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 TRPC5 7224 broad.mit.edu 37 X 111195420 111195420 + Missense_Mutation SNP C C A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chrX:111195420C>A ENST00000262839.2 - 2 1147 c.229G>T c.(229-231)Gcc>Tcc p.A77S NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 77 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TTCTCAATGGCAATGAGCAGG 0.527000 26 39 2.85442e-18 3.2859e-18 0.010818 1 0 STK10 6793 broad.mit.edu 37 5 171534817 171534817 + Missense_Mutation SNP T T C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:171534817T>C ENST00000176763.5 - 5 903 c.560A>G c.(559-561)cAg>cGg p.Q187R NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 187 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ATCTCGTTTCTGTAGAGTCTT 0.498000 OREG0017039 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 54 0 0 0.006122 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274416 39274416 + Missense_Mutation SNP C C T rs408579 by1000genomes TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr17:39274416C>T ENST00000391413.2 - 1 190 c.152G>A c.(151-153)aGg>aAg p.R51K NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51K(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCACTGGGGCCTGCAGCAGCT 0.672000 5 82 0 0 0.008291 0 0 SIRPB2 284759 broad.mit.edu 37 20 1456848 1456848 + Silent SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr20:1456848G>T ENST00000359801.3 - 5 1029 c.993C>A c.(991-993)gcC>gcA p.A331A SIRPB2_ENST00000444444.1_Silent_p.A233A NM_001122962.1 NP_001116434.1 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 331 integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 AGGTGTTCATGGCTCCTGCTG 0.592000 36 109 3.21399e-22 3.74336e-22 0.021022 1 0 SMCHD1 23347 broad.mit.edu 37 18 2732451 2732451 + Silent SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr18:2732451A>G ENST00000320876.6 + 25 3575 c.3237A>G c.(3235-3237)agA>agG p.R1079R SMCHD1_ENST00000261598.8_Silent_p.R1079R|RP11-703M24.5_ENST00000583546.1_RNA NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 1079 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 AAGGAGAAAGAGAAATCAATA 0.289000 6 28 0 0 0.021553 0 0 KCNE4 23704 broad.mit.edu 37 2 223917672 223917672 + Missense_Mutation SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:223917672G>T ENST00000281830.3 + 2 608 c.277G>T c.(277-279)Gtc>Ttc p.V93F KCNE4_ENST00000488477.2_Intron|KCNE4_ENST00000604125.1_Missense_Mutation_p.V42F Q8WWG9 KCNE4_HUMAN potassium voltage-gated channel, Isk-related family, member 4 42 integral to membrane voltage-gated potassium channel activity large_intestine(2)|lung(5)|ovary(2)|skin(1) 10 Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175) Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008) CATTCTGGTTGTCATGTCCTT 0.597000 24 82 2.98393e-07 3.19361e-07 0.016522 1 0 RBKS 64080 broad.mit.edu 37 2 28081341 28081341 + Missense_Mutation SNP C C A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:28081341C>A ENST00000302188.3 - 2 939 c.187G>T c.(187-189)Gct>Tct p.A63S RBKS_ENST00000444339.2_Missense_Mutation_p.A63S NM_022128.1 NP_071411.1 Q9H477 RBSK_HUMAN ribokinase 63 D-ribose metabolic process ATP binding|ribokinase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(172;0.155) CCAAGCCGAGCAGCTTGGACA 0.438000 18 56 5.01169e-05 5.19537e-05 0.004990 1 0 CHAT 1103 broad.mit.edu 37 10 50833611 50833611 + Missense_Mutation SNP T T C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr10:50833611T>C ENST00000395562.2 + 7 1068 c.599T>C c.(598-600)cTc>cCc p.L200P CHAT_ENST00000395559.2_Missense_Mutation_p.L164P|CHAT_ENST00000339797.1_Missense_Mutation_p.L164P|CHAT_ENST00000455728.2_Missense_Mutation_p.L164P|CHAT_ENST00000351556.3_Missense_Mutation_p.L164P|CHAT_ENST00000337653.2_Missense_Mutation_p.L282P NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 282 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) TCCTACCGGCTCCCCGGCCAT 0.592000 10 7 0 0 0.008291 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A rs121913287 TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr3:178916876G>A ENST00000263967.3 + 2 420 c.263G>A c.(262-264)cGa>cAa p.R88Q NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 88 PI3K-ABD. R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.R88Q(53) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAAACAAGACGACTTTGTGAC 0.363000 R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 16 62 0 0 0.024245 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 46000227 46000227 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr21:46000227C>T ENST00000400372.1 - 1 254 c.229G>A c.(229-231)Gct>Act p.A77T TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 77 22 X 5 AA repeats of C-C-X(3). keratin filament endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 gcgcagcaagccggctggcag 0.677000 4 72 0 0 0.012319 0 0 CADPS2 93664 broad.mit.edu 37 7 122111562 122111562 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr7:122111562C>T ENST00000334010.7 - 13 2477 c.2056G>A c.(2056-2058)Ggt>Agt p.G686S CADPS2_ENST00000313070.7_Missense_Mutation_p.G682S|CADPS2_ENST00000449022.2_Missense_Mutation_p.G685S|CADPS2_ENST00000412584.2_Missense_Mutation_p.G682S NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 685 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding p.G685C(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 CCTCTCACACCATAACGGGCA 0.418000 3 10 0 0 0.004672 0 0 HELQ 113510 broad.mit.edu 37 4 84368164 84368164 + Missense_Mutation SNP T T C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr4:84368164T>C ENST00000295488.3 - 4 1378 c.1216A>G c.(1216-1218)Ata>Gta p.I406V HELQ_ENST00000510985.1_Intron NM_133636.2 NP_598375.2 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 406 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 CCGAGTTCTATACCAAAACTT 0.373000 Other identified genes with known or suspected DNA repair function 9 25 0 0 0.004482 0 0 PAQR8 85315 broad.mit.edu 37 6 52268776 52268776 + Silent SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:52268776C>T ENST00000442253.2 + 2 939 c.765C>T c.(763-765)ttC>ttT p.F255F PAQR8_ENST00000360726.3_Silent_p.F255F NM_133367.4 NP_588608.1 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member VIII 255 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) TCCTCTTCTTCCTGGTTAGCG 0.577000 14 55 0 0 0.024245 0 0 MYO18A 399687 broad.mit.edu 37 17 27423781 27423781 + Silent SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr17:27423781C>T ENST00000527372.1 - 28 4563 c.4383G>A c.(4381-4383)agG>agA p.R1461R MYO18A_ENST00000354329.4_Silent_p.R1461R|MYO18A_ENST00000531253.1_Silent_p.R1461R|MYO18A_ENST00000533112.1_Silent_p.R1461R NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 1461 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) CCACCCACCTCCTCTGCTTCT 0.627000 3 10 0 0 0.009096 0 0 ASAP1 50807 broad.mit.edu 37 8 131130412 131130412 + Missense_Mutation SNP T T G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr8:131130412T>G ENST00000357668.1 - 19 1902 c.1875A>C c.(1873-1875)caA>caC p.Q625H ASAP1_ENST00000518721.1_Missense_Mutation_p.Q625H Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 625 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 GATACCAGTTTTGTACAAGGA 0.428000 34 42 0 0 0.007835 0 0 SNAP25 6616 broad.mit.edu 37 20 10256162 10256162 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr20:10256162G>A ENST00000254976.2 + 2 234 c.23G>A c.(22-24)cGc>cAc p.R8H SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000304886.2_Missense_Mutation_p.R8H NM_130811.2 NP_570824.1 P60880 SNP25_HUMAN synaptosomal-associated protein, 25kDa 8 Interaction with CENPF (By similarity). energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 18 Botulinum Toxin Type A(DB00083) GCAGACATGCGCAATGAGCTG 0.602000 7 25 0 0 0.008291 0 0 UTP20 27340 broad.mit.edu 37 12 101748816 101748816 + Missense_Mutation SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr12:101748816A>G ENST00000261637.4 + 41 5488 c.5314A>G c.(5314-5316)Ata>Gta p.I1772V NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 1772 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 CAAGGAAGAAATAGAGAGAAC 0.433000 8 47 0 0 0.004482 0 0 ABCB6 10058 broad.mit.edu 37 2 220080750 220080750 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:220080750G>A ENST00000265316.3 - 5 1439 c.1123C>T c.(1123-1125)Cgg>Tgg p.R375W ABCB6_ENST00000439002.2_Missense_Mutation_p.R329W NM_005689.2 NP_005680.1 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 6 375 ABC transmembrane type-1. cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 34 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GATGTGCCCCGATCCGCGATC 0.687000 4 16 0 0 0.014758 0 0 CEP290 80184 broad.mit.edu 37 12 88480186 88480186 + Missense_Mutation SNP T T C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr12:88480186T>C ENST00000552810.1 - 33 4627 c.4284A>G c.(4282-4284)atA>atG p.I1428M CEP290_ENST00000309041.7_Missense_Mutation_p.I1430M|CEP290_ENST00000547691.2_Missense_Mutation_p.I488M|CEP290_ENST00000397838.3_Missense_Mutation_p.I488M NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 1428 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 CCGCATTTAGTATTTCATTTT 0.363000 5 17 0 0 0.014758 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94897863 94897863 + Splice_Site SNP C C A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr7:94897863C>A ENST00000289495.5 + 11 2817 c.2599_splice c.e11-1 p.D867_splice PPP1R9A_ENST00000424654.1_Splice_Site_p.D867_splice|PPP1R9A_ENST00000340694.4_Splice_Site_p.D867_splice|PPP1R9A_ENST00000433881.1_Splice_Site_p.D867_splice|PPP1R9A_ENST00000433360.1_Splice_Site_p.D889_splice|PPP1R9A_ENST00000456331.2_Splice_Site_p.D867_splice NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 867 Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) TATTCTTAGACTTGAATGAAG 0.443000 HNSCC(28;0.073) 25 48 1.42536e-11 1.57665e-11 0.024334 1 0 ALB 213 broad.mit.edu 37 4 74284002 74284002 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr4:74284002G>A ENST00000295897.4 + 12 1715 c.1626G>A c.(1624-1626)gaG>gaA p.E542E ALB_ENST00000503124.1_Silent_p.E392E|ALB_ENST00000401494.3_Silent_p.E427E|ALB_ENST00000415165.2_Silent_p.E350E|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Silent_p.E542E NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 542 Albumin 3. