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-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 13 608 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 5 197 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10128939 10128939 + Missense_Mutation SNP G G A TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr3:10128939G>A ENST00000287647.3 + 34 3550 c.3457G>A c.(3457-3459)Gaa>Aaa p.E1153K FANCD2_ENST00000383806.1_Missense_Mutation_p.E1153K|FANCD2OS_ENST00000524279.1_Intron|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000419585.1_Missense_Mutation_p.E1153K|FANCD2_ENST00000383807.1_Missense_Mutation_p.E1153K NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 1153 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TCAGAACAAAGAAAAAATTGG 0.348000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 30 423 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 9 161 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 7 30 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821615 72821615 + Silent SNP G G A TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr16:72821615G>A ENST00000268489.5 - 10 11232 c.10560C>T c.(10558-10560)ggC>ggT p.G3520G ZFHX3_ENST00000397992.5_Silent_p.G2606G|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3520 Poly-Gly. 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 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) cgccgccgccgccaccgccgc 0.706000 11 229 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102305092 102305092 + RNA SNP A A G TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr15:102305092A>G ENST00000561463.1 + 0 13138 CATGAACACCATCAGCACAGC 0.632000 4 110 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 7 240 0 0 1 0 0 IGDCC3 9543 broad.mit.edu 37 15 65667687 65667687 + Missense_Mutation SNP C C T TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr15:65667687C>T ENST00000327987.4 - 2 408 c.157G>A c.(157-159)Gcc>Acc p.A53T NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 53 Ig-like C2-type 1. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CCGGGGACGGCAACATCATCA 0.567000 6 151 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195391062 195391062 + RNA SNP C C G rs2688562 by1000genomes TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr3:195391062C>G ENST00000445430.1 + 0 588 GCAGGCCCATCGGTGCTGCTG 0.537000 12 473 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 13 301 1.64113e-05 1.66718e-05 1 1 0 PDZK1P1 0 broad.mit.edu 37 1 145931852 145931852 + RNA SNP A A C TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:145931852A>C ENST00000401011.2 - 0 2545 NR_003377.2 ACCAGTCTGTACATGTTGTCC 0.438000 6 271 0 0 1 0 0 RP11-483E23.2 0 broad.mit.edu 37 15 28599954 28599954 + RNA SNP A A G rs144345425 by1000genomes TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr15:28599954A>G ENST00000568624.1 - 0 452 GGCTGTAGTAAAGTGCCATCT 0.478000 10 682 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 9 248 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414373 20414373 + Silent SNP G G A TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr9:20414373G>A ENST00000380338.4 - 5 757 c.471C>T c.(469-471)agC>agT p.S157S MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 157 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S157S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.527000 T MLL ALL 9 366 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400799 195400799 + RNA SNP G G A rs7635172 by1000genomes TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr3:195400799G>A ENST00000445430.1 + 0 1395 CAAACTCGCTGTTGGACCTGG 0.597000 7 244 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7629790 7629790 + Silent SNP C C T rs145861898 byFrequency TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr16:7629790C>T ENST00000340209.4 + 3 594 c.297C>T c.(295-297)gaC>gaT p.D99D RBFOX1_ENST00000355637.4_Silent_p.D114D|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000547338.1_Silent_p.D94D|RBFOX1_ENST00000436368.2_Silent_p.D114D|RBFOX1_ENST00000547372.1_Silent_p.D137D|RBFOX1_ENST00000552089.1_Silent_p.D129D|RBFOX1_ENST00000311745.5_Silent_p.D114D|RBFOX1_ENST00000553186.1_Silent_p.D94D|RBFOX1_ENST00000422070.4_Silent_p.D137D|RBFOX1_ENST00000550418.1_Silent_p.D94D Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 94 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 AGACAGATGACGCAGCACCGA 0.517000 9 443 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 7 59 0 0 1 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959320 45959320 + Silent SNP A A G TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr21:45959320A>G ENST00000400375.1 - 1 758 c.714T>C c.(712-714)ccT>ccC p.P238P TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 238 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 GCCGGCATACAGGGCGGCAGA 0.692000 12 588 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821618 72821618 + Silent SNP A A G rs112443847 TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr16:72821618A>G ENST00000268489.5 - 10 11229 c.10557T>C c.(10555-10557)ggT>ggC p.G3519G ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3519 Poly-Gly. 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.G3519G(3) 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) cgccgccgccaccgccgccgc 0.716000 10 225 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 13 308 0 0 1 0 0 ZNF181 339318 broad.mit.edu 37 19 35232753 35232753 + Silent SNP T T C TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr19:35232753T>C ENST00000392232.3 + 6 1767 c.1599T>C c.(1597-1599)taT>taC p.Y533Y ZNF181_ENST00000492450.1_Silent_p.Y489Y|ZNF181_ENST00000459757.1_Silent_p.Y488Y Q2M3W8 ZN181_HUMAN zinc finger protein 181 489 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) AGAAACCTTATGAATGTATTA 0.388000 7 312 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(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) ACTGGACGCAGGcagcagcag 0.657000 6 105 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 13 313 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 13 352 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400795 195400795 + RNA SNP C C T rs7615357 by1000genomes TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr3:195400795C>T ENST00000445430.1 + 0 1391 GGGGCAAACTCGCTGTTGGAC 0.592000 7 245 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 4 77 0 0 1 0 0 PHF13 148479 broad.mit.edu 37 1 6680069 6680071 + In_Frame_Del DEL GAA GAA - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 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 7 502 --- --- --- --- VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 9 1161 --- --- --- --- EXOSC10 5394 broad.mit.edu 37 1 11128120 11128120 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:11128120delT ENST00000376936.4 - 24 2621 c.2572delA c.(2572-2574)ttfs p.I858fs EXOSC10_ENST00000544779.1_3'UTR|EXOSC10_ENST00000304457.7_Frame_Shift_Del_p.I833fs 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 8 653 --- --- --- --- TCEB3 6924 broad.mit.edu 37 1 24078404 24078404 + Frame_Shift_Del DEL A A - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:24078404delA ENST00000418390.2 + 4 1658 c.1387delA c.(1387-1389)aafs p.K464fs NM_003198.2 NP_003189.2 Q14241 ELOA1_HUMAN transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) 464 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding p.N439fs*19(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) TAAAGGACTTAAAAAAAATGA 0.413 OREG0013232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 863 --- --- --- --- EXTL1 2134 broad.mit.edu 37 1 26349533 26349535 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:26349533_26349535delCCT ENST00000374280.3 + 1 1263_1265 c.396_398delCCT c.(394-399)tgc>tg p.CL132del NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 132 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CTGGGGCCTGCCTCCTCCTCCTC 0.606 9 336 --- --- --- --- SNIP1 79753 broad.mit.edu 37 1 38003368 38003370 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:38003368_38003370delTCC ENST00000296215.6 - 4 1242_1244 c.1170_1172delGGA c.(1168-1173)gaa>ga p.EE390del NM_024700.3 NP_078976.2 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 1 390 Poly-Glu. production of miRNAs involved in gene silencing by miRNA nucleus protein binding breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 25 Myeloproliferative disorder(586;0.0393) AGACACTTCTTCCTCCTCCTCCT 0.448 7 719 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325313 47325315 + RNA DEL GTT GTT - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:47325313_47325315delGTT ENST00000505841.1 - 0 1204 NR_002788.2 AAAAAAAAAAGTTGTTTTAAGAC 0.409 8 437 --- --- --- --- ZCCHC11 23318 broad.mit.edu 37 1 52991403 52991403 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:52991403delT ENST00000371544.3 - 2 812 c.550delA c.(550-552)ttfs p.I184fs ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.I184fs|ZCCHC11_ENST00000355809.4_Frame_Shift_Del_p.I184fs NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 184 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 GAGCTTGGAATTTTTTTTCCA 0.408 7 1238 --- --- --- --- ROR1 4919 broad.mit.edu 37 1 64608186 64608187 + Frame_Shift_Del DEL CA CA - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:64608186_64608187delCA ENST00000371079.1 + 7 1402_1403 c.1027_1028delCA c.(1027-1029)cfs p.H343fs ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000371080.1_Frame_Shift_Del_p.H343fs NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 343 Kringle. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 CCAGTATCCCCACACACACACT 0.554 7 594 --- --- --- --- JAK1 3716 broad.mit.edu 37 1 65306996 65306997 + Frame_Shift_Ins INS - - T TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:65306996_65306997insT ENST00000342505.4 - 19 2828_2829 c.2580_2581insA c.(2578-2583)aacagcfs p.NS860fs NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 860 interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) TCAGTTGCTGGTTTTTTTTCTG 0.470 Mis ALL 10 814 --- --- --- --- ST6GALNAC5 81849 broad.mit.edu 37 1 77334277 77334279 + In_Frame_Del DEL GCA GCA - rs113832855 TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 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 8 187 --- --- --- --- HIAT1 64645 broad.mit.edu 37 1 100534122 100534122 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:100534122delT ENST00000370152.3 + 7 935 c.799delT c.(799-801)ttfs p.F268fs RP4-714D9.2_ENST00000432294.1_RNA NM_033055.2 NP_149044.2 Q96MC6 HIAT1_HUMAN hippocampus abundant transcript 1 268 transmembrane transport integral to membrane|plasma membrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) ATATTCCAGCTTTTTTTTATA 0.388 7 759 --- --- --- --- SYCP1 6847 broad.mit.edu 37 1 115537600 115537601 + Frame_Shift_Ins INS - - A TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:115537600_115537601insA ENST00000369522.3 + 32 3131_3132 c.2891_2892insA c.(2890-2892)aaafs p.K964fs SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K964fs NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 964 Arg/Lys-rich (basic). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAAATGGATAGAAAAAAAAAAC 0.356 20 397 --- --- --- --- NGF 4803 broad.mit.edu 37 1 115828721 115828722 + Frame_Shift_Del DEL CA CA - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:115828721_115828722delCA ENST00000369512.2 - 3 863_864 c.695_696delTG c.(694-696)gfs p.V232fs RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 232 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) TCCTGCTGAGCACACACACACA 0.579 9 565 --- --- --- --- RNF115 27246 broad.mit.edu 37 1 145682086 145682086 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:145682086delT ENST00000369291.4 + 5 696 c.492delT c.(490-492)ccfs p.P164fs NM_014455.2 NP_055270.1 Q9Y4L5 RN115_HUMAN ring finger protein 115 164 protein autoubiquitination cytosol protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 CTCCACACCCTTTTTCCTGGT 0.363 7 792 --- --- --- --- LINGO4 339398 broad.mit.edu 37 1 151773603 151773603 + Frame_Shift_Del DEL A A - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:151773603delA ENST00000368820.3 - 2 2515 c.1578delT c.