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 SMAD4 4089 broad.mit.edu 37 18 48604742 48604743 + Frame_Shift_Del DEL CC CC - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 CC - CC CC Valid Somatic Phase_I WXS targeted Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr18:48604742_48604743delCC ENST00000342988.3 + 12 2102_2103 c.1564_1565delCC c.(1564-1566)cctfs p.P522fs SMAD4_ENST00000588745.1_Frame_Shift_Del_p.P426fs|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.P522fs NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 p.0?(36)|p.?(2) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) CAAAGAAACACCTTGCTGGATT 0.480000 38 Whole gene deletion(36)|Unknown(2) GRCh37 CD000943 SMAD4 D SO:0001589 frameshift_variant ENST00000342988.3 1 1 hg19 CCDS11950.1 TCGA-US-A77G-01A-11D-A32N-08 SMAD4-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255993.3 1 0 0 90 392 0 88 1 9.999994e-01 31 60 0 88 2 1 1 116 413 0 539 2 1 1.000000 93 390 0 87 2 0 0 0 0 0 0 -2.964154 1 1 0 0 1 0 1 1 1.633574 1 0.420000 1.870000 0.265823 0.690000 5.700000e-01 0.830000 0.700000 0.703254 0.690000 0 6.300000e-01 7.700000e-01 SPEF2 79925 broad.mit.edu 37 5 35691186 35691187 + Frame_Shift_Ins INS - - CCACCCT TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:35691186_35691187insCCACCCT ENST00000356031.3 + 11 1726_1727 c.1572_1573insCCACCCT c.(1573-1575)ccafs p.-527fs SPEF2_ENST00000440995.2_Frame_Shift_Ins_p.-527fs|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Frame_Shift_Ins_p.-527fs NM_024867.3 NP_079143.3 Q9C093 SPEF2_HUMAN sperm flagellar 2 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTGACAATTTACCACCCTCCAA 0.396000 0 SO:0001589 frameshift_variant ENST00000356031.3 0 1 hg19 CCDS43309.1 TCGA-US-A77G-01A-11D-A32N-08 SPEF2-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367199.1 1 0 0 28 419 0 68 0 0 0 68 0 0 0 0 1 1.000000 47 424 0 68 2 0 0 0 0 0 0 -6.736745 1 1 0 0 1 0 0 0 2.055894 0 0.420000 1.870000 0.420000 0.290000 2.000000e-01 0.410000 0.300000 0.306600 0.290000 0 2.400000e-01 3.600000e-01 SRPK3 26576 broad.mit.edu 37 X 153050878 153050892 + In_Frame_Del DEL CACAGTTCAGCGCCT CACAGTTCAGCGCCT - TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chrX:153050878_153050892delCACAGTTCAGCGCCT ENST00000370101.3 + 15 1653_1667 c.1607_1621delCACAGTTCAGCGCCT c.(1606-1623)acacagttcagcgccttt>att p.536_541TQFSAF>I SRPK3_ENST00000370104.1_In_Frame_Del_p.535_540TQFSAF>I|SRPK3_ENST00000370108.3_In_Frame_Del_p.503_508TQFSAF>I|IDH3G_ENST00000497043.1_5'Flank|SRPK3_ENST00000393786.3_In_Frame_Del_p.502_507TQFSAF>I|SRPK3_ENST00000489426.1_In_Frame_Del_p.603_608TQFSAF>I|SRPK3_ENST00000370100.1_In_Frame_Del_p.461_466TQFSAF>I NM_001170760.1|NM_014370.3 NP_001164231.1|NP_055185.2 Q9UPE1 SRPK3_HUMAN SRSF protein kinase 3 13 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GAGCAGGCCACACAGTTCAGCGCCTTTCTGCTGCC 0.628000 Esophageal Squamous(167;766 3400 32156) 0 SO:0001651 inframe_deletion ENST00000370101.3 1 1 hg19 CCDS35441.1 TCGA-US-A77G-01A-11D-A32N-08 