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) CACTTTCTGAGAAGGAGAGAC 0.388000 12 51 0 0 0.013537 0 0 STK10 6793 broad.mit.edu 37 5 171520586 171520586 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:171520586C>T ENST00000176763.5 - 9 1727 c.1384G>A c.(1384-1386)Ggg>Agg p.G462R NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 462 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGCTTCTCCCCACCCAAGGTC 0.652000 23 96 0 0 0.012319 0 0 IFNA21 3452 broad.mit.edu 37 9 21166295 21166295 + Missense_Mutation SNP T T G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr9:21166295T>G ENST00000380225.1 - 1 364 c.317A>C c.(316-318)gAa>gCa p.E106A NM_002175.2 NP_002166.2 P01568 IFN21_HUMAN interferon, alpha 21 106 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3) 14 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GGAAAATTTTTCTAGGAGGCT 0.498000 45 178 0 0 0.014410 0 0 CPN2 1370 broad.mit.edu 37 3 194061983 194061983 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr3:194061983G>A ENST00000323830.3 - 2 1538 c.1449C>T c.(1447-1449)taC>taT p.Y483Y CPN2_ENST00000429275.1_Silent_p.Y483Y NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 483 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) CGGGGTTGCTGTAGGTGCACT 0.662000 19 37 0 0 0.008871 0 0 OSBPL6 114880 broad.mit.edu 37 2 179197685 179197685 + Nonsense_Mutation SNP A A T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:179197685A>T ENST00000190611.4 + 8 950 c.574A>T c.(574-576)Aga>Tga p.R192* OSBPL6_ENST00000392505.2_Nonsense_Mutation_p.R192*|OSBPL6_ENST00000359685.3_Nonsense_Mutation_p.R192*|OSBPL6_ENST00000357080.4_Nonsense_Mutation_p.R192*|OSBPL6_ENST00000315022.2_Nonsense_Mutation_p.R171*|OSBPL6_ENST00000409631.1_Nonsense_Mutation_p.R192*|OSBPL6_ENST00000409045.3_Nonsense_Mutation_p.R192* NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 192 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) GAGATCACCAAGAGATGCTAG 0.413000 25 71 0 0 0.018920 0 0 IMPDH1 3614 broad.mit.edu 37 7 128038619 128038619 + Missense_Mutation SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr7:128038619G>T ENST00000338791.6 - 10 1273 c.923C>A c.(922-924)gCc>gAc p.A308D IMPDH1_ENST00000480861.1_Missense_Mutation_p.A218D|IMPDH1_ENST00000348127.6_Missense_Mutation_p.A272D|IMPDH1_ENST00000419067.2_Missense_Mutation_p.A275D|IMPDH1_ENST00000470772.1_Missense_Mutation_p.A222D|IMPDH1_ENST00000378717.4_Missense_Mutation_p.A239D|IMPDH1_ENST00000354269.5_Missense_Mutation_p.A298D|IMPDH1_ENST00000343214.4_Missense_Mutation_p.A198D|IMPDH1_ENST00000496200.1_Missense_Mutation_p.A198D NM_000883.3 NP_000874.2 P20839 IMDH1_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 1 223 GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3) 22 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) GTCGGTGCGGGCGATGATGGC 0.577000 OREG0018292 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 111 1.06647e-15 1.22059e-15 0.017118 1 0 WDR19 57728 broad.mit.edu 37 4 39217514 39217514 + Missense_Mutation SNP C C G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr4:39217514C>G ENST00000399820.3 + 11 1169 c.1015C>G c.(1015-1017)Caa>Gaa p.Q339E WDR19_ENST00000288634.7_Missense_Mutation_p.Q179E|WDR19_ENST00000506503.1_Missense_Mutation_p.Q339E NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 339 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 ACTCTCTACCCAAAGGGGCTC 0.448000 20 56 0 0 0.018920 0 0 PBOV1 59351 broad.mit.edu 37 6 138539373 138539373 + Nonsense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:138539373G>A ENST00000527246.2 - 1 254 c.160C>T c.(160-162)Cga>Tga p.R54* KIAA1244_ENST00000251691.4_Intron NM_021635.2 NP_067648.1 Q9GZY1 PBOV1_HUMAN prostate and breast cancer overexpressed 1 54 cytoplasm|nucleus p.R54*(2) endometrium(1) 1 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674) TCTTTTTTTCGAAATACCTtg 0.393000 10 33 0 0 0.006214 0 0 PTX4 390667 broad.mit.edu 37 16 1538463 1538463 + Silent SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr16:1538463C>T ENST00000293922.1 - 1 5 c.6G>A c.(4-6)ggG>ggA p.G2G PTX4_ENST00000447419.2_Intron|PTX4_ENST00000440447.2_Intron NM_001013658.1 NP_001013680.1 Q96A99 PTX4_HUMAN pentraxin 4, long 0 G -> E (in dbSNP:rs2745103). extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 AGTTTCCACTCCCCATGACAC 0.652000 3 33 0 0 0.001984 0 0 TAS2R7 50837 broad.mit.edu 37 12 10954990 10954990 + Silent SNP G G A rs141765045 TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr12:10954990G>A ENST00000240687.2 - 1 236 c.180C>T c.(178-180)tgC>tgT p.C60C NM_023919.2 NP_076408.1 Q9NYW3 TA2R7_HUMAN taste receptor, type 2, member 7 60 sensory perception of taste integral to membrane taste receptor activity kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3) 10 ATAGTATTACGCACAATAGAC 0.378000 26 64 0 0 0.024334 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952072 178952072 + Missense_Mutation SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr3:178952072A>G ENST00000263967.3 + 21 3284 c.3127A>G c.(3127-3129)Atg>Gtg p.M1043V NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1043 PI3K/PI4K. M -> I (in cancer; shows an increase in lipid kinase activity). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.M1043V(22) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CATGAAACAAATGAATGATGC 0.368000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 14 42 0 0 0.020292 0 0 CLEC16A 23274 broad.mit.edu 37 16 11114117 11114117 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr16:11114117G>A ENST00000409790.1 + 12 1601 c.1371G>A c.(1369-1371)gaG>gaA p.E457E CLEC16A_ENST00000409552.3_Silent_p.E439E NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 457 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CCGTGCAGGAGCAGAACACCA 0.597000 11 28 0 0 0.010729 0 0 DCAF6 55827 broad.mit.edu 37 1 168014380 168014380 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:168014380G>A ENST00000367840.3 + 16 2267 c.2173G>A c.(2173-2175)Gac>Aac p.D725N DCAF6_ENST00000312263.6_Missense_Mutation_p.D648N|DCAF6_ENST00000367843.3_Missense_Mutation_p.D668N|DCAF6_ENST00000432587.2_Missense_Mutation_p.D694N NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 648 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 ATCCACCAGGGACTCTGCTCT 0.483000 13 28 0 0 0.020292 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171774317 171774317 + Silent SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:171774317C>T ENST00000311601.5 - 11 1202 c.1032G>A c.(1030-1032)caG>caA p.Q344Q SH3PXD2B_ENST00000519643.1_Silent_p.Q344Q NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 344 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GAGGGGGTCTCTGCCTCATCT 0.542000 11 79 0 0 0.020292 0 0 EP300 2033 broad.mit.edu 37 22 41566460 41566460 + Missense_Mutation SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr22:41566460A>G ENST00000263253.7 + 27 5556 c.4337A>G c.(4336-4338)tAt>tGt p.Y1446C RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1446 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 GGAGATGATTATATCTTCCAT 0.408000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 52 72 0 0 0.014410 0 0 ZBTB8A 653121 broad.mit.edu 37 1 33059296 33059296 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:33059296C>T ENST00000373510.4 + 3 993 c.764C>T c.(763-765)tCt>tTt p.S255F ZBTB8A_ENST00000316459.4_Missense_Mutation_p.S255F|RP1-27O5.3_ENST00000480336.1_3'UTR NM_001040441.1 NP_001035531.1 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 255 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(2)|lung(2)|prostate(1) 7 GAAATGGACTCTACTCCTGTT 0.438000 16 45 0 0 0.006122 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25258086 25258086 + Silent SNP G G A rs149172025 by1000genomes TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr16:25258086G>A ENST00000328086.7 - 5 2234 c.1431C>T c.(1429-1431)atC>atT p.I477I NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 477 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) GGATAAATTCGATGCCTATTT 0.448000 28 92 0 0 0.010818 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 46000228 46000228 + Silent SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr21:46000228C>T ENST00000400372.1 - 1 253 c.228G>A c.(226-228)ccG>ccA p.P76P TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 76 22 X 5 AA repeats of C-C-X(3). keratin filament endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 cgcagcaagccggctggcagc 0.677000 4 71 0 0 0.012319 0 0 LPP 4026 broad.mit.edu 37 3 188242516 188242516 + Silent SNP T T C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr3:188242516T>C ENST00000312675.4 + 5 616 c.370T>C c.(370-372)Ttg>Ctg p.L124L LPP_ENST00000448637.1_Silent_p.L124L|LPP_ENST00000543006.1_Silent_p.L124L NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 124 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) GATTGACTCCTTGACCAGCAT 0.547000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 42 100 0 0 0.009718 0 0 GRM4 2914 broad.mit.edu 37 6 34029792 34029792 + Silent SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:34029792G>T ENST00000374181.3 - 3 919 c.750C>A c.(748-750)atC>atA p.I250I GRM4_ENST00000374177.3_Silent_p.I181I|GRM4_ENST00000538487.1_Silent_p.I250I|GRM4_ENST00000535756.1_Silent_p.I117I|GRM4_ENST00000544773.1_Silent_p.I81I|GRM4_ENST00000455714.2_Silent_p.I110I|GRM4_ENST00000545715.1_5'UTR NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 250 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CCGACTGGGCGATGCACACGC 0.627000 26 28 1.66031e-10 1.82634e-10 0.021523 1 0 GCK 2645 broad.mit.edu 37 7 44187277 44187277 + Missense_Mutation SNP C C T rs104894005 byFrequency TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr7:44187277C>T ENST00000403799.3 - 7 1304 c.835G>A c.(835-837)Gag>Aag p.E279K GCK_ENST00000395796.3_Missense_Mutation_p.E278K|GCK_ENST00000345378.2_Missense_Mutation_p.E280K|GCK_ENST00000437084.1_Missense_Mutation_p.E262K NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) 279 E -> Q (in MODY2). cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 GCAGAGCTCTCGTCCACCAGG 0.692000 23 62 0 0 0.027356 0 0 SLC15A3 51296 broad.mit.edu 37 11 60709581 60709581 + Missense_Mutation SNP G G C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr11:60709581G>C ENST00000227880.3 - 4 1266 c.1033C>G c.