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 COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_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 ACHILLES_Lineage_Results_Top_Genes CGC_CancerGermlineMut CGC_CancerMolecularGenetics CGC_CancerSomaticMut CGC_CancerSyndrome CGC_Chr CGC_ChrBand CGC_GeneID CGC_Name CGC_OtherGermlineMut CGC_TissueType COSMIC_n_overlapping_mutations COSMIC_overlapping_mutation_descriptions ClinVar_ASSEMBLY ClinVar_HGMD_ID ClinVar_SYM ClinVar_TYPE ClinVar_rs Ensembl_so_accession Ensembl_so_term Familial_Cancer_Genes_Reference Familial_Cancer_Genes_Synonym annotation_transcript bcgsc broad build ccds_id dbNSFP_1000Gp1_AC dbNSFP_1000Gp1_AF dbNSFP_1000Gp1_AFR_AC dbNSFP_1000Gp1_AFR_AF dbNSFP_1000Gp1_AMR_AC dbNSFP_1000Gp1_AMR_AF dbNSFP_1000Gp1_ASN_AC dbNSFP_1000Gp1_ASN_AF dbNSFP_1000Gp1_EUR_AC dbNSFP_1000Gp1_EUR_AF dbNSFP_Ancestral_allele dbNSFP_CADD_phred dbNSFP_CADD_raw dbNSFP_CADD_raw_rankscore dbNSFP_ESP6500_AA_AF dbNSFP_ESP6500_EA_AF dbNSFP_Ensembl_geneid dbNSFP_Ensembl_transcriptid dbNSFP_FATHMM_pred dbNSFP_FATHMM_rankscore dbNSFP_FATHMM_score dbNSFP_GERP_NR dbNSFP_GERP_RS dbNSFP_GERP_RS_rankscore dbNSFP_Interpro_domain dbNSFP_LRT_Omega dbNSFP_LRT_converted_rankscore dbNSFP_LRT_pred dbNSFP_LRT_score dbNSFP_LR_pred dbNSFP_LR_rankscore dbNSFP_LR_score dbNSFP_MutationAssessor_pred dbNSFP_MutationAssessor_rankscore dbNSFP_MutationAssessor_score dbNSFP_MutationTaster_converted_rankscore dbNSFP_MutationTaster_pred dbNSFP_MutationTaster_score dbNSFP_Polyphen2_HDIV_pred dbNSFP_Polyphen2_HDIV_rankscore dbNSFP_Polyphen2_HDIV_score dbNSFP_Polyphen2_HVAR_pred dbNSFP_Polyphen2_HVAR_rankscore dbNSFP_Polyphen2_HVAR_score dbNSFP_RadialSVM_pred dbNSFP_RadialSVM_rankscore dbNSFP_RadialSVM_score dbNSFP_Reliability_index dbNSFP_SIFT_converted_rankscore dbNSFP_SIFT_pred dbNSFP_SIFT_score dbNSFP_SLR_test_statistic dbNSFP_SiPhy_29way_logOdds dbNSFP_SiPhy_29way_logOdds_rankscore dbNSFP_SiPhy_29way_pi dbNSFP_UniSNP_ids dbNSFP_Uniprot_aapos dbNSFP_Uniprot_acc dbNSFP_Uniprot_id dbNSFP_aaalt dbNSFP_aapos dbNSFP_aapos_FATHMM dbNSFP_aapos_SIFT dbNSFP_aaref dbNSFP_cds_strand dbNSFP_codonpos dbNSFP_folddegenerate dbNSFP_genename dbNSFP_hg18_pos1coor dbNSFP_phastCons100way_vertebrate dbNSFP_phastCons100way_vertebrate_rankscore dbNSFP_phastCons46way_placental dbNSFP_phastCons46way_placental_rankscore dbNSFP_phastCons46way_primate dbNSFP_phastCons46way_primate_rankscore dbNSFP_phyloP100way_vertebrate dbNSFP_phyloP100way_vertebrate_rankscore dbNSFP_phyloP46way_placental dbNSFP_phyloP46way_placental_rankscore dbNSFP_phyloP46way_primate dbNSFP_phyloP46way_primate_rankscore dbNSFP_refcodon entrez_gene_id external_id_capture gencode_transcript_name gencode_transcript_status gencode_transcript_tags gencode_transcript_type gene_type havana_transcript hgsc igv_bad ucsc t_alt_count t_ref_count n_alt_count n_ref_count validation_judgement_rna validation_power_rna validation_tumor_alt_count_rna validation_tumor_ref_count_rna validation_normal_alt_count_rna validation_normal_ref_count_rna min_val_count_rna validation_judgement_targeted validation_power_targeted validation_tumor_alt_count_targeted validation_tumor_ref_count_targeted validation_normal_alt_count_targeted validation_normal_ref_count_targeted min_val_count_targeted validation_judgement_localAssembly validation_power_localAssembly t_alt_count_localAssembly t_ref_count_localAssembly n_alt_count_localAssembly n_ref_count_localAssembly min_val_count_localAssembly validation_judgement_KRAS validation_power_KRAS t_alt_count_KRAS t_ref_count_KRAS n_alt_count_KRAS n_ref_count_KRAS min_val_count_KRAS pon_loglike pon_pass_loglike localAssembly_detected ExAC_AN ExAC_AC ExAC_LQ passExAC SCNA_NA SCNA_NB SCNA_q_hat SCNA_tau IS_SCNA purity ploidy dna_fraction_in_tumor CCF_hat CCF_CI95_low CCF_CI95_high CCF_mode CCF_mean CCF_median clonal CCF_CI_low CCF_CI_high SAP130 79595 broad.mit.edu 37 2 128712656 128712656 + Frame_Shift_Del DEL C C - rs112429524 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:128712656delC ENST00000259235.3 - 15 2428 c.2299delG c.(2299-2301)gtgfs p.V767fs SAP130_ENST00000357702.5_Frame_Shift_Del_p.V802fs|SAP130_ENST00000259234.6_Frame_Shift_Del_p.V775fs NM_024545.3 NP_078821.2 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 45 Colorectal(110;0.1) CTGCCACCCACAGTGACTGAT 0.532000 0 SO:0001589 frameshift_variant ENST00000259235.3 0 1 hg19 CCDS2153.1 TCGA-H6-A45N-01A-11D-A26I-08 SAP130-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000254436.3 1 0 0 38 487 0 64 0 4.638714e-01 0 21 0 64 2 0 0 0 0 0 0 1 1.000000 40 479 0 63 2 0 0 0 0 0 0 -20.000000 1 1 0 0 1 1 2 3 2.048955 0 0.110000 2.030000 0.126337 0.990000 0.980000 1.000000 1.000000 0.998180 0.990000 1 0.990000 1.000000 NBEAL1 65065 broad.mit.edu 37 2 204000806 204000807 + Frame_Shift_Ins INS - - TG TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:204000806_204000807insTG ENST00000449802.1 + 27 4466_4467 c.4133_4134insTG c.(4132-4137)attgacfs p.D1379fs NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 37 CTCAGTGGAATTGACTCATGTG 0.436000 0 SO:0001589 frameshift_variant ENST00000449802.1 0 1 hg19 CCDS46495.1 TCGA-H6-A45N-01A-11D-A26I-08 NBEAL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000333982.4 1 0 0 24 395 0 30 0 0 0 1 0 30 2 0 0 0 0 0 0 1 1.000000 25 395 0 30 2 0 0 0 0 0 0 -20.000000 1 1 0 0 1 1 2 3 2.046620 0 0.110000 2.030000 0.125866 0.990000 0.720000 1.000000 1.000000 0.963028 0.990000 1 0.890000 1.000000 EBF3 253738 broad.mit.edu 37 10 131665458 131665458 + Missense_Mutation SNP G G C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr10:131665458G>C ENST00000355311.5 - 10 1058 c.986C>G c.(985-987)tCc>tGc p.S329C EBF3_ENST00000368648.3_Missense_Mutation_p.S320C Q9H4W6 COE3_HUMAN early B-cell factor 3 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) GGATTTGTAGGAGAGGGTCAC 0.577000 0 SO:0001583 missense ENST00000355311.5 0 1 hg19 . . . . . . . . . . G 23.8 4.459324 0.84317 . . ENSG00000108001 ENST00000355311;ENST00000368648 T;T 0.46451 0.87;0.87 4.88 4.88 0.63580 . 0.000000 0.85682 D 0.000000 T 0.61887 0.2383 L 0.60455 1.87 0.80722 D 1 D 0.71674 0.998 D 0.68483 0.958 T 0.64989 -0.6277 10 0.87932 D 0 -19.8393 18.9221 0.92529 0.0:0.0:1.0:0.0 . 320 Q9H4W6-2 . C 329;320 ENSP00000347463:S329C;ENSP00000357637:S320C ENSP00000347463:S329C S - 2 0 EBF3 131555448 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 9.716000 0.98752 2.632000 0.89209 0.655000 0.94253 TCC TCGA-H6-A45N-01A-11D-A26I-08 EBF3-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000051015.2 0 0 0 6 228 0 37 0 0 0 1 0 37 2 0 0 0 0 0 2 1 0.965084 6 227 0 37 2 0 0 0 0 37 2 -7.391680 1 0 0 0 1 0 1 1 1.988170 0 0.110000 2.030000 0.103094 0.480000 0.200000 0.910000 0.450000 0.513621 0.480000 0 0.320000 0.690000 GAD2 2572 broad.mit.edu 37 10 26575376 26575376 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr10:26575376G>A ENST00000376261.3 + 13 1842 c.1339G>A c.(1339-1341)Gga>Aga p.G447R GAD2_ENST00000259271.3_Missense_Mutation_p.G447R NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) p.G447R(2) 48 CTTACAGTGCGGACGCCACGT 0.433000 2 Substitution - Missense(2) SO:0001583 missense ENST00000376261.3 1 1 hg19 CCDS7149.1 . . . . . . . . . . G 26.1 4.704299 0.88924 0.0 1.16E-4 ENSG00000136750 ENST00000376261;ENST00000259271 T;T 0.48201 0.82;0.82 4.98 4.98 0.66077 Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1); 0.000000 0.85682 D 0.000000 T 0.80706 0.4674 H 0.97415 4 0.80722 D 1 D 0.89917 1.0 D 0.85130 0.997 D 0.88340 0.2974 10 0.87932 D 0 -14.4635 18.27 0.90065 0.0:0.0:1.0:0.0 . 447 Q05329 DCE2_HUMAN R 447 ENSP00000365437:G447R;ENSP00000259271:G447R ENSP00000259271:G447R G + 1 0 GAD2 26615382 1.000000 0.71417 0.955000 0.39395 0.790000 0.44656 9.476000 0.97823 2.306000 0.77630 0.655000 0.94253 GGA TCGA-H6-A45N-01A-11D-A26I-08 GAD2-001 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047255.1 0 0 0 16 423 0 46 0 2.856059e-02 0 7 0 46 2 0 0 0 0 0 2 1 0.999932 16 420 0 45 2 0 0 0 0 46 2 -2.448738 0 1 121412 2 36 1 0 1 1 1.981028 0 0.110000 2.030000 0.101101 0.660000 0.390000 1.000000 1.000000 0.677059 0.660000 0 0.510000 0.830000 MAT1A 4143 broad.mit.edu 37 10 82036258 82036258 + Silent SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr10:82036258C>T ENST00000372213.3 - 6 902 c.642G>A c.