(1576-1578)ttfs p.F526fs NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 526 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGCTATCCAGAAAAAAAGGCC 0.582 8 1201 --- --- --- --- UBE2Q1 55585 broad.mit.edu 37 1 154523416 154523416 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:154523416delT ENST00000292211.4 - 12 1314 c.1235delA c.(1234-1236)acfs p.N412fs NM_017582.6 NP_060052.3 Q7Z7E8 UB2Q1_HUMAN ubiquitin-conjugating enzyme E2Q family member 1 412 ATP binding|protein binding|ubiquitin-protein ligase activity p.N412fs*>12(1)|p.G413fs*>11(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) AGCCTCACCGTTTTTTTCGTG 0.522 7 1424 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154680586 154680588 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:154680586_154680588delGCT ENST00000271915.3 - 8 2375_2377 c.2060_2062delAGC c.(2059-2064)ctc>c p.QL687del KCNN3_ENST00000361147.4_In_Frame_Del_p.QL382del|KCNN3_ENST00000515643.1_5'UTR|KCNN3_ENST00000358505.2_In_Frame_Del_p.QL374del NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 692 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GCAGACAGGAGCTGCTGCTGCTG 0.640 17 862 --- --- --- --- TMCO1 54499 broad.mit.edu 37 1 165712550 165712551 + Splice_Site INS - - A TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:165712550_165712551insA ENST00000367881.5 - 6 752 c.e6-2 TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site Q9UM00 TMCO1_HUMAN transmembrane and coiled-coil domains 1 endoplasmic reticulum membrane|Golgi membrane|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) CCATCAAATCTAAAAGAAAAAA 0.381 11 328 --- --- --- --- DHX9 1660 broad.mit.edu 37 1 182845333 182845333 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:182845333delT ENST00000367549.3 + 17 2074 c.1964delT c.(1963-1965)gtfs p.V655fs NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 655 Helicase C-terminal. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 GCTGTGTTGGTTTTTTTGCCT 0.378 8 911 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186277262 186277264 + In_Frame_Del DEL CCA CCA - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:186277262_186277264delCCA ENST00000445192.2 + 7 2456_2458 c.2411_2413delCCA c.(2410-2415)ccc>c p.PT804del PRG4_ENST00000367483.4_In_Frame_Del_p.PT763del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_In_Frame_Del_p.PT761del|PRG4_ENST00000367485.4_In_Frame_Del_p.PT711del NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 804 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 GAGCTTGCACCCACCACCACCAA 0.596 7 1519 --- --- --- --- GPR25 2848 broad.mit.edu 37 1 200842776 200842778 + In_Frame_Del DEL TGC TGC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 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 7 181 --- --- --- --- IPO9 55705 broad.mit.edu 37 1 201843998 201844000 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:201843998_201844000delGAG ENST00000361565.4 + 22 2941_2943 c.2872_2874delGAG c.(2872-2874)del p.E962del NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 962 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 ggaggaggaagaggaggaggagg 0.443 12 563 --- --- --- --- INTS7 25896 broad.mit.edu 37 1 212115191 212115193 + In_Frame_Del DEL TGC TGC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:212115191_212115193delTGC ENST00000366994.3 - 20 2966_2968 c.2862_2864delGCA c.(2860-2865)caa>ca p.QQ954del INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 954 Gln-rich. snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) GGCATTGCGTTGCTGCTGCTGCT 0.443 7 634 --- --- --- --- PTPN14 5784 broad.mit.edu 37 1 214557049 214557051 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:214557049_214557051delCCT ENST00000366956.5 - 13 2341_2343 c.2147_2149delAGG c.(2146-2151)gct>g p.EA716del PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 716 Poly-Glu. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding p.E716delE(1) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GATTCTGGAGCCTCCTCCTCCTC 0.626 9 410 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 13 449 --- --- --- --- C2orf71 388939 broad.mit.edu 37 2 29295647 29295649 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr2:29295647_29295649delTCC ENST00000331664.5 - 1 1478_1480 c.1479_1481delGGA c.(1477-1482)gaa>ga p.EE493del NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 493 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CATTTTGTCTTCCTCCTCCTCCT 0.542 7 903 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39095411 39095413 + In_Frame_Del DEL CCA CCA - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr2:39095411_39095413delCCA ENST00000295373.6 - 2 261_263 c.135_137delTGG c.(133-138)gga>gg p.GG47del NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 47 Gly-rich. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) Gccgccacctccaccaccaccac 0.532 10 586 --- --- --- --- AFTPH 54812 broad.mit.edu 37 2 64778672 64778674 + In_Frame_Del DEL GAT GAT - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr2:64778672_64778674delGAT ENST00000422803.1 + 2 378_380 c.64_66delGAT c.(64-66)del p.D26del AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del Q6ULP2 AFTIN_HUMAN aftiphilin 26 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 TGGAGCAGAGGATGATGATGATG 0.409 10 893 --- --- --- --- ANKRD20A8P 0 broad.mit.edu 37 2 95519511 95519512 + RNA INS - - TACT TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr2:95519511_95519512insTACT ENST00000432432.2 - 0 316 NR_040113.1 TTCAAAACAAATAATTTTTTTG 0.307 9 111 --- --- --- --- TMEM127 55654 broad.mit.edu 37 2 96919781 96919783 + In_Frame_Del DEL TGC TGC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr2:96919781_96919783delTGC ENST00000258439.2 - 4 736_738 c.480_482delGCA c.(478-483)cat>ca p.QH160del TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 160 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 GTACTTCTTATGCTGCTGCTGCT 0.557 10 504 --- --- --- --- ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)del p.E155del ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 147 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTCCAGCAGTGAGGAGGAGGAGG 0.532 12 363 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168104998 168105000 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr2:168104998_168105000delCCT ENST00000409195.1 + 9 7185_7187 c.7096_7098delCCT c.(7096-7098)del p.P2370del XIRP2_ENST00000295237.9_In_Frame_Del_p.P2370del|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_In_Frame_Del_p.P2148del|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2195 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GTTTCTGCCGCCTCCTCCTCCTC 0.468 8 727 --- --- --- --- CIR1 9541 broad.mit.edu 37 2 175213712 175213713 + Frame_Shift_Ins INS - - T TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr2:175213712_175213713insT ENST00000342016.3 - 10 957_958 c.865_866insA c.(865-867)acafs p.T289fs CIR1_ENST00000362053.5_3'UTR NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 289 Lys/Ser-rich. mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 cttcctttgtatttttttttct 0.381 7 390 --- --- --- --- RBM45 129831 broad.mit.edu 37 2 178988920 178988920 + Frame_Shift_Del DEL A A - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr2:178988920delA ENST00000286070.5 + 8 1227 c.1135delA c.(1135-1137)aafs p.K381fs NM_152945.2 NP_694453.2 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 383 cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding p.A382fs*7(2)|p.?(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) TCCATCATGCAAAAAAAAAGC 0.353 18 563 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr2:218712887_218712889delGCT ENST00000171887.4 - 17 2428_2430 c.1976_1978delAGC c.(1975-1980)cct>c p.QP659del TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del|TNS1_ENST00000419504.1_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 11 175 --- --- --- --- FOXP1 27086 broad.mit.edu 37 3 71247357 71247359 + In_Frame_Del DEL TGC TGC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr3:71247357_71247359delTGC ENST00000318789.4 - 6 699_701 c.174_176delGCA c.(172-177)caa>ca p.QQ58del FOXP1_ENST00000475937.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000484350.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000318779.3_In_Frame_Del_p.QQ58del|FOXP1_ENST00000493089.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000468577.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000498215.1_In_Frame_Del_p.QQ58del NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 58 Gln-rich. cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development 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(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) CAGTACCTGTTGCTGCTGCTGCT 0.586 T PAX5 ALL 7 638 --- --- --- --- LINC00971 0 broad.mit.edu 37 3 84741480 84741480 + RNA DEL A A - rs140144338 TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr3:84741480delA ENST00000484892.1 - 0 2354 NR_033860.1 CCTGTCCCAGAAAAAAAAAAA 0.388 16 31 --- --- --- --- MYLK 4638 broad.mit.edu 37 3 123368043 123368044 + Splice_Site INS - - G rs138786404 TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr3:123368043_123368044insG ENST00000360772.3 - 26 4667 c.e26-2 MYLK_ENST00000346322.5_Splice_Site|MYLK_ENST00000475616.1_Splice_Site|MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000359169.1_Splice_Site Q15746 MYLK_HUMAN myosin light chain kinase aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCTTCGGCTCTGGGGGGGGCAC 0.624 10 499 --- --- --- --- UROC1 131669 broad.mit.edu 37 3 126220106 126220106 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr3:126220106delT ENST00000290868.2 - 10 973 c.920delA c.(919-921)agfs p.K307fs UROC1_ENST00000383579.3_Frame_Shift_Del_p.K367fs NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 307 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) GAGCACCTCCTTTTTTTTCCT 0.587 10 1319 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129546680 129546682 + In_Frame_Del DEL GCA GCA - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr3:129546680_129546682delGCA ENST00000393238.3 - 3 880_882 c.540_542delTGC c.(538-543)gca>gc p.AA180del TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 180 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 TGGTAGACATgcagcagcagcag 0.483 8 271 --- --- --- --- PCOLCE2 26577 broad.mit.edu 37 3 142548586 142548586 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr3:142548586delT ENST00000295992.3 - 6 1119 c.813delA c.(811-813)aafs p.K271fs PCOLCE2_ENST00000485766.1_Intron NM_013363.3 NP_037495.1 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 271 extracellular region collagen binding|heparin binding|peptidase activator activity NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 TTGTAGGCAGTTTTTTTGGCC 0.383 7 864 --- --- --- --- RP11-167H9.4 0 broad.mit.edu 37 3 149769296 149769296 + RNA DEL C C - rs59377959 TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr3:149769296delC ENST00000487840.1 + 0 46 TTCCTGGTGTCtttttttttt 0.463 10 484 --- --- --- --- FAM194A 131831 broad.mit.edu 37 3 150421570 150421572 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr3:150421570_150421572delTCC ENST00000295910.6 - 1 166_168 c.114_116delGGA c.(112-117)gaa>ga p.EE38del RP11-103G8.2_ENST00000471093.1_RNA|FAM194A_ENST00000491361.1_Intron NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 38 Glu-rich. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 ctccacctcttcctcctcctcct 0.631 7 130 --- --- --- --- SMC4 10051 broad.mit.edu 37 3 160143939 160143940 + Frame_Shift_Ins INS - - A TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr3:160143939_160143940insA ENST00000357388.3 + 17 3007_3008 c.2556_2557insA c.