(1033-1035)Cac>Gac p.H345D NM_016582.2 NP_057666.1 Q8IY34 S15A3_HUMAN solute carrier family 15 (oligopeptide transporter), member 3 345 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2) 17 TTTGGGATGTGGAGGTGAAGA 0.577000 33 111 0 0 0.017118 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144931233 144931233 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:144931233C>T ENST00000529945.1 - 1 915 c.476G>A c.(475-477)gGc>gAc p.G159D PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.G159D Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTTTCCAGGGCCTTCTGAACC 0.552000 T PDGFRB MPD 22 159 0 0 0.018920 0 0 CNNM2 54805 broad.mit.edu 37 10 104835934 104835934 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr10:104835934G>A ENST00000369878.3 + 7 2449 c.2325G>A c.(2323-2325)ctG>ctA p.L775L CNNM2_ENST00000457502.2_Silent_p.L533L|CNNM2_ENST00000433628.2_Silent_p.L753L|CNNM2_ENST00000475511.1_3'UTR NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 775 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CACCAACACTGGGGAGCAGCA 0.527000 3 12 0 0 0.004672 0 0 LTBP1 4052 broad.mit.edu 37 2 33540271 33540271 + Missense_Mutation SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:33540271A>G ENST00000404816.2 + 24 4018 c.3665A>G c.(3664-3666)gAg>gGg p.E1222G LTBP1_ENST00000404525.1_Missense_Mutation_p.E843G|LTBP1_ENST00000402934.1_Missense_Mutation_p.E843G|LTBP1_ENST00000390003.4_Missense_Mutation_p.E897G|LTBP1_ENST00000418533.2_Missense_Mutation_p.E896G|LTBP1_ENST00000407925.1_Missense_Mutation_p.E896G|LTBP1_ENST00000272273.5_Missense_Mutation_p.E162G|LTBP1_ENST00000354476.3_Missense_Mutation_p.E1223G Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1222 EGF-like 12; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CTAAACACAGAGGGTTCTTTC 0.408000 11 44 0 0 0.010729 0 0 DNMT3B 1789 broad.mit.edu 37 20 31395666 31395666 + Missense_Mutation SNP G G A rs121908946 TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr20:31395666G>A ENST00000328111.2 + 23 2840 c.2519G>A c.(2518-2520)cGa>cAa p.R840Q DNMT3B_ENST00000344505.4_Silent_p.P780P|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R715Q|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R832Q|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R681Q|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R757Q|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R820Q NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 840 R -> Q (in ICF). negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCTGTCATCCGACACCTCTTC 0.602000 35 106 0 0 0.015359 0 0 ZC3H4 23211 broad.mit.edu 37 19 47570458 47570458 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr19:47570458C>T ENST00000253048.5 - 15 3104 c.3067G>A c.(3067-3069)Gcc>Acc p.A1023T ZC3H4_ENST00000594019.1_5'UTR NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 1023 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) CGCTGCCGGGCGTTGGGGGGC 0.706000 13 24 0 0 0.028581 0 0 GNPTAB 79158 broad.mit.edu 37 12 102153816 102153816 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr12:102153816G>A ENST00000299314.7 - 16 3503 c.3241C>T c.(3241-3243)Ccc>Tcc p.P1081S NM_024312.4 NP_077288.2 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 1081 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 37 ACCAGGTTGGGATCATAGTAG 0.388000 15 47 0 0 0.024245 0 0 CREBBP 1387 broad.mit.edu 37 16 3781253 3781253 + Silent SNP G G C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr16:3781253G>C ENST00000262367.5 - 30 5921 c.5112C>G c.(5110-5112)gtC>gtG p.V1704V CREBBP_ENST00000382070.3_Silent_p.V1666V NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1704 Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TGCAGGTGTAGACAAAGCGGT 0.662000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 13 57 0 0 0.020292 0 0 SLC3A1 6519 broad.mit.edu 37 2 44528282 44528282 + Silent SNP T T C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:44528282T>C ENST00000410056.3 + 6 1152 c.1152T>C c.(1150-1152)taT>taC p.Y384Y SLC3A1_ENST00000409387.1_Intron|SLC3A1_ENST00000409380.1_Intron|SLC3A1_ENST00000409294.1_Intron|SLC3A1_ENST00000409741.1_Intron|SLC3A1_ENST00000260649.6_Intron|SLC3A1_ENST00000409229.3_Intron Q07837 SLC31_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 1 386 carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) CCACGGCATATGCTCTCATTT 0.512000 6 31 0 0 0.021553 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94898583 94898583 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr7:94898583C>T ENST00000289495.5 + 12 2984 c.2768C>T c.(2767-2769)aCg>aTg p.T923M PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T941M|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T963M|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T941M NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 923 Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) GGTTTGAGAACGTCTTCTCCA 0.433000 HNSCC(28;0.073) 18 32 0 0 0.010504 0 0 SLC6A13 6540 broad.mit.edu 37 12 330578 330578 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr12:330578G>A ENST00000343164.4 - 14 1702 c.1650C>T c.(1648-1650)ctC>ctT p.L550L SLC6A13_ENST00000445055.2_Silent_p.L458L NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 550 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) CGAGTCTGTAGAGGCTCCAGG 0.632000 8 15 0 0 0.004482 0 0 TRIM71 131405 broad.mit.edu 37 3 32931915 32931915 + Missense_Mutation SNP A A C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr3:32931915A>C ENST00000383763.4 + 4 1282 c.1219A>C c.(1219-1221)Aac>Cac p.N407H NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 407 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GCTGCGGCAAAACCTCAACAA 0.567000 27 83 0 0 0.024334 0 0 GRIK5 2901 broad.mit.edu 37 19 42546827 42546827 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr19:42546827C>T ENST00000262895.3 - 11 1349 c.1350G>A c.(1348-1350)atG>atA p.M450I GRIK5_ENST00000301218.4_Missense_Mutation_p.M450I|GRIK5_ENST00000593562.1_Missense_Mutation_p.M450I NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 450 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) GCTCCCGCAGCATGTCCACGC 0.677000 14 25 0 0 0.016723 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296440 145296440 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:145296440G>A ENST00000342960.5 + 3 397 c.362G>A c.(361-363)cGc>cAc p.R121H RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 121 p.R121H(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GATGCCTCCCGCTCATTGTAT 0.562000 6 290 0 0 0.001984 0 0 TBC1D32 221322 broad.mit.edu 37 6 121600349 121600349 + Missense_Mutation SNP C C A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:121600349C>A ENST00000275159.6 - 15 1650 c.1651G>T c.(1651-1653)Ggt>Tgt p.G551C TBC1D32_ENST00000398212.2_Missense_Mutation_p.G551C TBC1 domain family, member 32 GCCAAAATACCAGCTATATGA 0.323000 18 72 1.02788e-11 1.14338e-11 0.004990 1 0 KCNT2 343450 broad.mit.edu 37 1 196309633 196309633 + Nonsense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:196309633G>A ENST00000367433.5 - 16 1722 c.1621C>T c.(1621-1623)Cga>Tga p.R541* KCNT2_ENST00000367431.4_Nonsense_Mutation_p.R491*|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Nonsense_Mutation_p.R152*|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.R541* Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 541 RCK N-terminal. voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 ATAATGTATCGAGGACCTGGA 0.323000 21 53 0 0 0.016522 0 0 DCHS1 8642 broad.mit.edu 37 11 6653621 6653621 + Missense_Mutation SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr11:6653621G>T ENST00000299441.3 - 6 3533 c.3122C>A c.(3121-3123)gCa>gAa p.A1041E RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1041 Cadherin 10. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGGCTACTTGCTCCCTCTGC 0.597000 15 38 2.23348e-06 2.35229e-06 0.028581 1 0 PCDHA7 56141 broad.mit.edu 37 5 140215783 140215783 + Silent SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:140215783G>T ENST00000525929.1 + 1 1815 c.1815G>T c.(1813-1815)gcG>gcT p.A605A PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.A605A|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTACAACGCGTGGCTTTCGT 0.637000 31 83 5.60225e-13 6.33854e-13 0.009535 1 0 MARS2 92935 broad.mit.edu 37 2 198571571 198571571 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:198571571G>A ENST00000282276.6 + 1 1485 c.1442G>A c.(1441-1443)cGg>cAg p.R481Q AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 481 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) AGCTGTGTCCGGCAAACTAAT 0.542000 32 104 0 0 0.008361 0 0 METTL21C 196541 broad.mit.edu 37 13 103343240 103343240 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr13:103343240C>T ENST00000267273.6 - 2 210 c.205G>A c.(205-207)Gag>Aag p.E69K NM_001010977.1 NP_001010977.1 Q5VZV1 MT21C_HUMAN methyltransferase like 21C 69 methyltransferase activity breast(1)|large_intestine(3)|lung(2)|skin(1) 7 CGATAATGCTCCTGAGTGTAG 0.448000 25 56 0 0 0.027356 0 0 ZNF443 10224 broad.mit.edu 37 19 12541096 12541096 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr19:12541096G>A ENST00000301547.5 - 4 2087 c.1890C>T c.(1888-1890)tcC>tcT p.S630S CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 630 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 GTCTATGCAAGGAACTGAGAG 0.403000 22 96 0 0 0.010818 0 0 FAM184A 79632 broad.mit.edu 37 6 119341157 119341157 + Missense_Mutation SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:119341157G>T ENST00000338891.7 - 4 1761 c.1318C>A c.(1318-1320)Cta>Ata p.L440I RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.L320I|FAM184A_ENST00000522284.1_Missense_Mutation_p.L320I|FAM184A_ENST00000352896.5_Missense_Mutation_p.L320I|FAM184A_ENST00000521531.1_Missense_Mutation_p.L440I NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 440 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 TCCAGTTCTAGAATCTGTTGC 0.388000 25 58 3.65163e-15 4.1553e-15 0.006320 1 0 PUS7 54517 broad.mit.edu 37 7 105099648 105099648 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr7:105099648G>A ENST00000356362.2 - 15 2030 c.1816C>T c.