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 ATP2C1 27032 broad.mit.edu 37 3 130698121 130698121 + Silent SNP G G T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr3:130698121G>T ENST00000510168.1 + 19 2149 c.1599G>T c.(1597-1599)ctG>ctT p.L533L ATP2C1_ENST00000507488.2_Silent_p.L517L|ATP2C1_ENST00000328560.8_Silent_p.L533L|ATP2C1_ENST00000422190.2_Silent_p.L533L|ATP2C1_ENST00000428331.2_Silent_p.L533L|ATP2C1_ENST00000508532.1_Silent_p.L533L|ATP2C1_ENST00000393221.4_Silent_p.L567L|ATP2C1_ENST00000359644.3_Silent_p.L533L|ATP2C1_ENST00000513801.1_Silent_p.L517L|ATP2C1_ENST00000505330.1_Silent_p.L517L|ATP2C1_ENST00000504381.1_Silent_p.L478L|ATP2C1_ENST00000504948.1_Silent_p.L517L|ATP2C1_ENST00000533801.2_Silent_p.L528L P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 533 actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) GTCCTGAACTGGGACAGCTGA 0.383000 Hailey-Hailey disease 17 111 1.02788e-11 1.08198e-11 1 1 0 ZC3H13 23091 broad.mit.edu 37 13 46577302 46577302 + Nonsense_Mutation SNP G G A TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr13:46577302G>A ENST00000242848.4 - 8 1264 c.916C>T c.(916-918)Cga>Tga p.R306* ZC3H13_ENST00000470308.1_5'UTR|ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R306* Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 306 nucleic acid binding|zinc ion binding p.R306*(1) cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TCTCTTTGTCGTTCAAAATCT 0.318000 10 74 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10222452 10222452 + Silent SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr17:10222452C>T ENST00000418404.3 - 26 3556 c.3393G>A c.(3391-3393)acG>acA p.T1131T MYH13_ENST00000570743.1_Silent_p.T1131T|MYH13_ENST00000252172.4_Silent_p.T1131T Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1131 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 TGGCTCTGAGCGTGTGTTCCG 0.557000 33 61 0 0 1 0 0 CHRNB2 1141 broad.mit.edu 37 1 154543704 154543704 + Silent SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr1:154543704C>T ENST00000368476.3 + 5 669 c.405C>T c.(403-405)gcC>gcT p.A135A NM_000748.2 NP_000739.1 P17787 ACHB2_HUMAN cholinergic receptor, nicotinic, beta 2 (neuronal) 135 B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3) 28 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) ATTCCAATGCCGTGGTCTCCT 0.532000 33 77 0 0 1 0 0 LTBP3 4054 broad.mit.edu 37 11 65310638 65310638 + Missense_Mutation SNP T T G TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr11:65310638T>G ENST00000301873.5 - 18 2802 c.2534A>C c.(2533-2535)aAt>aCt p.N845T LTBP3_ENST00000536982.1_Missense_Mutation_p.N471T|LTBP3_ENST00000322147.4_Missense_Mutation_p.N845T|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000532932.1_Missense_Mutation_p.N275T|LTBP3_ENST00000529189.1_5'UTR NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 845 Cys-rich.|EGF-like 8; calcium-binding (Potential). extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 GTAGGAGCCATTGGTATTGAT 0.577000 5 74 0 0 1 0 0 AMZ1 155185 broad.mit.edu 37 7 2752291 2752291 + Missense_Mutation SNP G G T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr7:2752291G>T ENST00000312371.4 + 7 1644 c.1276G>T c.(1276-1278)Gac>Tac p.D426Y AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_3'UTR NM_133463.1 NP_597720.1 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 426 metallopeptidase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) GGCAGAGGAGGACCTGGTGCA 0.697000 20 6 5.03518e-11 5.20881e-11 1 1 0 GRIP2 80852 broad.mit.edu 37 3 14545076 14545076 + RNA SNP C C A TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr3:14545076C>A ENST00000273083.3 - 0 2741 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 AGCCATACCTCCAGTTCCCTC 0.617000 5 12 0.014758 0.014758 1 1 0 TBP 6908 broad.mit.edu 37 6 170871085 170871085 + Silent SNP G G A TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr6:170871085G>A ENST00000392092.2 + 3 540 c.261G>A c.