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 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 8 447 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274416 39274416 + Missense_Mutation SNP C C T rs408579 by1000genomes TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d 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 4 257 0 0 1 0 0 GPRASP2 114928 broad.mit.edu 37 X 101969855 101969855 + Nonsense_Mutation SNP G G T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chrX:101969855G>T ENST00000543253.1 + 5 977 c.58G>T c.(58-60)Gaa>Taa p.E20* GPRASP2_ENST00000535209.1_Nonsense_Mutation_p.E20*|GPRASP2_ENST00000332262.5_Nonsense_Mutation_p.E20* NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 GAAGGCTGGGGAAGAGGTTAT 0.527000 7 273 1.12685e-05 1.14168e-05 1 1 0 ZAN 7455 broad.mit.edu 37 7 100350466 100350466 + RNA SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr7:100350466C>T ENST00000542585.1 + 0 2886 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCAGAAAAACCCACCATCTCC 0.507000 8 645 0 0 1 0 0 PPP2R1B 5519 broad.mit.edu 37 11 111614250 111614250 + Silent SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr11:111614250G>A ENST00000527614.1 - 12 1469 c.1404C>T c.(1402-1404)taC>taT p.Y468Y PPP2R1B_ENST00000311129.5_Silent_p.Y468Y|PPP2R1B_ENST00000393055.2_Silent_p.Y341Y|PPP2R1B_ENST00000426998.2_Silent_p.Y404Y|PPP2R1B_ENST00000427203.2_Silent_p.Y307Y|PPP2R1B_ENST00000341980.6_Silent_p.Y423Y NM_001177562.1|NM_002716.4 NP_001171033.1|NP_002707.3 P30154 2AAB_HUMAN protein phosphatase 2, regulatory subunit A, beta 468 protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2) 22 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) CTCGGATGGCGTATACTGCAG 0.388000 7 821 0 0 1 0 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31844167 31844167 + Missense_Mutation SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr22:31844167C>T ENST00000397525.1 - 13 2043 c.1820G>A c.(1819-1821)cGc>cAc p.R607H EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R262H|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R583H|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R432H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R607H NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 607 nucleus protein binding|protein transporter activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CATGGGTTTGCGCATGCCTTG 0.537000 5 601 0 0 1 0 0 ANAPC1 64682 broad.mit.edu 37 2 112625621 112625621 + Missense_Mutation SNP G G C TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr2:112625621G>C ENST00000341068.3 - 7 1436 c.664C>G c.(664-666)Cca>Gca p.P222A NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 222 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm p.P222A(3) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 CAAACAAGTGGAGTTATTTCA 0.328000 7 325 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254058 39254058 + Missense_Mutation SNP G G T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:39254058G>T ENST00000333822.4 - 1 335 c.279C>A c.(277-279)agC>agA p.S93R NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 93 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 agatgcagcagcTAGGGTGGC 0.677000 7 226 1.36161e-19 1.45617e-19 1 1 0 ZNF513 130557 broad.mit.edu 37 2 27600645 27600645 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr2:27600645G>A ENST00000323703.6 - 4 1591 c.1393C>T c.(1393-1395)Cgg>Tgg p.R465W ZNF513_ENST00000491924.1_5'UTR|ZNF513_ENST00000407879.1_Missense_Mutation_p.R403W NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 465 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTGTGTGCCGCAGCATGTGA 0.582000 7 1001 0 0 1 0 0 DHRS13 147015 broad.mit.edu 37 17 27228119 27228119 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:27228119G>A ENST00000394901.3 - 3 813 c.421C>T c.(421-423)Cgg>Tgg p.R141W DHRS13_ENST00000426464.2_Missense_Mutation_p.R110W|DHRS13_ENST00000378895.4_Missense_Mutation_p.R191W Q6UX07 DHR13_HUMAN dehydrogenase/reductase (SDR family) member 13 191 extracellular region binding|oxidoreductase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 9 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) AGCTCCTGCCGCCAGCCCACC 0.632000 5 414 0 0 1 0 0 ZC2HC1A 51101 broad.mit.edu 37 8 79629684 79629684 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr8:79629684G>A ENST00000263849.4 + 9 1036 c.934G>A c.(934-936)Gcc>Acc p.A312T NM_016010.2 NP_057094.2 Q96GY0 F164A_HUMAN zinc finger, C2HC-type containing 1A 312 TGTAGAATGGGCCAAATTTTG 0.358000 6 794 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:155887393T>G ENST00000368320.3 - 11 1362 c.1337A>C c.(1336-1338)cAg>cCg p.Q446P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P Q7Z7F0 K0907_HUMAN KIAA0907 446 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.567000 16 130 0 0 1 0 0 SYCP2 10388 broad.mit.edu 37 20 58443596 58443596 + Missense_Mutation SNP C C G TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr20:58443596C>G ENST00000357552.3 - 38 4085 c.3860G>C c.(3859-3861)aGa>aCa p.R1287T SYCP2_ENST00000371001.2_Missense_Mutation_p.R1287T Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1287 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) TATATATATTCTTTTGCGACT 0.323000 5 440 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143029823 143029823 + Missense_Mutation SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr7:143029823C>T ENST00000343257.2 + 12 1345 c.1258C>T c.(1258-1260)Ccc>Tcc p.P420S NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 420 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CCAGTTGATGCCCCGCGAAGC 0.522000 6 1084 0 0 1 0 0 SEC24B 10427 broad.mit.edu 37 4 110447472 110447472 + Missense_Mutation SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr4:110447472C>T ENST00000265175.5 + 17 2937 c.2882C>T c.(2881-2883)gCg>gTg p.A961V SEC24B_ENST00000399100.2_Missense_Mutation_p.A926V|SEC24B_ENST00000504968.2_Missense_Mutation_p.A991V NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 961 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) GCTGGATTTGCGGTGCAGTTG 0.363000 5 683 0 0 1 0 0 SLC17A8 246213 broad.mit.edu 37 12 100795569 100795569 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr12:100795569G>A ENST00000323346.5 + 6 1004 c.691G>A c.(691-693)Gca>Aca p.A231T SLC17A8_ENST00000392989.3_Missense_Mutation_p.A231T NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 231 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 CTATGCAGGGGCAGTGGTTGC 0.443000 7 591 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6710455 6710455 + Splice_Site SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr12:6710455C>T ENST00000309577.6 - 6 962 c.799_splice c.e6+1 p.G267_splice CHD4_ENST00000357008.2_Splice_Site_p.G267_splice|CHD4_ENST00000544040.1_Splice_Site_p.G260_splice|CHD4_ENST00000544484.1_Splice_Site_p.G264_splice Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 267 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CCCATTTCACCTTTGCCCTCC 0.557000 22 858 0 0 1 0 0 KRTAP5-7 440050 broad.mit.edu 37 11 71238615 71238615 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr11:71238615G>A ENST00000398536.4 + 1 303 c.269G>A c.(268-270)tGt>tAt p.C90Y NM_001012503.1 NP_001012521.1 Q6L8G8 KRA57_HUMAN keratin associated protein 5-7 90 7 X 4 AA repeats of C-C-X-P. keratin filament breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1) 12 TGTGGTTCTTGTGgctgctcc 0.647000 9 830 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 11 344 0 0 1 0 0 DDX10 1662 broad.mit.edu 37 11 108546412 108546412 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr11:108546412G>A ENST00000526794.1 + 3 369 c.337G>A c.(337-339)Gcc>Acc p.A113T DDX10_ENST00000322536.3_Missense_Mutation_p.A113T Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 113 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity p.A113T(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) ACTTGGAGCGGCCAAAACTGG 0.438000 T NUP98 AML* 5 618 0 0 1 0 0 RHOH 399 broad.mit.edu 37 4 40245187 40245187 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr4:40245187G>A ENST00000381799.4 + 3 905 c.181G>A c.(181-183)Ggc>Agc p.G61S RHOH_ENST00000505618.1_Missense_Mutation_p.G61S NM_001278363.1|NM_001278365.1|NM_004310.3 NP_001265292.1|NP_001265294.1|NP_004301.1 Q15669 RHOH_HUMAN ras homolog family member H 61 negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding kidney(1)|large_intestine(3)|lung(7)|ovary(1) 12 GGACACAGCCGGCAATGACGC 0.582000 5 251 0 0 1 0 0 HERC2P2 0 broad.mit.edu 37 15 23316050 23316050 + RNA SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr15:23316050G>A ENST00000560464.1 - 0 2889 GCAGCAGTCCGCATAAAGTCT 0.512000 6 540 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 5 600 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000536727.1_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 9 294 2.80697e-09 2.92077e-09 1 1 0 GFER 2671 broad.mit.edu 37 16 2035947 2035947 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr16:2035947G>A ENST00000248114.6 + 3 542 c.536G>A c.(535-537)cGc>cAc p.R179H GFER_ENST00000569451.1_3'UTR|AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000567719.1_Missense_Mutation_p.R104H NM_005262.2 NP_005253.3 P55789 ALR_HUMAN growth factor, augmenter of liver regeneration 179 ERV/ALR sulfhydryl oxidase. cell proliferation|spermatogenesis extracellular region|mitochondrial intermembrane space growth factor activity|thiol oxidase activity endometrium(1)|large_intestine(1)|lung(3) 5 GAAGTGAACCGCAAGCTGGGC 0.607000 5 422 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 6 253 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106820987 106820987 + Missense_Mutation SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr12:106820987C>T ENST00000228347.4 + 13 1336 c.1114C>T c.(1114-1116)Ctt>Ttt p.L372F POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 372 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L372F(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTATCTCTTCTTTTTGAAGA 0.274000 22 129 0 0 1 0 0 TMEM215 401498 broad.mit.edu 37 9 32784414 32784414 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr9:32784414G>A ENST00000342743.5 + 2 598 c.233G>A c.(232-234)cGc>cAc p.R78H NM_212558.2 NP_997723.2 Q68D42 TM215_HUMAN transmembrane protein 215 78 integral to membrane endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2) 12 CTGTGGGTCCGCAAATTGCCC 0.597000 5 426 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128983576 128983576 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr5:128983576G>A ENST00000274487.4 + 12 2118 c.1973G>A c.(1972-1974)cGc>cAc p.R658H CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 658 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) AGTCGAGAGCGCAAATGTCCT 0.507000 5 601 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78208916 78208916 + RNA SNP C C G rs56290535 by1000genomes TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr15:78208916C>G ENST00000565869.1 + 0 53 TCCAGATGTTCTCCTCCATCT 0.627000 7 315 0 0 1 0 0 ABCG4 64137 broad.mit.edu 37 11 119020905 119020905 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr11:119020905G>A ENST00000307417.3 + 2 594 c.230G>A c.(229-231)cGc>cAc p.R77H ABCG4_ENST00000531739.1_Missense_Mutation_p.R77H|ABCG4_ENST00000449422.2_Missense_Mutation_p.R77H NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 77 ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CCCTGCTGGCGCAAAAGGGGT 0.622000 7 636 0 0 1 0 0 ZNF876P 0 broad.mit.edu 37 4 206531 206531 + RNA SNP C C G TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr4:206531C>G ENST00000356347.3 + 0 133 NR_027481.1 TTGGATGATTCGTAGCTAAGA 0.632000 5 129 0 0 1 0 0 CCIN 881 broad.mit.edu 37 9 36170278 36170278 + Missense_Mutation SNP G G A rs146585082 byFrequency TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr9:36170278G>A ENST00000335119.2 + 1 890 c.779G>A c.