(1816-1818)Cta>Tta p.L606L PUS7_ENST00000469408.1_Silent_p.L606L NM_019042.3 NP_061915.2 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae) 606 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1) 23 TTCCCTTCTAGGTTGTCCACA 0.348000 14 41 0 0 0.024245 0 0 PDGFRA 5156 broad.mit.edu 37 4 55141026 55141026 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr4:55141026C>T ENST00000257290.5 + 12 2003 c.1672C>T c.(1672-1674)Cgc>Tgc p.R558C FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 558 cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GTATGAAATTCGCTGGAGGGT 0.463000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 22 50 0 0 0.016522 0 0 FES 2242 broad.mit.edu 37 15 91433462 91433462 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr15:91433462C>T ENST00000328850.3 + 9 1332 c.1190C>T c.(1189-1191)cCg>cTg p.P397L FES_ENST00000450438.2_Missense_Mutation_p.P339L|FES_ENST00000414248.2_Missense_Mutation_p.P339L|FES_ENST00000394302.1_Missense_Mutation_p.P339L|FES_ENST00000448367.1_3'UTR|FES_ENST00000444422.2_Missense_Mutation_p.P397L|FES_ENST00000394300.3_Missense_Mutation_p.P339L NM_002005.3 NP_001996.1 P07332 FES_HUMAN feline sarcoma oncogene 397 axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GGCGAGCCCCCGCCTGTGCTG 0.726000 11 22 0 0 0.016723 0 0 MARK1 4139 broad.mit.edu 37 1 220805593 220805593 + Missense_Mutation SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:220805593A>G ENST00000402574.1 + 11 1657 c.655A>G c.(655-657)Ata>Gta p.I219V MARK1_ENST00000366917.4_Missense_Mutation_p.I354V|MARK1_ENST00000366918.4_Missense_Mutation_p.I332V NM_018650.3 NP_061120.3 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 354 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) TGATGCCTTAATAAATCAGAA 0.299000 70 218 0 0 0.014410 0 0 SH2D4B 387694 broad.mit.edu 37 10 82403807 82403807 + Missense_Mutation SNP A A C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr10:82403807A>C ENST00000470604.2 + 8 1262 c.1262A>C c.(1261-1263)gAc>gCc p.D421A SH2D4B_ENST00000339284.2_Silent_p.G348G|SH2D4B_ENST00000372150.3_3'UTR|SH2D4B_ENST00000313455.4_Silent_p.G300G Q5SQS7 SH24B_HUMAN SH2 domain containing 4B 421 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6) 13 Colorectal(32;0.229) GGACAGAGGGACAGCCCACCA 0.373000 9 36 0 0 0.016723 0 0 B3GNT7 93010 broad.mit.edu 37 2 232262638 232262638 + Missense_Mutation SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:232262638G>T ENST00000287590.5 + 2 469 c.208G>T c.(208-210)Gcg>Tcg p.A70S B3GNT7_ENST00000479618.1_3'UTR NM_145236.2 NP_660279.1 Q8NFL0 B3GN7_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 70 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1) 17 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) AGATGTGGCTGCGCCCACGCC 0.617000 10 35 2.17888e-05 2.27062e-05 0.006214 1 0 DHX15 1665 broad.mit.edu 37 4 24550530 24550530 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr4:24550530C>T ENST00000336812.4 - 6 1352 c.1196G>A c.(1195-1197)cGc>cAc p.R399H NM_001358.2 NP_001349.2 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 15 399 Helicase C-terminal. mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 30 Breast(46;0.0503) CTCAAAAATGCGTTGCTGCTG 0.363000 11 37 0 0 0.008291 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 8 67 0 0 0.006214 0 0 GOLGA1 2800 broad.mit.edu 37 9 127650556 127650556 + Missense_Mutation SNP C C A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr9:127650556C>A ENST00000373555.4 - 19 2214 c.1881G>T c.(1879-1881)gaG>gaT p.E627D NM_002077.3 NP_002068.1 Q92805 GOGA1_HUMAN golgin A1 627 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 GAAGTTGCTGCTCCAAGTCCT 0.512000 41 250 1.48646e-12 1.67227e-12 0.010771 1 0 CD226 10666 broad.mit.edu 37 18 67563082 67563082 + Missense_Mutation SNP T T A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr18:67563082T>A ENST00000280200.4 - 4 850 c.582A>T c.(580-582)caA>caT p.Q194H CD226_ENST00000577287.1_Missense_Mutation_p.Q39H|CD226_ENST00000582621.1_Missense_Mutation_p.Q194H|CD226_ENST00000581982.1_Missense_Mutation_p.Q39H NM_006566.2 NP_006557.2 Q15762 CD226_HUMAN CD226 molecule 194 Ig-like C2-type 2. cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) TGCTCACTATTTGTCTTGGGA 0.542000 41 75 0 0 0.009718 0 0 NACAP1 83955 broad.mit.edu 37 8 102381119 102381119 + RNA SNP T T A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr8:102381119T>A ENST00000419462.1 + 0 531 NR_002182.1 CCATCTTGATTCCACGTTCCC 0.547000 5 16 0 0 0.014758 0 0 ACAN 176 broad.mit.edu 37 15 89398654 89398654 + Silent SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr15:89398654C>T ENST00000439576.2 + 12 3212 c.2838C>T c.(2836-2838)ggC>ggT p.G946G ACAN_ENST00000352105.7_Silent_p.G946G|ACAN_ENST00000561243.1_Silent_p.G946G|ACAN_ENST00000559004.1_Silent_p.G946G NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 946 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TCCTAGAGGGCTCTGCCTCTG 0.557000 21 63 0 0 0.010504 0 0 WASF3 10810 broad.mit.edu 37 13 27257005 27257005 + Silent SNP G G A rs148684191 TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr13:27257005G>A ENST00000361042.4 + 9 1461 c.1236G>A c.(1234-1236)tcG>tcA p.S412S WASF3_ENST00000335327.5_Silent_p.S415S Q9UPY6 WASF3_HUMAN WAS protein family, member 3 415 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CTTCTCTTTCGTCCTCCCCAA 0.677000 27 91 0 0 0.024334 0 0 CPT2 1376 broad.mit.edu 37 1 53675843 53675843 + Missense_Mutation SNP T T A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:53675843T>A ENST00000371486.3 + 4 1012 c.497T>A c.(496-498)cTc>cAc p.L166H NM_000098.2 NP_000089.1 P23786 CPT2_HUMAN carnitine palmitoyltransferase 2 166 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation mitochondrial inner membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 15 L-Carnitine(DB00583)|Perhexiline(DB01074) CTGAAGACACTCCGGGCTGGC 0.493000 21 51 0 0 0.014323 0 0 TAP2 6891 broad.mit.edu 37 6 32782192 32782192 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:32782192G>A ENST00000452392.2 - 14 2542 c.2369C>T c.(2368-2370)aCt>aTt p.T790I HLA-DOB_ENST00000438763.2_Missense_Mutation_p.T183I Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 0 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding CATCACCACAGTCTGAAAGGT 0.532000 33 88 0 0 0.017118 0 0 FAM83B 222584 broad.mit.edu 37 6 54735396 54735396 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:54735396G>A ENST00000306858.7 + 2 468 c.352G>A c.(352-354)Ggc>Agc p.G118S NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 118 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) ACTCTTAGGGGGCACCCATAT 0.433000 32 93 0 0 0.013726 0 0 EPHA8 2046 broad.mit.edu 37 1 22923821 22923821 + Silent SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:22923821C>T ENST00000166244.3 + 10 1854 c.1782C>T c.(1780-1782)ttC>ttT p.F594F NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 594 integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CACCTGTCTTCCTGCCTCTGC 0.657000 15 48 0 0 0.020292 0 0 OR2L13 284521 broad.mit.edu 37 1 248262997 248262997 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:248262997C>T ENST00000366478.2 + 3 657 c.320C>T c.(319-321)gCg>gTg p.A107V OR2L13_ENST00000358120.2_Missense_Mutation_p.A107V NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding p.A107V(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CTGACCATGGCGTGTTCTGAA 0.517000 66 224 0 0 0.014410 0 0 ZNF460 10794 broad.mit.edu 37 19 57803220 57803220 + Missense_Mutation SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr19:57803220G>T ENST00000360338.3 + 3 1633 c.1311G>T c.(1309-1311)agG>agT p.R437S ZNF460_ENST00000537645.1_Missense_Mutation_p.R396S NM_006635.3 NP_006626.3 Q14592 ZN460_HUMAN zinc finger protein 460 437 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R437S(1) breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGCTCACAAGGCACCAGTGGA 0.478000 17 48 1.99824e-07 2.15028e-07 0.004990 1 0 RAB40C 57799 broad.mit.edu 37 16 640410 640410 + Missense_Mutation SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr16:640410A>G ENST00000535977.1 + 2 341 c.119A>G c.(118-120)gAg>gGg p.E40G RAB40C_ENST00000248139.3_Missense_Mutation_p.E40G|RAB40C_ENST00000539661.1_Missense_Mutation_p.E40G|RAB40C_ENST00000538492.1_Missense_Mutation_p.E40G NM_001172663.1 NP_001166134.1 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 40 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) GGCGCGGCAGAGTCCCCGTAC 0.716000 7 24 0 0 0.001984 0 0 LIN28B 389421 broad.mit.edu 37 6 105406144 105406144 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:105406144G>A ENST00000345080.4 + 2 384 c.181G>A c.(181-183)Gat>Aat p.D61N NM_001004317.3 NP_001004317.1 Q6ZN17 LN28B_HUMAN lin-28 homolog B (C. elegans) 61 CSD. miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing cytoplasm|nucleus DNA binding|protein binding|RNA binding|zinc ion binding large_intestine(1)|lung(10)|ovary(1) 12 all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204) TATTCCAGTCGATGTATTTGT 0.458000 39 114 0 0 0.027894 0 0 DOCK1 1793 broad.mit.edu 37 10 129216755 129216755 + Missense_Mutation SNP A A T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr10:129216755A>T ENST00000280333.6 + 45 4688 c.4579A>T c.(4579-4581)Aac>Tac p.N1527Y NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1527 DHR-2. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CATGCTCCTGAACGGCATCGT 0.602000 7 26 0 0 0.004482 0 0 IGSF9 57549 broad.mit.edu 37 1 159907550 159907550 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:159907550C>T ENST00000368094.1 - 4 523 c.326G>A c.(325-327)cGc>cAc p.R109H IGSF9_ENST00000361509.3_Missense_Mutation_p.R109H NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 109 Ig-like 1. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GAAGAACACGCGGCACTCGTA 0.602000 18 60 0 0 0.007413 0 0 MIB1 57534 broad.mit.edu 37 18 19379870 19379870 + Missense_Mutation SNP G G C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr18:19379870G>C ENST00000261537.6 + 9 1570 c.1306G>C c.(1306-1308)Gtt>Ctt p.V436L MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 436 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) TGAAGAATTAGTTAAGGCTGC 0.348000 21 55 0 0 0.012319 0 0 SERPINE2 5270 broad.mit.edu 37 2 224866605 224866605 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:224866605G>A ENST00000409840.3 - 3 673 c.13C>T c.