SRPK3-006 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000354501.1 0 0 0 89 370 0 91 0 0 0 91 0 0 0 0 1 1.000000 113 382 0 92 2 0 0 0 0 0 0 -20.000000 1 1 0 0 1 0 1 1 0.420000 1.870000 0.420000 0.450000 3.700000e-01 0.550000 0.460000 0.463432 0.450000 0 4.100000e-01 5.100000e-01 PKD2L1 9033 broad.mit.edu 37 10 102056026 102056026 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr10:102056026G>A ENST00000318222.3 - 7 1591 c.1209C>T c.(1207-1209)ttC>ttT p.F403F PKD2L1_ENST00000353274.3_Silent_p.F403F|PKD2L1_ENST00000338519.3_Silent_p.F328F NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 43 Colorectal(252;0.117) GGAATATGTGGAAGCCCACAG 0.567000 0 SO:0001819 synonymous_variant ENST00000318222.3 1 1 hg19 CCDS7492.1 TCGA-US-A77G-01A-11D-A32N-08 PKD2L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049863.2 1 0 1 51 191 0 55 0 0 0 0 55 2 0 0 0 0 0 2 1 1.000000 51 187 0 55 2 0 0 0 0 55 2 -20.000000 1 1 121412 2 22 1 1 2 3 2.059775 0 0.420000 1.870000 0.421215 0.990000 7.700000e-01 1.000000 1.000000 0.955954 0.990000 1 8.800000e-01 1 TRPC6 7225 broad.mit.edu 37 11 101375398 101375398 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:101375398C>T ENST00000344327.3 - 2 726 c.302G>A c.(301-303)cGc>cAc p.R101H TRPC6_ENST00000348423.4_Missense_Mutation_p.R101H|TRPC6_ENST00000360497.4_Missense_Mutation_p.R101H|TRPC6_ENST00000526713.1_5'Flank|TRPC6_ENST00000532133.1_Missense_Mutation_p.R101H 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) ATCCAAAAAGCGTTCCTCCTC 0.483000 Colon(166;1315 1927 11094 12848 34731) 0 SO:0001583 missense ENST00000344327.3 1 1 hg19 CCDS8311.1 . . . . . . . . . . C 15.46 2.839593 0.51057 . . ENSG00000137672 ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497 T;T;T;T 0.80393 -1.17;-1.26;-1.09;-1.37 5.87 5.87 0.94306 . 0.096864 0.64402 D 0.000001 D 0.87577 0.6212 L 0.47190 1.495 0.54753 D 0.999989 B;D;B 0.89917 0.37;1.0;0.128 B;D;B 0.91635 0.087;0.999;0.018 D 0.86300 0.1679 10 0.48119 T 0.1 -6.1692 20.206 0.98277 0.0:1.0:0.0:0.0 . 101;101;101 Q9Y210-3;Q9Y210-2;Q9Y210 .;.;TRPC6_HUMAN H 101 ENSP00000340913:R101H;ENSP00000435574:R101H;ENSP00000343672:R101H;ENSP00000353687:R101H ENSP00000340913:R101H R - 2 0 TRPC6 100880608 1.000000 0.71417 1.000000 0.80357 0.891000 0.51852 3.915000 0.56409 2.785000 0.95823 0.655000 0.94253 CGC TCGA-US-A77G-01A-11D-A32N-08 TRPC6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394770.1 1 0 1 127 533 0 141 0 0 0 1 0 141 2 0 0 0 0 0 2 1 1.000000 125 527 0 139 2 0 0 0 0 141 2 -20.000000 1 1 121402 3 37 1 1 2 3 2.058032 0 0.420000 1.870000 0.421215 0.910000 7.700000e-01 1.000000 1.000000 0.915160 0.910000 1 8.400000e-01 9.900000e-01 DSCAML1 57453 broad.mit.edu 37 11 117651507 117651507 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:117651507C>T ENST00000321322.6 - 2 246 c.245G>A c.