(640-642)acG>acA p.T214T MAT1A_ENST00000485270.1_5'Flank NM_000429.2 NP_000420.1 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 26 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) TCTCCTCCAGCGTGATGTCTT 0.587000 0 SO:0001819 synonymous_variant ENST00000372213.3 1 1 hg19 CCDS7365.1 TCGA-H6-A45N-01A-11D-A26I-08 MAT1A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049070.1 0 0 0 27 715 1 120 0 0 0 1 1 120 2 0 0 0 0 0 2 1 0.874695 26 709 1 120 20 0 0 0 1 120 2 -3.757071 1 1 121412 1 33 1 0 1 1 1.988170 0 0.110000 2.030000 0.103094 0.650000 0.440000 0.910000 0.650000 0.670570 0.650000 0 0.540000 0.790000 TRPC6 7225 broad.mit.edu 37 11 101362330 101362330 + Missense_Mutation SNP T T A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:101362330T>A ENST00000344327.3 - 3 1509 c.1085A>T c.(1084-1086)aAt>aTt p.N362I TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000360497.4_Missense_Mutation_p.N362I|TRPC6_ENST00000532133.1_Missense_Mutation_p.N362I NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) ACGGCTGAGATTTGGGCGACC 0.428000 Colon(166;1315 1927 11094 12848 34731) 0 SO:0001583 missense ENST00000344327.3 1 1 hg19 CCDS8311.1 . . . . . . . . . . T 15.28 2.786962 0.49997 . . ENSG00000137672 ENST00000344327;ENST00000532133;ENST00000360497 T;T;T 0.65549 1.41;1.41;-0.16 6.14 5.02 0.67125 . 0.176574 0.56097 D 0.000023 T 0.62332 0.2419 L 0.50333 1.59 0.35279 D 0.781152 P;P 0.40578 0.677;0.722 P;P 0.50970 0.655;0.534 T 0.72523 -0.4267 10 0.66056 D 0.02 -6.7914 3.5277 0.07765 0.0:0.2969:0.0:0.7031 . 362;362 Q9Y210-3;Q9Y210 .;TRPC6_HUMAN I 362 ENSP00000340913:N362I;ENSP00000435574:N362I;ENSP00000353687:N362I ENSP00000340913:N362I N - 2 0 TRPC6 100867540 1.000000 0.71417 0.968000 0.41197 0.850000 0.48378 2.065000 0.41442 2.367000 0.80283 0.529000 0.55759 AAT TCGA-H6-A45N-01A-11D-A26I-08 TRPC6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394770.1 0 0 0 33 858 0 71 0 0 0 1 0 71 2 0 0 0 0 0 2 1 1.000000 33 845 0 70 2 0 0 0 0 71 2 -20.000000 1 1 0 0 1 0 1 1 1.986533 0 0.110000 2.030000 0.102596 0.660000 0.460000 0.900000 0.660000 0.679530 0.660000 0 0.560000 0.790000 TRPC6 7225 broad.mit.edu 37 11 101362468 101362468 + Splice_Site SNP T T A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:101362468T>A ENST00000344327.3 - 3 1371 c.947A>T c.(946-948)aAt>aTt p.N316I TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000360497.4_Splice_Site_p.N316I|TRPC6_ENST00000532133.1_Splice_Site_p.N316I NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) TTTGTAGTCATTCTAGGAAAA 0.368000 Colon(166;1315 1927 11094 12848 34731) 0 SO:0001630 splice_region_variant ENST00000344327.3 0 1 hg19 CCDS8311.1 . . . . . . . . . . T 22.2 4.263387 0.80358 . . ENSG00000137672 ENST00000344327;ENST00000532133;ENST00000360497 T;T;T 0.61980 0.06;0.06;0.06 6.14 6.14 0.99180 . 0.000000 0.85682 D 0.000000 T 0.79009 0.4374 M 0.73319 2.225 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.999 T 0.80065 -0.1538 10 0.59425 D 0.04 -11.6271 16.806 0.85666 0.0:0.0:0.0:1.0 . 316;316 Q9Y210-3;Q9Y210 .;TRPC6_HUMAN I 316 ENSP00000340913:N316I;ENSP00000435574:N316I;ENSP00000353687:N316I ENSP00000340913:N316I N - 2 0 TRPC6 100867678 1.000000 0.71417 1.000000 0.80357 0.821000 0.46438 7.950000 0.87804 2.367000 0.80283 0.529000 0.55759 AAT TCGA-H6-A45N-01A-11D-A26I-08 TRPC6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394770.1 0 0 0 12 319 0 25 0 0 0 0 25 2 0 0 0 0 0 2 1 0.999110 12 316 0 25 2 0 0 0 0 25 2 -13.050570 1 1 0 0 1 0 1 1 1.986533 0 0.110000 2.030000 0.102596 0.660000 0.360000 1.000000 1.000000 0.679433 0.660000 0 0.490000 0.860000 MMP1 4312 broad.mit.edu 37 11 102668153 102668153 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:102668153C>T ENST00000315274.6 - 2 251 c.184G>A c.(184-186)Gaa>Aaa p.E62K WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) Marimastat(DB00786) TTCAATTTTTCAACCACTGGG 0.433000 0 SO:0001583 missense ENST00000315274.6 1 1 hg19 CCDS8322.1 . . . . . . . . . . C 10.57 1.387343 0.25031 . . ENSG00000196611 ENST00000315274 T 0.38240 1.15 5.77 5.77 0.91146 Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1); 0.186495 0.38058 N 0.001830 T 0.32615 0.0835 L 0.51853 1.615 0.35886 D 0.829282 B 0.19817 0.039 B 0.25140 0.058 T 0.27434 -1.0074 10 0.26408 T 0.33 . 10.6353 0.45560 0.0:0.7973:0.133:0.0696 . 62 P03956 MMP1_HUMAN K 62 ENSP00000322788:E62K ENSP00000322788:E62K E - 1 0 MMP1 102173363 0.566000 0.26618 0.796000 0.32109 0.615000 0.37417 1.787000 0.38704 2.884000 0.98904 0.655000 0.94253 GAA TCGA-H6-A45N-01A-11D-A26I-08 MMP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000109632.1 1 0 1 28 546 0 49 1 9.844187e-01 30 100 0 49 2 0 0 0 0 0 2 1 1.000000 28 540 0 49 2 0 0 0 0 49 2 -5.048920 1 1 0 0 1 0 1 1 1.986533 0 0.110000 2.030000 0.102596 0.870000 0.590000 1.000000 1.000000 0.867533 0.870000 1 0.720000 1.000000 ATL3 25923 broad.mit.edu 37 11 63398868 63398868 + Missense_Mutation SNP G G C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:63398868G>C ENST00000398868.3 - 12 1459 c.1183C>G c.(1183-1185)Ctg>Gtg p.L395V ATL3_ENST00000332645.4_Missense_Mutation_p.L422V|ATL3_ENST00000538786.1_Missense_Mutation_p.L377V NM_015459.3 NP_056274.3 Q6DD88 ATLA3_HUMAN atlastin GTPase 3 11 AAATGGTCCAGAGCAAGTTGT 0.408000 0 SO:0001583 missense ENST00000398868.3 0 1 hg19 CCDS41663.1 . . . . . . . . . . G 7.325 0.617751 0.14129 . . ENSG00000184743 ENST00000398868;ENST00000332645;ENST00000538786 T;T;T 0.01821 4.62;4.62;4.62 5.41 2.14 0.27477 Guanylate-binding protein, C-terminal (3); 0.205916 0.42682 D 0.000665 T 0.01156 0.0038 N 0.16656 0.425 0.44036 D 0.996766 B 0.06786 0.001 B 0.22880 0.042 T 0.54323 -0.8311 10 0.14656 T 0.56 -9.5352 5.3927 0.16253 0.0828:0.1393:0.6348:0.143 . 395 Q6DD88 ATLA3_HUMAN V 395;422;377 ENSP00000381844:L395V;ENSP00000329034:L422V;ENSP00000437593:L377V ENSP00000329034:L422V L - 1 2 ATL3 63155444 0.006000 0.16342 1.000000 0.80357 0.961000 0.63080 0.057000 0.14279 1.273000 0.44346 0.655000 0.94253 CTG TCGA-H6-A45N-01A-11D-A26I-08 ATL3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000396637.1 0 0 0 9 454 0 49 0 9.055777e-02 1 21 0 49 2 0 0 0 0 0 2 1 0.994200 9 452 0 49 2 0 0 0 0 49 2 -3.263015 1 1 0 0 1 0 1 1 1.986533 0 0.110000 2.030000 0.102596 0.360000 0.170000 0.620000 0.350000 0.380468 0.360000 0 0.250000 0.490000 PPFIBP2 8495 broad.mit.edu 37 11 7618802 7618802 + Silent SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr11:7618802C>T ENST00000299492.4 + 5 772 c.384C>T c.(382-384)ctC>ctT p.L128L PPFIBP2_ENST00000533792.1_5'UTR|PPFIBP2_ENST00000528883.1_Silent_p.L16L NM_003621.3 NP_003612 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 32 TGAGTGTCCTCACAGACCAAG 0.512000 0 SO:0001819 synonymous_variant ENST00000299492.4 0 1 hg19 CCDS31419.1 . . . . . . . . . . C 10.29 1.310160 0.23821 . . ENSG00000166387 ENST00000524548 . . . 5.5 2.39 0.29439 . . . . . T 0.52451 0.1735 . . . 0.80722 D 1 . . . . . . T 0.47341 -0.9125 4 . . . -6.6607 5.1479 0.14994 0.1414:0.6167:0.1553:0.0866 . . . . L 83 . . S + 2 0 PPFIBP2 7575378 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 1.352000 0.34033 1.309000 0.44985 0.655000 0.94253 TCA TCGA-H6-A45N-01A-11D-A26I-08 PPFIBP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000385345.2 0 0 0 5 128 0 29 0 8.930749e-02 0 11 0 29 2 0 0 0 0 0 2 1 0.937519 5 127 0 29 2 0 0 0 0 29 2 -7.863672 1 1 0 0 1 0 1 1 1.988690 0 0.110000 2.030000 0.103094 0.700000 0.270000 1.000000 1.000000 0.710139 0.700000 0 0.450000 1.000000 OASL 8638 broad.mit.edu 37 12 121471375 121471375 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr12:121471375C>T ENST00000257570.5 - 2 640 c.370G>A c.(370-372)Gag>Aag p.E124K OASL_ENST00000339275.5_Missense_Mutation_p.E124K NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CTCAGGTCCTCGAGCCCGAGG 0.577000 Colon(192;517 2041 31392 31913 39966) 0 SO:0001583 missense ENST00000257570.5 0 1 hg19 CCDS9211.1 . . . . . . . . . . C 10.48 1.362354 0.24684 . . ENSG00000135114 ENST00000257570;ENST00000339275 T;T 0.10192 2.9;2.9 4.67 -3.47 0.04753 . . . . . T 0.08714 0.0216 M 0.64404 1.975 0.09310 N 1 B;B 0.24768 0.108;0.111 B;B 0.17433 0.018;0.008 T 0.44236 -0.9341 9 0.12103 T 0.63 0.0893 5.8603 0.18743 0.0:0.1968:0.4434:0.3599 . 