(778-780)cGc>cAc p.R260H NM_005893.2 NP_005884.2 Q13939 CALI_HUMAN calicin 260 cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton p.R260H(1) breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4) 21 STAD - Stomach adenocarcinoma(86;0.228) CTGATGGACCGCAAGCAGGAG 0.592000 4 141 0 0 1 0 0 PCDHA3 0 broad.mit.edu 37 5 140181599 140181599 + Missense_Mutation SNP G G C TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr5:140181599G>C ENST00000522353.2 + 1 817 c.817G>C c.(817-819)Gta>Cta p.V273L PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.V273L|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATGAAGGAGTAAATAAGGA 0.418000 7 370 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57484421 57484421 + Missense_Mutation SNP G G A rs121913495 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr20:57484421G>A ENST00000371100.4 + 8 3083 c.2531G>A c.(2530-2532)cGt>cAt p.R844H GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 201 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1) adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CTTCGCTGCCGTGTCCTGACT 0.423000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 15 329 0 0 1 0 0 MAATS1 89876 broad.mit.edu 37 3 119428733 119428733 + Missense_Mutation SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr3:119428733C>T ENST00000273390.5 + 5 568 c.491C>T c.(490-492)gCc>gTc p.A164V MAATS1_ENST00000463700.1_Missense_Mutation_p.A164V NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 GTTGTTTATGCCGTATCCAAG 0.328000 5 558 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 4 148 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162338 90162338 + RNA SNP T T C TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr16:90162338T>C ENST00000567960.1 + 0 1074 TUBB8P7_ENST00000564451.1_RNA GACATCCCACTCCGGGGGCTA 0.483000 12 766 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 6 271 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40328179 40328179 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:40328179G>A ENST00000264661.3 - 5 1054 c.722C>T c.(721-723)gCg>gTg p.A241V KCNH4_ENST00000607371.1_Missense_Mutation_p.A241V NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 241 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GACGGTGACCGCAACGTAGAA 0.602000 5 489 0 0 1 0 0 RBM28 55131 broad.mit.edu 37 7 127964701 127964701 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr7:127964701G>A ENST00000223073.1 - 12 1364 c.1250C>T c.(1249-1251)gCg>gTg p.A417V RBM28_ENST00000415472.2_Missense_Mutation_p.A276V NM_018077.2 NP_060547.2 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 417 RRM 3. mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 ACGGGTCACCGCCAAGTCAAC 0.552000 7 1200 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87487669 87487669 + Silent SNP G G A rs149876378 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr10:87487669G>A ENST00000327946.7 - 10 1561 c.1476C>T c.(1474-1476)taC>taT p.Y492Y GRID1_ENST00000536331.1_Silent_p.Y63Y NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 492 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.Y492Y(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) GCTGGTGACCGTACCTGCCAT 0.557000 Multiple Myeloma(13;0.14) 6 691 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63206625 63206625 + Missense_Mutation SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:63206625C>T ENST00000449996.3 + 17 1372 c.1300C>T c.(1300-1302)Cgg>Tgg p.R434W RGS9_ENST00000443584.3_Missense_Mutation_p.R434W|RGS9_ENST00000262406.9_Missense_Mutation_p.R437W NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 437 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 CCCTTTTATGCGGCGTCACCT 0.572000 5 464 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 6 23 0 0 1 0 0 DAGLB 221955 broad.mit.edu 37 7 6485734 6485734 + Splice_Site SNP A A C TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr7:6485734A>C ENST00000297056.6 - 2 266 c.95_splice c.e2-1 p.W33_splice KDELR2_ENST00000463747.1_5'UTR|DAGLB_ENST00000428902.2_5'UTR|DAGLB_ENST00000479922.2_5'UTR|DAGLB_ENST00000436575.1_5'UTR|DAGLB_ENST00000425398.2_Splice_Site_p.W33_splice|DAGLB_ENST00000421761.2_5'UTR NM_139179.3 NP_631918.3 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta 33 lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2) 26 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) ATGCCAATCCACCTGGCAAAA 0.473000 18 144 0 0 1 0 0 OTX1 5013 broad.mit.edu 37 2 63280157 63280157 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr2:63280157G>A ENST00000282549.2 + 3 308 c.32G>A c.(31-33)gGc>gAc p.G11D OTX1_ENST00000366671.3_Missense_Mutation_p.G11D NM_014562.3 NP_055377.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 11 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) CCCCCATACGGCATGAACGGG 0.697000 5 429 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1389323 1389323 + Missense_Mutation SNP G G A rs71299249 byFrequency TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr4:1389323G>A ENST00000324803.4 + 1 3984 c.1024G>A c.(1024-1026)Gcc>Acc p.A342T NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 342 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) TGGAGTGCCCGCCTGCTCACA 0.667000 10 1342 0 0 1 0 0 TMPRSS11D 9407 broad.mit.edu 37 4 68688126 68688126 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr4:68688126G>A ENST00000283916.6 - 10 1284 c.1186C>T c.(1186-1188)Ccg>Tcg p.P396S RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.P279S NM_004262.2 NP_004253.1 O60235 TM11D_HUMAN transmembrane protease, serine 11D 396 Peptidase S1. proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 GGCTTATCCGGCAGGCCACAC 0.502000 7 811 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179414500 179414500 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr2:179414500G>A ENST00000589042.1 - 338 92173 c.91949C>T c.(91948-91950)gCt>gTt p.A30650V TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A29009V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A28082V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A21777V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A21585V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A21710V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29009 Fibronectin type-III 123. 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) GGTTATGGGAGCACAACCGTC 0.448000 5 401 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61868601 61868601 + Missense_Mutation SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr10:61868601C>T ENST00000280772.1 - 27 3351 c.3160G>A c.(3160-3162)Gca>Aca p.A1054T ANK3_ENST00000355288.2_Missense_Mutation_p.A188T|ANK3_ENST00000373827.2_Missense_Mutation_p.A1048T|ANK3_ENST00000503366.1_Missense_Mutation_p.A1055T NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1054 ZU5. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 AAAAATTGTGCCCCTGCAGGA 0.453000 4 276 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12575498 12575498 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr19:12575498G>A ENST00000397732.3 - 4 1409 c.1238C>T c.(1237-1239)aCt>aTt p.T413I ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T413I(2) large_intestine(3)|upper_aerodigestive_tract(3) 6 TCCAGTGTGAGTTCTTTCATG 0.418000 8 809 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371669 109371669 + Missense_Mutation SNP A A G TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr2:109371669A>G ENST00000283195.6 + 17 2546 c.2420A>G c.(2419-2421)cAg>cGg p.Q807R NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 807 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GCAGAAGATCAGAATTCTTTA 0.333000 8 1275 0 0 1 0 0 EPB41 2035 broad.mit.edu 37 1 29365900 29365900 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:29365900G>A ENST00000343067.4 + 11 1725 c.1598G>A c.(1597-1599)cGt>cAt p.R533H EPB41_ENST00000398863.2_Missense_Mutation_p.R533H|EPB41_ENST00000373797.1_Missense_Mutation_p.R533H|EPB41_ENST00000373798.1_Missense_Mutation_p.R533H|EPB41_ENST00000373800.3_Missense_Mutation_p.R324H|EPB41_ENST00000349460.4_Missense_Mutation_p.R324H|EPB41_ENST00000347529.3_Missense_Mutation_p.R498H|EPB41_ENST00000356093.2_Missense_Mutation_p.R533H NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 533 Hydrophilic. blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) CACTTCGAGCGTACAGCAAGT 0.463000 5 410 0 0 1 0 0 IGHG2 0 broad.mit.edu 37 14 106110437 106110437 + RNA SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr14:106110437C>T ENST00000390545.2 - 0 298 ACAACATTTGCGCTCTGCAGA 0.607000 7 858 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48650204 48650204 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:48650204G>A ENST00000352832.5 + 6 1408 c.1036G>A c.(1036-1038)Gcc>Acc p.A346T CACNA1G_ENST00000429973.2_Missense_Mutation_p.A346T|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000358244.5_Missense_Mutation_p.A346T|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A346T|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000503485.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000416767.4_Missense_Mutation_p.A346T|CACNA1G_ENST00000515765.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000515411.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000513689.2_Missense_Mutation_p.A346T|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000359106.5_Missense_Mutation_p.A346T|CACNA1G_ENST00000514079.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A346T|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A346T|CACNA1G_ENST00000507510.2_Missense_Mutation_p.A346T NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 346 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TGCCTGGATCGCCATCTTCCA 0.612000 5 255 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71054178 71054178 + Missense_Mutation SNP T T C rs117718337 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr16:71054178T>C ENST00000393567.2 - 22 3379 c.3229A>G c.(3229-3231)Ata>Gta p.I1077V HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1077 I -> V (in dbSNP:rs6416709). p.I1077V(3)|p.I1029V(3) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ATGTTCTTTATGGCCAAGGGC 0.418000 8 238 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106820980 106820980 + Missense_Mutation SNP A A T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr12:106820980A>T ENST00000228347.4 + 13 1329 c.1107A>T c.(1105-1107)ttA>ttT p.L369F POLR3B_ENST00000539066.1_Missense_Mutation_p.L311F|POLR3B_ENST00000549195.1_3'UTR NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 369 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTAGCTTTTATCTCTTCTTT 0.269000 19 96 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 5 281 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102516473 102516473 + RNA SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr15:102516473G>A ENST00000557932.1 + 0 1421 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 ATCCTAGGGGGCTCCATGACA 0.642000 15 432 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162304 90162304 + RNA SNP A A G TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr16:90162304A>G ENST00000567960.1 + 0 1040 TUBB8P7_ENST00000564451.1_RNA CTGGCTCCCCAACAACGTAAA 0.502000 10 948 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 5 638 0 0 1 0 0 CYP2F1 1572 broad.mit.edu 37 19 41626275 41626275 + Nonsense_Mutation SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr19:41626275C>T ENST00000331105.2 + 4 430 c.358C>T c.