(244-246)gGc>gAc p.G82D DSCAML1_ENST00000527706.1_Missense_Mutation_p.G22D NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) GAGGCTGGTGCCAACATCTTC 0.612000 0 SO:0001583 missense ENST00000321322.6 1 1 hg19 CCDS8384.1 . . . . . . . . . . C 13.90 2.374942 0.42105 . . ENSG00000177103 ENST00000527706;ENST00000321322 T;T 0.61158 0.13;0.24 5.1 5.1 0.69264 Immunoglobulin-like (1); . . . . T 0.38241 0.1033 N 0.08118 0 0.51482 D 0.99992 B 0.26002 0.139 B 0.24701 0.055 T 0.26849 -1.0091 9 0.11182 T 0.66 . 18.9124 0.92491 0.0:1.0:0.0:0.0 . 22 Q8TD84 DSCL1_HUMAN D 22;82 ENSP00000434335:G22D;ENSP00000315465:G82D ENSP00000315465:G82D G - 2 0 DSCAML1 117156717 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 2.439000 0.44846 2.536000 0.85505 0.563000 0.77884 GGC TCGA-US-A77G-01A-11D-A32N-08 DSCAML1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000392907.2 1 0 0 19 34 0 20 0 0 0 0 20 2 0 0 0 0 0 2 1 0.999998 19 34 0 19 2 0 0 0 0 20 2 -20.000000 1 1 0 0 1 1 2 3 2.058032 0 0.420000 1.870000 0.421215 0.990000 9.900000e-01 1.000000 1.000000 0.999443 0.990000 1 9.900000e-01 1 CHST1 8534 broad.mit.edu 37 11 45671609 45671609 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:45671609G>A ENST00000308064.2 - 4 1535 c.865C>T c.(865-867)Cgg>Tgg p.R289W CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 42 CACGGGGGCCGCATGAGGCCG 0.617000 0 SO:0001583 missense ENST00000308064.2 0 1 hg19 CCDS7913.1 . . . . . . . . . . G 19.41 3.821565 0.71028 . . ENSG00000175264 ENST00000308064 T 0.76316 -1.01 4.89 4.89 0.63831 Sulfotransferase domain (1); 0.062547 0.64402 D 0.000005 D 0.86422 0.5929 M 0.67953 2.075 0.58432 D 0.999998 D 0.89917 1.0 D 0.70935 0.971 D 0.85721 0.1325 10 0.37606 T 0.19 -19.3412 18.0436 0.89326 0.0:0.0:1.0:0.0 . 289 O43916 CHST1_HUMAN W 289 ENSP00000309270:R289W ENSP00000309270:R289W R - 1 2 CHST1 45628185 1.000000 0.71417 0.850000 0.33497 0.988000 0.76386 5.503000 0.66962 2.252000 0.74401 0.462000 0.41574 CGG TCGA-US-A77G-01A-11D-A32N-08 CHST1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000390127.1 0 0 0 5 556 0 127 0 1.743712e-02 0 18 0 127 2 0 0 0 0 0 2 1 0.936315 5 551 0 120 2 0 0 0 0 127 2 -1.780105 0 1 0 0 1 1 2 3 2.058032 0 0.420000 1.870000 0.421215 0.040000 0 0.100000 0.040000 0.050588 0.040000 0 2.000000e-02 7.000000e-02 OR51A7 119687 broad.mit.edu 37 11 4929119 4929119 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:4929119C>T ENST00000359350.4 + 1 520 c.520C>T c.(520-522)Ctt>Ttt p.L174F MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) AAAGAATCTTCTTTCTCACTC 0.388000 0 SO:0001583 missense ENST00000359350.4 0 1 hg19 CCDS31364.1 . . . . . . . . . . C 16.84 3.234429 0.58886 . . ENSG00000176895 ENST00000359350;ENST00000545959;ENST00000544684 T 0.38240 1.15 5.02 4.08 0.47627 GPCR, rhodopsin-like superfamily (1); 0.000000 0.42172 D 0.000741 T 0.63010 0.2475 M 0.90922 3.16 0.21604 N 0.999623 D 0.89917 1.0 D 0.97110 1.0 T 0.57900 -0.7731 10 0.87932 D 0 . 7.8969 0.29712 0.1585:0.757:0.0:0.0845 . 