124;124 Q15646-2;Q15646 .;OASL_HUMAN K 124 ENSP00000257570:E124K;ENSP00000341125:E124K ENSP00000257570:E124K E - 1 0 OASL 119955758 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -2.620000 0.00879 -0.768000 0.04626 -0.291000 0.09656 GAG TCGA-H6-A45N-01A-11D-A26I-08 OASL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337875.2 0 0 0 10 590 0 94 0 1.191242e-01 0 32 0 94 2 0 0 0 0 0 2 1 0.996867 10 588 0 94 2 0 0 0 0 94 2 -2.215800 0 1 121412 1 33 1 1 2 3 2.004033 0 0.110000 2.030000 0.116801 0.330000 0.160000 1.000000 0.300000 0.405282 0.330000 0 0.230000 0.500000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 C A C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr12:25398284C>A ENST00000256078.4 - 2 98 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis pancreatic, colorectal, lung, thyroid, AML, others Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 15813 Substitution - Missense(15812)|Deletion - Frameshift(1) SO:0001583 missense Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS ENST00000256078.4 0 1 hg19 CCDS8703.1 . . . . . . . . . . C 27.2 4.808637 0.90707 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78707 -1.2;-1.2;-1.2;-1.2 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.90373 0.6987 M 0.90650 3.135 0.80722 D 1 D;D 0.76494 0.997;0.999 D;D 0.72625 0.969;0.978 D 0.91773 0.5429 10 0.72032 D 0.01 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN V 12 ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V ENSP00000256078:G12V G - 2 0 KRAS 25289551 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.743000 0.85020 2.668000 0.90789 0.563000 0.77884 GGT TCGA-H6-A45N-01A-11D-A26I-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 0 5 92 0 10 0 6.845045e-02 0 7 0 10 2 1 9.999694e-01 36 601 0 380 2 1 0.939226 5 92 0 10 2 1 1 998 7014 0 10 2 -4.444013 1 1 0 0 1 1 2 3 2.004033 0 0.110000 2.030000 0.116801 0.990000 0.390000 1.000000 1.000000 0.871696 0.990000 1 0.650000 1.000000 VAC14 55697 broad.mit.edu 37 16 70814758 70814758 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr16:70814758G>A ENST00000261776.5 - 9 1291 c.1031C>T c.(1030-1032)cCt>cTt p.P344L NM_018052.3 NP_060522.3 Q08AM6 VAC14_HUMAN Vac14 homolog (S. cerevisiae) 33 Ovarian(137;0.0699) CCTCTGCCCAGGTCTCAGCTC 0.612000 0 SO:0001583 missense ENST00000261776.5 1 1 hg19 CCDS10896.1 . . . . . . . . . . G 13.38 2.218622 0.39201 . . ENSG00000103043 ENST00000261776 . . . 5.69 4.74 0.60224 Armadillo-type fold (1); 0.540041 0.19458 N 0.113776 T 0.41003 0.1140 L 0.40543 1.245 0.31982 N 0.605736 B 0.09022 0.002 B 0.06405 0.002 T 0.44390 -0.9331 9 0.24483 T 0.36 -0.7265 9.2593 0.37603 0.0739:0.0:0.7822:0.1439 . 344 Q08AM6 VAC14_HUMAN L 344 . ENSP00000261776:P344L P - 2 0 VAC14 69372259 0.968000 0.33430 0.008000 0.14137 0.008000 0.06430 1.662000 0.37418 1.414000 0.47017 0.561000 0.74099 CCT TCGA-H6-A45N-01A-11D-A26I-08 VAC14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000268973.3 1 0 1 17 182 0 26 1 8.769981e-01 6 36 0 26 2 0 0 0 0 0 2 1 0.999970 16 181 0 25 2 0 0 0 0 26 2 -19.999460 1 1 0 0 1 1 2 3 2.047018 0 0.110000 2.030000 0.126337 0.990000 0.990000 1.000000 1.000000 0.997523 0.990000 1 0.990000 1.000000 CACNG5 27091 broad.mit.edu 37 17 64881142 64881142 + Missense_Mutation SNP A A G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr17:64881142A>G ENST00000533854.1 + 6 850 c.613A>G c.(613-615)Acc>Gcc p.T205A CACNG5_ENST00000307139.3_Missense_Mutation_p.T205A Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) GAAGCGGTACACCGCGGAGGA 0.607000 0 SO:0001583 missense ENST00000533854.1 0 1 hg19 CCDS11665.1 . . . . . . . . . . A 3.029 -0.200130 0.06219 . . ENSG00000075429 ENST00000533854;ENST00000307139 T;T 0.42900 0.96;0.96 3.42 3.42 0.39159 . . . . . T 0.14743 0.0356 N 0.02916 -0.46 0.80722 D 1 B 0.02656 0.0 B 0.04013 0.001 T 0.13602 -1.0503 9 0.06099 T 0.92 . 7.1109 0.25390 0.8954:0.0:0.1046:0.0 . 205 Q9UF02 CCG5_HUMAN A 205 ENSP00000436836:T205A;ENSP00000303092:T205A ENSP00000303092:T205A T + 1 0 CACNG5 62311604 1.000000 0.71417 0.999000 0.59377 0.947000 0.59692 4.519000 0.60517 1.815000 0.52974 0.491000 0.48974 ACC TCGA-H6-A45N-01A-11D-A26I-08 CACNG5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389882.1 0 0 0 7 325 0 51 0 0 0 0 51 2 0 0 0 0 0 2 1 0.980039 7 321 0 49 2 0 0 0 0 51 2 -7.685066 1 0 0 0 1 0 0 0 1.925154 0 0.110000 2.030000 0.071175 0.370000 0.160000 0.690000 0.360000 0.400896 0.370000 0 0.250000 0.530000 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G C rs28934574 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 G C G G Valid Somatic Phase_I WXS targeted Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr17:7577094G>C ENST00000269305.4 - 8 1033 c.844C>G c.(844-846)Cgg>Ggg p.R282G TP53_ENST00000445888.2_Missense_Mutation_p.R282G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R282G|TP53_ENST00000420246.2_Missense_Mutation_p.R282G|TP53_ENST00000359597.4_Missense_Mutation_p.R282G|TP53_ENST00000413465.2_Intron NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) TCTGTGCGCCGGTCTCTCCCA 0.557000 111 Mis, N, F breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) Pancreas(47;798 1329 9957 10801) yes Rec yes Li-Fraumeni syndrome 17 17p13 7157 tumor protein p53 L, E, M, O 463 Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1) GRCh37 CM056413|CM920678 TP53 M rs28934574 SO:0001583 missense Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 1 1 hg19 CCDS11118.1 . . . . . . . . . . G 19.01 3.743784 0.69418 . . ENSG00000141510 ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690 D;D;D;D;D;D 0.99867 -7.31;-7.31;-7.31;-7.31;-7.31;-7.31 4.75 1.49 0.22878 p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1); 0.000000 0.85682 D 0.000000 D 0.99822 0.9921 M 0.89968 3.075 0.58432 D 0.999997 P;D;P;P 0.89917 0.826;1.0;0.856;0.483 P;D;P;P 0.79108 0.751;0.992;0.839;0.591 D 0.98579 1.0649 10 0.87932 D 0 -12.0909 8.7508 0.34613 0.0:0.1376:0.5833:0.2792 . 282;282;282;282 P04637-2;P04637-3;P04637;Q1MSW8 .;.;P53_HUMAN;. G 282;282;282;282;282;271;150 ENSP00000352610:R282G;ENSP00000269305:R282G;ENSP00000398846:R282G;ENSP00000391127:R282G;ENSP00000391478:R282G;ENSP00000425104:R150G ENSP00000269305:R282G R - 1 2 TP53 7517819 1.000000 0.71417 0.327000 0.25402 0.901000 0.52897 4.477000 0.60223 0.174000 0.19809 0.462000 0.41574 CGG TCGA-H6-A45N-01A-11D-A26I-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 1 76 256 0 28 1 9.998870e-01 14 34 0 28 2 1 1 332 1694 0 1173 2 1 1.000000 75 254 0 28 2 0 0 0 0 28 2 -4.067568 1 1 0 0 1 0 4 4 2.186706 1 0.110000 2.030000 0.198198 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 PRKACA 5566 broad.mit.edu 37 19 14208284 14208284 + Silent SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:14208284C>T ENST00000308677.4 - 8 850 c.654G>A c.(652-654)aaG>aaA p.K218K PRKACA_ENST00000589994.1_Silent_p.K210K|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron NM_002730.3 NP_002721.1 P17612 KAPCA_HUMAN protein kinase, cAMP-dependent, catalytic, alpha 16 AGTCCACGGCCTTGTTGTAGC 0.637000 0 SO:0001819 synonymous_variant ENST00000308677.4 1 1 hg19 CCDS12304.1 TCGA-H6-A45N-01A-11D-A26I-08 PRKACA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000459004.1 1 0 0 22 323 0 72 1 9.610794e-01 10 71 0 72 2 0 0 0 0 0 2 1 0.999999 21 321 0 72 2 0 0 0 0 72 2 -20.000000 1 1 0 0 1 0 1 1 1.984457 0 0.110000 2.030000 0.102098 0.990000 0.740000 1.000000 1.000000 0.970321 0.990000 1 0.920000 1.000000 BCKDHA 593 broad.mit.edu 37 19 41928149 41928149 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:41928149G>A ENST00000269980.2 + 6 1095 c.727G>A c.(727-729)Gag>Aag p.E243K BCKDHA_ENST00000457836.2_Missense_Mutation_p.E221K|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.E277K|BCKDHA_ENST00000595085.1_Missense_Mutation_p.E277K|BCKDHA_ENST00000535632.1_3'UTR NM_000709.3|NM_001164783.1 NP_000700.1|NP_001158255.1 P12694 ODBA_HUMAN branched chain keto acid dehydrogenase E1, alpha polypeptide 10 GGCAGCCAGTGAGGGGGACGC 0.642000 0 SO:0001583 missense ENST00000269980.2 0 1 hg19 CCDS12581.1 . . . . . . . . . . G 36 5.651384 0.96714 . . ENSG00000255730;ENSG00000248098;ENSG00000248098;ENSG00000248098;ENSG00000248098 ENST00000540732;ENST00000269980;ENST00000542943;ENST00000457836;ENST00000378196 D;D;D;D 0.96300 -3.97;-3.97;-3.97;-3.97 4.71 4.71 0.59529 Dehydrogenase, E1 component (1); 0.104998 0.64402 D 0.000006 D 0.98115 0.9378 M 0.84585 2.705 0.80722 D 1 D;D;D;D 0.89917 0.999;0.99;0.999;1.0 D;P;D;D 0.74674 0.984;0.893;0.981;0.967 D 0.99066 1.0832 10 0.87932 D 0 -44.8836 16.5958 0.84796 0.0:0.0:1.0:0.0 . 