(358-360)Cga>Tga p.R120* NM_000774.3 NP_000765.2 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, polypeptide 1 120 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.R120*(1) central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 CAGTGGGGATCGATGGAAGGT 0.562000 7 492 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 8 630 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7734509 7734509 + Silent SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:7734509C>T ENST00000572933.1 + 80 13796 c.12336C>T c.(12334-12336)ggC>ggT p.G4112G DNAH2_ENST00000389173.2_Silent_p.G4112G Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 4112 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGGCCTTTGGCCAGCACCCCA 0.527000 8 1183 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15726525 15726525 + RNA SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr19:15726525G>A ENST00000441682.2 + 0 162 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 CTCCTGGCCCGCATCCTGGCC 0.672000 5 380 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270015 114270015 + Silent SNP A A G rs146945410 byFrequency TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr7:114270015A>G ENST00000393500.3 + 11 1147 c.327A>G c.(325-327)caA>caG p.Q109Q FOXP2_ENST00000403559.4_Silent_p.Q201Q|FOXP2_ENST00000393489.3_Silent_p.Q92Q|FOXP2_ENST00000378237.3_Silent_p.Q184Q|FOXP2_ENST00000393491.3_Silent_p.Q92Q|FOXP2_ENST00000393494.2_Silent_p.Q184Q|FOXP2_ENST00000393498.2_Silent_p.Q164Q|FOXP2_ENST00000350908.4_Silent_p.Q184Q|FOXP2_ENST00000390668.3_Silent_p.Q208Q|FOXP2_ENST00000360232.4_Silent_p.Q184Q|FOXP2_ENST00000408937.3_Silent_p.Q209Q O15409 FOXP2_HUMAN forkhead box P2 184 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcagcaacagcagcagc 0.502000 5 305 0 0 1 0 0 LAMP1 3916 broad.mit.edu 37 13 113964111 113964111 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr13:113964111G>A ENST00000332556.4 + 3 531 c.337G>A c.(337-339)Gtc>Atc p.V113I LAMP1_ENST00000397181.3_Missense_Mutation_p.V113I NM_005561.3 NP_005552.3 P11279 LAMP1_HUMAN lysosomal-associated membrane protein 1 113 First lumenal domain. endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction p.V113I(1) NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2) 16 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) ACGTTACAGCGTCCAGCTCAT 0.438000 10 757 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102293008 102293008 + RNA SNP A A G TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr15:102293008A>G ENST00000561463.1 + 0 1054 p.K171E(1) GCGTGGGAACAAGAAGACACT 0.582000 4 42 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40367841 40367841 + Silent SNP T T G TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr19:40367841T>G ENST00000221347.6 - 29 13126 c.13119A>C c.(13117-13119)gcA>gcC p.A4373A NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4373 TIL 10. extracellular region protein binding p.A4373A(2) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCGTAAGGGGTGCAGGGGACG 0.627000 32 164 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71429026 71429026 + Missense_Mutation SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr14:71429026C>T ENST00000304743.2 + 3 892 c.446C>T c.(445-447)gCc>gTc p.A149V PCNX_ENST00000439984.3_Missense_Mutation_p.A149V|PCNX_ENST00000238570.5_Missense_Mutation_p.A149V NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 149 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) AATTCTTATGCCGGTCTAGAT 0.478000 6 621 0 0 1 0 0 STAT3 6774 broad.mit.edu 37 17 40498723 40498723 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:40498723G>A ENST00000264657.5 - 3 449 c.137C>T c.(136-138)gCg>gTg p.A46V STAT3_ENST00000404395.3_Missense_Mutation_p.A46V|STAT3_ENST00000588969.1_Missense_Mutation_p.A46V|STAT3_ENST00000585517.1_Missense_Mutation_p.A46V|STAT3_ENST00000389272.3_5'UTR NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 46 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding p.A46V(2) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) TTTGCTGGCCGCATATGCCCT 0.433000 Hyperimmunoglobulin E Recurrent Infection Syndrome 6 936 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 6 23 3.09899e-07 3.18162e-07 1 1 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 5 396 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117783441 117783441 + Missense_Mutation SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr9:117783441C>T ENST00000350763.4 - 28 7012 c.6601G>A c.(6601-6603)Gca>Aca p.A2201T TNC_ENST00000341037.4_Missense_Mutation_p.A2019T|TNC_ENST00000537320.1_Missense_Mutation_p.A1564T|TNC_ENST00000340094.3_Missense_Mutation_p.A1837T|TNC_ENST00000346706.3_Missense_Mutation_p.A1655T|TNC_ENST00000345230.3_Missense_Mutation_p.A1564T|TNC_ENST00000423613.2_Missense_Mutation_p.A1928T|TNC_ENST00000542877.1_Missense_Mutation_p.A1838T|TNC_ENST00000535648.1_Missense_Mutation_p.A1746T NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 2201 cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GGAATTTATGCCCGTTTGCGC 0.502000 5 313 0 0 1 0 0 SVOPL 136306 broad.mit.edu 37 7 138341231 138341231 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr7:138341231G>A ENST00000419765.3 - 6 529 c.496C>T c.(496-498)Ccc>Tcc p.P166S SVOPL_ENST00000436657.1_Missense_Mutation_p.P14S|SVOPL_ENST00000421622.1_Intron|SVOPL_ENST00000288513.5_Missense_Mutation_p.P14S NM_001139456.1 NP_001132928.1 Q8N434 SVOPL_HUMAN SVOP-like 166 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 TATTTCGTGGGCAAAAATTCA 0.348000 8 991 0 0 1 0 0 TMEM106C 79022 broad.mit.edu 37 12 48359115 48359115 + Missense_Mutation SNP C C T rs146483924 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr12:48359115C>T ENST00000429772.2 + 3 351 c.238C>T c.(238-240)Cgc>Tgc p.R80C TMEM106C_ENST00000256686.6_Missense_Mutation_p.R80C|TMEM106C_ENST00000550552.1_Missense_Mutation_p.R80C|TMEM106C_ENST00000552561.1_Missense_Mutation_p.R80C|TMEM106C_ENST00000449758.2_Missense_Mutation_p.R80C|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000552546.1_Intron NM_001143842.1 NP_001137314.1 Q9BVX2 T106C_HUMAN transmembrane protein 106C 80 endoplasmic reticulum membrane|integral to membrane p.R80C(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1) 14 Acute lymphoblastic leukemia(13;0.11) GBM - Glioblastoma multiforme(48;0.241) TCAGAGATTGCGCCCTCAGCG 0.408000 5 463 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153907309 153907309 + Silent SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:153907309C>T ENST00000361217.4 - 18 3118 c.2700G>A c.(2698-2700)caG>caA p.Q900Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 900 Gln-rich. p.Q788Q(1)|p.Q900Q(1) NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgttgctgctgctgct 0.642000 4 229 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr20:29625885A>T ENST00000278882.3 + 5 509 c.129A>T c.(127-129)aaA>aaT p.K43N FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N|FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N p.K43N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCGCCCTGAAATCTGGCTATG 0.353000 6 484 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 5 601 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11022906 11022906 + Missense_Mutation SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr19:11022906C>T ENST00000327064.4 + 5 795 c.605C>T c.(604-606)gCc>gTc p.A202V CARM1_ENST00000344150.4_Missense_Mutation_p.A202V NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 202 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding p.A202V(2) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TCGTTTTTTGCCGCCCAAGCT 0.622000 7 1250 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125397946 125397946 + Silent SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr12:125397946C>T ENST00000536769.1 - 1 1948 c.372G>A c.(370-372)aaG>aaA p.K124K UBC_ENST00000339647.5_Silent_p.K124K|UBC_ENST00000546120.1_Intron|UBC_ENST00000538617.1_Silent_p.K124K P0CG48 UBC_HUMAN ubiquitin C 124 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.K124K(1) breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CTTCCAGCTGCTTTCCGGCAA 0.542000 7 822 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78343322 78343322 + Missense_Mutation SNP C C T rs142466553 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:78343322C>T ENST00000582970.1 + 45 12319 c.12176C>T c.(12175-12177)gCc>gTc p.A4059V CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.A2132V|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.A4108V NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GAAAAGCATGCCCGCTTCCGG 0.498000 5 608 0 0 1 0 0 HEXIM1 10614 broad.mit.edu 37 17 43226487 43226487 + Translation_Start_Site SNP A A T rs71797253 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:43226487A>T ENST00000332499.2 + 0 1804 NM_006460.2 NP_006451.1 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 tcttttttttAAGAAAAACCC 0.373000 OREG0024474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 240 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110438 29110438 + RNA SNP T T C TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr16:29110438T>C ENST00000564580.1 + 0 1111 p.L368P(6) TTGCAGTATCTTCAGAGTCTG 0.328000 6 469 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155255062 155255062 + RNA SNP C C G TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chrX:155255062C>G ENST00000285718.7 + 0 1367 WASH6P_ENST00000461007.1_RNA CACCTTCCCCCCCAGACCCAG 0.627000 11 102 0 0 1 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17172170 17172170 + Missense_Mutation SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr11:17172170C>T ENST00000265970.7 - 3 1201 c.1202G>A c.(1201-1203)cGc>cAc p.R401H PIK3C2A_ENST00000540361.1_Missense_Mutation_p.R21H|PIK3C2A_ENST00000531428.1_5'UTR NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 401 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity p.R401H(1) central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) TGGGTTTGTGCGGTGATTGGT 0.373000 7 382 0 0 1 0 0 CLCN6 1185 broad.mit.edu 37 1 11883815 11883815 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:11883815G>A ENST00000346436.6 + 7 557 c.505G>A c.(505-507)Gta>Ata p.V169I CLCN6_ENST00000376496.3_Missense_Mutation_p.V169I|CLCN6_ENST00000312413.6_Missense_Mutation_p.V169I|CLCN6_ENST00000376487.3_Missense_Mutation_p.V147I|CLCN6_ENST00000376492.3_3'UTR NM_001286.3 NP_001277.1 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 169 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCTGAATGGCGTAAAGGTGCC 0.552000 5 358 0 0 1 0 0 KRTAP10-3 386682 broad.mit.edu 37 21 45978218 45978218 + Silent SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr21:45978218G>A ENST00000391620.1 - 1 425 c.381C>T c.(379-381)ccC>ccT p.P127P TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198696.2 NP_941969.2 P60369 KR103_HUMAN keratin associated protein 10-3 127 18 X 5 AA repeats of C-C-X(3). keratin filament kidney(1)|lung(4)|prostate(1)|skin(1) 7 CAGAgcagacgggcacacagc 0.657000 7 976 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216011345 216011345 + Missense_Mutation SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:216011345C>T ENST00000366943.2 - 47 9745 c.9359G>A c.(9358-9360)gGc>gAc p.G3120D USH2A_ENST00000307340.3_Missense_Mutation_p.G3120D O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3120 Fibronectin type-III 18. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGAAGTGATGCCACGAATTGT 0.388000 HNSCC(13;0.011) 8 566 0 0 1 0 0 TACC3 10460 broad.mit.edu 37 4 1725247 1725247 + Silent SNP G G A rs142473170 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr4:1725247G>A ENST00000313288.4 + 2 205 c.99G>A c.(97-99)tcG>tcA p.S33S NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 33 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) CCGGAAGATCGTCTGTTCTTC 0.448000 5 201 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371685 109371685 + Missense_Mutation SNP A A T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr2:109371685A>T ENST00000283195.6 + 17 2562 c.2436A>T c.