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 PADI1 29943 broad.mit.edu 37 1 17548935 17548935 + Silent SNP C C A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr1:17548935C>A ENST00000375471.4 + 2 335 c.243C>A c.(241-243)ggC>ggA p.G81G NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 81 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) TATCTGTGGGCACAGCCAGTA 0.517 7 116 --- --- --- --- DAB1 1600 broad.mit.edu 37 1 57535038 57535038 + Missense_Mutation SNP A A G TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr1:57535038A>G ENST00000371236.2 - 8 921 c.658T>C c.(658-660)Tat>Cat p.Y220H DAB1_ENST00000420954.2_Intron|DAB1_ENST00000371231.1_Missense_Mutation_p.Y220H|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.Y220H|DAB1_ENST00000439789.2_Intron O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 220 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 TATACCTGATAAATGTTTTCT 0.423 4 143 --- --- --- --- RSAD2 91543 broad.mit.edu 37 2 7030377 7030377 + Missense_Mutation SNP T T C TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr2:7030377T>C ENST00000382040.3 + 4 945 c.809T>C c.(808-810)gTt>gCt p.V270A RSAD2_ENST00000541728.1_Missense_Mutation_p.V163A NM_080657.4 NP_542388.2 Q8WXG1 RSAD2_HUMAN radical S-adenosyl methionine domain containing 2 270 defense response to virus endoplasmic reticulum membrane|Golgi apparatus catalytic activity|iron-sulfur cluster binding|metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1) 20 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) OV - Ovarian serous cystadenocarcinoma(76;0.191) GAAAGATTTGTTATTGGTGAT 0.413 4 84 --- --- --- --- DRC1 92749 broad.mit.edu 37 2 26672885 26672885 + Missense_Mutation SNP C C G TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr2:26672885C>G ENST00000288710.2 + 12 1605 c.1531C>G c.(1531-1533)Ctg>Gtg p.L511V NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) AGAGAGCAAGCTGCTGAGCCT 0.607 4 34 --- --- --- --- SESTD1 91404 broad.mit.edu 37 2 180008456 180008456 + Missense_Mutation SNP C C A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr2:180008456C>A ENST00000428443.3 - 9 1028 c.712G>T c.(712-714)Gat>Tat p.D238Y NM_178123.4 NP_835224.3 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 238 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) AGTTCATCATCCATAGGAGAC 0.428 5 91 --- --- --- --- SETD2 29072 broad.mit.edu 37 3 47163454 47163454 + Missense_Mutation SNP T T A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr3:47163454T>A ENST00000409792.3 - 3 2714 c.2672A>T c.(2671-2673)aAg>aTg p.K891M NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 891 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) ACTGTCCACCTTTATTCCTGG 0.388 """N, F, S, Mis""" clear cell renal carcinoma 13 82 --- --- --- --- PCDHGC3 5098 broad.mit.edu 37 5 140857775 140857775 + Missense_Mutation SNP C C G TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr5:140857775C>G ENST00000308177.3 + 1 2196 c.2092C>G c.(2092-2094)Cta>Gta p.L698V PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTTCTTTCTCTAATCCTGGT 0.498 OREG0016865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 299 --- --- --- --- DAXX 1616 broad.mit.edu 37 6 33287278 33287278 + Missense_Mutation SNP T T C TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr6:33287278T>C ENST00000374542.5 - 6 2023 c.1819A>G c.(1819-1821)Atg>Gtg p.M607V DAXX_ENST00000414083.2_Missense_Mutation_p.M532V|DAXX_ENST00000266000.6_Missense_Mutation_p.M607V NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 607 Interaction with MAP3K5. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 GAAGAGACCATGCCTGCTCCA 0.522 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 6 71 --- --- --- --- GINM1 116254 broad.mit.edu 37 6 149903651 149903651 + Missense_Mutation SNP C C G TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr6:149903651C>G ENST00000367419.5 + 7 914 c.793C>G c.(793-795)Cag>Gag p.Q265E NM_138785.3 NP_620140.1 glycoprotein integral membrane 1 p.Q265*(1) AGTATTCTTTCAGTTTTTGAA 0.363 13 148 --- --- --- --- CHCHD2 51142 broad.mit.edu 37 7 56172077 56172077 + Missense_Mutation SNP C C A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr7:56172077C>A ENST00000395422.3 - 2 304 c.142G>T c.