(2554-2559)gaaaaafs p.EK852fs RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000360111.2_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000469762.1_Frame_Shift_Ins_p.EK827fs|SMC4_ENST00000344722.5_Frame_Shift_Ins_p.EK852fs NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 852 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CAGCCCCTGACAAAAAAAAGCA 0.322 9 1045 --- --- --- --- FXR1 0 broad.mit.edu 37 3 180666228 180666228 + Frame_Shift_Del DEL A A - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr3:180666228delA ENST00000357559.4 + 5 748 c.364delA c.(364-366)aafs p.K123fs FXR1_ENST00000480918.1_Frame_Shift_Del_p.K110fs|FXR1_ENST00000445140.2_Frame_Shift_Del_p.K123fs|FXR1_ENST00000491062.1_Frame_Shift_Del_p.K74fs|FXR1_ENST00000305586.7_Frame_Shift_Del_p.K38fs|FXR1_ENST00000468861.1_Frame_Shift_Del_p.K38fs NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 123 apoptosis|cell differentiation|muscle organ development nucleolus|polysome p.N124fs*14(1) breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) TAAAACTGTCAAAAAAAATAC 0.333 7 367 --- --- --- --- FETUB 26998 broad.mit.edu 37 3 186362544 186362544 + Frame_Shift_Del DEL A A - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr3:186362544delA ENST00000265029.3 + 4 530 c.429delA c.(427-429)tcfs p.S143fs FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|FETUB_ENST00000488561.1_3'UTR|RP11-134F2.2_ENST00000455926.1_RNA NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 143 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) CAACAGTTTCAAAAAAAAAGA 0.418 12 699 --- --- --- --- TNK2 10188 broad.mit.edu 37 3 195595228 195595229 + Frame_Shift_Ins INS - - G TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr3:195595228_195595229insG ENST00000333602.6 - 12 2512_2513 c.1895_1896insC c.(1894-1896)cccfs p.P632fs TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs|TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 632 Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CATAGGCGGGCGGGGGGGGCAG 0.728 8 439 --- --- --- --- PDE6B 5158 broad.mit.edu 37 4 661763 661765 + In_Frame_Del DEL AGG AGG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr4:661763_661765delAGG ENST00000255622.6 + 21 2514_2516 c.2471_2473delAGG c.(2470-2475)aag>a p.KE824del PDE6B_ENST00000429163.2_In_Frame_Del_p.KE545del|PDE6B_ENST00000496514.1_In_Frame_Del_p.KE824del NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 824 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CTGGAGGAGAAGGAGGAGGAGGA 0.562 10 853 --- --- --- --- RGS12 6002 broad.mit.edu 37 4 3430398 3430399 + Frame_Shift_Ins INS - - A TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr4:3430398_3430399insA ENST00000336727.3 + 16 4429_4430 c.3525_3526insA c.(3523-3528)ggaaaafs p.GK1175fs RGS12_ENST00000382788.3_Frame_Shift_Ins_p.GK1175fs|RGS12_ENST00000344733.5_Frame_Shift_Ins_p.GK1175fs|RGS12_ENST00000338806.4_Frame_Shift_Ins_p.GK527fs|RGS12_ENST00000306648.7_Intron|RGS12_ENST00000538395.1_Intron NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1175 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CAAAGATTGGGAAAAAAAAATA 0.332 8 411 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4204225 4204229 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr4:4204225_4204229delTTGAG ENST00000296358.4 - 4 700_704 c.676_680delCTCAA c.(676-681)tfs p.LN226fs NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 226 biomineral tissue development extracellular space|integral to membrane p.L226fs*1(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGTGCTCATTGAGTTGGTGCTTT 0.502 10 580 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr4:46060358delA ENST00000295452.4 - 7 959 c.792delT c.(790-792)ttfs p.F264fs NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 264 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.F264fs*3(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TGCTCAGGTCAAAAAAAATTG 0.294 7 341 --- --- --- --- PROL1 58503 broad.mit.edu 37 4 71275429 71275429 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr4:71275429delT ENST00000399575.2 + 3 558 c.384delT c.(382-384)ccfs p.P128fs PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 128 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) CTCCTATTCCTTTTTTTCTTG 0.428 7 829 --- --- --- --- CDKL2 8999 broad.mit.edu 37 4 76539579 76539580 + Frame_Shift_Ins INS - - T TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr4:76539579_76539580insT ENST00000429927.2 - 3 925_926 c.222_223insA c.(220-225)aagatgfs p.M75fs CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 75 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AGGTACCATCGTTTTTTTTTCT 0.322 14 375 --- --- --- --- BMP2K 55589 broad.mit.edu 37 4 79792161 79792169 + In_Frame_Del DEL CAGCACCAC CAGCACCAC - rs2114202 byFrequency TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr4:79792161_79792169delCAGCACCAC ENST00000335016.5 + 11 1622_1630 c.1456_1464delCAGCACCAC c.(1456-1464)del p.QHH486del BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 486 Gln/His-rich. Q -> H (in dbSNP:rs2114202). Missing (in Ref. 2; CAB70863). nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 gcagcagcagcagcaccaccaccaccacc 0.488 8 365 --- --- --- --- PRDM8 56978 broad.mit.edu 37 4 81123250 81123252 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr4:81123250_81123252delCAG ENST00000339711.4 + 10 1865_1867 c.634_636delCAG c.(634-636)del p.Q217del PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 217 Gly-rich.|Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 tggcaaagaccagcagcagcagc 0.655 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 438 --- --- --- --- FGF5 2250 broad.mit.edu 37 4 81187992 81187994 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr4:81187992_81187994delTCC ENST00000456523.3 + 1 200_202 c.14_16delTCC c.(13-18)ttc>t p.FL5del FGF5_ENST00000312465.7_In_Frame_Del_p.FL5del NM_033143.2 NP_149134.1 P12034 FGF5_HUMAN fibroblast growth factor 5 5 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 AGCTTGTCCTTCCTCCTCCTCCT 0.631 8 530 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del 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 8 369 --- --- --- --- DDX60 55601 broad.mit.edu 37 4 169182016 169182016 + Splice_Site DEL A A - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr4:169182016delA ENST00000393743.3 - 25 3689 c.3398_splice c.e25+1 p.L1133_splice DDX60_ENST00000505393.1_5'UTR NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1133 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AATAACTTACAAAAAAAATAG 0.383 7 469 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32419951 32419953 + In_Frame_Del DEL GGT GGT - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr5:32419951_32419953delGGT ENST00000265069.8 - 3 495_497 c.393_395delACC c.(391-396)ccc>cc p.PP131del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 131 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AGTAGCTGGGGGTGGTGGTGGTG 0.483 9 1032 --- --- --- --- MCC 4163 broad.mit.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC rs35336557 TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr5:112824048_112824049insGCC ENST00000408903.3 - 1 478_479 c.63_64insGGC c.(61-66)gggcgg>ggGGCgcgg p.21_22GR>GAR NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 549 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ctgctgccgctgccgccgccgc 0.738 7 92 --- --- --- --- SLC22A4 6583 broad.mit.edu 37 5 131676327 131676327 + Frame_Shift_Del DEL T T - rs72552721 TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr5:131676327delT ENST00000200652.3 + 9 1688 c.1514delT c.(1513-1515)ctfs p.L505fs AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 505 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity p.E509fs*1(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) ATCCTCACCCTTTTTTTCCCT 0.418 10 1111 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149216400 149216402 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr5:149216400_149216402delCAG ENST00000309241.5 + 8 2414_2416 c.2382_2384delCAG c.(2380-2385)gac>ga p.DS794del PPARGC1B_ENST00000394320.3_In_Frame_Del_p.DS794del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.DS730del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.DS755del NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 794 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity p.S795N(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TCTTTGAAGACAGCAGCAGCAGC 0.601 13 869 --- --- --- --- RPP40 10799 broad.mit.edu 37 6 4995424 4995424 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr6:4995424delT ENST00000380051.2 - 8 1024 c.980delA c.(979-981)atfs p.N327fs RPP40_ENST00000464646.1_Frame_Shift_Del_p.N267fs|RPP40_ENST00000319533.5_Frame_Shift_Del_p.N304fs NM_006638.2 NP_006629.2 O75818 RPP40_HUMAN ribonuclease P/MRP 40kDa subunit 327 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 14 Ovarian(93;0.11) all_hematologic(90;0.0895) ACCATGTTCATTTTTTTCCCA 0.393 7 419 --- --- --- --- DEK 7913 broad.mit.edu 37 6 18264079 18264081 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr6:18264079_18264081delTCC ENST00000397239.3 - 2 585_587 c.138_140delGGA c.(136-141)gaa>ga p.EE46del DEK_ENST00000244776.7_In_Frame_Del_p.EE46del NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK oncogene 46 Asp/Glu-rich (highly acidic). chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) CCCACCTTTTtcctcctcctcct 0.532 T NUP214 AML 7 439 --- --- --- --- SLC17A2 10246 broad.mit.edu 37 6 25921520 25921520 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr6:25921520delT ENST00000377850.3 - 4 885 c.361delA c.(361-363)tgfs p.M121fs SLC17A2_ENST00000360488.3_Frame_Shift_Del_p.M121fs|SLC17A2_ENST00000265425.3_Frame_Shift_Del_p.M121fs O00624 NPT3_HUMAN solute carrier family 17, member 2 121 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity p.M121fs*7(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 GCACCAAGCATTTTTTTTGCT 0.453 7 464 --- --- --- --- ZNF184 7738 broad.mit.edu 37 6 27420810 27420810 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr6:27420810delT ENST00000211936.6 - 6 812 c.528delA c.(526-528)aafs p.K176fs ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TTACAGGGCCTTTTTCCCAAC 0.408 10 1553 --- --- --- --- MAS1L 116511 broad.mit.edu 37 6 29455156 29455157 + Frame_Shift_Del DEL AC AC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr6:29455156_29455157delAC ENST00000377127.3 - 1 581_582 c.523_524delGT c.(523-525)cfs p.V175fs NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 175 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 GGGGAAGAGGACACACACACAC 0.495 8 401 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30570264 30570266 + In_Frame_Del DEL GGA GGA - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr6:30570264_30570266delGGA ENST00000376511.2 - 19 2712_2714 c.2160_2162delTCC c.(2158-2163)cca>cc p.PP720del NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 720 Gly-rich. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 GCCTCGGAATggaggaggaggag 0.670 8 404 --- --- --- --- TULP1 7287 broad.mit.edu 37 6 35478775 35478777 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr6:35478775_35478777delTCC ENST00000229771.6 - 5 439_441 c.360_362delGGA c.(358-363)gaa>ga p.EE122del TULP1_ENST00000322263.4_In_Frame_Del_p.EE69del NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 122 Poly-Glu. Missing (in RP14). dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 gtcctcctcttcctcctcctcct 0.567 8 668 --- --- --- --- TREML2 79865 broad.mit.edu 37 6 41168714 41168716 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr6:41168714_41168716delCAG ENST00000483722.1 - 1 216_218 c.31_33delCTG c.(31-33)del p.L11del NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 11 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) CCTGTGGCCACAGCAGCAGCAGC 0.631 10 219 --- --- --- --- RUNX2 860 broad.mit.edu 37 6 45296445 45296446 + Frame_Shift_Ins INS - - A TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr6:45296445_45296446insA ENST00000352853.5 + 2 186_187 c.186_187insA c.