(2434-2436)aaA>aaT p.K812N NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 812 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CTTTACTGAAAATGATTTGCC 0.348000 9 1220 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155255043 155255043 + RNA SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chrX:155255043G>A ENST00000285718.7 + 0 1348 WASH6P_ENST00000461007.1_RNA ATCCTAGGGGGCTCCATGACA 0.642000 9 111 0 0 1 0 0 FASTKD2 22868 broad.mit.edu 37 2 207631976 207631976 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr2:207631976G>A ENST00000236980.6 + 2 907 c.559G>A c.(559-561)Gca>Aca p.A187T FASTKD2_ENST00000402774.3_Missense_Mutation_p.A187T|FASTKD2_ENST00000403094.3_Missense_Mutation_p.A187T NM_014929.3 NP_055744.2 Q9NYY8 FAKD2_HUMAN FAST kinase domains 2 187 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2) 21 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) CTATTTCACAGCAATGTGGAC 0.408000 6 881 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7644311 7644311 + Splice_Site SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:7644311G>A ENST00000572933.1 + 11 3149 c.e11+1 DNAH2_ENST00000082259.3_Splice_Site|DNAH2_ENST00000389173.2_Splice_Site|DNAH2_ENST00000570791.1_Splice_Site Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGTCATGACCGTAAGTGCCTG 0.592000 5 340 0 0 1 0 0 AL928742.12 0 broad.mit.edu 37 14 106066370 106066370 + RNA SNP T T C rs1134593 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr14:106066370T>C ENST00000412518.1 - 0 6 IGHE_ENST00000577108.1_RNA|IGHE_ENST00000576077.1_RNA CACAGCTGGATGGAGCCCTGG 0.602000 14 395 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 19 171 0 0 1 0 0 FOXN1 8456 broad.mit.edu 37 17 26861380 26861380 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:26861380G>A ENST00000226247.2 + 6 988 c.959G>A c.(958-960)cGg>cAg p.R320Q FOXN1_ENST00000579795.1_Missense_Mutation_p.R320Q NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 320 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.R320Q(1) endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) AATTCTGTCCGGCACAACCTA 0.577000 6 380 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 6 285 0.00116845 0.00117608 1 1 0 NMT1 4836 broad.mit.edu 37 17 43181080 43181080 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:43181080G>A ENST00000592782.1 + 11 1299 c.1168G>A c.(1168-1170)Gca>Aca p.A390T NMT1_ENST00000258960.2_Missense_Mutation_p.A390T P30419 NMT1_HUMAN N-myristoyltransferase 1 390 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 8 Prostate(33;0.155) CCTTCAGAACGCAAACGGAGA 0.493000 7 824 0 0 1 0 0 GPR65 0 broad.mit.edu 37 14 88477517 88477517 + Missense_Mutation SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr14:88477517C>T ENST00000267549.3 + 2 884 c.326C>T c.(325-327)gCc>gTc p.A109V RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 109 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity p.A109V(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 ACCTGCATTGCCGTTGATCGG 0.428000 8 1045 0 0 1 0 0 RILPL2 196383 broad.mit.edu 37 12 123900448 123900448 + Missense_Mutation SNP T T C TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr12:123900448T>C ENST00000280571.8 - 4 922 c.626A>G c.(625-627)aAa>aGa p.K209R NM_145058.1 NP_659495.1 Q969X0 RIPL2_HUMAN Rab interacting lysosomal protein-like 2 209 cytosol|plasma membrane identical protein binding endometrium(1)|large_intestine(2)|lung(2)|skin(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168) CTAGGTCTGTTTCCCCGATCG 0.502000 7 1319 0 0 1 0 0 PI4KAP2 0 broad.mit.edu 37 22 21829507 21829507 + RNA SNP G G A rs140118179 by1000genomes TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr22:21829507G>A ENST00000450651.1 - 0 1831 endometrium(3)|urinary_tract(1) 4 TACTTCAAGAGCTTGATTGTC 0.542000 21 42 0 0 1 0 0 IGKV1-5 0 broad.mit.edu 37 2 89247307 89247307 + RNA SNP C C G TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr2:89247307C>G ENST00000496168.1 - 0 168 TGTGTCCTGACTGGGTCTGAC 0.562000 7 641 0 0 1 0 0 SEC31B 25956 broad.mit.edu 37 10 102257434 102257434 + Silent SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr10:102257434G>A ENST00000370345.3 - 16 2077 c.1980C>T c.(1978-1980)ccC>ccT p.P660P NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 660 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane p.P660P(1) NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CACAGAGCTCGGGAAATTTCT 0.512000 5 283 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32937431 32937431 + Missense_Mutation SNP G G A rs80359052 by1000genomes TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr13:32937431G>A ENST00000544455.1 + 18 8319 c.8092G>A c.(8092-8094)Gca>Aca p.A2698T BRCA2_ENST00000380152.3_Missense_Mutation_p.A2698T NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 2698 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding p.S2697fs*31(1) NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TTCATTGAGCGCAAATATATC 0.378000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 5 509 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 10 315 0 0 1 0 0 IL34 146433 broad.mit.edu 37 16 70693984 70693984 + Missense_Mutation SNP C C T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr16:70693984C>T ENST00000429149.2 + 7 1178 c.623C>T c.(622-624)gCg>gTg p.A208V IL34_ENST00000288098.2_Missense_Mutation_p.A208V|IL34_ENST00000566361.1_Missense_Mutation_p.A183V NM_001172771.1|NM_152456.2 NP_001166242.1|NP_689669.2 Q6ZMJ4 IL34_HUMAN interleukin 34 208 positive regulation of cell proliferation|positive regulation of protein phosphorylation extracellular space cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding p.A208V(1) breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2) 17 TTGCAGTATGCGGCCACCCAG 0.647000 7 727 0 0 1 0 0 YIPF3 25844 broad.mit.edu 37 6 43480503 43480503 + Missense_Mutation SNP C C A rs149789583 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr6:43480503C>A ENST00000372422.2 - 7 958 c.776G>T c.(775-777)cGc>cTc p.R259L YIPF3_ENST00000506469.1_Missense_Mutation_p.R265L NM_015388.3 NP_056203.2 Q9GZM5 YIPF3_HUMAN Yip1 domain family, member 3 259 cell differentiation integral to membrane|plasma membrane|transport vesicle large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1) 9 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) GCTTACCATGCGCAGTGTGGA 0.557000 4 151 0.150653 0.150653 1 1 0 LRCH1 23143 broad.mit.edu 37 13 47315978 47315978 + Missense_Mutation SNP G G A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr13:47315978G>A ENST00000389798.3 + 19 2379 c.2182G>A c.(2182-2184)Gca>Aca p.A728T LRCH1_ENST00000389797.3_Missense_Mutation_p.A763T|LRCH1_ENST00000311191.6_Intron NM_015116.2 NP_055931.1 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 728 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) TGCTCTGTCCGCATAATGTCT 0.502000 9 903 0 0 1 0 0 PHF13 148479 broad.mit.edu 37 1 6680069 6680071 + In_Frame_Del DEL GAA GAA - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:6680069_6680071delGAA ENST00000377648.4 + 3 730_732 c.348_350delGAA c.(346-351)ctg>ct p.LK116del PHF13_ENST00000495385.1_Intron NM_153812.2 NP_722519.2 Q86YI8 PHF13_HUMAN PHD finger protein 13 116 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) cggacaagctgaagaagaagaag 0.576 7 294 --- --- --- --- EXOSC10 5394 broad.mit.edu 37 1 11128120 11128120 + Frame_Shift_Del DEL T T - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:11128120delT ENST00000376936.4 - 24 2621 c.2572delA c.(2572-2574)ttfs p.I858fs EXOSC10_ENST00000304457.7_Frame_Shift_Del_p.I833fs|EXOSC10_ENST00000544779.1_3'UTR NM_001001998.1 NP_001001998.1 Q01780 EXOSX_HUMAN exosome component 10 858 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) GACTGTTTAATTTTTTTGGCT 0.478 10 577 --- --- --- --- ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 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;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 7 318 --- --- --- --- PTPRF 5792 broad.mit.edu 37 1 44071946 44071948 + In_Frame_Del DEL GCG GCG - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:44071946_44071948delGCG ENST00000359947.4 + 20 3859_3861 c.3519_3521delGCG c.(3517-3522)cag>ca p.QR1173del PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000496447.1_3'UTR NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1173 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGAGGAGCAGCGGCGGCGGCGG 0.631 8 503 --- --- --- --- ZCCHC11 23318 broad.mit.edu 37 1 52991653 52991653 + Frame_Shift_Del DEL T T - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:52991653delT ENST00000371544.3 - 2 562 c.300delA c.(298-300)aafs p.K100fs ZCCHC11_ENST00000355809.4_Frame_Shift_Del_p.K100fs|ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.K100fs NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 100 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 AATTAGGAAATTTTTTTGCTT 0.388 7 998 --- --- --- --- ST6GALNAC5 81849 broad.mit.edu 37 1 77334277 77334279 + In_Frame_Del DEL GCA GCA - rs113832855 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:77334277_77334279delGCA ENST00000477717.1 + 2 346_348 c.111_113delGCA c.(109-114)ccg>cc p.PQ37del ST6GALNAC5_ENST00000496845.1_3'UTR NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 37 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 AGCGGCCCCCgcagcagcagcag 0.700 8 259 --- --- --- --- RP4-651E10.4 0 broad.mit.edu 37 1 87102268 87102269 + RNA INS - - TGTG rs144267206 by1000genomes TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:87102268_87102269insTGTG ENST00000456587.1 - 0 294 CLCA3P_ENST00000466454.1_RNA TTATATTTCTCtgtgtgtgtgt 0.332 5 4 --- --- --- --- RBMXL1 494115 broad.mit.edu 37 1 89448604 89448605 + Frame_Shift_Ins INS - - GG TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:89448604_89448605insGG ENST00000399794.2 - 3 1620_1621 c.905_906insCC c.(904-906)ctcfs p.L302fs RBMXL1_ENST00000321792.5_Frame_Shift_Ins_p.L302fs|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron NM_001162536.2 NP_001156008.1 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 302 Ser-rich. nucleotide binding|RNA binding CACCATAAGATGGCGGGGGCCC 0.475 23 1106 --- --- --- --- CDC7 8317 broad.mit.edu 37 1 91967356 91967357 + Frame_Shift_Ins INS - - A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:91967356_91967357insA ENST00000428239.1 + 2 342_343 c.83_84insA c.(82-84)taafs p.*28fs CDC7_ENST00000234626.6_Frame_Shift_Ins_p.*28fs|CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000430031.2_Frame_Shift_Ins_p.*28fs NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 28 cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) GAAGGCTCTTTAAAAAAAAACG 0.406 11 545 --- --- --- --- BRDT 676 broad.mit.edu 37 1 92447228 92447230 + In_Frame_Del DEL AGC AGC - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:92447228_92447230delAGC ENST00000370389.2 + 12 2623_2625 c.1699_1701delAGC c.(1699-1701)del p.S575del BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 648 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) ACTGAGTGAGagcagcagcagca 0.419 8 502 --- --- --- --- SPAG17 200162 broad.mit.edu 37 1 118693199 118693199 + Frame_Shift_Del DEL T T - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:118693199delT ENST00000336338.5 - 3 347 c.282delA c.(280-282)aafs p.K94fs NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 94 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CACCTACAGGTTTTTTTGCCT 0.254 10 937 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 11 89 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121137698 121137699 + RNA INS - - TT rs57730437 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:121137698_121137699insTT ENST00000437515.1 - 0 329 CTACTTACATCTTTTTGTCTTT 0.441 15 170 --- --- --- --- ADAMTSL4 54507 broad.mit.edu 37 1 150530506 150530506 + Frame_Shift_Del DEL G G - rs149280379 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:150530506delG ENST00000271643.4 + 14 2499 c.2263delG c.