(259-261)caG>caA p.Q87Q TBP_ENST00000540980.1_Silent_p.Q67Q|TBP_ENST00000230354.6_Silent_p.Q87Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 87 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.617000 4 35 0 0 1 0 0 PDGFD 80310 broad.mit.edu 37 11 103870820 103870820 + Missense_Mutation SNP G G T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr11:103870820G>T ENST00000302251.5 - 2 721 c.270C>A c.(268-270)gaC>gaA p.D90E PDGFD_ENST00000393158.2_Missense_Mutation_p.D96E NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 96 CUB. positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) CAAACTGATTGTCAAACACTA 0.418000 34 55 3.11337e-16 3.33576e-16 1 1 0 CA9 768 broad.mit.edu 37 9 35676348 35676348 + Missense_Mutation SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr9:35676348C>T ENST00000378357.4 + 5 906 c.802C>T c.(802-804)Cgc>Tgc p.R268C CA9_ENST00000493245.1_Intron NM_001216.2 NP_001207.2 Q16790 CAH9_HUMAN carbonic anhydrase IX 268 Catalytic. one-carbon metabolic process integral to membrane|microvillus membrane|nucleolus carbonate dehydratase activity|zinc ion binding kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 17 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GGCCTTGGGGCGCCCGGGAGG 0.647000 5 151 0 0 1 0 0 RAD51D 5892 broad.mit.edu 37 17 33430506 33430506 + Missense_Mutation SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr17:33430506C>T ENST00000345365.6 - 7 889 c.634G>A c.(634-636)Gtt>Att p.V212I RAD51D_ENST00000590016.1_Missense_Mutation_p.V232I|RAD51D_ENST00000394589.4_Missense_Mutation_p.V212I|RAD51D_ENST00000460118.2_Missense_Mutation_p.V93I|RAD51D_ENST00000360276.3_Missense_Mutation_p.V167I|RAD51D_ENST00000590380.1_5'UTR|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.V53I|RAD51D_ENST00000335858.7_Missense_Mutation_p.V100I NM_002878.3 NP_002869.3 O75771 RA51D_HUMAN RAD51 paralog D 212 DNA repair|reciprocal meiotic recombination nucleus ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 AGTGGGGAAACCACCGCAGTG 0.582000 Direct reversal of damage 13 22 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 3 17 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9046680 9046680 + Missense_Mutation SNP G G A TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr19:9046680G>A ENST00000397910.4 - 5 35154 c.34951C>T c.(34951-34953)Cct>Tct p.P11651S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11653 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCAGGAGAAGGAGTCAAAGTT 0.512000 9 116 0 0 1 0 0 IFIT2 3433 broad.mit.edu 37 10 91066938 91066938 + Missense_Mutation SNP G G A TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr10:91066938G>A ENST00000371826.3 + 2 1394 c.1225G>A c.(1225-1227)Gaa>Aaa p.E409K LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron NM_001547.4 NP_001538.4 P09913 IFIT2_HUMAN interferon-induced protein with tetratricopeptide repeats 2 409 negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway protein binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 12 Colorectal(252;0.0161) AAGGGAGAAAGAAAAGATGAA 0.408000 30 60 0 0 1 0 0 AC004702.2 0 broad.mit.edu 37 17 20224905 20224905 + RNA SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr17:20224905C>T ENST00000580225.1 + 0 105 CCDC144CP_ENST00000340196.4_RNA GGTCGGGCGACGTCCCTGGGG 0.652000 6 209 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 20869195 20869195 + Silent SNP G G A TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr11:20869195G>A ENST00000298925.5 + 5 639 c.486G>A c.(484-486)aaG>aaA p.K162K NELL1_ENST00000325319.5_Intron|NELL1_ENST00000532434.1_Silent_p.K134K|NELL1_ENST00000357134.5_Silent_p.K134K Q92832 NELL1_HUMAN NEL-like 1 (chicken) 134 TSP N-terminal. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 ACAATGGGAAGCCAAGGACAG 0.463000 13 24 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101944688 101944688 + Missense_Mutation SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr13:101944688C>T ENST00000251127.6 - 8 910 c.829G>A c.