174 Q8NH64 O51A7_HUMAN F 174;174;163 ENSP00000352305:L174F ENSP00000352305:L174F L + 1 0 OR51A7 4885695 0.004000 0.15560 0.995000 0.50966 0.955000 0.61496 0.280000 0.18790 2.596000 0.87737 0.655000 0.94253 CTT TCGA-US-A77G-01A-11D-A32N-08 OR51A7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000142175.1 0 0 0 5 388 0 88 0 0 0 0 88 2 0 0 0 0 0 2 1 0.935804 5 383 0 88 2 0 0 0 0 88 2 -3.227376 1 1 0 0 1 1 2 3 2.069199 0 0.420000 1.870000 0.422426 0.060000 1.000000e-02 0.150000 0.060000 0.081463 0.060000 0 3.000000e-02 1.000000e-01 MMP26 56547 broad.mit.edu 37 11 5009493 5009493 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:5009493G>A ENST00000380390.1 + 2 268 c.52G>A c.(52-54)Gtt>Att p.V18I MMP26_ENST00000300762.1_Missense_Mutation_p.V18I|MMP26_ENST00000477339.1_Intron Q9NRE1 MMP26_HUMAN matrix metallopeptidase 26 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Marimastat(DB00786) GTGTTTCGCCGTTCCAGTGCC 0.493000 0 SO:0001583 missense ENST00000380390.1 0 1 hg19 CCDS7752.1 . . . . . . . . . . g 3.577 -0.086437 0.07097 . . ENSG00000167346 ENST00000380390;ENST00000300762 T;T 0.26067 1.76;1.76 3.3 -6.6 0.01824 . 0.975329 0.08322 N 0.963623 T 0.06872 0.0175 N 0.02011 -0.69 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.26710 -1.0095 10 0.35671 T 0.21 0.1393 2.2024 0.03927 0.2392:0.4375:0.1215:0.2018 . 18 Q9NRE1 MMP26_HUMAN I 18 ENSP00000369753:V18I;ENSP00000300762:V18I ENSP00000300762:V18I V + 1 0 MMP26 4966069 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -2.164000 0.01275 -2.497000 0.00513 -4.594000 0.00004 GTT TCGA-US-A77G-01A-11D-A32N-08 MMP26-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000142058.3 0 0 0 7 683 0 123 0 0 0 0 123 2 0 0 0 0 0 2 1 0.979845 8 674 0 121 2 0 0 0 0 123 2 -2.351227 0 1 121412 5 40 1 1 2 3 2.069199 0 0.420000 1.870000 0.422426 0.040000 1.000000e-02 0.110000 0.050000 0.064504 0.040000 0 3.000000e-02 8.000000e-02 HPX 3263 broad.mit.edu 37 11 6452915 6452915 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr11:6452915G>A ENST00000265983.3 - 9 1185 c.1085C>T c.(1084-1086)gCg>gTg p.A362V NM_000613.2 NP_000604.1 P02790 HEMO_HUMAN hemopexin 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) GATAAAGGCCGCATCCACAGA 0.557000 0 SO:0001583 missense ENST00000265983.3 0 1 hg19 CCDS7763.1 . . . . . . . . . . G 22.8 4.336128 0.81801 . . ENSG00000110169 ENST00000265983 T 0.20200 2.09 5.62 5.62 0.85841 Hemopexin/matrixin (2); 0.000000 0.85682 D 0.000000 T 0.48277 0.1491 M 0.84683 2.71 0.80722 D 1 D 0.89917 1.0 P 0.59221 0.854 T 0.54463 -0.8290 10 0.87932 D 0 -12.4094 17.1339 0.86734 0.0:0.0:1.0:0.0 . 362 P02790 HEMO_HUMAN V 362 ENSP00000265983:A362V ENSP00000265983:A362V A - 2 0 HPX 6409491 1.000000 0.71417 1.000000 0.80357 0.337000 0.28794 6.271000 0.72569 2.656000 0.90262 0.561000 0.74099 GCG TCGA-US-A77G-01A-11D-A32N-08 HPX-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257256.1 0 0 0 5 526 0 89 0 0 0 0 89 2 0 0 0 0 0 2 1 0.935930 5 520 0 87 2 0 0 0 0 89 2 -2.276699 0 1 121412 1 31 1 1 2 3 2.058032 0 0.420000 1.870000 0.421215 0.040000 0 0.110000 0.040000 0.053477 0.040000 0 2.000000e-02 8.000000e-02 UTP20 27340 broad.mit.edu 37 12 101760468 101760468 + Silent SNP C C T rs112368779 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:101760468C>T ENST00000261637.4 + 47 6432 c.6258C>T c.