221;243;243;277 B4DP47;Q59EI3;P12694;F5H5P2 .;.;ODBA_HUMAN;. K 277;243;214;221;243 ENSP00000443246:E277K;ENSP00000269980:E243K;ENSP00000440345:E214K;ENSP00000416000:E221K ENSP00000269980:E243K E + 1 0 BCKDHA;CTC-435M10.3 46619989 1.000000 0.71417 0.992000 0.48379 0.746000 0.42486 8.783000 0.91813 2.450000 0.82876 0.655000 0.94253 GAG TCGA-H6-A45N-01A-11D-A26I-08 BCKDHA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000398313.3 0 0 0 8 434 0 62 0 4.058640e-01 0 70 0 62 2 0 0 0 0 0 2 1 0.988798 8 427 0 61 2 0 0 0 0 62 2 -4.394039 1 0 0 0 1 1 2 3 2.070874 0 0.110000 2.030000 0.131029 0.400000 0.170000 1.000000 0.340000 0.521864 0.400000 0 0.260000 1.000000 ZNF224 7767 broad.mit.edu 37 19 44612263 44612263 + Missense_Mutation SNP G G C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:44612263G>C ENST00000336976.6 + 6 2204 c.1950G>C c.(1948-1950)aaG>aaC p.K650N AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 19 Prostate(69;0.0435) GTGTAGAAAAGCCATACAAAT 0.448000 0 SO:0001583 missense ENST00000336976.6 1 1 hg19 CCDS33046.1 . . . . . . . . . . g 12.05 1.822267 0.32237 . . ENSG00000186019 ENST00000336976 T 0.64085 -0.08 3.08 -3.07 0.05363 Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.62648 0.2445 L 0.46614 1.455 0.23851 N 0.996665 D 0.76494 0.999 P 0.60173 0.87 T 0.55560 -0.8122 9 0.72032 D 0.01 . 4.7512 0.13061 0.3991:0.0:0.454:0.147 . 650 Q9NZL3 ZN224_HUMAN N 650 ENSP00000337368:K650N ENSP00000337368:K650N K + 3 2 ZNF224 49304103 0.000000 0.05858 0.006000 0.13384 0.167000 0.22549 -2.564000 0.00918 -0.239000 0.09710 0.491000 0.48974 AAG TCGA-H6-A45N-01A-11D-A26I-08 ZNF224-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000460477.1 0 0 0 21 589 0 86 0 2.404526e-01 0 26 0 86 2 0 0 0 0 0 2 1 0.999997 21 582 0 85 2 0 0 0 0 86 2 -3.731157 1 1 0 0 1 1 2 3 2.078682 0 0.110000 2.030000 0.132892 0.700000 0.420000 1.000000 0.640000 0.744377 0.700000 0 0.540000 1.000000 PPP1R12C 54776 broad.mit.edu 37 19 55607482 55607482 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:55607482G>A ENST00000263433.3 - 8 1105 c.1090C>T c.(1090-1092)Cgg>Tgg p.R364W PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R290W|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R364W NM_001271618.1|NM_017607.2 NP_001258547.1|NP_060077.1 protein phosphatase 1, regulatory subunit 12C 22 BRCA - Breast invasive adenocarcinoma(297;0.209) CCACCAGGCCGGCGCTCCTTG 0.652000 0 SO:0001583 missense ENST00000263433.3 1 1 hg19 CCDS12916.1 . . . . . . . . . . G 17.82 3.482775 0.63962 . . ENSG00000125503 ENST00000263433;ENST00000376393;ENST00000435544 T;T;T 0.69306 -0.2;-0.22;-0.39 4.59 2.28 0.28536 . 0.915533 0.09111 N 0.847095 T 0.54822 0.1882 L 0.50333 1.59 0.32809 D 0.501195 B;B;B 0.33549 0.293;0.417;0.293 B;B;B 0.23716 0.012;0.048;0.021 T 0.59215 -0.7496 10 0.66056 D 0.02 . 5.3627 0.16098 0.0964:0.0:0.5419:0.3618 . 290;364;364 B4DME2;Q9BZL4-3;Q9BZL4 .;.;PP12C_HUMAN W 364;364;290 ENSP00000263433:R364W;ENSP00000365573:R364W;ENSP00000387833:R290W ENSP00000263433:R364W R - 1 2 PPP1R12C 60299294 1.000000 0.71417 0.975000 0.42487 0.855000 0.48748 0.985000 0.29578 0.401000 0.25424 0.655000 0.94253 CGG TCGA-H6-A45N-01A-11D-A26I-08 PPP1R12C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000451814.2 1 0 1 74 639 0 93 1 9.994806e-01 18 78 0 93 2 0 0 0 0 0 2 1 1.000000 74 626 0 93 2 0 0 0 0 93 2 -3.221883 1 1 121392 1 26 1 1 2 3 2.078682 0 0.110000 2.030000 0.132892 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 ZBTB45 84878 broad.mit.edu 37 19 59028970 59028970 + Missense_Mutation SNP T T C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:59028970T>C ENST00000594051.1 - 2 551 c.71A>G c.(70-72)aAt>aGt p.N24S ZBTB45_ENST00000600990.1_Missense_Mutation_p.N24S|ZBTB45_ENST00000354590.3_Missense_Mutation_p.N24S Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) CCTCTGCCCATTGAGGGTCTC 0.612000 OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NSCLC(164;1383 2017 5233 27540 46677) 0 SO:0001583 missense ENST00000594051.1 1 1 hg19 CCDS12984.1 . . . . . . . . . . t 17.95 3.514926 0.64634 . . ENSG00000119574 ENST00000354590 T 0.69806 -0.43 3.91 3.91 0.45181 BTB/POZ (1);BTB/POZ fold (2); 0.162750 0.39407 U 0.001372 T 0.76758 0.4032 M 0.70595 2.14 0.30376 N 0.782376 D 0.65815 0.995 P 0.62382 0.901 T 0.76691 -0.2866 10 0.87932 D 0 . 10.9818 0.47499 0.0:0.0:0.0:1.0 . 24 Q96K62 ZBT45_HUMAN S 24 ENSP00000346603:N24S ENSP00000346603:N24S N - 2 0 ZBTB45 63720782 1.000000 0.71417 0.953000 0.39169 0.750000 0.42670 4.312000 0.59154 1.557000 0.49525 0.254000 0.18369 AAT TCGA-H6-A45N-01A-11D-A26I-08 ZBTB45-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000467067.1 1 0 0 30 299 0 57 1 5.902484e-01 7 14 0 57 2 0 0 0 0 0 2 1 1.000000 30 294 0 56 2 0 0 0 0 57 2 -20.000000 1 1 121410 1 29 1 1 2 3 2.078682 0 0.110000 2.030000 0.132892 0.990000 0.990000 1.000000 1.000000 0.999884 0.990000 1 0.990000 1.000000 RANBP3 8498 broad.mit.edu 37 19 5931417 5931417 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr19:5931417C>T ENST00000340578.6 - 8 748 c.691G>A c.(691-693)Gag>Aag p.E231K RANBP3_ENST00000034275.8_Missense_Mutation_p.E163K|RANBP3_ENST00000439268.2_Intron|RANBP3_ENST00000541471.1_Missense_Mutation_p.E103K|RANBP3_ENST00000591124.1_5'Flank|RANBP3_ENST00000591092.1_Intron NM_003624.2|NM_007320.2|NM_007322.2 NP_003615.2|NP_015559.2|NP_015561.1 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 18 CCACTGACCTCAAGTGCACAC 0.647000 0 SO:0001583 missense ENST00000340578.6 0 1 hg19 CCDS42478.1 . . . . . . . . . . C 4.162 0.028634 0.08054 . . ENSG00000031823 ENST00000340578;ENST00000034275;ENST00000324807;ENST00000541471 T;T;T 0.29655 1.56;2.31;1.57 5.09 5.09 0.68999 . 0.447428 0.23254 N 0.050220 T 0.18923 0.0454 N 0.12182 0.205 0.80722 D 1 P;P;P 0.40534 0.72;0.59;0.598 B;B;B 0.43536 0.423;0.423;0.243 T 0.02705 -1.1121 10 0.02654 T 1 -31.6799 14.2449 0.65981 0.0:1.0:0.0:0.0 . 103;163;231 F5H4C2;Q9H6Z4-3;Q9H6Z4 .;.;RANB3_HUMAN K 231;163;162;103 ENSP00000341483:E231K;ENSP00000034275:E163K;ENSP00000445071:E103K ENSP00000034275:E163K E - 1 0 RANBP3 5882417 0.973000 0.33851 0.966000 0.40874 0.055000 0.15305 3.054000 0.49908 2.820000 0.97059 0.650000 0.86243 GAG TCGA-H6-A45N-01A-11D-A26I-08 RANBP3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000452304.1 0 0 0 8 222 0 43 1 3.356616e-01 4 27 0 43 2 0 0 0 0 0 2 1 0.989548 8 221 0 42 2 0 0 0 0 43 2 -9.685932 1 1 0 0 1 0 1 1 1.984457 0 0.110000 2.030000 0.102098 0.640000 0.300000 1.000000 1.000000 0.662054 0.640000 0 0.450000 0.880000 RPRD2 23248 broad.mit.edu 37 1 150444672 150444672 + Missense_Mutation SNP C C G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:150444672C>G ENST00000369068.4 + 11 3252 c.3248C>G c.(3247-3249)gCc>gGc p.A1083G RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.A1057G NM_015203.3 NP_056018.2 Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 37 GAAAAGGGGGCCCCTATAGAA 0.532000 0 SO:0001583 missense ENST00000369068.4 1 1 hg19 CCDS44216.1 . . . . . . . . . . C 15.96 2.987202 0.53934 . . ENSG00000163125 ENST00000401000;ENST00000369068 T;T 0.56275 0.47;0.48 5.03 4.11 0.48088 . 0.071687 0.56097 D 0.000029 T 0.38134 0.1029 N 0.24115 0.695 0.80722 D 1 D;D 0.60575 0.98;0.988 P;P 0.53224 0.53;0.721 T 0.45818 -0.9235 10 0.87932 D 0 -10.3322 12.9366 0.58319 0.0:0.9213:0.0:0.0787 . 1083;1057 Q5VT52;Q5VT52-3 RPRD2_HUMAN;. G 1057;1083 ENSP00000383785:A1057G;ENSP00000358064:A1083G ENSP00000358064:A1083G A + 2 0 RPRD2 148711296 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 5.014000 0.64029 1.328000 0.45358 0.655000 0.94253 GCC TCGA-H6-A45N-01A-11D-A26I-08 RPRD2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000035844.1 1 0 0 33 365 0 58 0 6.310998e-01 1 24 0 58 2 0 0 0 0 0 2 1 1.000000 33 361 0 56 2 0 0 0 0 58 2 -20.000000 1 1 0 0 1 1 2 3 2.091038 0 0.110000 2.030000 0.135209 0.990000 0.990000 1.000000 1.000000 0.999684 0.990000 1 0.990000 1.000000 CD5L 922 broad.mit.edu 37 1 157805907 157805907 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:157805907G>A ENST00000368174.4 - 3 190 c.94C>T c.