(13-15)Ctc>Ttc p.L5F SERPINE2_ENST00000409304.1_Missense_Mutation_p.L5F|SERPINE2_ENST00000447280.2_Missense_Mutation_p.L17F|SERPINE2_ENST00000258405.4_Missense_Mutation_p.L5F P07093 GDN_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 5 negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule heparin binding|receptor binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 17 Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797) Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902) AAGAGGGGGAGATGCCAGTTC 0.443000 33 66 0 0 0.013726 0 0 ERBB4 2066 broad.mit.edu 37 2 212295727 212295727 + Missense_Mutation SNP A A C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:212295727A>C ENST00000342788.4 - 21 2896 c.2586T>G c.(2584-2586)ttT>ttG p.F862L ERBB4_ENST00000402597.1_Missense_Mutation_p.F852L|ERBB4_ENST00000436443.1_Missense_Mutation_p.F862L NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 862 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TGGCTAGCCCAAAATCTGTGA 0.418000 TSP Lung(8;0.080) 3 104 0 0 0.004672 0 0 CARD11 84433 broad.mit.edu 37 7 2946386 2946386 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr7:2946386G>A ENST00000396946.4 - 25 3754 c.3351C>T c.(3349-3351)taC>taT p.Y1117Y NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 1117 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity p.Y1110Y(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CCACCGTGGCGTACAGGCACG 0.647000 Mis DLBCL 9 30 0 0 0.006214 0 0 ZNF99 7652 broad.mit.edu 37 19 22941426 22941426 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr19:22941426C>T ENST00000397104.3 - 5 1011 c.1012G>A c.(1012-1014)Gaa>Aaa p.E338K ZNF99_ENST00000596209.1_Missense_Mutation_p.E429K zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TTGCCACATTCTTCACATTTG 0.373000 13 47 0 0 0.016723 0 0 GEMIN4 50628 broad.mit.edu 37 17 649755 649755 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr17:649755C>T ENST00000576778.1 - 1 2836 c.1495G>A c.(1495-1497)Ggc>Agc p.G499S GEMIN4_ENST00000319004.5_Missense_Mutation_p.G510S P57678 GEMI4_HUMAN gem (nuclear organelle) associated protein 4 510 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) TCAGAGAGGCCCTTTCGCCCC 0.527000 14 25 0 0 0.028581 0 0 IGDCC3 9543 broad.mit.edu 37 15 65621833 65621833 + Silent SNP T T G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr15:65621833T>G ENST00000327987.4 - 13 2351 c.2100A>C c.(2098-2100)ggA>ggC p.G700G NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 700 breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GGCCCCGCTGTCCCCGTCTCG 0.647000 33 59 0 0 0.013726 0 0 TRPV4 59341 broad.mit.edu 37 12 110240837 110240837 + Missense_Mutation SNP C C A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr12:110240837C>A ENST00000418703.2 - 3 765 c.671G>T c.(670-672)aGg>aTg p.R224M TRPV4_ENST00000261740.2_Missense_Mutation_p.R224M|TRPV4_ENST00000346520.2_Missense_Mutation_p.R224M|TRPV4_ENST00000536838.1_Missense_Mutation_p.R190M|TRPV4_ENST00000537083.1_Missense_Mutation_p.R224M|TRPV4_ENST00000392719.2_Missense_Mutation_p.R224M|TRPV4_ENST00000544971.1_Missense_Mutation_p.R224M|TRPV4_ENST00000541794.1_Missense_Mutation_p.R224M NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 224 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 AATGAACTCCCTCATGTTGCC 0.632000 15 29 4.7546e-09 5.17259e-09 0.028581 1 0 ASAH2B 653308 broad.mit.edu 37 10 52502706 52502706 + Missense_Mutation SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr10:52502706A>G ENST00000374006.1 + 2 87 c.22A>G c.(22-24)Atg>Gtg p.M8V ASAH2B_ENST00000185907.9_5'UTR|ASAH2B_ENST00000374007.1_5'UTR|ASAH2B_ENST00000483649.1_3'UTR NM_001079516.1 NP_001072984.1 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B 0 apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity large_intestine(2)|lung(2) 4 TCGACAATTTATGGACCGCAC 0.448000 58 176 0 0 0.014410 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 9 78 0 0 0.013537 0 0 ATRIP 84126 broad.mit.edu 37 3 48501802 48501802 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr3:48501802C>T ENST00000412052.1 + 8 1532 c.1070C>T c.(1069-1071)cCg>cTg p.P357L ATRIP_ENST00000357105.6_Missense_Mutation_p.P323L|ATRIP_ENST00000346691.4_Missense_Mutation_p.P450L|ATRIP_ENST00000320211.3_Missense_Mutation_p.P450L NM_001271023.1 NP_001257952.1 Q8WXE1 ATRIP_HUMAN ATR interacting protein 450 DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1) 22 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGGGACTCACCGACACATTCC 0.562000 Other conserved DNA damage response genes 15 59 0 0 0.020292 0 0 SETD2 29072 broad.mit.edu 37 3 47163558 47163558 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr3:47163558G>A ENST00000409792.3 - 3 2610 c.2568C>T c.(2566-2568)atC>atT p.I856I NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 856 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TAGTGCTACCGATGCTCTGCT 0.358000 """N, F, S, Mis""" clear cell renal carcinoma 13 42 0 0 0.024245 0 0 SPPL3 121665 broad.mit.edu 37 12 121206162 121206162 + Missense_Mutation SNP G G C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr12:121206162G>C ENST00000353487.2 - 8 1242 c.739C>G c.(739-741)Cgc>Ggc p.R247G NM_139015.4 NP_620584.2 Q8TCT6 PSL4_HUMAN signal peptide peptidase like 3 248 integral to membrane aspartic-type endopeptidase activity all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGAGACAGGCGAGGAACATCA 0.562000 26 99 0 0 0.027356 0 0 GPAA1 8733 broad.mit.edu 37 8 145139718 145139718 + Silent SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr8:145139718C>T ENST00000355091.4 + 8 1225 c.1104C>T c.(1102-1104)ttC>ttT p.F368F GPAA1_ENST00000361036.6_Silent_p.F308F NM_003801.3 NP_003792.1 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 1 368 attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2) 19 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCTCCCGCTTCGTCTCCATCG 0.607000 83 93 0 0 0.014410 0 0 BDH2 56898 broad.mit.edu 37 4 104017355 104017355 + Silent SNP G G C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr4:104017355G>C ENST00000296424.4 - 2 177 c.57C>G c.(55-57)ggC>ggG p.G19G NM_020139.3 NP_064524.3 Q9BUT1 BDH2_HUMAN 3-hydroxybutyrate dehydrogenase, type 2 19 fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process cytoplasm 3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.02e-08) CAGCTGCTTGGCCAATCCCCT 0.423000 11 24 0 0 0.013537 0 0 MFHAS1 9258 broad.mit.edu 37 8 8749414 8749414 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr8:8749414G>A ENST00000276282.6 - 1 1741 c.1155C>T c.(1153-1155)tgC>tgT p.C385C NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 385 endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) TCCCCTTCATGCAGACCTCGT 0.617000 22 19 0 0 0.012319 0 0 SDHAP1 255812 broad.mit.edu 37 3 195711423 195711423 + RNA SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr3:195711423A>G ENST00000427841.1 - 0 524 NR_003264.2 CTCTTGTACTAGAAACAGACC 0.552000 3 45 0 0 0.014758 0 0 DPP10 57628 broad.mit.edu 37 2 116503737 116503737 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:116503737C>T ENST00000410059.1 + 10 1408 c.928C>T c.(928-930)Cca>Tca p.P310S DPP10_ENST00000310323.8_Missense_Mutation_p.P303S|DPP10_ENST00000393147.2_Missense_Mutation_p.P314S|DPP10_ENST00000409163.1_Missense_Mutation_p.P260S NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 310 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 GGAGCTCATGCCACCTGACAG 0.343000 3 40 0 0 0.009096 0 0 OR5H2 79310 broad.mit.edu 37 3 98001947 98001947 + Silent SNP C C G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr3:98001947C>G ENST00000355273.2 + 1 216 c.216C>G c.(214-216)gcC>gcG p.A72A RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 GGAGTTTAGCCTTTGTTGATG 0.393000 50 210 0 0 0.014410 0 0 KIAA1522 57648 broad.mit.edu 37 1 33235677 33235677 + Silent SNP C C G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:33235677C>G ENST00000401073.2 + 6 967 c.897C>G c.(895-897)gtC>gtG p.V299V KIAA1522_ENST00000373481.3_Silent_p.V251V|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Silent_p.V240V NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 240 breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) TTGACCGTGTCTACCGGGATG 0.682000 19 47 0 0 0.012319 0 0 ZNF440 126070 broad.mit.edu 37 19 11942501 11942501 + Silent SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr19:11942501A>G ENST00000304060.5 + 4 674 c.510A>G c.(508-510)aaA>aaG p.K170K NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CTGGAGAGAAACCCAATGCTT 0.413000 54 103 0 0 0.014410 0 0 SLC4A10 57282 broad.mit.edu 37 2 162696359 162696359 + Missense_Mutation SNP T T A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:162696359T>A ENST00000375514.5 + 5 658 c.371T>A c.(370-372)aTt>aAt p.I124N SLC4A10_ENST00000535165.1_Missense_Mutation_p.I113N|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.I113N|SLC4A10_ENST00000415876.2_Missense_Mutation_p.I113N|SLC4A10_ENST00000446997.1_Missense_Mutation_p.I113N|SLC4A10_ENST00000272716.5_Missense_Mutation_p.I113N NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 113 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GAGGAACACATTCCTCATGAC 0.438000 19 57 0 0 0.006122 0 0 NFATC1 4772 broad.mit.edu 37 18 77208983 77208983 + Splice_Site SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr18:77208983G>A ENST00000253506.5 + 4 1957 c.1589_splice c.e4+1 p.V530_splice NFATC1_ENST00000545796.1_Splice_Site_p.V58_splice|NFATC1_ENST00000542384.1_Splice_Site_p.V530_splice|NFATC1_ENST00000318065.5_Splice_Site_p.V517_splice|NFATC1_ENST00000427363.2_Splice_Site_p.V530_splice|NFATC1_ENST00000397790.2_Splice_Site_p.V58_splice|NFATC1_ENST00000587635.1_Splice_Site_p.V530_splice|NFATC1_ENST00000592223.1_Splice_Site_p.V517_splice|NFATC1_ENST00000591814.1_Splice_Site_p.V530_splice|NFATC1_ENST00000329101.4_Splice_Site_p.V517_splice|NFATC1_ENST00000586434.1_Splice_Site_p.V517_splice NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 530 RHD. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CATGCGAGCCGTGTAAGCCGC 0.687000 8 27 0 0 0.010729 0 0 EPS15L1 58513 broad.mit.edu 37 19 16552783 16552783 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr19:16552783C>T ENST00000597937.1 - 3 89 c.85G>A c.