(829-831)Gcc>Acc p.A277T NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.A277T NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 277 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCCTGTGAGGCGGCCTCATAG 0.458000 14 30 0 0 1 0 0 SORCS2 57537 broad.mit.edu 37 4 7741958 7741958 + Silent SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr4:7741958C>T ENST00000507866.2 + 27 3556 c.3447C>T c.(3445-3447)aaC>aaT p.N1149N SORCS2_ENST00000329016.9_Silent_p.N992N NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 1149 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 TGAGCATCAACTCCCGAGAGA 0.612000 7 9 0 0 1 0 0 EFNA3 1944 broad.mit.edu 37 1 155057707 155057707 + Missense_Mutation SNP T T C TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr1:155057707T>C ENST00000368408.3 + 2 339 c.269T>C c.(268-270)aTg>aCg p.M90T EFNA3_ENST00000505139.1_Missense_Mutation_p.M85T|EFNA3_ENST00000556931.1_Missense_Mutation_p.M85T|EFNA3_ENST00000418360.2_Missense_Mutation_p.M90T NM_004952.4 NP_004943.1 P52797 EFNA3_HUMAN ephrin-A3 90 cell-cell signaling anchored to membrane|integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2) 5 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193) GTGCTGTACATGGTGAGCCGC 0.677000 5 19 0 0 1 0 0 WIF1 11197 broad.mit.edu 37 12 65461530 65461530 + Silent SNP A A G TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr12:65461530A>G ENST00000286574.4 - 5 953 c.579T>C c.(577-579)aaT>aaC p.N193N NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 193 EGF-like 1. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) TGCGTCTTTCATTACAAAAGC 0.493000 T HMGA2 pleomorphic salivary gland adenoma 17 30 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5410606 5410606 + Missense_Mutation SNP G G A rs143942399 TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr18:5410606G>A ENST00000341928.2 - 14 2420 c.2080C>T c.(2080-2082)Cgc>Tgc p.R694C EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R525C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R525C|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R525C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R694C|EPB41L3_ENST00000542652.2_5'UTR NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 694 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 GTGTCCGTGCGCTCACTGTCA 0.557000 14 12 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23524526 23524526 + Missense_Mutation SNP G G A TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr5:23524526G>A ENST00000296682.3 + 10 1216 c.1034G>A c.(1033-1035)cGa>cAa p.R345Q NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 345 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.R345L(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AGAACCTGCCGAGTCATTAGG 0.552000 HNSCC(3;0.000094) 15 51 0 0 1 0 0 ZNF652 22834 broad.mit.edu 37 17 47394509 47394509 + Missense_Mutation SNP C C G TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr17:47394509C>G ENST00000362063.2 - 2 897 c.579G>C c.(577-579)agG>agC p.R193S ZNF652_ENST00000430262.2_Missense_Mutation_p.R193S NM_014897.2 NP_055712.1 Q9Y2D9 ZN652_HUMAN zinc finger protein 652 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17) BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05) AGGCAGCTCTCCTGGTTCTCC 0.493000 4 85 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7653874 7653874 + Silent SNP G G A TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr12:7653874G>A ENST00000359156.4 - 3 520 c.318C>T c.(316-318)tcC>tcT p.S106S CD163_ENST00000396620.3_Silent_p.S106S|CD163_ENST00000541972.1_Silent_p.S94S|CD163_ENST00000432237.2_Silent_p.S106S NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 106 SRCR 1. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 AACCTGCACTGGAATTAGCCC 0.483000 50 56 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183493770 183493770 + Silent SNP A A C rs79893976 TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr3:183493770A>C ENST00000305135.5 + 18 2631 c.2436A>C c.