(2263-2265)ggfs p.G758fs ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 758 TSP type-1 2. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCAGGAATTTGGGGGGGGTGG 0.692 9 652 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 8 457 --- --- --- --- SCYL3 57147 broad.mit.edu 37 1 169833511 169833511 + Splice_Site DEL T T - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:169833511delT ENST00000367772.4 - 9 1151 c.955_splice c.e9+1 p.K318_splice SCYL3_ENST00000367770.1_Splice_Site_p.K318_splice|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.5_Splice_Site_p.K318_splice NM_181093.3 NP_851607.2 Q8IZE3 PACE1_HUMAN SCY1-like 3 (S. cerevisiae) 318 cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGCATTCACCTTTTTTGGGGC 0.393 7 846 --- --- --- --- APOBEC4 403314 broad.mit.edu 37 1 183616826 183616828 + In_Frame_Del DEL TTC TTC - rs141411396 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:183616826_183616828delTTC ENST00000308641.4 - 2 1360_1362 c.1089_1091delGAA c.(1087-1092)aaa>aa p.KK363del RGL1_ENST00000367531.1_Intron|RGL1_ENST00000304685.3_Intron|RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_5'UTR NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 363 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 TTTCTTCCCTTTCTTCTTCTTCT 0.419 8 659 --- --- --- --- GPR25 2848 broad.mit.edu 37 1 200842776 200842778 + In_Frame_Del DEL TGC TGC - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:200842776_200842778delTGC ENST00000304244.2 + 1 694_696 c.611_613delTGC c.(610-615)ttg>t p.LL208del NM_005298.2 NP_005289.2 O00155 GPR25_HUMAN G protein-coupled receptor 25 208 Poly-Leu. integral to plasma membrane large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 GGCCTCAGCTTGCTGCTGCTGCT 0.724 7 122 --- --- --- --- RYR2 6262 broad.mit.edu 37 1 237969494 237969494 + Frame_Shift_Del DEL T T - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr1:237969494delT ENST00000366574.2 + 99 14526 c.14209delT c.(14209-14211)ttfs p.F4739fs RYR2_ENST00000360064.6_Frame_Shift_Del_p.F4745fs|RYR2_ENST00000542537.1_Frame_Shift_Del_p.F4723fs NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4739 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTATAACAACTTTTTTTTTGC 0.403 8 207 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 8 823 --- --- --- --- CCDC88A 55704 broad.mit.edu 37 2 55549818 55549818 + Frame_Shift_Del DEL T T - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr2:55549818delT ENST00000436346.1 - 18 3849 c.3008delA c.(3007-3009)atfs p.N1003fs AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1003 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 AGCTTCATAATTTTTTTTCAC 0.353 7 478 --- --- --- --- IGKV1D-8 0 broad.mit.edu 37 2 90259860 90259861 + RNA INS - - C TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr2:90259860_90259861insC ENST00000471857.1 + 0 236 AATTTACTCAGCCAATGTGCTC 0.480 7 753 --- --- --- --- TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr2:98427639delT ENST00000186436.5 - 18 2148 c.1920delA c.(1918-1920)aafs p.K640fs NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 640 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TCCCCTCTAATTTTTTTGCAG 0.393 13 1180 --- --- --- --- ERCC3 2071 broad.mit.edu 37 2 128046944 128046946 + In_Frame_Del DEL TCT TCT - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr2:128046944_128046946delTCT ENST00000493187.2 - 6 1060_1062 c.597_599delAGA c.(595-600)gag>ga p.EE199del ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 263 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TGTCTGTGTCTCTTCTTCTTCTT 0.473 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 7 295 --- --- --- --- IFIH1 64135 broad.mit.edu 37 2 163134715 163134716 + Splice_Site INS - - T rs150760072 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr2:163134715_163134716insT ENST00000263642.2 - 9 2159_2160 c.1765_splice c.e9+1 p.NC588_splice NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 588 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 CCTAAATTACCTTTTTTTTCCA 0.327 12 638 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr2:218712887_218712889delGCT ENST00000171887.4 - 17 2428_2430 c.1976_1978delAGC c.(1975-1980)cct>c p.QP659del TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del|TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 659 Gln-rich. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGTGGGCGAGgctgctgctgctg 0.660 12 87 --- --- --- --- EFHD1 80303 broad.mit.edu 37 2 233546363 233546365 + In_Frame_Del DEL GGA GGA - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr2:233546363_233546365delGGA ENST00000264059.3 + 4 1131_1133 c.654_656delGGA c.(652-657)cgg>cg p.RE218del EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del|EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del NM_025202.3 NP_079478.1 Q9BUP0 EFHD1_HUMAN EF-hand domain family, member D1 218 calcium ion binding|protein binding NS(1)|breast(1)|large_intestine(2)|lung(3) 7 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025) Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101) AGCGGAAGCGGGAGGAGGAGGAG 0.547 8 558 --- --- --- --- DLEC1 9940 broad.mit.edu 37 3 38162039 38162040 + Frame_Shift_Del DEL GA GA - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr3:38162039_38162040delGA ENST00000308059.6 + 34 4826_4827 c.4805_4806delGA c.(4804-4806)gfs p.G1602fs DLEC1_ENST00000346219.3_Frame_Shift_Del_p.G1602fs|DLEC1_ENST00000452631.2_Frame_Shift_Del_p.G1605fs Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 1602 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) AGTGCGAGTGGAGAGAGAGAGA 0.579 7 325 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr3:53529193_53529195delGAT ENST00000288139.3 + 0 118_120 CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 11 543 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr3:55733470_55733472delTGG ENST00000288221.6 - 16 3036_3038 c.2781_2783delCCA c.(2779-2784)cat>ca p.HH931del NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 931 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.502 13 1143 --- --- --- --- SLC9C1 285335 broad.mit.edu 37 3 111923223 111923223 + Frame_Shift_Del DEL A A - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr3:111923223delA ENST00000305815.5 - 17 2266 c.2014delT c.(2014-2016)cafs p.S672fs SLC9C1_ENST00000487372.1_Frame_Shift_Del_p.S624fs NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 672 Ion transport-like. cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity CAGGCATGTGAAAAAAAGTCC 0.294 8 1748 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 9 427 --- --- --- --- ATP13A3 79572 broad.mit.edu 37 3 194181471 194181473 + In_Frame_Del DEL GAG GAG - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr3:194181471_194181473delGAG ENST00000439040.1 - 4 930_932 c.139_141delCTC c.(139-141)del p.L47del ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del Q9H7F0 AT133_HUMAN ATPase type 13A3 47 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) GCATCCAATAGAGGAGGAGGAGG 0.463 7 590 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1388441 1388442 + Frame_Shift_Ins INS - - CG rs144787346 byFrequency TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr4:1388441_1388442insCG ENST00000324803.4 + 1 3102_3103 c.142_143insCG c.(142-144)gccfs p.A48fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 48 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CTGCTCACACATGCCCATGTGG 0.644 15 1919 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1388504 1388505 + Frame_Shift_Del DEL CG CG - rs115485610 byFrequency TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr4:1388504_1388505delCG ENST00000324803.4 + 1 3165_3166 c.205_206delCG c.(205-207)tfs p.R69fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 69 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) TGCTCACACACGTGTCCATGTG 0.629 63 1662 --- --- --- --- LIAS 11019 broad.mit.edu 37 4 39462463 39462464 + Frame_Shift_Ins INS - - A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr4:39462463_39462464insA ENST00000261434.3 + 2 217_218 c.99_100insA c.(97-102)gaaaaafs p.EK33fs LIAS_ENST00000340169.2_Frame_Shift_Ins_p.EK33fs|LIAS_ENST00000381846.1_Frame_Shift_Ins_p.EK33fs|LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000513731.1_Frame_Shift_Ins_p.EK33fs NM_006859.2 NP_006850.2 O43766 LIAS_HUMAN lipoic acid synthetase 33 inflammatory response|response to lipopolysaccharide|response to oxidative stress mitochondrion 4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding p.K36fs*31(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2) 12 Lipoic Acid(DB00166) CCTTGCCAGATAAAAAAAAGGA 0.391 10 897 --- --- --- --- HPSE 10855 broad.mit.edu 37 4 84216533 84216533 + Frame_Shift_Del DEL A A - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr4:84216533delA ENST00000405413.2 - 13 1732 c.1596delT c.(1594-1596)ttfs p.F532fs HPSE_ENST00000512196.1_Frame_Shift_Del_p.F458fs|HPSE_ENST00000513463.1_Frame_Shift_Del_p.F474fs|HPSE_ENST00000311412.5_Frame_Shift_Del_p.F532fs NM_006665.5 NP_006656.2 Q9Y251 HPSE_HUMAN heparanase 532 Required for transferring proheparanase to the Golgi apparatus, secretion and subsequent enzyme activity and for enhancement of PKB/AKT1 phosphorylation. carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 20 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) TTCTTATCACAAAAAAACTAT 0.383 7 534 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 218 OTU. protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CCATTCACATCAGCAGCAGCAGC 0.340 7 488 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79970914 79970915 + Frame_Shift_Ins INS - - A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr5:79970914_79970915insA ENST00000265081.6 + 7 1220_1221 c.1140_1141insA c.(1138-1143)gaaaaafs p.EK380fs NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 380 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) ATGTTAGGGACAAAAAAAAGGG 0.347 Mismatch excision repair (MMR) 10 809 --- --- --- --- IK 3550 broad.mit.edu 37 5 140032593 140032594 + Frame_Shift_Del DEL GA GA - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr5:140032593_140032594delGA ENST00000417647.2 + 5 407_408 c.268_269delGA c.(268-270)gfs p.E90fs IK_ENST00000523672.1_3'UTR NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II 90 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAAGAAATTGAGAGAGAGAGA 0.460 8 190 --- --- --- --- DND1 373863 broad.mit.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr5:140052285delT ENST00000542735.1 - 3 392 c.349delA c.(349-351)cgfs p.T117fs NM_194249.2 NP_919225.1 Q8IYX4 DND1_HUMAN DND microRNA-mediated repression inhibitor 1 117 RRM 1. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding p.T117fs*24(1) central_nervous_system(1)|prostate(4) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTGCAGCGTGGCGATGGCG 0.682 8 71 --- --- --- --- PCDHA9 0 broad.mit.edu 37 5 140230590 140230590 + Frame_Shift_Del DEL T T - rs17844337 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr5:140230590delT ENST00000378122.3 + 1 3234 c.2510delT c.(2509-2511)atfs p.I837fs PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCCAGCAGATTTTTTTTCTG 0.279 9 1613 --- --- --- --- TIMD4 91937 broad.mit.edu 37 5 156378745 156378747 + In_Frame_Del DEL TTG TTG - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr5:156378745_156378747delTTG ENST00000274532.2 - 3 511_513 c.455_457delCAA c.(454-459)agc>a p.TS152del TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 152 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGTGGGGCTTGTTGTTGTTGT 0.537 9 1512 --- --- --- --- NUP153 9972 broad.mit.edu 37 6 17637644 17637644 + Frame_Shift_Del DEL T T - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr6:17637644delT ENST00000262077.2 - 16 2203 c.2204delA c.