(85-87)Gca>Aca p.A29T EPS15L1_ENST00000535753.2_Missense_Mutation_p.A29T|EPS15L1_ENST00000248070.6_Missense_Mutation_p.A29T|EPS15L1_ENST00000594975.1_Missense_Mutation_p.A29T|CTD-2013N17.4_ENST00000587343.1_RNA|EPS15L1_ENST00000455140.2_Missense_Mutation_p.A29T NM_001258376.1 NP_001245305.1 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 29 EH 1. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 CCTGTGTATGCCGGATCGACC 0.512000 OREG0025335 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 123 0 0 0.009096 0 0 ZNF407 55628 broad.mit.edu 37 18 72343009 72343009 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr18:72343009G>A ENST00000299687.5 + 1 34 c.34G>A c.(34-36)Gag>Aag p.E12K ZNF407_ENST00000309902.6_Missense_Mutation_p.E12K|ZNF407_ENST00000577538.1_Missense_Mutation_p.E12K|ZNF407_ENST00000582337.1_Missense_Mutation_p.E12K NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) CGAAAATGATGAGGATGAAAA 0.408000 7 18 0 0 0.003080 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629441 1629441 + Missense_Mutation SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr11:1629441A>G ENST00000399685.1 - 1 252 c.175T>C c.(175-177)Tcc>Ccc p.S59P NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 59 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) CCCCCACAGGAGCCACAGCTG 0.677000 72 193 0 0 0.014410 0 0 TAF1C 9013 broad.mit.edu 37 16 84217036 84217036 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr16:84217036C>T ENST00000567759.1 - 4 480 c.298G>A c.(298-300)Gtg>Atg p.V100M TAF1C_ENST00000378541.4_Missense_Mutation_p.V100M|TAF1C_ENST00000341690.6_Missense_Mutation_p.V33M|TAF1C_ENST00000541676.1_Missense_Mutation_p.V33M|TAF1C_ENST00000566732.1_Missense_Mutation_p.V100M|TAF1C_ENST00000570117.1_Intron NM_005679.3 NP_005670.3 Q15572 TAF1C_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa 100 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 ACATCCAGCACGACTCGGGGC 0.637000 8 16 0 0 0.004482 0 0 EXO1 9156 broad.mit.edu 37 1 242020736 242020736 + Silent SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:242020736A>G ENST00000366548.3 + 7 1088 c.495A>G c.(493-495)caA>caG p.Q165Q EXO1_ENST00000518483.1_Silent_p.Q165Q|EXO1_ENST00000348581.5_Silent_p.Q165Q|EXO1_ENST00000493702.1_3'UTR NM_130398.3 NP_569082.2 Q9UQ84 EXO1_HUMAN exonuclease 1 165 I-domain.|Interaction with MSH3. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) GAATTGTGCAAGCCATAATTA 0.458000 Editing and processing nucleases 20 59 0 0 0.014323 0 0 CETN1 1068 broad.mit.edu 37 18 580607 580607 + Missense_Mutation SNP G G C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr18:580607G>C ENST00000327228.3 + 1 241 c.199G>C c.(199-201)Gaa>Caa p.E67Q NM_004066.1 NP_004057.1 Q12798 CETN1_HUMAN centrin, EF-hand protein, 1 67 EF-hand 2. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2) 25 ACCCAGGAAGGAAGAGATGAA 0.557000 10 34 0 0 0.006214 0 0 PPFIBP2 8495 broad.mit.edu 37 11 7631535 7631535 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr11:7631535G>A ENST00000299492.4 + 6 888 c.500G>A c.(499-501)cGc>cAc p.R167H PPFIBP2_ENST00000530181.1_Missense_Mutation_p.R24H|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.R9H|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.R55H NM_003621.3 NP_003612.2 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 167 cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) CTGCTAAGCCGCACATCTCTT 0.493000 4 180 0 0 0.014758 0 0 SETD1A 9739 broad.mit.edu 37 16 30980949 30980949 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr16:30980949G>A ENST00000262519.8 + 12 3641 c.2955G>A c.(2953-2955)gaG>gaA p.E985E NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 985 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 AGGAAGATGAGGAAGATGAAG 0.507000 7 31 0 0 0.003080 0 0 ZNF594 84622 broad.mit.edu 37 17 5086056 5086056 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr17:5086056C>T ENST00000399604.4 - 1 1636 c.1496G>A c.(1495-1497)cGg>cAg p.R499Q ZNF594_ENST00000575779.1_Missense_Mutation_p.R499Q Q96JF6 ZN594_HUMAN zinc finger protein 594 499 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 GAGTGAACGCCGCCTGAAGGC 0.478000 11 58 0 0 0.013537 0 0 CACNA1E 777 broad.mit.edu 37 1 181702754 181702754 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:181702754C>T ENST00000526775.1 + 20 3238 c.3073C>T c.(3073-3075)Cgg>Tgg p.R1025W CACNA1E_ENST00000357570.5_Missense_Mutation_p.R995W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1025W|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1044W|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R651W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R976W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1044W NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1044 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AGACATGGGCCGGGTCATCAG 0.647000 6 17 0 0 0.021553 0 0 NUDT12 83594 broad.mit.edu 37 5 102895788 102895788 + Silent SNP T T G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:102895788T>G ENST00000230792.2 - 2 258 c.162A>C c.(160-162)gcA>gcC p.A54A NUDT12_ENST00000507423.1_Intron NM_031438.2 NP_113626.1 Q9BQG2 NUD12_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 12 54 nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1) 12 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) GCCCATTCCTTGCCGCATACA 0.408000 14 106 0 0 0.028581 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143913112 143913112 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:143913112G>A ENST00000409869.1 + 3 230 c.53G>A c.(52-54)cGc>cAc p.R18H ARHGAP15_ENST00000295095.6_Missense_Mutation_p.R18H Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 18 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) AATTCTACCCGCCAAGGCACA 0.398000 9 23 0 0 0.004482 0 0 RTF1 23168 broad.mit.edu 37 15 41750014 41750014 + Missense_Mutation SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr15:41750014A>G ENST00000389629.4 + 4 614 c.602A>G c.(601-603)gAg>gGg p.E201G NM_015138.4 NP_055953.3 Q92541 RTF1_HUMAN Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 201 Glu-rich. histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 18 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) CAGATGACAGAGAAAGAGAGA 0.517000 27 71 0 0 0.010818 0 0 IGSF3 3321 broad.mit.edu 37 1 117142910 117142910 + Missense_Mutation SNP G G C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:117142910G>C ENST00000369486.3 - 7 2447 c.1682C>G c.(1681-1683)tCc>tGc p.S561C IGSF3_ENST00000318837.6_Missense_Mutation_p.S581C|IGSF3_ENST00000369483.1_Missense_Mutation_p.S581C NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 561 Ig-like C2-type 5. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) CAAGTCAAAGGAGTCGCTGTA 0.592000 18 68 0 0 0.008871 0 0 GPX6 257202 broad.mit.edu 37 6 28473490 28473490 + Missense_Mutation SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:28473490G>T ENST00000361902.1 - 4 498 c.449C>A c.(448-450)aCt>aAt p.T150N GPX6_ENST00000474923.1_Intron NM_182701.1 NP_874360.1 P59796 GPX6_HUMAN glutathione peroxidase 6 (olfactory) 150 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) CTTCAGGAAAGTAAAGACCTT 0.473000 15 72 6.31663e-08 6.83438e-08 0.024245 1 0 RTDR1 27156 broad.mit.edu 37 22 23401824 23401824 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr22:23401824G>A ENST00000216036.4 - 7 1059 c.863C>T c.(862-864)gCg>gTg p.A288V NM_014433.2 NP_055248.1 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region gene 1 288 binding breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) ATTCAGGCGCGCTATGGTCAT 0.657000 16 119 0 0 0.028581 0 0 MYH6 4624 broad.mit.edu 37 14 23862217 23862217 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr14:23862217C>T ENST00000405093.3 - 24 3225 c.3155G>A c.(3154-3156)cGa>cAa p.R1052Q MYH6_ENST00000356287.3_Missense_Mutation_p.R1052Q NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1052 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCGCTTTGCTCGCTCCAGGTC 0.488000 31 73 0 0 0.015359 0 0 FUT5 2527 broad.mit.edu 37 19 5867522 5867522 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr19:5867522G>A ENST00000252675.5 - 5 777 c.215C>T c.(214-216)gCc>gTc p.A72V FUT5_ENST00000588525.1_Missense_Mutation_p.A72V Q11128 FUT5_HUMAN fucosyltransferase 5 (alpha (1,3) fucosyltransferase) 72 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 GGTGGGGTGGGCAGGGGTCGC 0.662000 15 51 0 0 0.024245 0 0 CXXC5 51523 broad.mit.edu 37 5 139060923 139060923 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:139060923G>A ENST00000302517.3 + 2 1529 c.815G>A c.(814-816)cGc>cAc p.R272H CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Missense_Mutation_p.R272H NM_016463.7 NP_057547.5 Q7LFL8 CXXC5_HUMAN CXXC finger protein 5 272 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCCGGCGGCGCATCAACTGC 0.572000 81 112 0 0 0.014410 0 0 KRBA2 124751 broad.mit.edu 37 17 8273377 8273377 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr17:8273377C>T ENST00000396267.1 - 2 1139 c.308G>A c.(307-309)cGg>cAg p.R103Q RP11-849F2.7_ENST00000582471.1_3'UTR|KRBA2_ENST00000331336.2_Missense_Mutation_p.R185Q|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA Q6ZNG9 KRBA2_HUMAN KRAB-A domain containing 2 185 KRAB. DNA integration|regulation of transcription, DNA-dependent intracellular DNA binding endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1) 18 TACATAATACCGTATTCGATC 0.443000 47 127 0 0 0.013114 0 0 SNAP47 116841 broad.mit.edu 37 1 227935613 227935613 + Missense_Mutation SNP A A T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:227935613A>T ENST00000366759.4 + 2 725 c.311A>T c.(310-312)gAg>gTg p.E104V SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Missense_Mutation_p.E104V NM_053052.3 NP_444280.2 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 104 endomembrane system|membrane|perinuclear region of cytoplasm endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 ATCAAGAAGGAGGCTTCACAT 0.527000 20 48 0 0 0.010504 0 0 TEX13A 56157 broad.mit.edu 37 X 104464900 104464900 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chrX:104464900C>T ENST00000372578.3 - 2 293 c.182G>A c.