(184-189)ctaaaafs p.LK62fs SUPT3H_ENST00000306867.5_Intron|SUPT3H_ENST00000371460.1_Intron|SUPT3H_ENST00000459689.1_Intron|RUNX2_ENST00000371438.1_5'UTR|RUNX2_ENST00000483243.1_3'UTR|RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.LK62fs|SUPT3H_ENST00000371459.1_Intron|RUNX2_ENST00000465038.2_5'UTR Q13950 RUNX2_HUMAN runt-related transcription factor 2 0 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 AGTTCTATCTGAAAAAAAAAGG 0.386 15 374 --- --- --- --- TDRD6 221400 broad.mit.edu 37 6 46660414 46660415 + Frame_Shift_Ins INS - - A rs145334816 TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr6:46660414_46660415insA ENST00000544460.1 + 1 4803_4804 c.4549_4550insA c.(4549-4551)aaafs p.K1517fs TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1517 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GTATAATCCAGAAAAAAAAATG 0.351 10 414 --- --- --- --- MDN1 23195 broad.mit.edu 37 6 90432675 90432675 + Splice_Site DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr6:90432675delT ENST00000369393.3 - 40 6081 c.5967_splice c.e40+1 p.K1989_splice MDN1_ENST00000428876.1_Splice_Site_p.K1989_splice Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1989 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GAAACTCACCTTTTTTTTGTC 0.403 12 964 --- --- --- --- ASCC3 10973 broad.mit.edu 37 6 101296336 101296336 + Frame_Shift_Del DEL A A - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr6:101296336delA ENST00000369162.2 - 4 833 c.489delT c.(487-489)ttfs p.F163fs ASCC3_ENST00000522650.1_Frame_Shift_Del_p.F163fs NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 163 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) AATTTTTACCAAAAAAAACCC 0.333 8 368 --- --- --- --- LAMA4 3910 broad.mit.edu 37 6 112575076 112575077 + Frame_Shift_Del DEL GA GA - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr6:112575076_112575077delGA ENST00000368638.4 - 2 546_547 c.276_277delTC c.(274-279)tccgfs p.SP92fs RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590804.1_RNA|LAMA4_ENST00000453937.2_Frame_Shift_Del_p.SP92fs|LAMA4_ENST00000522006.1_Intron|LAMA4_ENST00000431543.2_Intron|RP11-506B6.6_ENST00000433684.2_RNA|RP11-506B6.6_ENST00000590584.1_RNA|RP11-506B6.6_ENST00000585450.1_RNA|LAMA4_ENST00000389463.4_Intron|RP11-506B6.6_ENST00000590673.1_RNA|LAMA4_ENST00000230538.7_Intron|RP11-506B6.6_ENST00000588837.1_RNA|RP11-506B6.6_ENST00000590293.1_RNA|LAMA4_ENST00000424408.2_Intron Q16363 LAMA4_HUMAN laminin, alpha 4 0 Laminin EGF-like 1. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GAAAGAGGCGGAGAGAGAGAGA 0.584 7 220 --- --- --- --- MED23 9439 broad.mit.edu 37 6 131919846 131919846 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr6:131919846delT ENST00000403834.3 - 19 2467 c.2294delA c.(2293-2295)atfs p.N765fs MED23_ENST00000540546.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000545957.1_Frame_Shift_Del_p.N400fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368060.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368058.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000368068.3_Frame_Shift_Del_p.N759fs Q9ULK4 MED23_HUMAN mediator complex subunit 23 759 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity p.N759fs*7(1)|p.N765fs*7(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) CTCCTCCACATTTTTTTTCAG 0.378 10 542 --- --- --- --- MTHFD1L 25902 broad.mit.edu 37 6 151358163 151358164 + Frame_Shift_Ins INS - - A TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr6:151358163_151358164insA ENST00000367321.3 + 26 3031_3032 c.2757_2758insA c.(2755-2760)gaaaaafs p.EK919fs NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 919 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity p.L914fs*14(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) ACCAACCTGACAAAAAAGGTGT 0.480 8 563 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586662 1586663 + In_Frame_Ins INS - - GCC rs3837151 by1000genomes TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr7:1586662_1586663insGCC ENST00000297477.5 - 9 1483_1484 c.1167_1168insGGC c.(1165-1170)ccgcgg>ccGGCgcgg p.389_390PR>PAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 389 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GAGCCGCCGCTGGGGTGGGTGC 0.703 7 183 --- --- --- --- CARD11 84433 broad.mit.edu 37 7 2963941 2963943 + In_Frame_Del DEL GGA GGA - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr7:2963941_2963943delGGA ENST00000396946.4 - 15 2267_2269 c.1864_1866delTCC c.(1864-1866)del p.S622del NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 622 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CGGATTGGTGGGAGGAGGAGGAG 0.616 Mis DLBCL 9 322 --- --- --- --- OGDH 4967 broad.mit.edu 37 7 44684936 44684936 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr7:44684936delT ENST00000222673.5 + 3 275 c.233delT c.(232-234)atfs p.I78fs OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 78 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.R81fs*19(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TCATGGGACATTTTTTTTCGC 0.577 15 1027 --- --- --- --- AUTS2 26053 broad.mit.edu 37 7 70255577 70255579 + In_Frame_Del DEL CCA CCA - rs35604576 TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr7:70255577_70255579delCCA ENST00000342771.4 + 19 3696_3698 c.3375_3377delCCA c.(3373-3378)agc>ag p.SH1125del AUTS2_ENST00000406775.2_In_Frame_Del_p.SH1101del NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 1125 His-rich. breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) ACGACTACAGccaccaccaccac 0.680 8 92 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72683455 72683456 + RNA INS - - T TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr7:72683455_72683456insT ENST00000425256.1 - 0 120 NR_002164.1 CGTTCTACCAgtttttttttgt 0.441 9 395 --- --- --- --- DTX2 113878 broad.mit.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - rs147779783 byFrequency TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr7:76112249delA ENST00000324432.5 + 5 1203 c.693delA c.(691-693)ccfs p.P231fs DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 231 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 AGCACCCCCCACACAGGACCG 0.657 10 1802 --- --- --- --- TMEM60 85025 broad.mit.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr7:77423460delT ENST00000257663.3 - 2 607 c.231delA c.(229-231)aafs p.K77fs NM_032936.3 NP_116325.1 Q9H2L4 TMM60_HUMAN transmembrane protein 60 77 integral to membrane endometrium(1)|large_intestine(1)|lung(2) 4 GGTACCAGGCTTTTTTTTTAA 0.408 15 767 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100281686 100281688 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr7:100281686_100281688delGCT ENST00000275732.5 - 15 3032_3034 c.1823_1825delAGC c.(1822-1827)ctc>c p.QL608del NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 608 Gln-rich.|Poly-Gln. central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) AATGCCGTGAGCTGCTGCTGCTG 0.690 10 168 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100345611 100345611 + RNA DEL A A - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr7:100345611delA ENST00000542585.1 + 0 1171 ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_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) caagactctgaaaaaaaaaaa 0.502 7 9 --- --- --- --- SRRT 51593 broad.mit.edu 37 7 100479332 100479332 + Frame_Shift_Del DEL G G - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr7:100479332delG ENST00000388793.4 + 4 524 c.304delG c.(304-306)ggfs p.G106fs SRRT_ENST00000347433.4_Frame_Shift_Del_p.G106fs|SRRT_ENST00000432932.1_Frame_Shift_Del_p.G106fs|SRRT_ENST00000457580.2_Frame_Shift_Del_p.G106fs NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 106 G -> GG (in Ref. 3; CAB46374). cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding p.G104fs*45(1) breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GCCCTATGCTGGGGGGGGTGG 0.607 8 291 --- --- --- --- TRBV7-8 0 broad.mit.edu 37 7 142099805 142099806 + RNA DEL AC AC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr7:142099805_142099806delAC ENST00000390359.3 - 0 88 TAGTCATcatacacacacacac 0.441 8 331 --- --- --- --- GOT1L1 137362 broad.mit.edu 37 8 37791833 37791834 + Frame_Shift_Ins INS - - T TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr8:37791833_37791834insT ENST00000307599.4 - 9 1342_1343 c.1243_1244insA c.(1243-1245)actfs p.T415fs NM_152413.2 NP_689626.2 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 415 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1) 14 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) TCCAATCAGTGTTTTTTTTTCC 0.371 13 525 --- --- --- --- STAU2 27067 broad.mit.edu 37 8 74507471 74507471 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr8:74507471delT ENST00000355780.5 - 10 1213 c.995delA c.(994-996)atfs p.N332fs STAU2_ENST00000519961.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000521727.1_Frame_Shift_Del_p.N344fs|STAU2_ENST00000517542.1_Frame_Shift_Del_p.N326fs|STAU2_ENST00000524300.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000523558.1_Frame_Shift_Del_p.N192fs|STAU2_ENST00000522695.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000521210.1_Frame_Shift_Del_p.N260fs|STAU2_ENST00000521451.1_Frame_Shift_Del_p.N144fs|STAU2_ENST00000522509.1_Frame_Shift_Del_p.N332fs NM_014393.2 NP_055208.2 Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 364 DRBM 4. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding p.N332fs*67(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TTCTGCAGCATTTTTTTTGGC 0.328 9 407 --- --- --- --- DCAF13 25879 broad.mit.edu 37 8 104439486 104439487 + Frame_Shift_Ins INS - - T TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr8:104439486_104439487insT ENST00000521971.1 + 4 590_591 c.510_511insT c.(508-513)atttttfs p.IF170fs DCAF13_ENST00000519682.1_Frame_Shift_Ins_p.IF206fs|DCAF13_ENST00000297579.5_Intron|DCAF13_ENST00000521999.1_Intron Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 0 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 TTGAGGTAATGTTTTTTTTTAA 0.277 7 166 --- --- --- --- ATAD2 29028 broad.mit.edu 37 8 124384892 124384893 + Frame_Shift_Ins INS - - T TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr8:124384892_124384893insT ENST00000287394.5 - 3 461_462 c.354_355insA c.(352-357)aaaagafs p.R119fs ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity p.E119fs*8(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CTGTGCTCTTCTTTTTTTTTAT 0.267 15 822 --- --- --- --- TSNARE1 203062 broad.mit.edu 37 8 143310866 143310868 + In_Frame_Del DEL GAT GAT - rs142964918 TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr8:143310866_143310868delGAT ENST00000524325.1 - 13 1691_1693 c.1516_1518delATC c.(1516-1518)del p.I506del TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del|TSNARE1_ENST00000520166.1_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 7 341 --- --- --- --- KANK1 23189 broad.mit.edu 37 9 732475 732477 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr9:732475_732477delGAG ENST00000382303.1 + 10 3755_3757 c.3103_3105delGAG c.(3103-3105)del p.E1039del KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_In_Frame_Del_p.E881del 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 9 669 --- --- --- --- SMARCA2 6595 broad.mit.edu 37 9 2039777 2039779 + In_Frame_Del DEL CAG CAG - rs113070757 byFrequency TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr9:2039777_2039779delCAG ENST00000382203.1 + 4 876_878 c.667_669delCAG c.(667-669)del p.Q238del SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 238 Poly-Gln. Missing (in Ref. 1; CAA51407). chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) gcagcagcaacagcagcagcagc 0.635 13 158 --- --- --- --- RANBP6 26953 broad.mit.edu 37 9 6012690 6012690 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr9:6012690delT ENST00000259569.5 - 1 2928 c.2918delA c.(2917-2919)atfs p.N973fs NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 973 protein transport cytoplasm|nucleus binding p.N973fs*12(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) AGCAATGACATTTTTTTTGGT 0.358 7 434 --- --- --- --- RUSC2 9853 broad.mit.edu 37 9 35560102 35560104 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr9:35560102_35560104delGCT ENST00000455600.1 + 10 4034_4036 c.3465_3467delGCT c.