(2203-2205)atfs p.N735fs NUP153_ENST00000537253.1_Frame_Shift_Del_p.N766fs NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 735 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) TTCAGGTTTATTTTGCACTAA 0.428 7 1212 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422388 26422390 + RNA DEL CCT CCT - rs113134648 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr6:26422388_26422390delCCT ENST00000466808.2 + 0 42_44 GGCCAGCCTCCCTCCTCCTCCTC 0.586 13 556 --- --- --- --- PHF3 23469 broad.mit.edu 37 6 64394097 64394097 + Frame_Shift_Del DEL A A - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr6:64394097delA ENST00000262043.3 + 4 814 c.474delA c.(472-474)acfs p.T158fs PHF3_ENST00000393387.1_Frame_Shift_Del_p.T158fs|PHF3_ENST00000509330.1_Frame_Shift_Del_p.T158fs Q92576 PHF3_HUMAN PHD finger protein 3 158 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TAAGTAACACAAAAAAAGCAT 0.383 7 1185 --- --- --- --- CYB5R4 51167 broad.mit.edu 37 6 84634230 84634231 + Frame_Shift_Ins INS - - A TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr6:84634230_84634231insA ENST00000369681.4 + 10 873_874 c.733_734insA c.(733-735)aaafs p.K245fs NM_016230.3 NP_057314.2 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 245 CS. cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) GATTGTTCTACAAAAAAAAGAG 0.337 7 512 --- --- --- --- C6orf165 154313 broad.mit.edu 37 6 88144700 88144700 + Frame_Shift_Del DEL A A - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr6:88144700delA ENST00000507897.1 + 11 1506 c.1423delA c.(1423-1425)aafs p.K476fs C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 476 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AGAAAAGGCCAAAAAAAATAC 0.269 10 632 --- --- --- --- GABRR1 2569 broad.mit.edu 37 6 89891719 89891721 + In_Frame_Del DEL AAG AAG - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr6:89891719_89891721delAAG ENST00000435811.1 - 7 1255_1257 c.801_803delCTT c.(799-804)ttg>tt p.FL267del GABRR1_ENST00000369451.3_In_Frame_Del_p.FL197del|GABRR1_ENST00000454853.2_In_Frame_Del_p.FL284del NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 284 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) AGTTTGGAGCAAGAAGAAGAAGA 0.522 8 476 --- --- --- --- GABRR2 2570 broad.mit.edu 37 6 89975427 89975429 + In_Frame_Del DEL AAG AAG - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr6:89975427_89975429delAAG ENST00000402938.3 - 7 925_927 c.792_794delCTT c.(790-795)ttg>tt p.FL264del GABRR2_ENST00000602399.1_In_Frame_Del_p.FL289del P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 2 289 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1) 21 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) TGTTTGGAGCAAGAAGAAGAAGA 0.517 10 330 --- --- --- --- ZBTB24 9841 broad.mit.edu 37 6 109802729 109802729 + Frame_Shift_Del DEL T T - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr6:109802729delT ENST00000230122.3 - 2 668 c.501delA c.(499-501)aafs p.K167fs NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 167 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) ATGTATTGACTTTTTTTGGTC 0.418 9 1135 --- --- --- --- SOGA3 387104 broad.mit.edu 37 6 127804080 127804080 + Frame_Shift_Del DEL T T - rs34142169 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr6:127804080delT ENST00000556132.1 - 5 2399 c.1535delA c.(1534-1536)agfs p.K512fs SOGA3_ENST00000525778.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 512 integral to membrane CTGTTGAGCCTTTTTTTCAGA 0.294 11 924 --- --- --- --- CCDC28A 25901 broad.mit.edu 37 6 139097330 139097330 + Frame_Shift_Del DEL A A - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr6:139097330delA ENST00000332797.6 + 2 498 c.343delA c.(343-345)aafs p.K116fs NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 116 p.N117fs*5(2) autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) TGTCAATGCCAAAAAAAATGC 0.413 7 526 --- --- --- --- UTRN 7402 broad.mit.edu 37 6 144769847 144769849 + In_Frame_Del DEL CCT CCT - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr6:144769847_144769849delCCT ENST00000367545.3 + 16 2014_2016 c.2014_2016delCCT c.(2014-2016)del p.P677del NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 677 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding p.P672H(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GCAGGAACTGCCTCCTCCTCCTC 0.409 7 424 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755630 146755632 + In_Frame_Del DEL GAC GAC - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr6:146755630_146755632delGAC ENST00000361719.2 + 9 3753_3755 c.3283_3285delGAC c.(3283-3285)del p.D1099del GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1099 Asp/Glu-rich (acidic). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCCGCCCGCGGACGACGACGACG 0.650 11 712 --- --- --- --- PLEKHG1 57480 broad.mit.edu 37 6 151161864 151161864 + Frame_Shift_Del DEL A A - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr6:151161864delA ENST00000367328.1 + 17 4302 c.3990delA c.(3988-3990)ccfs p.P1330fs PLEKHG1_ENST00000358517.2_Frame_Shift_Del_p.P1330fs NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 1330 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) CGCGCACTCCAAAAAAGCCGG 0.433 7 939 --- --- --- --- ZDHHC4 55146 broad.mit.edu 37 7 6621848 6621849 + Frame_Shift_Ins INS - - T rs34551853 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr7:6621848_6621849insT ENST00000396706.2 + 5 779_780 c.336_337insT c.(334-339)ctttttfs p.LF112fs ZDHHC4_ENST00000396707.2_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000405731.3_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000335965.6_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396713.2_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396709.1_Frame_Shift_Ins_p.LF112fs|AC079742.4_ENST00000434951.1_RNA Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 112 integral to membrane acyltransferase activity|zinc ion binding p.F115fs*3(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) GTGTAAACCTGTTTTTTTTCAC 0.450 9 881 --- --- --- --- MPP6 51678 broad.mit.edu 37 7 24705666 24705666 + Frame_Shift_Del DEL A A - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr7:24705666delA ENST00000396475.2 + 9 1209 c.910delA c.(910-912)aafs p.K308fs MPP6_ENST00000222644.4_Frame_Shift_Del_p.K308fs|MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 308 protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 TATAAGTAGCAAAAAAAAGAA 0.299 9 963 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 9 485 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150816 65150816 + RNA DEL A A - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr7:65150816delA ENST00000430126.2 + 0 757 TTCATCCCTCACCCCCCCCCC 0.463 13 117 --- --- --- --- LAMB4 22798 broad.mit.edu 37 7 107763584 107763584 + Frame_Shift_Del DEL A A - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr7:107763584delA ENST00000388781.3 - 2 109 c.26delT c.(25-27)tgfs p.L9fs LAMB4_ENST00000205386.4_Frame_Shift_Del_p.L9fs|LAMB4_ENST00000414450.2_Frame_Shift_Del_p.L9fs|LAMB4_ENST00000388780.3_Frame_Shift_Del_p.L9fs NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 9 cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 ACCAAGGTGCAAAAAAAGGGT 0.308 7 418 --- --- --- --- WASL 8976 broad.mit.edu 37 7 123329093 123329094 + Splice_Site DEL TA TA - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr7:123329093_123329094delTA ENST00000223023.4 - 10 1789 c.e10+1 NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 tctctctctctACCTGAAGAAT 0.431 9 943 --- --- --- --- DPYS 1807 broad.mit.edu 37 8 105440214 105440214 + Frame_Shift_Del DEL T T - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr8:105440214delT ENST00000351513.2 - 6 1218 c.1086delA c.(1084-1086)aafs p.K362fs NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 362 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCACCACGCCTTTTTCCCATA 0.478 7 1057 --- --- --- --- TSNARE1 203062 broad.mit.edu 37 8 143310866 143310868 + In_Frame_Del DEL GAT GAT - rs142964918 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr8:143310866_143310868delGAT ENST00000524325.1 - 13 1691_1693 c.1516_1518delATC c.(1516-1518)del p.I506del TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del|TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 507 Poly-Ile. vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CAGAGGTGGCGATGATGATGATG 0.512 8 289 --- --- --- --- KANK1 23189 broad.mit.edu 37 9 732475 732477 + In_Frame_Del DEL GAG GAG - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr9:732475_732477delGAG ENST00000382303.1 + 10 3755_3757 c.3103_3105delGAG c.(3103-3105)del p.E1039del KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1039 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TCTTGAAGAAGAGGAGGAGGAGG 0.463 7 554 --- --- --- --- SYT15 83849 broad.mit.edu 37 10 46969401 46969403 + In_Frame_Del DEL CAG CAG - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr10:46969401_46969403delCAG ENST00000374325.3 - 2 210_212 c.58_60delCTG c.(58-60)del p.L21del SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron NM_181519.2 NP_852660.1 Q9BQS2 SYT15_HUMAN synaptotagmin XV 21 integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 CCCCGATCAACAGCAGCAGCAGC 0.631 7 259 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61828745 61828747 + In_Frame_Del DEL GTG GTG - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr10:61828745_61828747delGTG ENST00000280772.1 - 37 12083_12085 c.11892_11894delCAC c.(11890-11895)act>ac p.TT3964del ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3964 Thr-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ggtggtggcagtggtggtggtgg 0.498 7 617 --- --- --- --- NDUFC2 4718 broad.mit.edu 37 11 77784147 77784147 + Frame_Shift_Del DEL A A - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr11:77784147delA ENST00000281031.4 - 2 681 c.207delT c.(205-207)ttfs p.F69fs NDUFC2_ENST00000534029.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Frame_Shift_Del_p.F69fs|NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2_ENST00000528164.1_Frame_Shift_Del_p.F69fs|NDUFC2_ENST00000525085.1_Intron|NDUFC2_ENST00000527806.1_Frame_Shift_Del_p.F69fs NM_001204055.1|NM_004549.5 NP_001190984.1|NP_004540.1 NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa p.F69fs*7(1) large_intestine(1)|lung(2)|prostate(1) 4 all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;2.15e-25) AATATCCAGCAAAAAAAAAGG 0.358 17 660 --- --- --- --- FOXJ2 55810 broad.mit.edu 37 12 8200558 8200560 + In_Frame_Del DEL CAG CAG - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr12:8200558_8200560delCAG ENST00000162391.3 + 7 2043_2045 c.898_900delCAG c.(898-900)del p.Q306del FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 306 Poly-Gln. embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) gccacctcaacagcagcagcagc 0.640 11 211 --- --- --- --- SLCO1B3 28234 broad.mit.edu 37 12 21028267 21028267 + Frame_Shift_Del DEL T T - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr12:21028267delT ENST00000381545.3 + 9 1045 c.826delT c.(826-828)ttfs p.F278fs LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 278 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) TTCCATACCATTTTTTTTCTT 0.363 9 528 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57605740 57605742 + In_Frame_Del DEL TGC TGC - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr12:57605740_57605742delTGC ENST00000243077.3 + 87 13755_13757 c.13289_13291delTGC c.(13288-13293)ttg>t p.LL4432del NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4432 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCTCTGCTGTTGCTGCTGCTGCT 0.557 7 667 --- --- --- --- XPOT 11260 broad.mit.edu 37 12 64812755 64812755 + Frame_Shift_Del DEL T T - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr12:64812755delT ENST00000332707.5 + 6 899 c.370delT c.