(181-183)aGt>aAt p.S61N IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.S61N|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.S61N NM_031274.3 NP_112564.1 Q9BXU3 TX13A_HUMAN testis expressed 13A 61 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 TTTGACCTCACTGGGCACCTC 0.592000 15 20 0 0 0.028581 0 0 TMEM72 643236 broad.mit.edu 37 10 45430152 45430152 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr10:45430152G>A ENST00000544540.1 + 4 528 c.44G>A c.(43-45)cGg>cAg p.R15Q TMEM72-AS1_ENST00000450287.2_RNA A0PK05 TMM72_HUMAN transmembrane protein 72 133 integral to membrane p.R133L(2) breast(2)|kidney(1)|large_intestine(2)|lung(10) 15 CTGAGCAAGCGGAAGAAGAGG 0.602000 25 79 0 0 0.024334 0 0 CSMD1 64478 broad.mit.edu 37 8 2966226 2966226 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr8:2966226C>T ENST00000520002.1 - 45 7211 c.6656G>A c.(6655-6657)gGc>gAc p.G2219D CSMD1_ENST00000602723.1_Missense_Mutation_p.G2219D|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2219D|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2219D|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2218D|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2218D Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2219 CUB 13. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGCTGTGTTGCCACTGAAAAC 0.498000 5 12 0 0 0.014758 0 0 MRC1 4360 broad.mit.edu 37 10 17875801 17875801 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr10:17875801G>A ENST00000331429.2 + 4 868 c.765G>A c.(763-765)ctG>ctA p.L255L MRC1L1_ENST00000457317.1_Silent_p.L255L breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CTGAGCTCCTGAGCATCACAG 0.428000 34 43 0 0 0.021022 0 0 IGLC7 28834 broad.mit.edu 37 22 23264932 23264932 + RNA SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr22:23264932C>T ENST00000390331.1 + 0 167 TGGAGACCACCAAACCCTCCA 0.597000 7 50 0 0 0.001984 0 0 DNAH5 1767 broad.mit.edu 37 5 13839478 13839478 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:13839478G>A ENST00000265104.4 - 35 5973 c.5869C>T c.(5869-5871)Cca>Tca p.P1957S NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1957 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCTGTAAGTGGAGTTATTACA 0.418000 Kartagener syndrome 29 104 0 0 0.008361 0 0 ZNF572 137209 broad.mit.edu 37 8 125989237 125989237 + Missense_Mutation SNP C C A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr8:125989237C>A ENST00000319286.5 + 3 881 c.727C>A c.(727-729)Cca>Aca p.P243T NM_152412.2 NP_689625.2 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) AGGTGAAAAACCATATGAATG 0.453000 HNSCC(60;0.17) 22 90 1.26454e-06 1.34613e-06 0.027356 1 0 IRX2 153572 broad.mit.edu 37 5 2748625 2748625 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:2748625G>A ENST00000382611.6 - 3 1445 c.1197C>T c.(1195-1197)aaC>aaT p.N399N IRX2_ENST00000302057.5_Silent_p.N399N NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 399 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) GCAGCGCCGCGTTCAAGTTCC 0.711000 21 67 0 0 0.021523 0 0 INPP4B 8821 broad.mit.edu 37 4 143003331 143003331 + Missense_Mutation SNP C C A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr4:143003331C>A ENST00000513000.1 - 26 2928 c.2495G>T c.(2494-2496)cGc>cTc p.R832L INPP4B_ENST00000308502.4_Missense_Mutation_p.R832L|INPP4B_ENST00000262992.4_Missense_Mutation_p.R832L|INPP4B_ENST00000509777.1_Missense_Mutation_p.R832L|INPP4B_ENST00000508116.1_Missense_Mutation_p.R832L NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 832 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) ATTCAGTTTGCGGCAAATCTG 0.403000 11 45 0.00136819 0.00141095 0.013537 1 0 LOC81691 81691 broad.mit.edu 37 16 20856094 20856094 + Silent SNP C C G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr16:20856094C>G ENST00000261377.6 + 17 2072 c.1863C>G c.(1861-1863)ctC>ctG p.L621L AC004381.6_ENST00000564274.1_Silent_p.L621L|AC004381.6_ENST00000348433.6_Silent_p.L590L|ERI2_ENST00000564349.1_Intron NM_001199053.1|NM_030941.2 NP_001185982.1|NP_112203.2 AGCCCCGCCTCTTTCTTGGCC 0.428000 29 82 0 0 0.008361 0 0 RELN 5649 broad.mit.edu 37 7 103270590 103270590 + Silent SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr7:103270590C>T ENST00000424685.2 - 20 2658 c.2499G>A c.(2497-2499)aaG>aaA p.K833K RELN_ENST00000428762.1_Silent_p.K833K|RELN_ENST00000343529.5_Silent_p.K833K P78509 RELN_HUMAN reelin 833 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TTCCAAACTGCTTTGCATCAC 0.343000 16 80 0 0 0.006122 0 0 EPN3 55040 broad.mit.edu 37 17 48613879 48613879 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr17:48613879C>T ENST00000537145.1 + 2 346 c.209C>T c.(208-210)cCg>cTg p.P70L EPN3_ENST00000541226.1_5'UTR|EPN3_ENST00000268933.3_5'UTR Q9H201 EPN3_HUMAN epsin 3 206 ENTH. clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) CCTCCACCTCCGGCGGGGGCG 0.642000 18 46 0 0 0.006122 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 6 81 0 0 0.001984 0 0 EPHA7 2045 broad.mit.edu 37 6 94068069 94068069 + Missense_Mutation SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:94068069G>T ENST00000369303.4 - 4 1077 c.893C>A c.(892-894)aCt>aAt p.T298N NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 298 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) AAAACTGTGAGTTGGACAACG 0.473000 10 66 2.17888e-05 2.27062e-05 0.006214 1 0 LIMK2 3985 broad.mit.edu 37 22 31655979 31655979 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr22:31655979C>T ENST00000331728.4 + 5 581 c.467C>T c.(466-468)cCg>cTg p.P156L LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Missense_Mutation_p.P135L|LIMK2_ENST00000340552.4_Missense_Mutation_p.P135L|LIMK2_ENST00000406516.1_Missense_Mutation_p.P78L NM_005569.3 NP_005560.1 P53671 LIMK2_HUMAN LIM domain kinase 2 156 PDZ. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 ATCTCCATGCCGGCCACCACT 0.557000 4 77 0 0 0.014758 0 0 TTN 7273 broad.mit.edu 37 2 179473617 179473617 + Missense_Mutation SNP A A T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:179473617A>T ENST00000589042.1 - 274 52345 c.52121T>A c.(52120-52122)aTc>aAc p.I17374N TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I14806N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I15733N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I8434N|TTN_ENST00000460472.2_Missense_Mutation_p.I8309N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I8501N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15733 Fibronectin type-III 26. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TACAAAGTTGATTGGTGGTCC 0.388000 31 116 0 0 0.010818 0 0 SUSD5 26032 broad.mit.edu 37 3 33255548 33255548 + Silent SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr3:33255548C>T ENST00000309558.3 - 2 579 c.162G>A c.(160-162)ctG>ctA p.L54L NM_015551.1 NP_056366.1 O60279 SUSD5_HUMAN sushi domain containing 5 54 Link. cell adhesion integral to membrane hyaluronic acid binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 GAGCAGCCTCCAGTTGTAGGC 0.547000 5 28 0 0 0.021553 0 0 FAM71A 149647 broad.mit.edu 37 1 212799632 212799632 + Missense_Mutation SNP T T G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:212799632T>G ENST00000294829.3 + 1 1844 c.1413T>G c.(1411-1413)gaT>gaG p.D471E RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 471 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) CCAATAGAGATGACAAAAAGG 0.557000 20 44 0 0 0.012319 0 0 OTOGL 283310 broad.mit.edu 37 12 80730728 80730728 + Missense_Mutation SNP A A C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr12:80730728A>C ENST00000458043.2 + 41 4783 c.4777A>C c.(4777-4779)Aag>Cag p.K1593Q OTOGL_ENST00000547103.1_Missense_Mutation_p.K1581Q NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTGTTTTAAGAAGTTAAATGT 0.294000 3 10 0 0 0.009096 0 0 SMAD2 4087 broad.mit.edu 37 18 45394805 45394805 + Nonsense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr18:45394805G>A ENST00000402690.2 - 5 938 c.544C>T c.(544-546)Cga>Tga p.R182* SMAD2_ENST00000587353.1_5'UTR|SMAD2_ENST00000591214.1_Nonsense_Mutation_p.R152*|SMAD2_ENST00000356825.4_Nonsense_Mutation_p.R152*|SMAD2_ENST00000586040.1_Nonsense_Mutation_p.R152*|SMAD2_ENST00000262160.6_Nonsense_Mutation_p.R182* NM_001003652.3 NP_001003652.1 Q15796 SMAD2_HUMAN SMAD family member 2 182 anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis activin responsive factor complex|cytosol activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1) 43 TCGGTGTGTCGGGGCACTAAT 0.438000 12 44 0 0 0.013537 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256301 140256301 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:140256301G>A ENST00000398631.2 + 1 1244 c.1244G>A c.(1243-1245)cGc>cAc p.R415H PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCTGGACCGCGAGAGCGTG 0.612000 57 223 0 0 0.014410 0 0 PTPRH 5794 broad.mit.edu 37 19 55711682 55711682 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr19:55711682C>T ENST00000376350.3 - 7 1364 c.1342G>A c.(1342-1344)Gga>Aga p.G448R PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.G270R NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 448 Fibronectin type-III 5. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) TACAAGGTTCCGGGCTCAAGT 0.522000 27 89 0 0 0.027356 0 0 KIF1C 10749 broad.mit.edu 37 17 4926827 4926827 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr17:4926827C>T ENST00000320785.5 + 23 3050 c.2693C>T c.(2692-2694)gCa>gTa p.A898V NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 898 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 GGATCAGAGGCAGCAGAGGAG 0.637000 11 35 0 0 0.008291 0 0 VPS8 23355 broad.mit.edu 37 3 184714191 184714191 + Silent SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr3:184714191G>T ENST00000437079.3 + 44 3909 c.3738G>T c.(3736-3738)tcG>tcT p.S1246S VPS8_ENST00000436792.2_Silent_p.S1244S|VPS8_ENST00000446204.2_Silent_p.S1154S|VPS8_ENST00000287546.4_Silent_p.S1246S NM_001009921.2 NP_001009921.1 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) 1246 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) TGAGAGCTTCGGTCACCAGAG 0.413000 21 32 1.96292e-10 2.14729e-10 0.010504 1 0 SGCD 6444 broad.mit.edu 37 5 156186283 156186283 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:156186283C>T ENST00000435422.3 + 8 1239 c.752C>T c.