(3463-3468)gag>ga p.EL1155del NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1155 RUN. cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) TCTTTGAAGAGCTGCTGCTGCTG 0.616 7 1141 --- --- --- --- NUP214 8021 broad.mit.edu 37 9 134073008 134073008 + Frame_Shift_Del DEL C C - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr9:134073008delC ENST00000359428.5 + 29 4271 c.4127delC c.(4126-4128)gcfs p.A1376fs NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000451030.1_Frame_Shift_Del_p.A1377fs|NUP214_ENST00000483497.2_Frame_Shift_Del_p.A202fs|NUP214_ENST00000411637.2_Frame_Shift_Del_p.A1366fs P35658 NU214_HUMAN nucleoporin 214kDa 1376 11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) AATTTTACTGCCCCCCCGGTG 0.547 T """DEK, SET, ABL1""" """AML, T-ALL""" 8 587 --- --- --- --- GTF3C5 9328 broad.mit.edu 37 9 135933278 135933280 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr9:135933278_135933280delGAG ENST00000372097.5 + 11 1794_1796 c.1471_1473delGAG c.(1471-1473)del p.E499del GTF3C5_ENST00000342018.8_In_Frame_Del_p.E437del|GTF3C5_ENST00000372099.6_In_Frame_Del_p.E490del|GTF3C5_ENST00000372108.5_In_Frame_Del_p.E506del NM_012087.3 NP_036219.2 Q9Y5Q8 TF3C5_HUMAN general transcription factor IIIC, polypeptide 5, 63kDa 499 Glu-rich.|Poly-Glu. transcription factor TFIIIC complex DNA binding|protein binding endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05) cgaggaggatgaggaggaggagg 0.581 7 376 --- --- --- --- KIAA1462 57608 broad.mit.edu 37 10 30316501 30316503 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr10:30316501_30316503delCTG ENST00000375377.1 - 3 2675_2677 c.2574_2576delCAG c.(2572-2577)agt>ag p.SS858del NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 858 Ser-rich. breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ACTCTCCTCActgctgctgctgc 0.571 23 548 --- --- --- --- AGAP4 119016 broad.mit.edu 37 10 46342668 46342688 + In_Frame_Del DEL GCTCCTGCCATCCTGTCCCCA GCTCCTGCCATCCTGTCCCCA - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA ENST00000448048.2 - 1 233_253 c.108_128delTGGGGACAGGATGGCAGGAGC c.(106-129)gcg>gc p.AGDRMAGA36del AGAP4_ENST00000430779.2_5'UTR NM_133446.2 NP_597703.2 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 36 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.G37_A43delGDRMAGA(1) central_nervous_system(1)|lung(1)|ovary(1) 3 AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT 0.588 8 42 --- --- --- --- ERCC6 2074 broad.mit.edu 37 10 50732139 50732141 + In_Frame_Del DEL CCT CCT - rs4253047 byFrequency TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr10:50732139_50732141delCCT ENST00000355832.5 - 5 1413_1415 c.1335_1337delAGG c.(1333-1338)ggt>gg p.GG445del ERCC6-PGBD3_ENST00000447839.2_In_Frame_Del_p.GG445del|ERCC6-PGBD3_ENST00000515869.1_In_Frame_Del_p.GG445del|PGBD3_ENST00000603152.1_In_Frame_Del_p.GG445del|PGBD3_ENST00000374127.3_5'UTR NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 445 Gly-rich. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CACTTTCCGACCTCCTCCTCCTC 0.458 Direct reversal of damage;Nucleotide excision repair (NER) 7 691 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61828745 61828747 + In_Frame_Del DEL GTG GTG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr10:61828745_61828747delGTG ENST00000280772.1 - 37 12083_12085 c.11892_11894delCAC c.(11890-11895)act>ac p.TT3964del ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_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 10 761 --- --- --- --- LRRTM3 347731 broad.mit.edu 37 10 68687345 68687345 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr10:68687345delT ENST00000361320.4 + 2 1249 c.671delT c.(670-672)ctfs p.L224fs CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 224 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 AACCTGGCCCTTTTTCCAAGG 0.468 7 693 --- --- --- --- CCAR1 55749 broad.mit.edu 37 10 70509285 70509286 + Frame_Shift_Del DEL GA GA - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr10:70509285_70509286delGA ENST00000265872.6 + 10 1080_1081 c.961_962delGA c.(961-963)gfs p.E321fs CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 321 Arg-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 TTTCAGTCGTGAGAGAGAGAGA 0.391 9 264 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr10:81070787_81070789delCTC ENST00000334512.5 + 24 3514_3516 c.2942_2944delCTC c.(2941-2946)gct>g p.AP981del ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 981 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CACAGTGGGGCTCCTCCTCCTCC 0.635 12 1049 --- --- --- --- TNKS2 80351 broad.mit.edu 37 10 93601945 93601946 + Frame_Shift_Ins INS - - A TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr10:93601945_93601946insA ENST00000371627.4 + 16 2235_2236 c.1856_1857insA c.(1855-1857)aaafs p.K619fs NM_025235.3 NP_079511.1 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 619 positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding p.N622fs*29(1) biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 48 Colorectal(252;0.162) GCAGACCCTACAAAAAAAAACA 0.391 11 259 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr10:98336475delT ENST00000371142.4 - 2 430 c.214delA c.(214-216)gtfs p.S72fs NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 72 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TGACTGATACTTTTTTTTGAC 0.363 9 816 --- --- --- --- LZTS2 84445 broad.mit.edu 37 10 102763415 102763417 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr10:102763415_102763417delCCT ENST00000370220.1 + 2 3623_3625 c.560_562delCCT c.(559-564)gcc>g p.AS187del LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 187 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GGGGGCCCTGcctcctcctcctc 0.650 14 1306 --- --- --- --- SH3PXD2A 9644 broad.mit.edu 37 10 105362849 105362851 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr10:105362849_105362851delGAG ENST00000369774.4 - 15 2400_2402 c.2124_2126delCTC c.(2122-2127)tct>tc p.SS708del SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_In_Frame_Del_p.SS680del|SH3PXD2A_ENST00000540321.1_In_Frame_Del_p.SS575del|SH3PXD2A_ENST00000538130.1_In_Frame_Del_p.SS543del Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 708 Ser-rich. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) GGACAaggaagaggaggaggagg 0.576 8 791 --- --- --- --- MKI67 4288 broad.mit.edu 37 10 129902204 129902205 + Frame_Shift_Del DEL TG TG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr10:129902204_129902205delTG ENST00000368654.3 - 13 8274_8275 c.7899_7900delCA c.(7897-7902)caaafs p.HK2633fs MKI67_ENST00000368653.3_Frame_Shift_Del_p.HK2273fs NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2633 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GCTGGTTCTTTGTGTGTGTGTG 0.500 14 676 --- --- --- --- NLRP6 171389 broad.mit.edu 37 11 281553 281555 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr11:281553_281555delGAG ENST00000534750.1 + 4 2024_2026 c.1819_1821delGAG c.(1819-1821)del p.E611del NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CGAAGAGCCAGAGGAGGAGGAGG 0.670 11 826 --- --- --- --- TSPAN4 0 broad.mit.edu 37 11 864443 864445 + In_Frame_Del DEL CTG CTG - rs61867552 byFrequency TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr11:864443_864445delCTG ENST00000397404.1 + 5 521_523 c.262_264delCTG c.(262-264)del p.L92del TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACAGTTCTTCCTGCTGCTGCTGC 0.650 14 679 --- --- --- --- OR10A5 144124 broad.mit.edu 37 11 6867223 6867225 + In_Frame_Del DEL TTC TTC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr11:6867223_6867225delTTC ENST00000299454.4 + 1 341_343 c.310_312delTTC c.(310-312)del p.F108del OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCAGATGTATTTCTTCTTCTTCT 0.517 9 762 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14276276 14276277 + RNA DEL GT GT - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr11:14276276_14276277delGT ENST00000310358.7 + 0 1627 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GACCTATGAGGTGTGTGTGTGT 0.594 9 254 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 19901475 19901477 + In_Frame_Del DEL AGC AGC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr11:19901475_19901477delAGC ENST00000396085.1 + 5 933_935 c.572_574delAGC c.(571-576)aag>a p.KQ191del NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del|NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del|NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 191 CH. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCCCGATACAagcagcagcagca 0.611 12 698 --- --- --- --- KBTBD4 55709 broad.mit.edu 37 11 47599139 47599139 + Frame_Shift_Del DEL A A - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr11:47599139delA ENST00000533290.1 - 1 1202 c.488delT c.(487-489)tgfs p.L163fs KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.L138fs|KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.L187fs|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L154fs|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L138fs|NDUFS3_ENST00000533507.1_Intron Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 138 BACK. NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 24 TGTGCGGGCCAAAAACCGAGA 0.517 8 946 --- --- --- --- OR8I2 120586 broad.mit.edu 37 11 55861308 55861308 + Frame_Shift_Del DEL T T - rs112181516 TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr11:55861308delT ENST00000302124.2 + 1 556 c.525delT c.(523-525)cafs p.H175fs OR8I2_ENST00000560768.1_Frame_Shift_Del_p.H175fs Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C178fs*2(1) NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) GCATCAATCATTTTTTTTGTG 0.443 10 831 --- --- --- --- FAU 2197 broad.mit.edu 37 11 64888248 64888250 + In_Frame_Del DEL TCT TCT - rs1065065 TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr11:64888248_64888250delTCT ENST00000529639.1 - 5 696_698 c.305_307delAGA c.(304-309)aca>a p.KT102del FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000529259.1_3'UTR NM_001997.4 NP_001988.1 P35544 UBIM_HUMAN Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed 0 NS(3)|kidney(1)|large_intestine(2) 6 GCCCGACCTGTCTTCTTCTTCTT 0.542 12 739 --- --- --- --- SYTL2 54843 broad.mit.edu 37 11 85437269 85437269 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr11:85437269delT ENST00000359152.5 - 1 1802 c.1803delA c.(1801-1803)aafs p.K601fs SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000354566.3_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000389960.4_Intron NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 113 Ser-rich. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TTGCCATAACTTTTTTTGGGC 0.373 7 698 --- --- --- --- OR8D4 338662 broad.mit.edu 37 11 123777441 123777442 + Frame_Shift_Ins INS - - T rs79561639 byFrequency TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr11:123777441_123777442insT ENST00000321355.2 + 1 333_334 c.303_304insT c.(301-306)ctttttfs p.LF101fs NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TGATTCAGCTGTTTTTTTTCTG 0.436 10 1658 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080210 7080211 + RNA INS - - G rs141646579 by1000genomes TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr12:7080210_7080211insG ENST00000546220.1 + 0 155_156 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding CGGAGGCCGTAGTTTATTGTGG 0.569 16 86 --- --- --- --- FOXJ2 55810 broad.mit.edu 37 12 8200558 8200560 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 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 18 338 --- --- --- --- LINC00477 0 broad.mit.edu 37 12 24736735 24736735 + RNA DEL A A - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr12:24736735delA ENST00000483544.1 - 0 367 NR_029451.2 GGCGAAGAAGAAAAAAAAATC 0.572 7 368 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46320707 46320708 + Frame_Shift_Del DEL TC TC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr12:46320707_46320708delTC ENST00000465950.1 - 1 3040_3041 c.1831_1832delGA c.