(2434-2436)ggA>ggC p.G812G NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 812 Gly-rich. histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) gaggaggaggaggcggcagtg 0.582000 3 42 0 0 1 0 0 SMAD6 4091 broad.mit.edu 37 15 67073650 67073650 + Missense_Mutation SNP G G A TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr15:67073650G>A ENST00000288840.5 + 4 2299 c.1268G>A c.(1267-1269)cGc>cAc p.R423H SMAD6_ENST00000338426.4_Missense_Mutation_p.R162H NM_005585.4 NP_005576.3 O43541 SMAD6_HUMAN SMAD family member 6 423 MH2. BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis cytosol|transcription factor complex co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding lung(1)|skin(1) 2 CCCGGCGGCCGCGCCCTGGTC 0.726000 3 12 0 0 1 0 0 EPN1 29924 broad.mit.edu 37 19 56206217 56206217 + Missense_Mutation SNP A A G TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr19:56206217A>G ENST00000411543.2 + 10 2195 c.1648A>G c.(1648-1650)Acg>Gcg p.T550A EPN1_ENST00000085079.7_Missense_Mutation_p.T438A|EPN1_ENST00000270460.6_Missense_Mutation_p.T464A NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 464 3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) ACCAACTCCCACGCCCCCCAC 0.716000 10 11 0 0 1 0 0 GZMK 3003 broad.mit.edu 37 5 54327292 54327292 + Missense_Mutation SNP G G A TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr5:54327292G>A ENST00000231009.2 + 4 534 c.464G>A c.(463-465)gGa>gAa p.G155E CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA NM_002104.2 NP_002095.1 P49863 GRAK_HUMAN granzyme K (granzyme 3; tryptase II) 155 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4) 15 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) ACTGGCTGGGGAGCCACCGAT 0.443000 22 49 0 0 1 0 0 SAP18 10284 broad.mit.edu 37 13 21721465 21721465 + Missense_Mutation SNP G G A TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr13:21721465G>A ENST00000382533.4 + 4 542 c.503G>A c.(502-504)cGc>cAc p.R168H SAP18_ENST00000607003.1_Missense_Mutation_p.R149H NM_005870.4 NP_005861.2 O00422 SAP18_HUMAN Sin3A-associated protein, 18kDa 149 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|plasma membrane protein binding|transcription corepressor activity p.R149H(1) kidney(1)|large_intestine(1)|lung(4) 6 all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147) all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941) CCTTCAGGGCGCATGAGACCA 0.403000 4 126 0 0 1 0 0 VAPB 9217 broad.mit.edu 37 20 56993284 56993284 + Missense_Mutation SNP G G A TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr20:56993284G>A ENST00000475243.1 + 2 414 c.76G>A c.(76-78)Gtc>Atc p.V26I VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Missense_Mutation_p.V26I NM_004738.4 NP_004729.1 O95292 VAPB_HUMAN VAMP (vesicle-associated membrane protein)-associated protein B and C 26 MSP. cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction endoplasmic reticulum membrane|Golgi apparatus|integral to membrane beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity kidney(2)|lung(3)|prostate(1) 6 Lung NSC(12;0.000615)|all_lung(29;0.00186) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07) CACCGATGTTGTCACCACCAA 0.473000 4 116 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 6 39 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57957251 57957251 + Silent SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr12:57957251C>T ENST00000455537.2 + 2 433 c.159C>T c.(157-159)ttC>ttT p.F53F KIF5A_ENST00000286452.5_Intron NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 53 Kinesin-motor. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 ACCGTGTATTCCCCCCAAACA 0.418000 6 82 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167045902 167045902 + Silent SNP T T C TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr3:167045902T>C ENST00000392766.2 - 11 1030 c.690A>G c.(688-690)gtA>gtG p.V230V ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Silent_p.V230V|ZBBX_ENST00000392767.2_Silent_p.V230V|ZBBX_ENST00000392764.1_Silent_p.V201V|ZBBX_ENST00000455345.2_Silent_p.V230V NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 230 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TTGTAATTTCTACCTAATTAA 0.323000 34 86 0 0 1 0 0 AR 367 broad.mit.edu 37 X 66765161 66765161 + Missense_Mutation SNP A A T rs71905623 TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chrX:66765161A>T ENST00000374690.3 + 1 697 c.173A>T c.