(142-144)Gct>Tct p.A48S NM_016139.2 NP_057223.1 Q9Y6H1 CHCH2_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 2 48 mitochondrion endometrium(1)|large_intestine(1)|lung(3) 5 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CGGGGCGCAGCAGCAGAAGAG 0.657 3 21 --- --- --- --- NRCAM 4897 broad.mit.edu 37 7 107816881 107816881 + Missense_Mutation SNP C C A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr7:107816881C>A ENST00000379028.3 - 27 3615 c.3145G>T c.(3145-3147)Gat>Tat p.D1049Y NRCAM_ENST00000413765.2_Missense_Mutation_p.D1030Y|NRCAM_ENST00000379024.4_Missense_Mutation_p.D1030Y|NRCAM_ENST00000351718.4_Missense_Mutation_p.D1033Y|NRCAM_ENST00000425651.2_Missense_Mutation_p.D1049Y|NRCAM_ENST00000379022.4_Missense_Mutation_p.D1049Y Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 1049 angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 TTACCTTCATCCACAGTTGTT 0.308 6 111 --- --- --- --- ZHX1 11244 broad.mit.edu 37 8 124267245 124267245 + Silent SNP A A G TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr8:124267245A>G ENST00000395571.3 - 3 1559 c.942T>C c.(940-942)atT>atC p.I314I ZHX1_ENST00000297857.2_Silent_p.I314I|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Silent_p.I314I NM_001017926.2|NM_007222.4 NP_001017926.1|NP_009153.3 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 314 Required for dimerization.|Required for interaction with NFYA. negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) AAAGAACTGTAATTTCTGACA 0.403 8 274 --- --- --- --- CDH23 64072 broad.mit.edu 37 10 73565668 73565668 + Missense_Mutation SNP G G T TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr10:73565668G>T ENST00000224721.6 + 55 7998 c.7993G>T c.(7993-7995)Gac>Tac p.D2665Y CDH23_ENST00000398788.3_Missense_Mutation_p.D420Y|CDH23_ENST00000475158.1_3'UTR NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2660 Cadherin 25. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GGGCAACCGGGACTGGGAGTT 0.652 3 31 --- --- --- --- SLIT1 6585 broad.mit.edu 37 10 98806792 98806792 + Silent SNP C C T TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr10:98806792C>T ENST00000266058.4 - 17 1910 c.1665G>A c.(1663-1665)ctG>ctA p.L555L SLIT1_ENST00000371070.4_Silent_p.L555L|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 555 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CAGTGGCCTCCAGGATGGAAA 0.423 5 53 --- --- --- --- PRMT3 10196 broad.mit.edu 37 11 20409624 20409624 + Nonsense_Mutation SNP G G T TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr11:20409624G>T ENST00000331079.6 + 2 305 c.88G>T c.(88-90)Gag>Tag p.E30* PRMT3_ENST00000437750.2_Intron NM_001145167.1|NM_005788.3 NP_001138639.1|NP_005779 O60678 ANM3_HUMAN protein arginine methyltransferase 3 30 zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1) 17 CAGCGGGGACGAGGCCGCCTG 0.647 7 53 --- --- --- --- CARD16 114769 broad.mit.edu 37 11 104915359 104915359 + Missense_Mutation SNP G G T TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr11:104915359G>T ENST00000375706.2 - 2 51 c.34C>A c.(34-36)Ctg>Atg p.L12M CASP1_ENST00000593315.1_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.L12M|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.L12M|CASP1_ENST00000415981.2_Intron NM_001017534.1 NP_001017534.1 caspase recruitment domain family, member 16 endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 11 TGGATAAACAGCTTTCTCTTC 0.418 21 220 --- --- --- --- DSCAML1 57453 broad.mit.edu 37 11 117332280 117332280 + Silent SNP G G A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr11:117332280G>A ENST00000321322.6 - 18 3479 c.3478C>T c.(3478-3480)Ctg>Ttg p.L1160L DSCAML1_ENST00000527706.1_Silent_p.L890L NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1100 Fibronectin type-III 3. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GTGATGGACAGGGCCCGGACG 0.607 3 89 --- --- --- --- KLHL42 57542 broad.mit.edu 37 12 27934042 27934042 + Missense_Mutation SNP G G A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr12:27934042G>A ENST00000381271.2 + 1 1090 c.779G>A c.