(370-372)ttfs p.F126fs NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 126 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding p.F126fs*6(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) GTGGCCCAAGTTTTTTTTTGA 0.443 7 511 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 9 707 --- --- --- --- BRCA2 675 broad.mit.edu 37 13 32907421 32907421 + Frame_Shift_Del DEL A A - rs80359307 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr13:32907421delA ENST00000544455.1 + 10 2033 c.1806delA c.(1804-1806)ggfs p.G602fs BRCA2_ENST00000380152.3_Frame_Shift_Del_p.G602fs NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 602 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CTTATAAAGGAAAAAAAATAC 0.303 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 8 416 --- --- --- --- KIAA1704 0 broad.mit.edu 37 13 45580365 45580367 + In_Frame_Del DEL GAT GAT - rs138421508 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr13:45580365_45580367delGAT ENST00000361121.2 + 3 285_287 c.250_252delGAT c.(250-252)del p.D88del RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del Q8IXQ4 K1704_HUMAN 88 Poly-Asp. breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) Ggatgatgacgatgatgatgatg 0.335 9 1064 --- --- --- --- ZC3H13 23091 broad.mit.edu 37 13 46542016 46542017 + Frame_Shift_Del DEL CT CT - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr13:46542016_46542017delCT ENST00000242848.4 - 15 4291_4292 c.3943_3944delAG c.(3943-3945)gfs p.R1316fs ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs|ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1316 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) cgtatctctcctctctctctcg 0.495 7 550 --- --- --- --- SALL2 6297 broad.mit.edu 37 14 21991334 21991336 + In_Frame_Del DEL GGT GGT - rs113881459 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr14:21991334_21991336delGGT ENST00000327430.3 - 2 2820_2822 c.2526_2528delACC c.(2524-2529)cct>cc p.PP842del SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_In_Frame_Del_p.PP705del|SALL2_ENST00000317492.5_Intron NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 842 Poly-Pro. DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) CAGGCTGTCAGGTGGTGGTGGTG 0.571 7 432 --- --- --- --- MMP14 4323 broad.mit.edu 37 14 23312996 23312996 + Frame_Shift_Del DEL A A - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr14:23312996delA ENST00000311852.6 + 6 1189 c.928delA c.(928-930)aafs p.K310fs MMP14_ENST00000548162.1_3'UTR NM_004995.2 NP_004986.1 P50281 MMP14_HUMAN matrix metallopeptidase 14 (membrane-inserted) 310 extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) TGATAAACCCAAAAACCCCAC 0.577 7 620 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23341527 23341529 + In_Frame_Del DEL CCT CCT - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr14:23341527_23341529delCCT ENST00000359591.4 + 1 706_708 c.15_17delCCT c.(13-18)acc>ac p.TL5del LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 5 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TGTTGGCCACCCTCCTCCTCCTC 0.670 13 386 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921888 95921890 + In_Frame_Del DEL CTC CTC - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr14:95921888_95921890delCTC ENST00000334258.5 - 5 975_977 c.961_963delGAG c.(961-963)del p.E321del SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCGCAGCCGCTCCTCCTCCTCC 0.616 7 517 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr15:34393991_34393993delAGC ENST00000256545.4 - 1 156_158 c.48_50delGCT c.(46-51)cta>ct p.LL16del EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ATCCCCCGATAGCAGCAGCAGCA 0.665 11 776 --- --- --- --- NOX5 79400 broad.mit.edu 37 15 69331226 69331226 + Frame_Shift_Del DEL T T - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr15:69331226delT ENST00000260364.5 + 10 1648 c.1347delT c.(1345-1347)ccfs p.P449fs NOX5_ENST00000530406.2_Frame_Shift_Del_p.P439fs|NOX5_ENST00000455873.3_Frame_Shift_Del_p.P432fs|NOX5_ENST00000388866.3_Frame_Shift_Del_p.P467fs|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000448182.3_Frame_Shift_Del_p.P421fs Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 467 C-terminal catalytic region.|FAD-binding FR-type. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity p.H452fs*10(1) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 AGCGGCCCCCTTTTTTTCACT 0.537 7 1219 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102292971 102292974 + RNA DEL CTCA CTCA - rs75843814 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr15:102292971_102292974delCTCA ENST00000561463.1 + 0 1017_1020 GATGCTGCTTCTCAGAGCTGCTGT 0.583 12 82 --- --- --- --- SLC5A11 115584 broad.mit.edu 37 16 24921737 24921739 + In_Frame_Del DEL CAG CAG - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr16:24921737_24921739delCAG ENST00000347898.3 + 15 2383_2385 c.1761_1763delCAG c.(1759-1764)gcc>gc p.AS587del SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 587 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) TGCCAGAGGCCAGCAGCAGCAGC 0.542 9 322 --- --- --- --- ARHGAP17 55114 broad.mit.edu 37 16 24942180 24942180 + Frame_Shift_Del DEL G G - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr16:24942180delG ENST00000289968.6 - 19 2509 c.2440delC c.(2440-2442)aafs p.Q814fs ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Frame_Shift_Del_p.Q736fs NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 814 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) CCAGGAGGTTGGGGGGGTGGG 0.577 8 919 --- --- --- --- ITGAL 0 broad.mit.edu 37 16 30531249 30531251 + In_Frame_Del DEL GCT GCT - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr16:30531249_30531251delGCT ENST00000356798.6 + 30 3480_3482 c.3300_3302delGCT c.(3298-3303)ggg>gg p.GL1100del ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del|ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 1100 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GCATCGGGGGGCTGCTGCTGCTG 0.601 12 960 --- --- --- --- IRX6 79190 broad.mit.edu 37 16 55362674 55362676 + In_Frame_Del DEL GAG GAG - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr16:55362674_55362676delGAG ENST00000290552.7 + 5 2116_2118 c.784_786delGAG c.(784-786)del p.E268del RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 268 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCTggaggaagaggaggaggagg 0.626 9 353 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72991713 72991715 + In_Frame_Del DEL CCA CCA - rs4788682 by1000genomes TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr16:72991713_72991715delCCA ENST00000268489.5 - 2 3002_3004 c.2330_2332delTGG c.(2329-2334)gct>g p.VA777del ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 777 Poly-Ala. V -> A (in dbSNP:rs4788682). muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.V777V(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) gccgccgcagccaccgccgccgc 0.635 7 363 --- --- --- --- GSE1 23199 broad.mit.edu 37 16 85682289 85682290 + Frame_Shift_Ins INS - - C TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr16:85682289_85682290insC ENST00000253458.7 + 3 534_535 c.358_359insC c.(358-360)cccfs p.P120fs GSE1_ENST00000405402.2_Frame_Shift_Ins_p.P16fs|GSE1_ENST00000393243.1_Frame_Shift_Ins_p.P47fs NM_014615.2 NP_055430.1 Gse1 coiled-coil protein p.V123fs*2(1) CGTGCCCAGCACCCCCCCCGTG 0.688 11 450 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7495872 7495874 + In_Frame_Del DEL CGG CGG - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:7495872_7495874delCGG ENST00000250113.7 - 15 2107_2109 c.1773_1775delCCG c.(1771-1776)cgt>cg p.RR591del MPDU1_ENST00000423172.2_3'UTR NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 591 Poly-Arg. R -> P (in dbSNP:rs36013555). cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) ACCACGGTTACGGCGGCGGCGGC 0.547 7 1148 --- --- --- --- KDM6B 23135 broad.mit.edu 37 17 7751859 7751861 + In_Frame_Del DEL CAC CAC - rs59627144 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:7751859_7751861delCAC ENST00000254846.5 + 11 2642_2644 c.2253_2255delCAC c.(2251-2256)gtc>gt p.VT751del KDM6B_ENST00000448097.2_In_Frame_Del_p.VT751del NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 751 Pro-rich.|Thr-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CTGTCGCCGTcaccaccaccacc 0.650 11 156 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8415820 8415822 + In_Frame_Del DEL TTC TTC - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:8415820_8415822delTTC ENST00000360416.3 - 24 3037_3039 c.2899_2901delGAA c.(2899-2901)del p.E967del MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 936 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TTTGGTTTCTTTCTTCTTCTTCT 0.350 9 711 --- --- --- --- GIT1 28964 broad.mit.edu 37 17 27903281 27903281 + Frame_Shift_Del DEL G G - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:27903281delG ENST00000225394.3 - 14 1816 c.1568delC c.(1567-1569)ctfs p.P523fs GIT1_ENST00000579937.1_Frame_Shift_Del_p.P523fs|GIT1_ENST00000581348.1_Frame_Shift_Del_p.P532fs|GIT1_ENST00000394869.3_Frame_Shift_Del_p.P532fs|RP11-68I3.2_ENST00000581474.1_RNA NM_014030.3 NP_054749.2 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interacting ArfGAP 1 523 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) CTCGTCCCCAGGGGGGCCCCC 0.652 7 664 --- --- --- --- CCDC43 124808 broad.mit.edu 37 17 42756252 42756253 + Frame_Shift_Ins INS - - T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:42756252_42756253insT ENST00000315286.8 - 5 654_655 c.646_647insA c.(646-648)gacfs p.D216fs CCDC43_ENST00000457422.2_3'UTR|C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000588210.1_Frame_Shift_Ins_p.D219fs NM_144609.2 NP_653210.2 Q96MW1 CCD43_HUMAN coiled-coil domain containing 43 216 lung(2) 2 Prostate(33;0.0322) TCTCTGTGTCCTTTTTTTTTCC 0.465 9 144 --- --- --- --- LRRC37A 9884 broad.mit.edu 37 17 44409916 44409916 + Splice_Site DEL A A - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:44409916delA ENST00000320254.5 + 10 4707 c.e10-1 ARL17B_ENST00000575960.1_Intron|ARL17B_ENST00000575698.1_Intron|LRRC37A_ENST00000496930.1_Splice_Site|ARL17B_ENST00000434041.2_Intron|LRRC37A_ENST00000393465.3_Splice_Site|ARL17B_ENST00000570618.1_Intron NM_014834.4 NP_055649.4 A6NMS7 L37A1_HUMAN leucine rich repeat containing 37A integral to membrane endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1) 11 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) TTTTTTTTTTAGCTCAAAAAA 0.328 7 2276 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 9 95 --- --- --- --- C17orf72 92340 broad.mit.edu 37 17 62078556 62078556 + Frame_Shift_Del DEL C C - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:62078556delC ENST00000412177.1 + 4 370 c.356delC c.(355-357)tcfs p.S119fs C17orf72_ENST00000580752.1_Intron|C17orf72_ENST00000579184.1_Frame_Shift_Del_p.S112fs|C17orf72_ENST00000577953.1_Intron|C17orf72_ENST00000425164.3_Frame_Shift_Del_p.S119fs|C17orf72_ENST00000539996.1_Frame_Shift_Del_p.S69fs|C17orf72_ENST00000582540.1_Frame_Shift_Del_p.S68fs NM_001164257.1|NM_001191030.1 NP_001157729.1|NP_001177959.1 P0C7W0 CQ072_HUMAN chromosome 17 open reading frame 72 119 Pro-rich. TTGATGCCCTCCCCGGGTGCC 0.622 2 4 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141017 66141017 + RNA DEL C C - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr17:66141017delC ENST00000590019.1 - 0 70 AAGATTTCTACAAAAAAAAAA 0.323 9 414 --- --- --- --- SEH1L 81929 broad.mit.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr18:12986927_12986929delTCC ENST00000399892.2 + 9 1238_1240 c.1137_1139delTCC c.