(94-96)Cgc>Tgc p.R32C CD5L_ENST00000484609.1_5'UTR NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCTTCACAGCGGTGGAGGCCC 0.617000 0 SO:0001583 missense ENST00000368174.4 1 1 hg19 CCDS1171.1 . . . . . . . . . . G 15.40 2.823367 0.50739 . . ENSG00000073754 ENST00000368174 T 0.37058 1.22 4.85 2.81 0.32909 Speract/scavenger receptor (4);Speract/scavenger receptor-related (2); 0.150671 0.31312 N 0.007862 T 0.56396 0.1982 M 0.92219 3.285 0.35417 D 0.792925 D 0.89917 1.0 D 0.72075 0.976 T 0.68096 -0.5499 10 0.62326 D 0.03 . 11.5219 0.50555 0.0:0.0:0.6787:0.3213 . 32 O43866 CD5L_HUMAN C 32 ENSP00000357156:R32C ENSP00000357156:R32C R - 1 0 CD5L 156072531 0.000000 0.05858 0.555000 0.28281 0.326000 0.28443 -0.366000 0.07563 1.198000 0.43158 0.563000 0.77884 CGC TCGA-H6-A45N-01A-11D-A26I-08 CD5L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058346.1 1 0 0 32 732 0 78 0 0 0 0 78 2 0 0 0 0 0 2 1 1.000000 32 715 0 77 2 0 0 0 0 78 2 -3.022063 1 1 0 0 1 1 2 3 2.091038 0 0.110000 2.030000 0.135209 0.840000 0.560000 1.000000 1.000000 0.843546 0.840000 0 0.680000 1.000000 BEND5 79656 broad.mit.edu 37 1 49208355 49208355 + Silent SNP C C T rs143430976 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:49208355C>T ENST00000371833.3 - 4 920 c.834G>A c.(832-834)acG>acA p.T278T AGBL4_ENST00000371838.1_Intron|BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371839.1_Intron NM_024603.2 NP_078879.2 Q7L4P6 BEND5_HUMAN BEN domain containing 5 8 AATAGGACGACGTATTTGCTT 0.478000 0 SO:0001819 synonymous_variant ENST00000371833.3 1 1 hg19 CCDS552.2 TCGA-H6-A45N-01A-11D-A26I-08 BEND5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000022323.1 0 0 0 19 567 0 93 0 5.323251e-02 0 11 0 93 2 0 0 0 0 0 2 1 0.999991 19 566 0 93 2 0 0 0 0 93 2 -3.129055 1 1 121412 3 38 1 0 1 1 1.992166 0 0.110000 2.030000 0.104087 0.580000 0.360000 0.870000 0.580000 0.605051 0.580000 0 0.460000 0.730000 ZCCHC11 23318 broad.mit.edu 37 1 52940826 52940826 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr1:52940826G>A ENST00000371544.3 - 13 2667 c.2405C>T c.(2404-2406)aCc>aTc p.T802I ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T802I|ZCCHC11_ENST00000371541.1_5'UTR NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 58 GCTTTTGCTGGTAGAAAGAGA 0.363000 0 SO:0001583 missense ENST00000371544.3 1 1 hg19 CCDS30716.1 . . . . . . . . . . G 8.144 0.785809 0.16189 . . ENSG00000134744 ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723 T;T;T;T 0.46063 0.89;0.89;0.88;0.88 5.49 4.54 0.55810 . 1.017500 0.07834 N 0.961803 T 0.34716 0.0907 N 0.24115 0.695 0.80722 D 1 B;B 0.13145 0.005;0.007 B;B 0.14023 0.008;0.01 T 0.02437 -1.1159 10 0.33141 T 0.24 . 15.6404 0.76997 0.0:0.0:0.862:0.138 . 561;802 E9PKX1;Q5TAX3 .;TUT4_HUMAN I 802;802;731;561 ENSP00000257177:T802I;ENSP00000360599:T802I;ENSP00000433486:T731I;ENSP00000435256:T561I ENSP00000257177:T802I T - 2 0 ZCCHC11 52713414 0.890000 0.30428 1.000000 0.80357 0.288000 0.27193 3.391000 0.52530 2.570000 0.86706 0.557000 0.71058 ACC TCGA-H6-A45N-01A-11D-A26I-08 ZCCHC11-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000022462.1 1 0 0 39 864 0 75 0 9.696337e-02 0 12 0 75 2 0 0 0 0 0 2 1 1.000000 39 860 0 74 2 0 0 0 0 75 2 -4.880996 1 1 0 0 1 0 1 1 1.992166 0 0.110000 2.030000 0.104087 0.770000 0.560000 1.000000 1.000000 0.787600 0.770000 0 0.660000 0.910000 CEP250 11190 broad.mit.edu 37 20 34090746 34090746 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr20:34090746C>T ENST00000397527.1 + 30 5269 c.4549C>T c.(4549-4551)Cgg>Tgg p.R1517W CEP250_ENST00000342580.4_Missense_Mutation_p.R1461W NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CGAGAAGGATCGGGAGACTCA 0.512000 0 SO:0001583 missense ENST00000397527.1 1 1 hg19 CCDS13255.1 . . . . . . . . . . C 16.05 3.012870 0.54468 . . ENSG00000126001 ENST00000397527;ENST00000342580;ENST00000422671 T;T;T 0.50001 2.74;2.74;0.76 4.63 4.63 0.57726 . 0.701912 0.12939 N 0.426736 T 0.66906 0.2837 M 0.81497 2.545 0.09310 N 1 D 0.71674 0.998 P 0.56916 0.809 T 0.61544 -0.7041 10 0.72032 D 0.01 . 16.2304 0.82332 0.0:1.0:0.0:0.0 . 1517 Q9BV73 CP250_HUMAN W 1517;1461;5 ENSP00000380661:R1517W;ENSP00000341541:R1461W;ENSP00000395992:R5W ENSP00000341541:R1461W R + 1 2 CEP250 33554160 0.001000 0.12720 0.463000 0.27130 0.698000 0.40448 1.499000 0.35671 2.420000 0.82092 0.561000 0.74099 CGG TCGA-H6-A45N-01A-11D-A26I-08 CEP250-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078877.7 0 0 0 14 392 0 72 0 2.751882e-01 0 28 0 72 2 0 0 0 0 0 2 1 0.999734 14 385 0 71 2 0 0 0 0 72 2 -3.182996 1 1 121412 1 29 1 1 2 3 2.025043 0 0.110000 2.030000 0.121118 0.690000 0.370000 1.000000 1.000000 0.718883 0.690000 0 0.510000 1.000000 CDH22 64405 broad.mit.edu 37 20 44856262 44856262 + Silent SNP C C T rs148516074 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr20:44856262C>T ENST00000372262.3 - 3 955 c.555G>A c.(553-555)acG>acA p.T185T CDH22_ENST00000537909.1_Silent_p.T185T NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 44 Myeloproliferative disorder(115;0.0122) GCATCACCGACGTGCCTGGGC 0.682000 0 SO:0001819 synonymous_variant ENST00000372262.3 1 1 hg19 CCDS13395.1 TCGA-H6-A45N-01A-11D-A26I-08 CDH22-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080491.1 1 0 0 8 124 0 25 0 2.678063e-01 0 15 0 25 2 0 0 0 0 0 2 1 0.989099 8 121 0 25 2 0 0 0 0 25 2 -11.890100 1 1 121246 1 29 1 1 2 3 2.025043 0 0.110000 2.030000 0.121118 0.990000 0.560000 1.000000 1.000000 0.940271 0.990000 1 0.830000 1.000000 CASS4 57091 broad.mit.edu 37 20 55033728 55033728 + Silent SNP C C T rs112583744 TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr20:55033728C>T ENST00000360314.3 + 7 2511 c.2286C>T c.(2284-2286)gcC>gcT p.A762A AL121914.1_ENST00000390795.2_RNA|CASS4_ENST00000371336.3_Silent_p.A762A|CASS4_ENST00000434344.1_Silent_p.A325A NM_001164116.1 NP_001157588.1 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 54 CCAGCCCTGCCGCGCTGGGGC 0.637000 0 SO:0001819 synonymous_variant ENST00000360314.3 0 1 hg19 CCDS33492.1 TCGA-H6-A45N-01A-11D-A26I-08 CASS4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079789.2 1 0 0 7 153 0 19 0 1.506310e-02 0 4 0 19 2 0 0 0 0 0 2 1 0.981350 8 152 0 19 2 0 0 0 0 19 2 -10.006480 1 1 121398 10 40 1 1 2 3 2.025043 0 0.110000 2.030000 0.121118 0.900000 0.390000 1.000000 1.000000 0.834200 0.900000 1 0.600000 1.000000 CACNA1I 8911 broad.mit.edu 37 22 40061961 40061961 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr22:40061961G>A ENST00000402142.3 + 23 4054 c.4054G>A c.(4054-4056)Gcc>Acc p.A1352T CACNA1I_ENST00000400164.3_Missense_Mutation_p.A1317T|CACNA1I_ENST00000404898.1_Missense_Mutation_p.A1317T|CACNA1I_ENST00000401624.1_Missense_Mutation_p.A1352T|CACNA1I_ENST00000336649.4_Missense_Mutation_p.A1358T|CACNA1I_ENST00000407673.1_Missense_Mutation_p.A1317T NM_021096.3 NP_066919.2 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 60 Melanoma(58;0.0749) Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909) CTGCATGGCCGCCAACTACCG 0.597000 0 SO:0001583 missense ENST00000402142.3 1 1 hg19 CCDS46710.1 . . . . . . . . . . G 34 5.371351 0.95923 . . ENSG00000100346 ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164 D;D;D;D;D;D 0.98474 -4.95;-4.95;-4.95;-4.95;-4.95;-4.95 4.3 4.3 0.51218 Ion transport (1); 0.000000 0.85682 D 0.000000 D 0.97776 0.9270 N 0.25144 0.715 0.58432 D 0.999998 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.87578 0.998;0.998;0.998;0.997 D 0.99870 1.1095 10 0.72032 D 0.01 . 16.7468 0.85474 0.0:0.0:1.0:0.0 . 1317;1352;1317;1352 Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4 .;.;.;CAC1I_HUMAN T 1352;1317;1352;1317;1358;1317 ENSP00000385019:A1352T;ENSP00000384093:A1317T;ENSP00000383887:A1352T;ENSP00000385680:A1317T;ENSP00000337829:A1358T;ENSP00000383028:A1317T ENSP00000337829:A1358T A + 1 0 CACNA1I 38391907 1.000000 0.71417 0.942000 0.38095 0.990000 0.78478 9.749000 0.98871 1.915000 0.55452 0.462000 0.41574 GCC TCGA-H6-A45N-01A-11D-A26I-08 CACNA1I-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000321290.1 1 0 0 18 370 0 84 0 0 0 0 84 2 0 0 0 0 0 2 1 0.999982 18 368 0 83 2 0 0 0 0 84 2 -2.590710 1 1 121182 1 30 1 0 0 0 1.935226 0 0.110000 2.030000 0.076476 0.800000 0.490000 1.000000 1.000000 0.806166 0.800000 0 0.630000 1.000000 KCNH7 90134 broad.mit.edu 37 2 163302689 163302689 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:163302689C>T ENST00000332142.5 - 7 1492 c.1393G>A c.