(172-174)cAg>cTg p.Q58L AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 58 Gln-rich.|Modulating.|Poly-Gln. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding p.Q58L(2) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) CTGCTGCTgcagcagcagcag 0.667000 Androgen Insensitivity Syndrome 3 14 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210560413 210560413 + Missense_Mutation SNP A A G TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr2:210560413A>G ENST00000360351.4 + 7 4025 c.3519A>G c.(3517-3519)atA>atG p.I1173M MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I1169M|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1173 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CAGTGGAAATACCTTGCCCAC 0.443000 21 33 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30935474 30935474 + Silent SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr19:30935474C>T ENST00000355537.3 + 2 1152 c.1005C>T c.(1003-1005)aaC>aaT p.N335N NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) AGGGCCCCAACGGCGGTGGCG 0.657000 6 137 0 0 1 0 0 S1PR4 8698 broad.mit.edu 37 19 3179125 3179125 + Missense_Mutation SNP G G A TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr19:3179125G>A ENST00000246115.3 + 1 390 c.335G>A c.(334-336)cGt>cAt p.R112H S1PR4_ENST00000591346.1_Intron NM_003775.3 NP_003766.1 O95977 S1PR4_HUMAN sphingosine-1-phosphate receptor 4 112 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 CGCACCTTCCGTCTGGCGCCC 0.677000 29 32 0 0 1 0 0 TKTL2 84076 broad.mit.edu 37 4 164394537 164394537 + Missense_Mutation SNP G G A TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr4:164394537G>A ENST00000280605.3 - 1 510 c.350C>T c.(349-351)cCg>cTg p.P117L NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 117 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GTCAACAAACGGCAATCGGGG 0.537000 20 43 0 0 1 0 0 LMCD1 29995 broad.mit.edu 37 3 8579031 8579031 + Missense_Mutation SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr3:8579031C>T ENST00000157600.3 + 3 524 c.292C>T c.(292-294)Cgg>Tgg p.R98W LMCD1_ENST00000397386.3_Intron|LMCD1_ENST00000454244.1_Missense_Mutation_p.R25W|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Missense_Mutation_p.R98W NM_014583.2 NP_055398.1 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 98 positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(96;0.124) CAAGAGGAACCGGATGATCAT 0.537000 9 156 0 0 1 0 0 KRT86 3892 broad.mit.edu 37 12 52700020 52700020 + Silent SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr12:52700020C>T ENST00000293525.5 + 7 1255 c.1203C>T c.(1201-1203)atC>atT p.I401I KRT86_ENST00000544024.1_Silent_p.I401I|KRT86_ENST00000423955.2_Silent_p.I401I NM_002284.3 NP_002275.1 O43790 KRT86_HUMAN keratin 86 401 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(357;0.189) GCCTGGACATCGAGATCGCCA 0.627000 OREG0021845 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 60 0 0 1 0 0 IGDCC3 9543 broad.mit.edu 37 15 65621731 65621731 + Silent SNP G G A TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr15:65621731G>A ENST00000327987.4 - 13 2453 c.2202C>T c.(2200-2202)ccC>ccT p.P734P NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 734 breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CACTCACTGTGGGTCTGGGGT 0.642000 6 112 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83691655 83691655 + Missense_Mutation SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr11:83691655C>T ENST00000398309.2 - 7 1105 c.635G>A c.(634-636)gGg>gAg p.G212E DLG2_ENST00000280241.8_Missense_Mutation_p.G251E|DLG2_ENST00000543673.1_Missense_Mutation_p.G317E|DLG2_ENST00000376104.2_Missense_Mutation_p.G317E|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000330014.6_Missense_Mutation_p.G151E|DLG2_ENST00000418306.2_Missense_Mutation_p.G161E|DLG2_ENST00000532653.1_Missense_Mutation_p.G212E|DLG2_ENST00000524982.1_Missense_Mutation_p.G212E|DLG2_ENST00000398301.2_Missense_Mutation_p.G251E|DLG2_ENST00000531015.1_Missense_Mutation_p.G179E NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 212 PDZ 2. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) GTGTTGGTTCCCCACACCTCC 0.383000 42 61 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57731273 57731273 + Missense_Mutation SNP A A C TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr15:57731273A>C ENST00000281282.5 + 2 1154 c.1076A>C c.(1075-1077)aAa>aCa p.K359T NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 359 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) TTAATTGAAAAATTTGATCAA 0.433000 22 34 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7340480 7340480 + Silent SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr3:7340480C>T ENST00000486284.1 + 3 1120 c.846C>T c.(844-846)gcC>gcT p.A282A GRM7_ENST00000357716.4_Silent_p.A282A|GRM7_ENST00000402647.2_Silent_p.A282A|GRM7_ENST00000389336.4_Silent_p.A282A|GRM7_ENST00000403881.1_Silent_p.A282A NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 282 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) ACTCCAGGGCCGTCGTGATTT 0.448000 22 27 0 0 1 0 0 KIAA0753 9851 broad.mit.edu 37 17 6513363 6513363 + Missense_Mutation SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr17:6513363C>T ENST00000361413.3 - 9 2021 c.1663G>A c.(1663-1665)Gca>Aca p.A555T KIAA0753_ENST00000589033.1_Missense_Mutation_p.A11T|KIAA0753_ENST00000542606.1_Missense_Mutation_p.A256T|KIAA0753_ENST00000572370.1_Missense_Mutation_p.A256T NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 555 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) ATCCATGGTGCCTTGCGGTCT 0.483000 11 108 0 0 1 0 0 FTMT 94033 broad.mit.edu 37 5 121187964 121187964 + Silent SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr5:121187964C>T ENST00000321339.1 + 1 315 c.306C>T c.(304-306)tcC>tcT p.S102S NM_177478.1 NP_803431.1 Q8N4E7 FTMT_HUMAN ferritin mitochondrial 102 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) ATTACTTCTCCCGGGATGACG 0.577000 4 47 0 0 1 0 0 STAT1 6772 broad.mit.edu 37 2 191851586 191851586 + Silent SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr2:191851586C>T ENST00000361099.3 - 14 1602 c.1215G>A c.(1213-1215)cgG>cgA p.R405R STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.R405R|STAT1_ENST00000392322.3_Silent_p.R405R|STAT1_ENST00000392323.2_Silent_p.R407R NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 405 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) CTACCAGGTGCCGAAATTCAG 0.458000 4 214 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 5 7 --- --- --- --- RP11-576I22.2 0 broad.mit.edu 37 1 170501120 170501121 + RNA DEL GT GT - TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr1:170501120_170501121delGT ENST00000421020.1 - 0 20_21 RP11-576I22.2_ENST00000456083.1_RNA GAGAGAGAGAGTAGAGGTAAGC 0.515 2 4 --- --- --- --- AC074391.1 0 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 3 6 --- --- --- --- ADCK5 203054 broad.mit.edu 37 8 145617535 145617549 + Splice_Site DEL GGGGGTGCAAGGTGA GGGGGTGCAAGGTGA - rs11270020 TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr8:145617535_145617549delGGGGGTGCAAGGTGA ENST00000308860.6 + 12 1301_1311 c.1267_splice c.e12+1 p.L419_splice NM_174922.3 NP_777582.3 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 419 Protein kinase. integral to membrane protein serine/threonine kinase activity p.?(2) endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA 0.730 2 4 --- --- --- --- FMR1NB 158521 broad.mit.edu 37 X 147084823 147084824 + Frame_Shift_Ins INS - - T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chrX:147084823_147084824insT ENST00000370467.3 + 2 454_455 c.380_381insT c.(379-381)attfs p.I127fs NM_152578.2 NP_689791.1 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 127 P-type. integral to membrane p.F130fs*17(1) breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) GCTTTGCTGAATTTTTTCTTTC 0.371 8 53 --- --- --- ---