G>A c.(841-843)Gat>Aat p.D281N NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 281 Asp/Glu-rich (acidic). negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 AACTATGTGTGATGATGATCC 0.433000 34 55 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105409473 105409473 + Silent SNP G G T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr14:105409473G>T ENST00000333244.5 - 7 12434 c.12315C>A c.(12313-12315)gcC>gcA p.A4105A AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4105 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) TTGCTCTCGGGGCCTGGACGT 0.577000 147 233 1.33848e-58 1.68764e-58 1 1 0 AC018890.6 0 broad.mit.edu 37 2 175584494 175584494 + RNA DEL T T - TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr2:175584494delT ENST00000442996.1 + 0 217 TTGCTTCTGATTTTTTTTTTT 0.532 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- CNTN6 27255 broad.mit.edu 37 3 1363509 1363510 + Frame_Shift_Ins INS - - T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr3:1363509_1363510insT ENST00000446702.2 + 8 1564_1565 c.937_938insT c.(937-939)tttfs p.F313fs CNTN6_ENST00000350110.2_Frame_Shift_Ins_p.F313fs|CNTN6_ENST00000539053.1_Frame_Shift_Ins_p.F241fs Q9UQ52 CNTN6_HUMAN contactin 6 313 axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GGGTCAACTCATTTTTTATGGT 0.351 34 80 --- --- --- --- ITPR1 3708 broad.mit.edu 37 3 4808388 4808388 + Frame_Shift_Del DEL A A - TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr3:4808388delA ENST00000302640.8 + 44 6024 c.5674delA c.(5674-5676)aafs p.K1893fs ITPR1_ENST00000357086.4_Frame_Shift_Del_p.K1860fs|ITPR1_ENST00000423119.2_Frame_Shift_Del_p.K1860fs|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Frame_Shift_Del_p.K1893fs|ITPR1_ENST00000456211.2_Frame_Shift_Del_p.K1845fs|ITPR1_ENST00000443694.2_Frame_Shift_Del_p.K1893fs NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1908 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) CCCATCACGGAAAAAAGGTAA 0.428 7 35 --- --- --- --- ADAM29 11086 broad.mit.edu 37 4 175898787 175898788 + Frame_Shift_Ins INS - - A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr4:175898787_175898788insA ENST00000359240.3 + 5 2781_2782 c.2111_2112insA c.(2110-2112)aaafs p.K704fs ADAM29_ENST00000404450.4_Frame_Shift_Ins_p.K704fs|ADAM29_ENST00000514159.1_Frame_Shift_Ins_p.K704fs|ADAM29_ENST00000445694.1_Frame_Shift_Ins_p.K704fs|RP13-577H12.2_ENST00000507525.1_RNA NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 704 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) AGTAAACCAATAAAAAAGCAGC 0.342 8 53 --- --- --- --- FAM66B 0 broad.mit.edu 37 8 7190821 7190825 + RNA DEL CCATA CCATA - TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr8:7190821_7190825delCCATA ENST00000606573.1 - 0 703 TGACATGCAGCCATACATGTCTCAG 0.498 8 13 --- --- --- --- TSTD2 158427 broad.mit.edu 37 9 100389704 100389705 + Frame_Shift_Ins INS - - T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr9:100389704_100389705insT ENST00000341170.4 - 2 522_523 c.140_141insA c.(139-141)aaafs p.K47fs TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000354801.2_5'UTR NM_139246.4 NP_640339.4 Q5T7W7 TSTD2_HUMAN thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 47 large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 15 ACGAGTATTTCTTTTTTGTACT 0.342 23 70 --- --- --- --- GPAM 57678 broad.mit.edu 37 10 113920533 113920534 + Frame_Shift_Ins INS - - A TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr10:113920533_113920534insA ENST00000348367.4 - 16 1784_1785 c.1587_1588insT c.(1585-1590)tcaagafs p.R530fs GPAM_ENST00000423155.1_Frame_Shift_Ins_p.R530fs|GPAM_ENST00000369425.1_Frame_Shift_Ins_p.R530fs Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 530 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) ACTACATCTTCTGAATTTCCTG 0.446 18 45 --- --- --- --- ZDHHC24 254359 broad.mit.edu 37 11 66307206 66307206 + Frame_Shift_Del DEL G G - TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr11:66307206delG ENST00000310442.3 - 3 883 c.649delC c.