(1393-1395)Gat>Aat p.D465N KCNH7_ENST00000328032.4_Missense_Mutation_p.D458N NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 108 Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162) ATTAAAATATCTATGATAAAC 0.363000 GBM(196;1492 2208 17507 24132 45496) 0 SO:0001583 missense ENST00000332142.5 1 1 hg19 CCDS2219.1 . . . . . . . . . . C 34 5.297171 0.95574 . . ENSG00000184611 ENST00000332142;ENST00000328032 D;D 0.98120 -4.73;-4.73 5.85 5.85 0.93711 Ion transport (1); 0.000000 0.85682 D 0.000000 D 0.99067 0.9680 M 0.91459 3.21 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 0.997;1.0 D 0.99402 1.0928 10 0.87932 D 0 . 20.1606 0.98132 0.0:1.0:0.0:0.0 . 458;465 Q9NS40-2;Q9NS40 .;KCNH7_HUMAN N 465;458 ENSP00000331727:D465N;ENSP00000333781:D458N ENSP00000333781:D458N D - 1 0 KCNH7 163010935 1.000000 0.71417 1.000000 0.80357 0.982000 0.71751 7.818000 0.86416 2.772000 0.95346 0.650000 0.86243 GAT TCGA-H6-A45N-01A-11D-A26I-08 KCNH7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255093.1 1 0 0 13 320 0 39 0 0 0 0 39 2 0 0 0 0 0 2 1 0.999531 13 317 0 39 2 0 0 0 0 39 2 -13.910770 1 1 0 0 1 1 2 3 2.048955 0 0.110000 2.030000 0.126337 0.800000 0.420000 1.000000 1.000000 0.799446 0.800000 0 0.580000 1.000000 MYL1 4632 broad.mit.edu 37 2 211179819 211179819 + Translation_Start_Site SNP C C A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:211179819C>A ENST00000352451.3 - 0 95 NM_079420.2 NP_524144.1 P05976 MYL1_HUMAN myosin, light chain 1, alkali; skeletal, fast 16 CCAAAAGAACCTGTCAAAATG 0.463000 0 ENST00000352451.3 0 1 hg19 CCDS2390.1 TCGA-H6-A45N-01A-11D-A26I-08 MYL1-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000256566.2 0 0 0 37 986 0 65 0 0 0 0 65 2 0 0 0 0 0 2 1 1.000000 37 973 0 65 2 0 0 0 0 65 2 -2.717127 1 1 0 0 1 1 2 3 2.046620 0 0.110000 2.030000 0.125866 0.700000 0.480000 1.000000 0.670000 0.749400 0.700000 0 0.580000 1.000000 FN1 2335 broad.mit.edu 37 2 216263993 216263993 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:216263993C>T ENST00000359671.1 - 21 3600 c.3335G>A c.(3334-3336)aGa>aAa p.R1112K FN1_ENST00000357867.4_Missense_Mutation_p.R1112K|FN1_ENST00000345488.5_Missense_Mutation_p.R1112K|FN1_ENST00000336916.4_Missense_Mutation_p.R1112K|FN1_ENST00000432072.2_Missense_Mutation_p.R1112K|FN1_ENST00000446046.1_Missense_Mutation_p.R1112K|FN1_ENST00000357009.2_Missense_Mutation_p.R1112K|FN1_ENST00000346544.3_Missense_Mutation_p.R1112K|FN1_ENST00000356005.4_Missense_Mutation_p.R1112K|FN1_ENST00000323926.6_Missense_Mutation_p.R1112K|FN1_ENST00000421182.1_Missense_Mutation_p.R1112K|FN1_ENST00000354785.4_Missense_Mutation_p.R1112K|FN1_ENST00000443816.1_Missense_Mutation_p.R1112K P02751 FINC_HUMAN fibronectin 1 FN1/ALK(2) 109 Renal(323;0.127) Ocriplasmin(DB08888) AAAACCAATTCTTGGAGCAGG 0.493000 0 SO:0001583 missense ENST00000359671.1 0 1 hg19 . . . . . . . . . . C 20.6 4.019242 0.75275 . . ENSG00000115414 ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005 T;T;T;T;T;T;T;T;T;T;T;T;T 0.56776 0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44 5.75 5.75 0.90469 . 0.000000 0.85682 D 0.000000 T 0.64746 0.2626 L 0.37630 1.12 0.50813 D 0.999892 D;B;P;D;D;B;D;P;D;P 0.65815 0.974;0.16;0.542;0.974;0.962;0.289;0.995;0.953;0.974;0.947 D;B;P;D;D;B;D;D;D;D 0.83275 0.977;0.132;0.493;0.977;0.987;0.279;0.996;0.977;0.977;0.977 T 0.56159 -0.8025 10 0.21540 T 0.41 . 19.9598 0.97242 0.0:1.0:0.0:0.0 . 1112;1112;1112;1112;1112;1112;1112;1112;1112;1112 P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15 .;.;.;.;.;.;.;.;.;. K 1112 ENSP00000394423:R1112K;ENSP00000323534:R1112K;ENSP00000338200:R1112K;ENSP00000350534:R1112K;ENSP00000346839:R1112K;ENSP00000352696:R1112K;ENSP00000265312:R1112K;ENSP00000273049:R1112K;ENSP00000349509:R1112K;ENSP00000410422:R1112K;ENSP00000415018:R1112K;ENSP00000399538:R1112K;ENSP00000348285:R1112K ENSP00000265313:R1112K R - 2 0 FN1 215972238 1.000000 0.71417 1.000000 0.80357 0.988000 0.76386 4.928000 0.63447 2.716000 0.92895 0.655000 0.94253 AGA TCGA-H6-A45N-01A-11D-A26I-08 FN1-204 KNOWN basic protein_coding protein_coding 0 0 0 13 502 0 70 1 9.994373e-01 8 492 0 70 2 0 0 0 0 0 2 1 0.999493 13 494 0 70 2 0 0 0 0 70 2 -11.158620 1 1 0 0 1 1 2 3 2.046620 0 0.110000 2.030000 0.125866 0.520000 0.270000 1.000000 0.470000 0.602323 0.520000 0 0.370000 1.000000 PRKAG3 53632 broad.mit.edu 37 2 219694941 219694941 + Missense_Mutation SNP A A T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:219694941A>T ENST00000529249.1 - 4 708 c.393T>A c.(391-393)gaT>gaA p.D131E PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000439262.2_Missense_Mutation_p.D106E|PRKAG3_ENST00000392098.3_Missense_Mutation_p.D131E Q9UGI9 AAKG3_HUMAN protein kinase, AMP-activated, gamma 3 non-catalytic subunit 20 Renal(207;0.0474) Acetylsalicylic acid(DB00945) GCTCCACATCATCTGTGCTGG 0.647000 0 SO:0001583 missense ENST00000529249.1 1 1 hg19 CCDS2424.1 . . . . . . . . . . A 20.5 4.006801 0.74932 . . ENSG00000115592 ENST00000439262;ENST00000529249;ENST00000392098 T;D;T 0.81499 -1.49;-1.5;0.32 5.5 -3.3 0.05003 . 1.207880 0.05931 N 0.635284 T 0.73481 0.3592 L 0.29908 0.895 0.09310 N 1 D;B;B 0.63046 0.992;0.287;0.189 P;B;B 0.51385 0.668;0.143;0.107 T 0.64271 -0.6447 10 0.24483 T 0.36 -9.8613 6.8052 0.23774 0.4716:0.1295:0.3988:0.0 . 131;106;131 B4DUK8;Q9UGI9-2;Q9UGI9 .;.;AAKG3_HUMAN E 106;131;131 ENSP00000397133:D106E;ENSP00000436068:D131E;ENSP00000375947:D131E ENSP00000233944:D131E D - 3 2 PRKAG3 219403185 0.000000 0.05858 0.001000 0.08648 0.088000 0.18126 -0.591000 0.05753 -0.504000 0.06577 0.533000 0.62120 GAT TCGA-H6-A45N-01A-11D-A26I-08 PRKAG3-006 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000385992.1 0 0 0 7 272 0 36 0 0 0 0 36 2 0 0 0 0 0 2 1 0.980973 7 272 0 35 2 0 0 0 0 36 2 -8.884430 1 1 0 0 1 1 2 3 2.046620 0 0.110000 2.030000 0.125866 0.550000 0.220000 1.000000 0.450000 0.616767 0.550000 0 0.350000 1.000000 C2orf71 388939 broad.mit.edu 37 2 29296606 29296606 + Silent SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr2:29296606C>T ENST00000331664.5 - 1 521 c.522G>A c.(520-522)gtG>gtA p.V174V NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 60 CCGGGAAGTCCACTTTGCCTT 0.502000 0 SO:0001819 synonymous_variant ENST00000331664.5 1 1 hg19 CCDS42669.1 TCGA-H6-A45N-01A-11D-A26I-08 C2orf71-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000324924.3 0 0 0 16 498 0 53 0 0 0 0 53 2 0 0 0 0 0 2 1 0.999935 16 498 0 52 2 0 0 0 0 53 2 -3.025233 1 1 0 0 1 1 2 3 2.048955 0 0.110000 2.030000 0.126337 0.630000 0.350000 1.000000 0.570000 0.687827 0.630000 0 0.470000 1.000000 TPRG1 285386 broad.mit.edu 37 3 188933150 188933150 + Nonsense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr3:188933150C>T ENST00000345063.3 + 3 447 c.280C>T c.(280-282)Caa>Taa p.Q94* TPRG1_ENST00000433971.1_Nonsense_Mutation_p.Q94* NM_198485.3 NP_940887.1 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 16 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) AGAGACCATTCAAGGCTTCTG 0.483000 0 SO:0001587 stop_gained ENST00000345063.3 0 1 hg19 CCDS3292.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 27.6|27.6 4.844383|4.844383 0.91197|0.91197 .|. .|. ENSG00000188001|ENSG00000188001 ENST00000433971;ENST00000412373;ENST00000345063;ENST00000456832|ENST00000425670 .|. .|. .|. 5.27|5.27 5.27|5.27 0.74061|0.74061 .|. 0.205984|. 0.52532|. D|. 0.000067|. .|T .|0.65821 .|0.2728 .|. .|. .|. 0.80722|0.80722 A|A 1|1 .|. .|. .|. .|. .|. .|. .|T .|0.69698 .|-0.5075 .|3 0.44086|. T|. 0.13|. -8.88|-8.88 14.7487|14.7487 0.69508|0.69508 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|. .|. .|. X|L 94|21 .