(1831-1833)afs p.E611fs SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 926 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 GGTTCTCCTTTCTCTCTCTCTC 0.446 14 908 --- --- --- --- KRT73 319101 broad.mit.edu 37 12 53001991 53001991 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr12:53001991delT ENST00000305748.3 - 9 1646 c.1612delA c.(1612-1614)ccfs p.T538fs RP11-641A6.2_ENST00000551089.1_RNA NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 538 Tail. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) TATCTCATGGTTTTTTTGGTG 0.532 9 1264 --- --- --- --- OR6C65 403282 broad.mit.edu 37 12 55794610 55794610 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr12:55794610delT ENST00000379665.2 + 1 397 c.298delT c.(298-300)ttfs p.F101fs NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L102fs*1(1) cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 GGCCCAAGTATTTTTTTTAAT 0.358 8 741 --- --- --- --- MYO1A 4640 broad.mit.edu 37 12 57422572 57422573 + Frame_Shift_Ins INS - - T TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr12:57422572_57422573insT ENST00000442789.2 - 29 3385_3386 c.3098_3099insA c.(3097-3099)aggfs p.R1033fs TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.R871fs|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.R1033fs NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 1033 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.?(1) breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 AATGACTCCCCTTTTTTTTGTA 0.559 8 600 --- --- --- --- MARS 4141 broad.mit.edu 37 12 57883053 57883053 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr12:57883053delT ENST00000262027.5 + 3 338 c.204delT c.(202-204)tafs p.Y68fs MARS_ENST00000447721.2_Intron|MARS_ENST00000315473.5_5'UTR NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 68 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 33 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) TGGGCAGATATTTTTTTTTGT 0.488 8 349 --- --- --- --- CEP290 80184 broad.mit.edu 37 12 88524079 88524079 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr12:88524079delT ENST00000552810.1 - 9 978 c.635delA c.(634-636)acfs p.N212fs CEP290_ENST00000309041.7_Frame_Shift_Del_p.N212fs NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 212 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 AAGCTCATAGTTTTTTTTAGA 0.318 9 800 --- --- --- --- TDG 6996 broad.mit.edu 37 12 104373688 104373688 + Frame_Shift_Del DEL A A - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr12:104373688delA ENST00000392872.3 + 3 480 c.246delA c.(244-246)tcfs p.S82fs TDG_ENST00000544861.1_5'UTR|TDG_ENST00000266775.9_Frame_Shift_Del_p.S78fs NM_003211.4 NP_003202.3 Q13569 TDG_HUMAN thymine-DNA glycosylase 82 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) CTGTTGAGTCAAAAAAATCTG 0.328 Base excision repair (BER), DNA glycosylases 7 394 --- --- --- --- SBNO1 55206 broad.mit.edu 37 12 123794283 123794283 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr12:123794283delT ENST00000420886.2 - 25 3415 c.3416delA c.(3415-3417)atfs p.N1139fs SBNO1_ENST00000267176.4_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000602750.1_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000602398.1_Frame_Shift_Del_p.N1139fs NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1139 ATP binding|DNA binding|hydrolase activity p.N1138fs*9(1) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ATATCTTCCATTTTTTTTGGC 0.388 8 533 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagca 0.564 22 314 --- --- --- --- SACS 26278 broad.mit.edu 37 13 23914687 23914687 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr13:23914687delT ENST00000382298.3 - 10 3916 c.3328delA c.(3328-3330)ttfs p.I1110fs SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.I1110fs NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1110 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AAGGCTTCAATTTTTTTTGCC 0.383 20 1521 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671333 25671333 + Frame_Shift_Del DEL A A - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr13:25671333delA ENST00000281589.3 + 1 1034 c.997delA c.(997-999)aafs p.K333fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 333 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding p.F335fs*19(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TGGTCGCAGCAAAGGGTTTGG 0.428 9 1164 --- --- --- --- WASF3 10810 broad.mit.edu 37 13 27250862 27250863 + Splice_Site DEL GT GT - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr13:27250862_27250863delGT ENST00000335327.5 + 7 894 c.e7+1 WASF3_ENST00000361042.4_Intron NM_006646.5 NP_006637.2 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CAGATACTAGGTGTGTGTGTGT 0.475 7 408 --- --- --- --- HSPH1 10808 broad.mit.edu 37 13 31715381 31715382 + Frame_Shift_Ins INS - - T TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr13:31715381_31715382insT ENST00000320027.5 - 13 2075_2076 c.1731_1732insA c.(1729-1734)aattgafs p.N*577fs HSPH1_ENST00000380405.4_Frame_Shift_Ins_p.N*533fs|HSPH1_ENST00000445273.2_Frame_Shift_Ins_p.N*579fs|HSPH1_ENST00000429785.2_Frame_Shift_Ins_p.N*396fs|HSPH1_ENST00000380406.5_Frame_Shift_Ins_p.N*536fs NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 577 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) GGCTGGTCAACTTTTTTTTCAT 0.376 7 618 --- --- --- --- EEF1DP3 0 broad.mit.edu 37 13 32527507 32527508 + RNA DEL GT GT - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr13:32527507_32527508delGT ENST00000428783.1 + 0 1207_1208 TCTGGCCTGAGTGTGTGTGTGT 0.460 11 398 --- --- --- --- KBTBD6 89890 broad.mit.edu 37 13 41705686 41705688 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr13:41705686_41705688delCTG ENST00000379485.1 - 1 1194_1196 c.960_962delCAG c.(958-963)agt>ag p.SS322del KBTBD6_ENST00000499385.2_In_Frame_Del_p.SS256del NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 322 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) gctgctgctactgctgctgctgc 0.522 7 253 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45148691 45148693 + In_Frame_Del DEL TGT TGT - rs148625973 TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr13:45148691_45148693delTGT ENST00000458659.2 - 1 2008_2010 c.1518_1520delACA c.(1516-1521)cag>ca p.QQ508del TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ508del NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 508 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TGgttgttgctgttgttgttgtt 0.502 11 793 --- --- --- --- FBXL3 26224 broad.mit.edu 37 13 77581683 77581683 + Frame_Shift_Del DEL A A - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr13:77581683delA ENST00000355619.5 - 5 1208 c.884delT c.(883-885)tafs p.L295fs FBXL3_ENST00000477982.1_Intron NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 295 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.L295fs*3(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) TTCTTCATATAAAAAAAAATA 0.418 8 375 --- --- --- --- ZIC2 7546 broad.mit.edu 37 13 100635008 100635010 + In_Frame_Del DEL CCA CCA - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr13:100635008_100635010delCCA ENST00000376335.3 + 1 983_985 c.690_692delCCA c.(688-693)gcc>gc p.AH230del NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 230 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAGCCGCGGCccaccaccaccac 0.621 19 314 --- --- --- --- TRAV9-1 0 broad.mit.edu 37 14 22279845 22279846 + RNA INS - - T TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr14:22279845_22279846insT ENST00000390431.3 + 0 46 TAATTTGTTTATTTTTTTTTCA 0.406 7 106 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23341527 23341529 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 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 11 519 --- --- --- --- FAM177A1 283635 broad.mit.edu 37 14 35550228 35550230 + Splice_Site DEL GAA GAA - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr14:35550228_35550230delGAA ENST00000396472.1 + 7 895_897 c.435_splice c.e7-1 p.E152_splice FAM177A1_ENST00000382406.3_Splice_Site_p.E152_splice|FAM177A1_ENST00000280987.4_Splice_Site_p.E175_splice NM_001079519.1 NP_001072987.1 Q8N128 F177A_HUMAN family with sequence similarity 177, member A1 152 breast(1)|large_intestine(1)|lung(2)|urinary_tract(1) 5 TTTTTTTTAGgaagaagaagaag 0.330 7 121 --- --- --- --- FBXO34 55030 broad.mit.edu 37 14 55818353 55818353 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr14:55818353delT ENST00000313833.4 + 2 1490 c.1245delT c.(1243-1245)ccfs p.P415fs FBXO34_ENST00000440021.1_Frame_Shift_Del_p.P415fs NM_017943.3 NP_060413.2 Q9NWN3 FBX34_HUMAN F-box protein 34 415 breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3) 22 TTGGGTTACCTTTTTCCTCTC 0.463 8 946 --- --- --- --- PRKCH 5583 broad.mit.edu 37 14 62014535 62014535 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr14:62014535delT ENST00000332981.5 + 13 2221 c.1836delT c.(1834-1836)ccfs p.P612fs PRKCH_ENST00000555082.1_Frame_Shift_Del_p.P451fs|RP11-47I22.4_ENST00000556347.1_Frame_Shift_Del_p.L117fs|PRKCH_ENST00000556245.1_3'UTR NM_006255.3 NP_006246.2 P24723 KPCL_HUMAN protein kinase C, eta 612 Protein kinase. P -> S (in dbSNP:rs34159231). intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) TGAGACATCCTTTTTTTAAGG 0.522 7 1839 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr14:73572607_73572608delAG ENST00000261973.7 + 11 1480_1481 c.1195_1196delAG c.(1195-1197)afs p.R399fs RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 399 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) agagcgggaaagagagagagag 0.446 21 192 --- --- --- --- CHGA 1113 broad.mit.edu 37 14 93397924 93397926 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr14:93397924_93397926delGAG ENST00000216492.5 + 6 965_967 c.685_687delGAG c.(685-687)del p.E236del CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 236 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) AAAGAGAgaagaggaggaggagg 0.645 7 225 --- --- --- --- BTBD7 55727 broad.mit.edu 37 14 93720048 93720048 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr14:93720048delT ENST00000334746.5 - 7 2004 c.1697delA c.(1696-1698)atfs p.N566fs BTBD7_ENST00000393170.2_Frame_Shift_Del_p.N140fs|BTBD7_ENST00000554565.1_Frame_Shift_Del_p.N215fs NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 566 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GATGCCAGCATTTTTTTGCCG 0.388 7 658 --- --- --- --- CHEK2P2 0 broad.mit.edu 37 15 20490739 20490739 + RNA DEL G G - rs143465906 TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr15:20490739delG ENST00000555186.1 + 0 568 NR_038836.1 GTTACAACCTGtttttttttt 0.423 7 339 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 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 12 1014 --- --- --- --- MGA 23269 broad.mit.edu 37 15 42003383 42003385 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr15:42003383_42003385delCAG ENST00000219905.7 + 8 3101_3103 c.2920_2922delCAG c.(2920-2922)del p.Q981del MGA_ENST00000389936.4_In_Frame_Del_p.Q981del|MGA_ENST00000545763.1_In_Frame_Del_p.Q981del|MGA_ENST00000566586.1_In_Frame_Del_p.Q981del|MGA_ENST00000570161.1_In_Frame_Del_p.Q981del NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 981 Gln-rich. MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GCGGCAGGCACAGCAGCAGCAGC 0.458 7 487 --- --- --- --- SPATA5L1 79029 broad.mit.edu 37 15 45710840 45710841 + Frame_Shift_Ins INS - - T TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr15:45710840_45710841insT ENST00000305560.6 + 7 2153_2154 c.2054_2055insT c.(2053-2055)tttfs p.F685fs SPATA5L1_ENST00000533841.1_3'UTR NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 685 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) GCAGAAACCTGTTTTTTTTCTG 0.361 7 521 --- --- --- --- SLTM 79811 broad.mit.edu 37 15 59182564 59182565 + Frame_Shift_Del DEL CT CT - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr15:59182564_59182565delCT ENST00000380516.2 - 15 2081_2082 c.1994_1995delAG c.