(778-780)gGg>gAg p.G260E NM_020782.1 NP_065833.1 kelch-like family member 42 ATAGTGGGCGGGTACAGGATC 0.582 3 41 --- --- --- --- TARBP2 6895 broad.mit.edu 37 12 53897517 53897517 + Missense_Mutation SNP C C G TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr12:53897517C>G ENST00000266987.2 + 4 830 c.347C>G c.(346-348)tCt>tGt p.S116C TARBP2_ENST00000552857.1_Missense_Mutation_p.S25C|TARBP2_ENST00000456234.2_Missense_Mutation_p.S95C|TARBP2_ENST00000394357.2_Missense_Mutation_p.S95C NM_134323.1 NP_599150.1 Q15633 TRBP2_HUMAN TAR (HIV-1) RNA binding protein 2 116 miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex double-stranded RNA binding|protein homodimerization activity|siRNA binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3) 10 CCCCTAGACTCTTCACTGCCT 0.557 5 127 --- --- --- --- GPR84 53831 broad.mit.edu 37 12 54757587 54757587 + Silent SNP G G A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr12:54757587G>A ENST00000551809.1 - 1 684 c.49C>T c.(49-51)Ctg>Ttg p.L17L RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Silent_p.L17L|RP11-753H16.5_ENST00000552785.1_RNA Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 17 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 CGATAGCCCAGCACAGACTCA 0.557 3 39 --- --- --- --- ZBTB4 57659 broad.mit.edu 37 17 7366047 7366047 + Missense_Mutation SNP A A C TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr17:7366047A>C ENST00000311403.4 - 4 2593 c.2254T>G c.(2254-2256)Tcc>Gcc p.S752A ZBTB4_ENST00000380599.4_Missense_Mutation_p.S752A NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 752 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) GAGCTGTGGGAGCCCCCACCG 0.701 4 83 --- --- --- --- LHX1 3975 broad.mit.edu 37 17 35295534 35295534 + Missense_Mutation SNP C C A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr17:35295534C>A ENST00000254457.5 + 1 1451 c.40C>A c.(40-42)Cgc>Agc p.R14S NM_005568.3 NP_005559.2 P48742 LHX1_HUMAN LIM homeobox 1 14 LIM zinc-binding 1. cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development nucleus|protein complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(25;0.00607) CATCCTGGACCGCTTTCTCTT 0.567 3 88 --- --- --- --- KRTAP3-1 83896 broad.mit.edu 37 17 39165307 39165307 + Missense_Mutation SNP C C T rs141325742 byFrequency TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr17:39165307C>T ENST00000391588.1 - 1 59 c.20G>A c.(19-21)cGc>cAc p.R7H KRTAP3-1_ENST00000581033.1_Intron NM_031958.1 NP_114164.1 Q9BYR8 KRA31_HUMAN keratin associated protein 3-1 7 4 X 5 AA repeats of C-C-X(3). keratin filament structural molecule activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 8 Breast(137;0.00043) GCTGCAGGAGCGGAGAGCACA 0.552 10 108 --- --- --- --- ALPK2 115701 broad.mit.edu 37 18 56203463 56203463 + Missense_Mutation SNP G G C TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr18:56203463G>C ENST00000361673.3 - 5 4169 c.3956C>G c.(3955-3957)cCc>cGc p.P1319R RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1319 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 ACTGATGGTGGGCTCTTCGCC 0.517 3 90 --- --- --- --- MYBPC2 4606 broad.mit.edu 37 19 50957350 50957350 + Missense_Mutation SNP C C T TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr19:50957350C>T ENST00000357701.5 + 17 1874 c.1823C>T c.(1822-1824)gCg>gTg p.A608V NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 608 Ig-like C2-type 5. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) ATTGAGAGTGCGCAGCGGGAA 0.602 4 20 --- --- --- --- IGLV3-27 28791 broad.mit.edu 37 22 23011003 23011003 + RNA SNP G G T TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr22:23011003G>T ENST00000390304.2 + 0 104 CCTCCTATGAGCTGACACAGC 0.562 6 156 --- --- --- --- FABP2 2169 broad.mit.edu 37 4 120240226 120240226 + Frame_Shift_Del DEL T T - TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr4:120240226delT ENST00000274024.3 - 4 656 c.369delA c.(367-369)gtafs p.V123fs NM_000134.3 NP_000125.2 P12104 FABPI_HUMAN fatty acid binding protein 2, intestinal 123 fatty acid binding breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1) 8 TTTTGGCTTCTACTCCTTCAT 0.294 14 161 --- --- --- ---