|. ENSP00000341031:Q94X|. Q|S +|+ 1|2 0|0 TPRG1|TPRG1 190415844|190415844 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.970000|0.970000 0.65996|0.65996 2.424000|2.424000 0.44714|0.44714 2.640000|2.640000 0.89533|0.89533 0.655000|0.655000 0.94253|0.94253 CAA|TCA TCGA-H6-A45N-01A-11D-A26I-08 TPRG1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000343931.1 0 0 0 10 242 0 32 0 2.667599e-02 0 6 0 32 2 0 0 0 0 0 2 1 0.996924 10 240 0 32 2 0 0 0 0 32 2 -3.234426 1 1 0 0 1 1 2 3 2.027261 0 0.110000 2.030000 0.121595 0.810000 0.390000 1.000000 1.000000 0.794544 0.810000 0 0.570000 1.000000 SPATA5 166378 broad.mit.edu 37 4 123855729 123855729 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr4:123855729C>T ENST00000274008.4 + 5 1052 c.983C>T c.(982-984)tCa>tTa p.S328L SPATA5_ENST00000422835.2_3'UTR NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 24 TTTATTTCTTCAACAACAAGA 0.343000 0 SO:0001583 missense ENST00000274008.4 0 1 hg19 CCDS3730.1 . . . . . . . . . . C 17.93 3.509992 0.64522 . . ENSG00000145375 ENST00000274008 D 0.94613 -3.47 5.19 5.19 0.71726 . 0.280274 0.35903 N 0.002902 D 0.92414 0.7592 L 0.31752 0.955 0.41954 D 0.990675 P;P 0.39376 0.67;0.616 B;B 0.42851 0.4;0.343 D 0.93179 0.6573 10 0.66056 D 0.02 -13.3745 18.9179 0.92513 0.0:1.0:0.0:0.0 . 328;328 Q8NB90;Q8NB90-3 SPAT5_HUMAN;. L 328 ENSP00000274008:S328L ENSP00000274008:S328L S + 2 0 SPATA5 124075179 0.982000 0.34865 1.000000 0.80357 0.990000 0.78478 1.715000 0.37971 2.705000 0.92388 0.655000 0.94253 TCA TCGA-H6-A45N-01A-11D-A26I-08 SPATA5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256714.2 0 0 0 9 294 0 19 0 0 0 1 0 19 2 0 0 0 0 0 2 1 0.994231 9 292 0 19 2 0 0 0 0 19 2 -9.815892 1 1 0 0 1 0 1 1 1.990017 0 0.110000 2.030000 0.103591 0.550000 0.270000 0.940000 0.530000 0.573230 0.550000 0 0.390000 0.740000 TMEM14B 81853 broad.mit.edu 37 6 10755436 10755436 + Silent SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:10755436C>T ENST00000379542.5 + 5 431 c.264C>T c.(262-264)ttC>ttT p.F88F TMEM14B_ENST00000379530.3_Silent_p.F54F|TMEM14B_ENST00000473276.1_Missense_Mutation_p.H29Y|TMEM14B_ENST00000481240.1_Silent_p.F54F|SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000491103.1_3'UTR|RNA5SP203_ENST00000410451.1_RNA|TMEM14B_ENST00000461342.1_Silent_p.F54F|TMEM14B_ENST00000467317.1_Silent_p.F88F|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000475942.1_Silent_p.F88F NM_030969.3 NP_112231.3 Q9NUH8 TM14B_HUMAN transmembrane protein 14B 11 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.135) ATGGAAAATTCATGCCTGTAG 0.368000 0 SO:0001819 synonymous_variant ENST00000379542.5 1 1 hg19 CCDS4515.1 . . . . . . . . . . C 5.731 0.319266 0.10845 . . ENSG00000137210 ENST00000473276 T 0.40225 1.04 3.84 -5.39 0.02664 . . . . . T 0.28200 0.0696 . . . 0.80722 D 1 . . . . . . T 0.47341 -0.9125 5 . . . . 13.8756 0.63651 0.1176:0.7423:0.0:0.1401 . . . . Y 29 ENSP00000420580:H29Y . H + 1 0 TMEM14B 10863422 0.156000 0.22821 0.899000 0.35326 0.435000 0.31806 -0.928000 0.03980 -1.139000 0.02881 -0.367000 0.07326 CAT TCGA-H6-A45N-01A-11D-A26I-08 TMEM14B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000039836.1 0 0 0 21 355 0 33 1 9.876232e-01 12 109 0 33 2 0 0 0 0 0 2 1 0.999997 20 352 0 33 2 0 0 0 0 33 2 -5.415077 1 1 0 0 1 1 2 3 2.053973 0 0.110000 2.030000 0.127280 0.990000 0.680000 1.000000 1.000000 0.954257 0.990000 1 0.870000 1.000000 PSMB1 5689 broad.mit.edu 37 6 170852698 170852698 + Missense_Mutation SNP C C G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 C G C C Valid Somatic Phase_I WXS RNA Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:170852698C>G ENST00000262193.6 - 4 522 c.424G>C c.(424-426)Gat>Cat p.D142H PSMB1_ENST00000462957.1_5'UTR NM_002793.3 NP_002784.1 P20618 PSB1_HUMAN proteasome (prosome, macropain) subunit, beta type, 1 5 Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246) Bortezomib(DB00188)|Carfilzomib(DB08889) CCTTCTTCATCAAGTCCACCG 0.423000 0 SO:0001583 missense ENST00000262193.6 1 1 hg19 CCDS34577.1 . . . . . . . . . . C 24.7 4.559079 0.86335 . . ENSG00000008018 ENST00000262193;ENST00000392093 T 0.59502 0.26 4.93 4.93 0.64822 . 0.000000 0.85682 D 0.000000 T 0.80534 0.4641 M 0.93720 3.45 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.86008 0.1499 10 0.87932 D 0 -25.2937 18.5453 0.91044 0.0:1.0:0.0:0.0 . 142 P20618 PSB1_HUMAN H 142;147 ENSP00000262193:D142H ENSP00000262193:D142H D - 1 0 PSMB1 170694623 1.000000 0.71417 0.944000 0.38274 0.995000 0.86356 6.990000 0.76225 2.451000 0.82905 0.650000 0.86243 GAT TCGA-H6-A45N-01A-11D-A26I-08 PSMB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000043278.2 0 0 1 16 442 0 53 1 9.991468e-01 36 287 0 53 2 0 0 0 0 0 2 1 0.999927 17 434 0 52 2 0 0 0 0 53 2 -3.295371 1 1 0 0 1 0 0 0 1.899093 1 0.110000 2.030000 0.058201 0.590000 0.350000 0.880000 0.580000 0.608571 0.590000 0 0.460000 0.750000 NRN1 51299 broad.mit.edu 37 6 6002623 6002623 + Missense_Mutation SNP C C G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:6002623C>G ENST00000244766.2 - 2 380 c.163G>C c.(163-165)Ggc>Cgc p.G55R NRN1_ENST00000495850.1_5'UTR NM_001278710.1|NM_016588.2 NP_001265639.1|NP_057672.1 Q9NPD7 NRN1_HUMAN neuritin 1 8 Ovarian(93;0.0816) all_hematologic(90;0.151) TCGTCCAGGCCCTGCGGGTAG 0.612000 0 SO:0001583 missense ENST00000244766.2 1 1 hg19 CCDS4495.1 . . . . . . . . . . C 17.28 3.348508 0.61183 . . ENSG00000124785 ENST00000244766 . . . 4.24 4.24 0.50183 . 0.313474 0.30285 N 0.009976 T 0.18130 0.0435 N 0.14661 0.345 0.41287 D 0.986956 B 0.32160 0.358 B 0.27608 0.081 T 0.07290 -1.0780 9 0.21014 T 0.42 -12.6147 13.9329 0.64007 0.0:1.0:0.0:0.0 . 55 Q9NPD7 NRN1_HUMAN R 55 . ENSP00000244766:G55R G - 1 0 NRN1 5947622 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 4.796000 0.62496 2.185000 0.69588 0.462000 0.41574 GGC TCGA-H6-A45N-01A-11D-A26I-08 NRN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000039753.1 1 0 0 51 607 0 120 0 1.553176e-01 0 9 0 120 2 0 0 0 0 0 2 1 1.000000 51 602 0 119 2 0 0 0 0 120 2 -3.075755 1 1 0 0 1 1 2 3 2.053973 0 0.110000 2.030000 0.127280 0.990000 0.990000 1.000000 1.000000 0.999799 0.990000 1 0.990000 1.000000 BACH2 60468 broad.mit.edu 37 6 90660239 90660239 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr6:90660239G>A ENST00000257749.4 - 7 2293 c.1586C>T c.(1585-1587)gCg>gTg p.A529V RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.A529V|BACH2_ENST00000343122.3_Missense_Mutation_p.A529V NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) CCCGTCCTCCGCGTAGGAATA 0.622000 0 SO:0001583 missense ENST00000257749.4 1 1 hg19 CCDS5026.1 . . . . . . . . . . G 22.4 4.288626 0.80914 . . ENSG00000112182 ENST00000257749;ENST00000537989;ENST00000343122 T;T;T 0.45276 0.9;0.9;0.9 5.2 5.2 0.72013 . 0.000000 0.85682 D 0.000000 T 0.43656 0.1257 N 0.19112 0.55 0.58432 D 0.999998 D 0.89917 1.0 D 0.83275 0.996 T 0.51309 -0.8722 10 0.59425 D 0.04 -6.4783 18.7377 0.91761 0.0:0.0:1.0:0.0 . 529 Q9BYV9 BACH2_HUMAN V 529 ENSP00000257749:A529V;ENSP00000437473:A529V;ENSP00000345642:A529V ENSP00000257749:A529V A - 2 0 BACH2 90716960 1.000000 0.71417 0.998000 0.56505 0.866000 0.49608 9.230000 0.95299 2.435000 0.82474 0.460000 0.39030 GCG TCGA-H6-A45N-01A-11D-A26I-08 BACH2-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041522.2 1 0 0 24 468 0 57 0 0 0 1 0 57 2 0 0 0 0 0 2 1 1.000000 23 467 0 57 2 0 0 0 0 57 2 -3.225608 1 1 121412 2 34 1 0 0 0 1.899093 1 0.110000 2.030000 0.058201 0.790000 0.530000 0.980000 0.810000 0.791493 0.790000 0 0.650000 0.920000 MGAM 8972 broad.mit.edu 37 7 141759383 141759383 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr7:141759383C>T ENST00000549489.2 + 32 4026 c.3931C>T c.(3931-3933)Cgg>Tgg p.R1311W MGAM_ENST00000475668.2_Missense_Mutation_p.R1311W NM_004668.2 NP_004659.2 O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGATGGGATGCGGGTCATCCT 0.512000 0 SO:0001583 missense ENST00000549489.2 1 1 hg19 CCDS47727.1 . . . . . . . . . . c 15.79 2.938077 0.52972 . . ENSG00000257335 ENST00000549489;ENST00000475668;ENST00000548812 D 0.93859 -3.3 4.21 0.805 0.18703 Glycoside hydrolase, superfamily (1); . . . . D 0.97300 0.9117 H 0.96430 3.82 0.37421 D 0.913656 D 0.89917 1.0 D 0.87578 0.998 D 0.97840 1.0268 9 0.87932 D 0 . 11.2024 0.48749 0.5799:0.4201:0.0:0.0 . 