(1993-1995)gfs p.E665fs SLTM_ENST00000536328.1_Frame_Shift_Del_p.E234fs|AC025918.2_ENST00000452467.1_RNA NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 665 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TTTCTAGGCGCTCTCTCTCTCT 0.475 22 863 --- --- --- --- NARG2 79664 broad.mit.edu 37 15 60745782 60745782 + Frame_Shift_Del DEL A A - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr15:60745782delA ENST00000561114.1 - 9 1307 c.1145delT c.(1144-1146)tcfs p.F382fs NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron NM_001276385.1 NP_001263314.1 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 0 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 CCCTTAGGGGAAAAAAAAAGC 0.338 9 249 --- --- --- --- PARP16 54956 broad.mit.edu 37 15 65551806 65551808 + In_Frame_Del DEL AGC AGC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr15:65551806_65551808delAGC ENST00000261888.6 - 6 1354_1356 c.909_911delGCT c.(907-912)ctc>ct p.LL303del PARP16_ENST00000444347.2_In_Frame_Del_p.LL187del NM_017851.4 NP_060321.3 Q8N5Y8 PAR16_HUMAN poly (ADP-ribose) polymerase family, member 16 302 Poly-Leu. integral to membrane NAD+ ADP-ribosyltransferase activity kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 ACTCACTATGAGCAGCAGCAGCA 0.488 7 829 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65943128 65943130 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr15:65943128_65943130delGAG ENST00000261892.6 + 7 2928_2930 c.2641_2643delGAG c.(2641-2643)del p.E890del SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 890 Poly-Glu. response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 gcaggaggaagaggaggaggagg 0.562 8 156 --- --- --- --- ADAMTS7 11173 broad.mit.edu 37 15 79058183 79058184 + Frame_Shift_Ins INS - - TGGGTCC TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr15:79058183_79058184insTGGGTCC ENST00000388820.4 - 19 4279_4280 c.4069_4070insGGACCCA c.(4069-4071)gggfs p.-1357fs NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 AGGCTGACCCTTGGGTCCTGGG 0.653 8 122 --- --- --- --- VPS33B 26276 broad.mit.edu 37 15 91550236 91550238 + In_Frame_Del DEL TCC TCC - rs147271815 TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr15:91550236_91550238delTCC ENST00000333371.3 - 9 995_997 c.642_644delGGA c.(640-645)gat>ga p.ED214del VPS33B_ENST00000535906.1_In_Frame_Del_p.ED187del|VPS33B_ENST00000535843.1_In_Frame_Del_p.ED123del NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) 214 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) GGTTTCGCCATCCTCCTCCTCCT 0.522 7 808 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974509 93974510 + RNA DEL TC TC - rs57286078 TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr15:93974509_93974510delTC ENST00000543286.1 + 0 545 TTGGCTGGGTTCtttttttttt 0.431 11 210 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974510 93974510 + RNA DEL C C - rs57286078 TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr15:93974510delC ENST00000543286.1 + 0 545 TGGCTGGGTTCtttttttttt 0.433 15 201 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 8 32 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 10 73 --- --- --- --- Z97634.5 0 broad.mit.edu 37 16 437259 437260 + RNA DEL AT AT - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr16:437259_437260delAT ENST00000412293.1 + 0 521 NR_024453.2 CTAATTCTAAATATATATATAT 0.421 17 151 --- --- --- --- RAB40C 57799 broad.mit.edu 37 16 677579 677580 + Frame_Shift_Ins INS - - C TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr16:677579_677580insC ENST00000535977.1 + 7 1025_1026 c.803_804insC c.(802-804)accfs p.T268fs RAB40C_ENST00000248139.3_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000539661.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000538492.1_Frame_Shift_Ins_p.T268fs NM_001172663.1 NP_001166134.1 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 268 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding p.Q271fs*7(1) NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) CCACCCCAGAGCCCCCCCCAGA 0.678 8 445 --- --- --- --- UBN1 29855 broad.mit.edu 37 16 4910691 4910693 + In_Frame_Del DEL AGA AGA - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr16:4910691_4910693delAGA ENST00000396658.4 + 6 1401_1403 c.698_700delAGA c.(697-702)gag>g p.EK233del UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 233 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.K234E(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GCCAGTAAGGAGAAGAAGAAGAA 0.453 9 1486 --- --- --- --- SLC5A11 115584 broad.mit.edu 37 16 24921737 24921739 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr16:24921737_24921739delCAG ENST00000347898.3 + 15 2383_2385 c.1761_1763delCAG c.(1759-1764)gcc>gc p.AS587del SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del|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 10 444 --- --- --- --- SH2B1 25970 broad.mit.edu 37 16 28883208 28883208 + Frame_Shift_Del DEL C C - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr16:28883208delC ENST00000337120.5 + 5 4708 c.1417delC c.(1417-1419)ccfs p.P474fs SH2B1_ENST00000359285.5_Frame_Shift_Del_p.P474fs|SH2B1_ENST00000322610.8_Frame_Shift_Del_p.P474fs|SH2B1_ENST00000545570.1_Frame_Shift_Del_p.P164fs|SH2B1_ENST00000538342.1_Frame_Shift_Del_p.P138fs|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Frame_Shift_Del_p.P474fs NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 474 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 CCCAGAGTTGCCCCCCCGCAT 0.632 7 681 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29994531 29994533 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr16:29994531_29994533delGAG ENST00000308893.4 + 12 2181_2183 c.1138_1140delGAG c.(1138-1140)del p.E392del TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 392 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CAACgaggaagaggaggaggagg 0.611 10 409 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30736370 30736371 + Frame_Shift_Ins INS - - C TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr16:30736370_30736371insC ENST00000262518.4 + 25 6010_6011 c.5625_5626insC c.(5623-5628)caccccfs p.HP1875fs SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.HP1813fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.HP1717fs NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1875 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CTCGACGCCAGCCCCCCCCACC 0.569 16 904 --- --- --- --- SALL1 6299 broad.mit.edu 37 16 51175413 51175415 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr16:51175413_51175415delCTG ENST00000440970.1 - 2 858_860 c.427_429delCAG c.(427-429)del p.Q143del SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.Q240del|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 240 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GCTGGTGGATCTGCTGCTGCTGC 0.562 8 739 --- --- --- --- RP11-44F14.1 0 broad.mit.edu 37 16 53404542 53404543 + RNA INS - - A TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr16:53404542_53404543insA ENST00000565421.1 - 0 410 TCTCCTTTCTCAAACTTAACCT 0.327 10 233 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67913767 67913769 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr16:67913767_67913769delCAG ENST00000358933.5 + 16 2075_2077 c.1836_1838delCAG c.(1834-1839)ccc>cc p.PS612del NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 612 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTGCCTCTCCcagcagcagcagc 0.611 7 522 --- --- --- --- CTRL 1506 broad.mit.edu 37 16 67963919 67963919 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr16:67963919delT ENST00000574481.1 - 7 1274 c.713delA c.(712-714)acfs p.N238fs NM_001907.2 NP_001898.1 P40313 CTRL_HUMAN chymotrypsin-like 238 Peptidase S1. digestion|proteolysis extracellular space serine-type endopeptidase activity kidney(1)|large_intestine(2)|urinary_tract(1) 4 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) CACATTGCAGTTTTTGGTGCC 0.552 7 718 --- --- --- --- NFAT5 10725 broad.mit.edu 37 16 69726420 69726422 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr16:69726420_69726422delCAG ENST00000349945.1 + 14 3962_3964 c.2410_2412delCAG c.(2410-2412)del p.Q812del NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 888 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.Q804Q(1)|p.Q898Q(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 ATCTAATcaacagcagcagcagc 0.473 7 368 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72822441 72822441 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr16:72822441delT ENST00000268489.5 - 10 10406 c.9734delA c.(9733-9735)agfs p.K3245fs ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.K2331fs NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3245 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 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) TTTGTGTGCCTTTTCCTTCTC 0.617 7 1697 --- --- --- --- ADAMTS18 170692 broad.mit.edu 37 16 77356311 77356311 + Frame_Shift_Del DEL A A - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr16:77356311delA ENST00000282849.5 - 14 2503 c.2085delT c.(2083-2085)ttfs p.F695fs NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 695 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.A696fs*18(2) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CGGACATTGCAAAAAAAAATT 0.403 11 591 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr17:3721809_3721811delTCC ENST00000158149.3 - 11 1111_1113 c.216_218delGGA c.(214-219)gaa>ga p.EE78del C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 358 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ctcttcctcttcctcctcctcct 0.507 10 649 --- --- --- --- CHRNB1 1140 broad.mit.edu 37 17 7357666 7357668 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr17:7357666_7357668delCTG ENST00000306071.2 + 8 938_940 c.871_873delCTG c.(871-873)del p.L294del CHRNB1_ENST00000536404.2_In_Frame_Del_p.L222del|CHRNB1_ENST00000576360.1_Intron NM_000747.2 NP_000738.2 P11230 ACHB_HUMAN cholinergic receptor, nicotinic, beta 1 (muscle) 294 behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine binding|receptor activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3) 23 Prostate(122;0.157) TACTGTGTTCCTGCTGCTGCTGG 0.498 8 826 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8415820 8415822 + In_Frame_Del DEL TTC TTC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr17:8415820_8415822delTTC ENST00000360416.3 - 24 3037_3039 c.2899_2901delGAA c.(2899-2901)del p.E967del MYH10_ENST00000269243.4_In_Frame_Del_p.E936del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del 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 7 394 --- --- --- --- MED9 55090 broad.mit.edu 37 17 17394705 17394707 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr17:17394705_17394707delCAG ENST00000268711.3 + 2 393_395 c.337_339delCAG c.(337-339)del p.Q117del NM_018019.2 NP_060489.1 Q9NWA0 MED9_HUMAN mediator complex subunit 9 117 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent protein binding cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GAGCCCCGAACAGCAGCAGCAGC 0.581 9 749 --- --- --- --- SMCR7 0 broad.mit.edu 37 17 18167778 18167780 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr17:18167778_18167780delGCT ENST00000323019.4 + 4 1276_1278 c.1065_1067delGCT c.(1063-1068)cgg>cg p.RL355del SMCR7_ENST00000395704.4_3'UTR|SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del NM_001144900.1|NM_139162.3 NP_001138372.1|NP_631901.2 Q96C03 SMCR7_HUMAN 355 integral to membrane protein binding p.L356R(1) breast(1)|central_nervous_system(1)|endometrium(3)|lung(4) 9 all_neural(463;0.228) CTCGCCGGCGGCTGCTGCTGCTG 0.685 9 460 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27001303 27001305 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr17:27001303_27001305delGAG ENST00000314616.6 + 3 395_397 c.112_114delGAG c.(112-114)del p.E43del SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 43 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TCTTCCAGATGAGGAGGAGGAGG 0.453 8 197 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34071994 34071996 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr17:34071994_34071996delTCC ENST00000254466.6 - 6 2547_2549 c.2520_2522delGGA c.