(751-753)aCg>aTg p.T251M SGCD_ENST00000337851.4_Missense_Mutation_p.T252M NM_001128209.1 NP_001121681.1 Q92629 SGCD_HUMAN sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 251 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1) 24 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGATCCTACACGCCTACAGGA 0.498000 20 106 0 0 0.014323 0 0 SIM1 6492 broad.mit.edu 37 6 100841635 100841635 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:100841635G>A ENST00000369208.3 - 11 2080 c.1298C>T c.(1297-1299)tCg>tTg p.S433L SIM1_ENST00000262901.4_Missense_Mutation_p.S433L P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 433 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GTAGGCGCACGATGCGTCGTG 0.617000 13 59 0 0 0.024245 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144859816 144859816 + Missense_Mutation SNP T T C rs72063878 TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:144859816T>C ENST00000369359.4 - 41 6714 c.6676A>G c.(6676-6678)Att>Gtt p.I2226V PDE4DIP_ENST00000530740.1_Missense_Mutation_p.I2175V|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.I2090V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.I2090V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.I1984V|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2090 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TTCTGGTTAATGGAGGAGGGG 0.577000 T PDGFRB MPD 6 98 0 0 0.010729 0 0 GOLGA1 2800 broad.mit.edu 37 9 127650555 127650555 + Nonsense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr9:127650555G>A ENST00000373555.4 - 19 2215 c.1882C>T c.(1882-1884)Cag>Tag p.Q628* NM_002077.3 NP_002068.1 Q92805 GOGA1_HUMAN golgin A1 628 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 AGAAGTTGCTGCTCCAAGTCC 0.517000 42 251 0 0 0.011902 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 39 0 0 0.004672 0 0 KIAA1683 80726 broad.mit.edu 37 19 18378184 18378184 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr19:18378184G>A ENST00000392413.3 - 3 381 c.166C>T c.(166-168)Cac>Tac p.H56Y KIAA1683_ENST00000600359.2_Missense_Mutation_p.H10Y|KIAA1683_ENST00000600328.2_Missense_Mutation_p.H56Y NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 56 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 AGGCCCTCGTGCTGGGGCTGT 0.657000 31 76 0 0 0.009535 0 0 UBR5 51366 broad.mit.edu 37 8 103281237 103281237 + Nonsense_Mutation SNP C C A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr8:103281237C>A ENST00000520539.1 - 51 7936 c.7330G>T c.(7330-7332)Gag>Tag p.E2444* UBR5_ENST00000521922.1_Nonsense_Mutation_p.E2438*|UBR5_ENST00000518205.1_Nonsense_Mutation_p.E173*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.E2444* NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2444 PABC. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TCCATGGCCTCATCCACTCTT 0.443000 27 117 3.73148e-12 4.17419e-12 0.007291 1 0 OR5H6 79295 broad.mit.edu 37 3 97983874 97983874 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr3:97983874G>A ENST00000383696.2 + 1 787 c.746G>A c.(745-747)gGg>gAg p.G249E RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TCTATCAAAGGGATACGAAAA 0.383000 7 39 0 0 0.003080 0 0 RTN4IP1 84816 broad.mit.edu 37 6 107019900 107019900 + Nonsense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:107019900G>A ENST00000369063.3 - 9 1627 c.1162C>T c.(1162-1164)Cga>Tga p.R388* RTN4IP1_ENST00000539449.1_3'UTR|RTN4IP1_ENST00000498091.1_5'UTR NM_032730.4 NP_116119.2 Q8WWV3 RT4I1_HUMAN reticulon 4 interacting protein 1 388 mitochondrion oxidoreductase activity|zinc ion binding breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1) 13 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144) Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394) all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144) GTCTTTCCTCGTGCGTGTCCT 0.383000 21 94 0 0 0.016522 0 0 MFSD2A 84879 broad.mit.edu 37 1 40424394 40424394 + Missense_Mutation SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:40424394A>G ENST00000372809.5 + 3 432 c.289A>G c.(289-291)Atc>Gtc p.I97V MFSD2A_ENST00000372811.5_Missense_Mutation_p.I84V|MFSD2A_ENST00000420632.2_Intron NM_001136493.1 NP_001129965.1 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 2A 97 transmembrane transport endoplasmic reticulum membrane|integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 CTCTGCCTCCATCATCCTGTT 0.582000 50 152 0 0 0.014410 0 0 MLLT10 8028 broad.mit.edu 37 10 21845639 21845639 + Missense_Mutation SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr10:21845639G>T ENST00000377100.3 + 4 664 c.308G>T c.(307-309)tGc>tTc p.C103F MLLT10_ENST00000446906.2_Intron|MLLT10_ENST00000377059.3_Intron|MLLT10_ENST00000495130.1_Intron|MLLT10_ENST00000377072.3_Intron|MLLT10_ENST00000377091.2_3'UTR|MLLT10_ENST00000307729.7_Intron NM_001195628.1|NM_001195630.1 NP_001182557.1|NP_001182559.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 0 Self-association. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 gaacatcactgcgcatgtgca 0.468000 T """MLL, PICALM, CDK6""" AL 9 22 0.00829132 0.00850612 0.008291 1 0 DOCK9 23348 broad.mit.edu 37 13 99476709 99476709 + Silent SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr13:99476709G>T ENST00000376460.1 - 46 5153 c.5073C>A c.(5071-5073)atC>atA p.I1691I DOCK9_ENST00000339416.2_Silent_p.I1692I|DOCK9_ENST00000448493.2_3'UTR NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1692 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCTCCTCGTCGATGTTTGGGG 0.537000 32 111 1.36161e-19 1.57661e-19 0.019004 1 0 CCDC125 202243 broad.mit.edu 37 5 68603840 68603840 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:68603840C>T ENST00000396496.2 - 5 576 c.469G>A c.(469-471)Gcc>Acc p.A157T CCDC125_ENST00000511257.1_Missense_Mutation_p.A32T|CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000383374.2_Missense_Mutation_p.A156T|CCDC125_ENST00000396499.1_Missense_Mutation_p.A157T Q86Z20 CC125_HUMAN coiled-coil domain containing 125 157 cytoplasm breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1) 19 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) TGACTTGTGGCTTTGCCCAGT 0.343000 49 45 0 0 0.014410 0 0 XDH 7498 broad.mit.edu 37 2 31562418 31562418 + Frame_Shift_Del DEL G G - TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:31562418delG ENST00000379416.3 - 34 3759 c.3711delC c.(3709-3711)ccfs p.P1237fs NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 1237 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TGAACTCAATGGGGATGCTGC 0.577 46 164 --- --- --- --- PCDHGA9 56107 broad.mit.edu 37 5 140783917 140783918 + Frame_Shift_Del DEL CA CA - TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:140783917_140783918delCA ENST00000573521.1 + 1 1398_1399 c.1398_1399delCA c.(1396-1401)gcgafs p.AR466fs PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAACAACGCCAGAGGTACTTC 0.470 17 110 --- --- --- --- CCDC136 64753 broad.mit.edu 37 7 128454860 128454861 + Frame_Shift_Ins INS - - C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr7:128454860_128454861insC ENST00000297788.4 + 15 3299_3300 c.2932_2933insC c.(2932-2934)ccgfs p.P978fs CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000471729.1_3'UTR NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 978 integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 TGTCAAAGAAGCCCGGGGGAAG 0.540 6 13 --- --- --- --- CAMKK2 10645 broad.mit.edu 37 12 121682412 121682412 + Frame_Shift_Del DEL T T - TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr12:121682412delT ENST00000324774.5 - 16 2388 c.1560delA c.(1558-1560)aafs p.K520fs CAMKK2_ENST00000538733.1_Intron|CAMKK2_ENST00000402834.4_Frame_Shift_Del_p.K520fs|CAMKK2_ENST00000446440.2_Frame_Shift_Del_p.K477fs|CAMKK2_ENST00000392474.2_Frame_Shift_Del_p.K520fs|CAMKK2_ENST00000392473.2_Frame_Shift_Del_p.K520fs|CAMKK2_ENST00000347034.2_Frame_Shift_Del_p.K477fs|CAMKK2_ENST00000404169.3_Frame_Shift_Del_p.K520fs|CAMKK2_ENST00000337174.3_Intron|CAMKK2_ENST00000545538.1_Frame_Shift_Del_p.K307fs|CAMKK2_ENST00000412367.2_Intron NM_006549.3 NP_006540.3 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase kinase 2, beta 520 calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCCTGGTTGGTTTTTTGCTGG 0.627 2 4 --- --- --- --- ZIC2 7546 broad.mit.edu 37 13 100635008 100635010 + In_Frame_Del DEL CCA CCA - TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr13:100635008_100635010delCCA ENST00000376335.3 + 1 983_985 c.690_692delCCA c.(688-693)gcc>gc p.AH230del NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 230 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAGCCGCGGCccaccaccaccac 0.621 7 63 --- --- --- --- RFX7 64864 broad.mit.edu 37 15 56387585 56387586 + Frame_Shift_Ins INS - - A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr15:56387585_56387586insA ENST00000423270.1 - 9 2339_2340 c.2340_2341insT c.(2338-2343)aagatgfs p.KM780fs RFX7_ENST00000317318.6_Frame_Shift_Ins_p.KM780fs|RFX7_ENST00000559447.2_Frame_Shift_Ins_p.KM683fs|RFX7_ENST00000422057.1_Frame_Shift_Ins_p.KM683fs NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 683 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 TGTTGCCATCCATTTGGATTAA 0.371 28 81 --- --- --- --- MBTPS1 8720 broad.mit.edu 37 16 84115471 84115472 + Frame_Shift_Ins INS - - T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr16:84115471_84115472insT ENST00000343411.3 - 11 1823_1824 c.1328_1329insA c.(1327-1329)acafs p.T443fs MBTPS1_ENST00000569770.1_5'UTR NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 443 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TCAGGGCCTGCTTCATACTGGC 0.525 21 49 --- --- --- --- FRG1BP 284802 broad.mit.edu 37 20 29625899 29625900 + Frame_Shift_Ins INS - - AT TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr20:29625899_29625900insAT ENST00000278882.3 + 5 523_524 c.143_144insAT c.(142-144)atafs p.I48fs FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTATGGAAAATATCTTGGTA 0.342 9 107 --- --- --- --- HUWE1 10075 broad.mit.edu 37 X 53587364 53587365 + Frame_Shift_Ins INS - - G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chrX:53587364_53587365insG ENST00000342160.3 - 55 7977_7978 c.7520_7521insC c.(7519-7521)ctcfs p.L2507fs HUWE1_ENST00000262854.6_Frame_Shift_Ins_p.L2507fs Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 2507 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TTCCTGGGGATGGGGGGATGTC 0.495 21 18 --- --- --- ---