1311 O43451 MGA_HUMAN W 1311;1311;1188 ENSP00000447378:R1311W ENSP00000316431:R1188W R + 1 2 MGAM 141405852 1.000000 0.71417 1.000000 0.80357 0.841000 0.47740 1.011000 0.29911 0.729000 0.32403 0.194000 0.17425 CGG TCGA-H6-A45N-01A-11D-A26I-08 MGAM-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000351244.3 1 0 0 17 310 0 61 0 0 0 0 61 2 0 0 0 0 0 2 1 0.999956 17 298 0 64 2 0 0 0 0 61 2 -3.008785 1 1 120946 5 40 1 1 2 3 2.013976 0 0.110000 2.030000 0.118725 0.990000 0.590000 1.000000 1.000000 0.914907 0.990000 1 0.770000 1.000000 ANKMY2 57037 broad.mit.edu 37 7 16655415 16655415 + Missense_Mutation SNP C C A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr7:16655415C>A ENST00000306999.2 - 5 728 c.485G>T c.(484-486)gGc>gTc p.G162V NM_020319.2 NP_064715.1 Q8IV38 ANKY2_HUMAN ankyrin repeat and MYND domain containing 2 23 Lung NSC(10;0.103)|all_lung(11;0.204) GTGCAGCGGGCCTGCCAACTT 0.428000 0 SO:0001583 missense ENST00000306999.2 1 1 hg19 CCDS5361.1 . . . . . . . . . . C 18.48 3.633032 0.67015 . . ENSG00000106524 ENST00000306999 T 0.71341 -0.56 5.73 5.73 0.89815 . 0.000000 0.85682 D 0.000000 T 0.68778 0.3038 M 0.65975 2.015 0.80722 D 1 P 0.35745 0.518 B 0.26770 0.073 T 0.69423 -0.5149 10 0.42905 T 0.14 -30.5635 20.2886 0.98538 0.0:1.0:0.0:0.0 . 162 Q8IV38 ANKY2_HUMAN V 162 ENSP00000303570:G162V ENSP00000303570:G162V G - 2 0 ANKMY2 16621940 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 5.670000 0.68088 2.882000 0.98803 0.655000 0.94253 GGC TCGA-H6-A45N-01A-11D-A26I-08 ANKMY2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207600.2 1 0 1 25 256 0 28 1 7.901044e-01 6 26 0 28 2 0 0 0 0 0 2 1 1.000000 25 252 0 28 2 0 0 0 0 28 2 -20.000000 1 1 0 0 1 1 2 3 2.013976 0 0.110000 2.030000 0.118725 0.990000 0.990000 1.000000 1.000000 0.999432 0.990000 1 0.990000 1.000000 GARS 2617 broad.mit.edu 37 7 30662035 30662035 + Missense_Mutation SNP G G A TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr7:30662035G>A ENST00000389266.3 + 12 1811 c.1570G>A c.(1570-1572)Gag>Aag p.E524K NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase 24 Glycine(DB00145) CATTTGTGATGAGTGCTACAT 0.423000 0 SO:0001583 missense ENST00000389266.3 1 1 hg19 CCDS43564.1 . . . . . . . . . . G 17.26 3.343682 0.61073 . . ENSG00000106105 ENST00000389266 D 0.85702 -2.02 5.65 5.65 0.86999 Aminoacyl-tRNA synthetase, class II (1); 0.000000 0.85682 D 0.000000 D 0.84101 0.5398 M 0.68952 2.095 0.80722 D 1 B 0.12013 0.005 B 0.14023 0.01 T 0.78329 -0.2246 10 0.25751 T 0.34 -25.7312 17.5958 0.88011 0.0:0.0:1.0:0.0 . 524 P41250 SYG_HUMAN K 524 ENSP00000373918:E524K ENSP00000373918:E524K E + 1 0 GARS 30628560 1.000000 0.71417 0.993000 0.49108 0.973000 0.67179 6.783000 0.75078 2.836000 0.97738 0.655000 0.94253 GAG TCGA-H6-A45N-01A-11D-A26I-08 GARS-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000327735.1 0 0 0 42 1061 0 113 1 9.510365e-01 10 115 0 113 2 0 0 0 0 0 2 1 1.000000 42 1053 0 113 2 0 0 0 0 113 2 -3.122915 1 1 0 0 1 1 2 3 2.013976 0 0.110000 2.030000 0.118725 0.720000 0.510000 1.000000 0.700000 0.749858 0.720000 0 0.600000 0.930000 DLGAP2 9228 broad.mit.edu 37 8 1626396 1626396 + Missense_Mutation SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr8:1626396C>T ENST00000421627.2 + 9 2199 c.2065C>T c.(2065-2067)Cgt>Tgt p.R689C NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) ACGTTTTAAACGTTCTAACAG 0.557000 0 SO:0001583 missense ENST00000421627.2 0 1 hg19 CCDS47760.1 . . . . . . . . . . C 21.1 4.104697 0.77096 . . ENSG00000198010 ENST00000356067;ENST00000421627 T 0.22336 1.96 4.85 4.85 0.62838 . 0.000000 0.85682 D 0.000000 T 0.51805 0.1696 M 0.82823 2.61 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.87578 0.997;0.998 T 0.60505 -0.7250 10 0.87932 D 0 -4.8866 17.9665 0.89100 0.0:1.0:0.0:0.0 . 754;768 Q9P1A6-2;Q9P1A6 .;DLGP2_HUMAN C 720;689 ENSP00000400258:R689C ENSP00000348366:R720C R + 1 0 DLGAP2 1613803 1.000000 0.71417 0.996000 0.52242 0.511000 0.34104 7.350000 0.79385 2.231000 0.72958 0.557000 0.71058 CGT TCGA-H6-A45N-01A-11D-A26I-08 DLGAP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374478.1 0 0 0 12 383 0 50 0 0 0 0 50 2 0 0 0 0 0 2 1 0.999078 12 378 0 50 2 0 0 0 0 50 2 -11.911440 1 1 121000 1 31 1 1 2 3 2.043533 0 0.110000 2.030000 0.125393 0.630000 0.320000 1.000000 0.550000 0.679162 0.630000 0 0.450000 1.000000 UNC13B 10497 broad.mit.edu 37 9 35236562 35236562 + Missense_Mutation SNP G G C TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chr9:35236562G>C ENST00000378495.3 + 4 471 c.249G>C c.(247-249)aaG>aaC p.K83N UNC13B_ENST00000396787.1_Missense_Mutation_p.K83N|UNC13B_ENST00000378496.4_Missense_Mutation_p.K83N NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) TTGCGCTGAAGACTATTCGTC 0.493000 0 SO:0001583 missense ENST00000378495.3 1 1 hg19 CCDS6579.1 . . . . . . . . . . G 12.30 1.897790 0.33535 . . ENSG00000198722 ENST00000396787;ENST00000378495;ENST00000378496 T;T;T 0.70749 -0.51;-0.51;-0.51 5.21 3.33 0.38152 C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1); 0.256850 0.36893 N 0.002350 T 0.51805 0.1696 N 0.17474 0.49 0.40200 D 0.977502 B;B;B 0.12630 0.0;0.006;0.0 B;B;B 0.15052 0.001;0.012;0.001 T 0.48885 -0.8995 10 0.66056 D 0.02 -6.2976 7.8316 0.29347 0.1517:0.1359:0.7123:0.0 . 83;83;83 Q2NKJ5;F8W8M9;O14795 .;.;UN13B_HUMAN N 83 ENSP00000380006:K83N;ENSP00000367756:K83N;ENSP00000367757:K83N ENSP00000367756:K83N K + 3 2 UNC13B 35226562 1.000000 0.71417 1.000000 0.80357 0.977000 0.68977 0.737000 0.26144 0.741000 0.32674 0.591000 0.81541 AAG TCGA-H6-A45N-01A-11D-A26I-08 UNC13B-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000052296.1 1 0 0 27 652 0 113 0 4.104803e-02 1 7 0 113 2 0 0 0 0 0 2 1 1.000000 27 648 0 111 2 0 0 0 0 113 2 -4.025389 1 1 0 0 1 0 1 1 1.895247 1 0.110000 2.030000 0.058201 0.670000 0.450000 0.920000 0.670000 0.684935 0.670000 0 0.550000 0.800000 SMARCA1 6594 broad.mit.edu 37 X 128599617 128599617 + Silent SNP C C T TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chrX:128599617C>T ENST00000371122.4 - 23 3039 c.2910G>A c.(2908-2910)ttG>ttA p.L970L SMARCA1_ENST00000371121.3_Silent_p.L958L|SMARCA1_ENST00000371123.1_Silent_p.L958L NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 45 ACATACAAATCAAGAATCTAT 0.363000 0 SO:0001819 synonymous_variant ENST00000371122.4 1 1 hg19 CCDS14612.1 TCGA-H6-A45N-01A-11D-A26I-08 SMARCA1-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000058206.1 0 0 0 13 519 0 32 0 3.984842e-01 0 53 0 32 2 0 0 0 0 0 2 1 0.999524 13 516 0 32 2 0 0 0 0 32 2 -3.456428 1 1 0 0 1 0 1 1 0.110000 2.030000 0.110000 0.450000 0.250000 0.720000 0.440000 0.469413 0.450000 0 0.340000 0.590000 GPR112 139378 broad.mit.edu 37 X 135429571 135429571 + Missense_Mutation SNP A A G TCGA-H6-A45N-01A-11D-A26I-08 TCGA-H6-A45N-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac2306c-b188-4c61-ab10-2021a442b995 06e0e8e9-66a1-412f-87ba-3eba5935b6fc g.chrX:135429571A>G ENST00000394143.1 + 6 3997 c.3706A>G c.(3706-3708)Aca>Gca p.T1236A GPR112_ENST00000412101.1_Missense_Mutation_p.T1031A|GPR112_ENST00000370652.1_Missense_Mutation_p.T1236A|GPR112_ENST00000394141.1_Missense_Mutation_p.T1031A|GPR112_ENST00000287534.4_Missense_Mutation_p.T1173A NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 199 Acute lymphoblastic leukemia(192;0.000127) TTCATCTGCCACATATCGTGT 0.473000 0 SO:0001583 missense ENST00000394143.1 1 1 hg19 CCDS35409.1 . . . . . . . . . . a 13.00 2.107852 0.37242 . . ENSG00000156920 ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141 T;T;T;T;T 0.37915 1.21;1.21;1.17;1.28;1.17 3.05 0.638 0.17742 . . . . . T 0.41811 0.1175 L 0.32530 0.975 0.09310 N 1 D;D;D 0.67145 0.99;0.996;0.993 D;D;D 0.75484 0.971;0.986;0.968 T 0.18935 -1.0321 9 0.87932 D 0 . 4.1682 0.10317 0.6502:0.0:0.3498:0.0 . 1173;1031;1236 Q8IZF6-2;Q8IZF6-3;Q8IZF6 .;.;GP112_HUMAN A 1236;1236;1031;1173;1031 ENSP00000377699:T1236A;ENSP00000359686:T1236A;ENSP00000416526:T1031A;ENSP00000287534:T1173A;ENSP00000377697:T1031A ENSP00000287534:T1173A T + 1 0 GPR112 135257237 0.026000 0.19158 0.002000 0.10522 0.004000 0.04260 1.114000 0.31196 0.250000 0.21479 0.427000 0.28365 ACA TCGA-H6-A45N-01A-11D-A26I-08 GPR112-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000286639.1 0 0 0 68 1477 1 161 0 0 0 1 161 2 0 0 0 0 0 2 1 0.999984 68 1468 1 160 29 0 0 0 1 161 2 -5.902686 1 1 0 0 1 0 1 1 0.110000 2.030000 0.110000 0.790000 0.620000 0.990000 0.800000 0.805581 0.790000 0 0.700000 0.900000