(2518-2523)gaa>ga p.EE840del GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 840 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ctcctttccttcctcctcctcct 0.616 10 369 --- --- --- --- HOXB2 3212 broad.mit.edu 37 17 46622130 46622132 + In_Frame_Del DEL AGG AGG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr17:46622130_46622132delAGG ENST00000330070.4 - 1 1309_1311 c.142_144delCCT c.(142-144)del p.P48del HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 48 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 TTTGCTCGAAAGGAGGAGGAGGA 0.596 9 544 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 10 108 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141015 66141016 + RNA INS - - A TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr17:66141015_66141016insA ENST00000590019.1 - 0 70 CCAAGATTTCTACAAAAAAAAA 0.322 10 247 --- --- --- --- SRP68 6730 broad.mit.edu 37 17 74068528 74068530 + In_Frame_Del DEL GCC GCC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr17:74068528_74068530delGCC ENST00000307877.2 - 1 204_206 c.43_45delGGC c.(43-45)del p.G15del SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 15 Poly-Gly. Missing (in Ref. 1). response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 cgccgccactgccgccgccgccg 0.709 7 389 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112482 112482 + RNA DEL C C - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr18:112482delC ENST00000576266.1 + 0 116 AGGGGTGCTTCCAGCGAGGCG 0.622 7 138 --- --- --- --- SOGA2 23255 broad.mit.edu 37 18 8793004 8793004 + Frame_Shift_Del DEL C C - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr18:8793004delC ENST00000359865.3 + 8 2038 c.1896delC c.(1894-1896)ggfs p.G632fs SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000400050.3_Intron NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 980 AGCTCAGGGGCCCCCCCGTTT 0.552 8 1109 --- --- --- --- SEH1L 81929 broad.mit.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr18:12986927_12986929delTCC ENST00000399892.2 + 9 1238_1240 c.1137_1139delTCC c.(1135-1140)ctt>ct p.LP379del RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000262124.11_3'UTR 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 11 288 --- --- --- --- OSBPL1A 114876 broad.mit.edu 37 18 21745096 21745097 + Frame_Shift_Ins INS - - T TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr18:21745096_21745097insT ENST00000319481.3 - 27 2888_2889 c.2682_2683insA c.(2680-2685)aagactfs p.T895fs OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T382fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T513fs NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 895 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TCCTCAAGTCGTTTTTTTTCTT 0.460 11 1062 --- --- --- --- LMAN1 3998 broad.mit.edu 37 18 57013193 57013194 + Frame_Shift_Ins INS - - T TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr18:57013193_57013194insT ENST00000251047.5 - 8 1629_1630 c.912_913insA c.(910-915)aaaggafs p.G305fs NM_005570.3 NP_005561.1 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 305 blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) TGGAATTCCTCTTTTTTTTTAT 0.455 11 652 --- --- --- --- TNFSF9 8744 broad.mit.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr19:6531149_6531151delGCT ENST00000245817.3 + 1 140_142 c.102_104delGCT c.(100-105)ggg>gg p.GL34del NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 34 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 TGGTCGCGGGgctgctgctgctg 0.768 12 396 --- --- --- --- ZNF442 79973 broad.mit.edu 37 19 12461741 12461741 + Frame_Shift_Del DEL A A - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr19:12461741delA ENST00000242804.4 - 6 1240 c.658delT c.(658-660)ggfs p.W220fs ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 AAACTAGGCCAAAAAAAGGCT 0.403 9 982 --- --- --- --- ZNF43 7594 broad.mit.edu 37 19 22002025 22002026 + Splice_Site INS - - A TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr19:22002025_22002026insA ENST00000594012.1 - 5 500 c.e5-2 ZNF43_ENST00000354959.4_Splice_Site|ZNF43_ENST00000598381.1_Splice_Site|ZNF43_ENST00000598288.1_Splice_Site|ZNF43_ENST00000595461.1_Splice_Site NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.?(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) CAATGGTCCCTAAAAAAAACAA 0.386 8 586 --- --- --- --- SERTAD1 29950 broad.mit.edu 37 19 40929409 40929411 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr19:40929409_40929411delCTC ENST00000357949.4 - 2 201_203 c.43_45delGAG c.(43-45)del p.E15del NM_013376.3 NP_037508.2 Q9UHV2 SRTD1_HUMAN SERTA domain containing 1 15 positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(2)|lung(1)|prostate(1)|skin(1) 5 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGGTTCCTTCTCCTCCTCCTCC 0.557 7 419 --- --- --- --- LIPE-AS1 0 broad.mit.edu 37 19 43136362 43136363 + RNA DEL TG TG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr19:43136362_43136363delTG ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000594624.2_RNA NR_073179.1 TGAGTATGTATGTGTGTGTGTG 0.505 10 167 --- --- --- --- PVRL2 5819 broad.mit.edu 37 19 45381749 45381751 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr19:45381749_45381751delGAG ENST00000252485.4 + 6 1663_1665 c.1312_1314delGAG c.(1312-1314)del p.E445del PVRL2_ENST00000252483.5_Intron NM_002856.2 NP_002847.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 504 adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) TGGCAaggatgaggaggaggagg 0.591 9 142 --- --- --- --- PNMAL1 55228 broad.mit.edu 37 19 46973195 46973197 + In_Frame_Del DEL CTT CTT - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr19:46973195_46973197delCTT ENST00000313683.10 - 2 1401_1403 c.1096_1098delAAG c.(1096-1098)del p.K366del PNMAL1_ENST00000438932.2_Splice_Site_p.K366_splice|PNMAL1_ENST00000602246.1_Intron NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 366 cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) CCAAGCTCACCTTCTTCTTCTTC 0.562 8 1413 --- --- --- --- DHX34 9704 broad.mit.edu 37 19 47883158 47883160 + In_Frame_Del DEL GGA GGA - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr19:47883158_47883160delGGA ENST00000328771.4 + 14 3247_3249 c.2898_2900delGGA c.(2896-2901)ctg>ct p.LE966del NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 966 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) AGCAGCAGCTGGAGGAGGAGGAG 0.660 8 345 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del 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 16 698 --- --- --- --- FLT3LG 0 broad.mit.edu 37 19 49978960 49978962 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr19:49978960_49978962delCTG ENST00000594009.1 + 2 125_127 c.46_48delCTG c.(46-48)del p.L20del FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del 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 7 385 --- --- --- --- CTD-2616J11.14 0 broad.mit.edu 37 19 51906669 51906670 + RNA INS - - T TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr19:51906669_51906670insT ENST00000600765.1 + 0 324_325 GGTTGTTCTTGTTTTTTTTGCT 0.446 7 225 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gat>ga p.ED67del TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 16 510 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 479 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAtcctactgctcctcctcctcc 0.581 HNSCC(37;0.09) 13 380 --- --- --- --- ZNF416 55659 broad.mit.edu 37 19 58084579 58084579 + Frame_Shift_Del DEL A A - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr19:58084579delA ENST00000196489.3 - 4 915 c.693delT c.(691-693)ttfs p.F231fs NM_017879.1 NP_060349.1 Q9BWM5 ZN416_HUMAN zinc finger protein 416 231 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) CTCTAGGGTGAAAAAAAGTGT 0.453 7 1371 --- --- --- --- PANK2 80025 broad.mit.edu 37 20 3893120 3893120 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr20:3893120delT ENST00000497424.1 + 4 689 c.378delT c.(376-378)acfs p.T126fs PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs|PANK2_ENST00000336066.3_3'UTR NM_024960.4|NM_153640.2 NP_079236.3|NP_705904.1 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 417 G -> A (in dbSNP:rs3737084). cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GAGGAGGAACTTTTTTTGGTC 0.343 8 1323 --- --- --- --- DDX27 55661 broad.mit.edu 37 20 47858504 47858504 + Frame_Shift_Del DEL A A - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr20:47858504delA ENST00000371764.4 + 17 2074 c.2065delA c.(2065-2067)aafs p.K691fs ZNFX1_ENST00000469991.1_Intron|ZNFX1_ENST00000371754.4_Intron|DDX27_ENST00000484427.1_3'UTR NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 691 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.K691fs*4(3) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GAAGGATGCCAAAAAAAAGGG 0.488 14 558 --- --- --- --- PRDM15 63977 broad.mit.edu 37 21 43221415 43221417 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr21:43221415_43221417delCTG ENST00000422911.1 - 25 3681_3683 c.3580_3582delCAG c.(3580-3582)del p.Q1194del PRDM15_ENST00000447207.2_In_Frame_Del_p.Q1137del|PRDM15_ENST00000398548.1_In_Frame_Del_p.Q1174del|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000538201.1_In_Frame_Del_p.Q1157del|PRDM15_ENST00000269844.3_In_Frame_Del_p.Q1503del P57071 PRD15_HUMAN PR domain containing 15 1503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 AGCTGTACATCTGCTGCTGCTGC 0.611 12 570 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918916 20918918 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr22:20918916_20918918delCAG ENST00000263205.7 + 6 700_702 c.631_633delCAG c.(631-633)del p.Q218del MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 218 Poly-Gln. Missing (in Ref. 4; CAG30423). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) gcagcagctccagcagcagcagc 0.567 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 164 --- --- --- --- PICK1 9463 broad.mit.edu 37 22 38471034 38471036 + In_Frame_Del DEL GGA GGA - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 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 11 193 --- --- --- --- PKDREJ 10343 broad.mit.edu 37 22 46653562 46653562 + Frame_Shift_Del DEL A A - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chr22:46653562delA ENST00000253255.5 - 1 5657 c.5658delT c.(5656-5658)ttfs p.F1886fs NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1886 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GCTGTTCTGGAAAAAAATAGA 0.408 7 602 --- --- --- --- GAGE2D 729408 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chrX:49208295_49208296insTAT ENST00000404720.2 + 2 96_97 c.24_25insTAT c.(22-27)acatcg>acTATatcg p.8_9TS>TIS NM_001098407.1|NM_012196.1 NP_001091877.1|NP_036328.1 G antigen 2D GAAGATCGACCTATCGGCCTAG 0.465 9 178 --- --- --- --- NAP1L2 4674 broad.mit.edu 37 X 72433664 72433666 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chrX:72433664_72433666delTCC ENST00000373517.3 - 1 1018_1020 c.663_665delGGA c.(661-666)gac>ga p.ED221del NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 221 Glu-rich (acidic). nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) CTCAATGTCGtcctcctcctcct 0.424 9 168 --- --- --- --- SPANXN2 494119 broad.mit.edu 37 X 142803692 142803692 + Frame_Shift_Del DEL T T - TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 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 9 719 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149937526 149937528 + In_Frame_Del DEL GGC GGC - rs7877654 byFrequency TCGA-HZ-7923-01A-12D-2154-08 TCGA-HZ-7923-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx a75a6eb9-4d65-4109-9507-f4ce26beb471 ed657707-e905-4a64-93ba-9139dbb1fb60 g.chrX:149937526_149937528delGGC ENST00000370377.3 - 11 885_887 c.768_770delGCC c.(766-771)ccc>cc p.PP256del CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 256 Poly-Pro. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGCTGGTTCGGGCGGCGGCGGCG 0.611 7 625 --- --- --- ---