(1135-1140)ctt>ct p.LP379del SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA NM_001013437.1 NP_001013455.1 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 0 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 CCCAGCTCCTtcctcctcctcct 0.522 10 380 --- --- --- --- AP005901.1 0 broad.mit.edu 37 18 15316899 15316900 + RNA INS - - T TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr18:15316899_15316900insT ENST00000455308.2 - 0 659 NR_027417.1 ctttttttttgttttttttttt 0.426 4 4 --- --- --- --- WBP11P1 0 broad.mit.edu 37 18 30091782 30091782 + RNA DEL T T - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr18:30091782delT ENST00000567636.1 + 0 157 NR_003558.1 tttctttttctttttttttAA 0.418 7 283 --- --- --- --- ZADH2 284273 broad.mit.edu 37 18 72913980 72913980 + Frame_Shift_Del DEL T T - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr18:72913980delT ENST00000322342.3 - 2 814 c.525delA c.(523-525)aafs p.K175fs ZADH2_ENST00000537114.2_Frame_Shift_Del_p.K52fs NM_175907.4 NP_787103.1 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain containing 2 175 peroxisome oxidoreductase activity|zinc ion binding endometrium(3)|large_intestine(3)|lung(8)|skin(1) 15 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) TCACCAAAACTTTTTTCCCTT 0.517 7 2535 --- --- --- --- RETN 56729 broad.mit.edu 37 19 7734228 7734230 + In_Frame_Del DEL CTC CTC - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr19:7734228_7734230delCTC ENST00000221515.2 + 2 104_106 c.16_18delCTC c.(16-18)del p.L9del RETN_ENST00000381324.2_In_Frame_Del_p.L9del NM_001193374.1|NM_020415.3 NP_001180303.1|NP_065148.1 Q9HD89 RETN_HUMAN resistin 9 hormone activity ovary(1) 1 AGCTCTCTGTCTCCTCCTCCTCC 0.596 8 971 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10262139 10262139 + Frame_Shift_Del DEL T T - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr19:10262139delT ENST00000340748.4 - 23 2387 c.2152delA c.(2152-2154)tgfs p.M718fs DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 718 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CCCTGGTGCATTTTTTTGGGT 0.507 8 774 --- --- --- --- ZNF878 729747 broad.mit.edu 37 19 12155625 12155625 + Frame_Shift_Del DEL T T - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr19:12155625delT ENST00000602107.1 - 5 731 c.732delA c.(730-732)aafs p.K244fs CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Frame_Shift_Del_p.K197fs C9JN71 ZN878_HUMAN zinc finger protein 878 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 ATTCATAGGGTTTTTTTGCAG 0.398 7 1175 --- --- --- --- GADD45GIP1 90480 broad.mit.edu 37 19 13065273 13065275 + In_Frame_Del DEL GCT GCT - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr19:13065273_13065275delGCT ENST00000316939.1 - 2 439_441 c.416_418delAGC c.(415-420)cgg>c p.QR139del NM_052850.2 NP_443082.2 Q8TAE8 G45IP_HUMAN growth arrest and DNA-damage-inducible, gamma interacting protein 1 139 Poly-Gln. cell cycle|interspecies interaction between organisms nucleus protein binding ovary(2)|prostate(1)|skin(1) 4 CAGTTCTCCCGCTGCTGCTGCTG 0.635 7 527 --- --- --- --- ZSWIM4 65249 broad.mit.edu 37 19 13941586 13941587 + Frame_Shift_Ins INS - - C TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr19:13941586_13941587insC ENST00000254323.2 + 13 2881_2882 c.2692_2693insC c.(2692-2694)acgfs p.T898fs ZSWIM4_ENST00000440752.2_Frame_Shift_Ins_p.T732fs NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 898 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) CCCCTTAGGGGCACGCCGGGCC 0.693 13 331 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr19:46299165_46299167delCCT ENST00000221538.3 - 6 2256_2258 c.2114_2116delAGG c.(2113-2118)ggc>g p.EG705del RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del|RSPH6A_ENST00000597055.1_3'UTR NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcctcctcgccctcctcctcctc 0.586 16 609 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000601757.1_5'UTR NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 9 457 --- --- --- --- FLT3LG 0 broad.mit.edu 37 19 49978960 49978962 + In_Frame_Del DEL CTG CTG - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr19:49978960_49978962delCTG ENST00000594009.1 + 2 125_127 c.46_48delCTG c.(46-48)del p.L20del CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000204637.2_5'UTR NM_001204503.1 NP_001191432.1 P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 20 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CTATCTCCTCCTGCTGCTGCTGC 0.621 10 287 --- --- --- --- SIGLEC16 400709 broad.mit.edu 37 19 50474857 50474861 + RNA DEL GACGC GACGC - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr19:50474857_50474861delGACGC ENST00000602139.1 + 0 998 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 CAGTCTCCAGGACGCTTCCCTTTGC 0.566 9 246 --- --- --- --- ZNF552 79818 broad.mit.edu 37 19 58319468 58319468 + Frame_Shift_Del DEL T T - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr19:58319468delT ENST00000391701.1 - 3 1333 c.1164delA c.(1162-1164)aafs p.K388fs ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron NM_024762.3 NP_079038.2 Q9H707 ZN552_HUMAN zinc finger protein 552 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) TTTGCCTAAATTTTTTTTCAC 0.413 7 739 --- --- --- --- SLC23A2 9962 broad.mit.edu 37 20 4850569 4850569 + Frame_Shift_Del DEL G G - rs138961929 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr20:4850569delG ENST00000379333.1 - 12 1625 c.1233delC c.(1231-1233)ccfs p.P411fs SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs|SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs|SLC23A2_ENST00000468355.1_5'UTR NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 411 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity p.I412fs*4(1) endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TTGCGTGGATGGGGGGGGGTG 0.527 11 294 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21146805 21146805 + RNA DEL G G - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr20:21146805delG ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA TTTTTTTTTTGTCCATGAGGC 0.383 10 88 --- --- --- --- GINS1 9837 broad.mit.edu 37 20 25422397 25422397 + Frame_Shift_Del DEL A A - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr20:25422397delA ENST00000262460.4 + 6 601 c.507delA c.(505-507)ttfs p.L169fs GINS1_ENST00000429262.2_3'UTR NM_021067.3 NP_066545.3 Q14691 PSF1_HUMAN GINS complex subunit 1 (Psf1 homolog) 169 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm p.N172fs*14(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 7 CAGTCCTATTAAAAAAAAATA 0.299 15 564 --- --- --- --- KCNB1 3745 broad.mit.edu 37 20 47989771 47989772 + Frame_Shift_Ins INS - - G TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr20:47989771_47989772insG ENST00000371741.4 - 2 2491_2492 c.2325_2326insC c.(2323-2328)ccaaagfs p.PK775fs NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 775 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGGAGGCTTTTGGGGGGGCTGG 0.545 8 1818 --- --- --- --- DIDO1 11083 broad.mit.edu 37 20 61537401 61537402 + Frame_Shift_Ins INS - - T rs140153728 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr20:61537401_61537402insT ENST00000266070.4 - 6 1750_1751 c.1425_1426insA c.(1423-1428)aaagacfs p.D476fs DIDO1_ENST00000395335.2_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000266071.5_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370371.4_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000354665.4_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370366.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395340.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370368.1_Frame_Shift_Ins_p.D476fs NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 476 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) ACTGTGGTCTCTTTTTTTTCTG 0.490 9 618 --- --- --- --- LINC00478 0 broad.mit.edu 37 21 17443416 17443417 + RNA DEL TG TG - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr21:17443416_17443417delTG ENST00000458468.1 + 0 27 NR_027790.1 TTTTTCTTTTTGTGTGTGTGTG 0.431 10 627 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17119421 17119422 + RNA INS - - ATTT TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr22:17119421_17119422insATTT ENST00000426585.1 + 0 280 TTTATCTTTGCatttatttatt 0.351 7 16 --- --- --- --- IGLJ2 0 broad.mit.edu 37 22 23241753 23241754 + RNA INS - - A rs66963410 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr22:23241753_23241754insA ENST00000390322.2 + 0 93_94 GGGCTGGGGCTGGGGCATCCCA 0.619 37 144 --- --- --- --- MN1 4330 broad.mit.edu 37 22 28194910 28194912 + In_Frame_Del DEL TGT TGT - rs45520238 TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr22:28194910_28194912delTGT ENST00000302326.4 - 1 2574_2576 c.1620_1622delACA c.(1618-1623)cag>ca p.QQ548del NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 548 Poly-Gln. binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 ttgctgttgctgttgctgctgct 0.655 T ETV6 """AML, meningioma""" 7 17 --- --- --- --- PICK1 9463 broad.mit.edu 37 22 38471034 38471036 + In_Frame_Del DEL GGA GGA - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr22:38471034_38471036delGGA ENST00000404072.3 + 13 1490_1492 c.1143_1145delGGA c.(1141-1146)ggg>gg p.GE381del PICK1_ENST00000356976.3_In_Frame_Del_p.GE381del NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 381 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) TCACAGATGGggaggaggaggag 0.635 10 169 --- --- --- --- DDX17 10521 broad.mit.edu 37 22 38881965 38881967 + In_Frame_Del DEL GGA GGA - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr22:38881965_38881967delGGA ENST00000396821.3 - 13 2268_2270 c.2169_2171delTCC c.(2167-2172)ccc>cc p.PP727del DDX17_ENST00000444597.1_In_Frame_Del_p.PP177del|DDX17_ENST00000381633.3_In_Frame_Del_p.PP648del NM_001098504.1|NM_006386.4 NP_001091974.1|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 646 RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) aggaggagggggaggaggaggag 0.478 7 273 --- --- --- --- CYP2D7P1 0 broad.mit.edu 37 22 42538780 42538780 + RNA DEL A A - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr22:42538780delA ENST00000358097.4 - 0 539 CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000433992.1_RNA endometrium(1) 1 TCGGTCACCCACTGCTCCAGC 0.682 10 143 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42605990 42605992 + In_Frame_Del DEL CTG CTG - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chr22:42605990_42605992delCTG ENST00000359486.3 - 1 5456_5458 c.5320_5322delCAG c.(5320-5322)del p.Q1774del TCF20_ENST00000335626.4_In_Frame_Del_p.Q1774del|TCF20_ENST00000404876.1_In_Frame_Del_p.Q75del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1774 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 TCTGCTCCTTCTGCTGCTGCTGC 0.601 8 528 --- --- --- --- GUCY2F 2986 broad.mit.edu 37 X 108619355 108619355 + Frame_Shift_Del DEL T T - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chrX:108619355delT ENST00000218006.2 - 18 3483 c.3192delA c.(3190-3192)aafs p.K1064fs NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 1064 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 TCATGAAGCCTTTTTTCCCAA 0.418 8 616 --- --- --- --- SPANXN2 494119 broad.mit.edu 37 X 142803692 142803692 + Frame_Shift_Del DEL T T - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chrX:142803692delT ENST00000370498.1 - 1 824 c.71delA c.(70-72)atfs p.N24fs NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 24 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TACCTCATCATTTTTTTTGTT 0.443 8 599 --- --- --- --- RBMY2EP 0 broad.mit.edu 37 Y 23563322 23563323 + RNA DEL AC AC - TCGA-IB-AAUT-01A-11D-A377-08 TCGA-IB-AAUT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4f69f09-6081-4cf0-9505-2b8a18162658 46c83261-269c-4c59-8c9f-fb7b2d32312d g.chrY:23563322_23563323delAC ENST00000444169.1 - 0 86 NR_001574.2 ATATGAAAATacacacacacac 0.302 7 84 --- --- --- ---