(649-651)atfs p.H217fs ZDHHC24_ENST00000526986.1_Intron NM_207340.1 NP_997223.1 Q6UX98 ZDH24_HUMAN zinc finger, DHHC-type containing 24 217 Leu-rich. integral to membrane acyltransferase activity|zinc ion binding endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1) 7 AGCATCCCATGGAAGAGCAGC 0.652 12 26 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086237 20086237 + RNA DEL T T - TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr14:20086237delT ENST00000548261.1 + 0 51 GGTGTGTGTGTGGGGGGGTAT 0.388 7 8 --- --- --- --- CRIP1 1396 broad.mit.edu 37 14 105954583 105954583 + Frame_Shift_Del DEL G G - TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr14:105954583delG ENST00000330233.7 + 2 1064 c.121delG c.(121-123)ggfs p.G42fs CRIP1_ENST00000551180.1_Frame_Shift_Del_p.W9fs|CRIP1_ENST00000392531.3_Frame_Shift_Del_p.G42fs|CRIP1_ENST00000409393.2_Frame_Shift_Del_p.G42fs P50238 CRIP1_HUMAN cysteine-rich protein 1 (intestinal) 42 LIM zinc-binding. cell proliferation cytoplasm zinc ion binding Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188) Epithelial(152;0.235) GCTGACCTCTGGGGGCCACGC 0.652 10 94 --- --- --- --- MESP2 145873 broad.mit.edu 37 15 90320135 90320146 + In_Frame_Del DEL GGGCAGGGGCAG GGGCAGGGGCAG - rs56192595 by1000genomes TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr15:90320135_90320146delGGGCAGGGGCAG ENST00000341735.3 + 1 547_558 c.547_558delGGGCAGGGGCAG c.(547-558)del p.GQGQ199del MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 199 13 X 2 AA tandem repeats of G-Q. Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) gcaggggcaagggcaggggcaggggcaggggc 0.783 4 4 --- --- --- --- RPL19 6143 broad.mit.edu 37 17 37357515 37357517 + In_Frame_Del DEL AAG AAG - TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr17:37357515_37357517delAAG ENST00000579260.1 + 2 452_454 c.49_51delAAG c.(49-51)del p.K19del RPL19_ENST00000225430.4_In_Frame_Del_p.K21del|RPL19_ENST00000579374.1_In_Frame_Del_p.K18del|RPL19_ENST00000582193.1_In_Frame_Del_p.K19del P84098 RL19_HUMAN ribosomal protein L19 21 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 CCGCTGTGGCAAGAAGAAGGTCT 0.493 18 127 --- --- --- --- CDK12 51755 broad.mit.edu 37 17 37627847 37627860 + Frame_Shift_Del DEL ACTCACTCAAAGAC ACTCACTCAAAGAC - TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr17:37627847_37627860delACTCACTCAAAGAC ENST00000447079.4 + 2 1795_1808 c.1762_1775delACTCACTCAAAGAC c.(1762-1776)afs p.THSKT588fs CDK12_ENST00000430627.2_Frame_Shift_Del_p.THSKT588fs NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 588 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 GCCCCCTTCTACTCACTCAAAGACATCTGCTGTG 0.491 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 78 170 --- --- --- --- SON 6651 broad.mit.edu 37 21 34922689 34922689 + Frame_Shift_Del DEL G G - rs140536115 TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr21:34922689delG ENST00000356577.4 + 3 1627 c.1152delG c.(1150-1152)ccfs p.P384fs SON_ENST00000381679.4_Frame_Shift_Del_p.P384fs|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Frame_Shift_Del_p.P384fs|SON_ENST00000300278.4_Frame_Shift_Del_p.P384fs NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 384 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 TGGAGTTGCCGGGGCCACCTG 0.642 24 103 --- --- --- --- ZDHHC8P1 0 broad.mit.edu 37 22 23742494 23742495 + RNA INS - - G TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr22:23742494_23742495insG ENST00000255890.4 - 0 714_715 GGGCAGTGCATGGGGGGGCAAA 0.663 7 22 --- --- --- --- TMPRSS6 164656 broad.mit.edu 37 22 37480809 37480809 + Frame_Shift_Del DEL G G - TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed8374-a8ff-4d14-a886-ee50f37c0ac5 e1e7d94f-1962-4438-b722-3d6d003eb6ea g.chr22:37480809delG ENST00000381792.2 - 9 1184 c.1044delC c.(1042-1044)ccfs p.P348fs TMPRSS6_ENST00000442782.2_Frame_Shift_Del_p.P357fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Del_p.P348fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Del_p.P348fs|TMPRSS6_ENST00000346753.3_Frame_Shift_Del_p.P357fs Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 357 CUB 2. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 AGTAGTAGCTGGGGAAGTACG 0.637 2 4 --- --- --- ---