(6256-6258)tcC>tcT p.S2086S NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 88 TTATTGAGTCCGGGCTTCGGG 0.458000 0 SO:0001819 synonymous_variant ENST00000261637.4 1 1 hg19 CCDS9081.1 TCGA-US-A77G-01A-11D-A32N-08 UTP20-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000408242.1 0 0 0 14 514 0 105 0 3.863188e-02 0 11 0 105 2 0 0 0 0 0 2 1 0.999732 14 507 0 103 2 0 0 0 0 105 2 -2.416580 0 1 121412 1 35 1 0 1 1 1.616471 1 0.420000 1.870000 0.267769 0.090000 5.000000e-02 0.160000 0.100000 0.106196 0.090000 0 7.000000e-02 1.300000e-01 GOLGA3 2802 broad.mit.edu 37 12 133381515 133381515 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:133381515G>A ENST00000450791.2 - 6 1567 c.1384C>T c.(1384-1386)Cgg>Tgg p.R462W GOLGA3_ENST00000545875.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000204726.3_Missense_Mutation_p.R462W|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R462W|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R462W Q08378 GOGA3_HUMAN golgin A3 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) GAATCCTGCCGCTGCTGGCTG 0.612000 0 SO:0001583 missense ENST00000450791.2 0 1 hg19 CCDS9281.1 . . . . . . . . . . G 22.1 4.240122 0.79912 . . ENSG00000090615 ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875 D;D;D;D;D 0.82711 -1.64;-1.64;-1.64;-1.64;-1.64 5.45 3.12 0.35913 . 0.357463 0.36167 N 0.002757 T 0.74099 0.3672 N 0.14661 0.345 0.80722 D 1 D;D;D 0.71674 0.995;0.995;0.998 P;B;P 0.50708 0.648;0.431;0.62 T 0.73503 -0.3962 10 0.87932 D 0 . 7.5344 0.27702 0.0:0.0804:0.1589:0.7607 . 462;462;462 Q08378-4;Q08378-2;Q08378 .;.;GOGA3_HUMAN W 462 ENSP00000204726:R462W;ENSP00000410378:R462W;ENSP00000409303:R462W;ENSP00000442143:R462W;ENSP00000442603:R462W ENSP00000204726:R462W R - 1 2 GOLGA3 131891588 1.000000 0.71417 0.973000 0.42090 0.927000 0.56198 2.687000 0.46976 0.376000 0.24707 0.561000 0.74099 CGG TCGA-US-A77G-01A-11D-A32N-08 GOLGA3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000397569.2 0 0 0 6 404 0 91 0 1.702012e-01 0 43 0 91 2 0 0 0 0 0 2 1 0.963616 6 398 0 90 2 0 0 0 0 91 2 -2.925938 1 1 121380 1 28 1 0 1 1 2.050329 0 0.420000 1.870000 0.418779 0.070000 2.000000e-02 0.140000 0.070000 0.080478 0.070000 0 4.000000e-02 1.100000e-01 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 C G C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:25398285C>G ENST00000256078.4 - 2 97 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 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 5144 Substitution - Missense(5142)|Insertion - In frame(2) GRCh37 CM076251 KRAS M rs121913530 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 1 1 hg19 CCDS8703.1 . . . . . . . . . . C 28.6 4.930538 0.92389 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78246 -1.16;-1.16;-1.16;-1.16 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.84893 0.5573 M 0.84082 2.675 0.80722 D 1 P;P 0.43287 0.802;0.741 B;P 0.47941 0.36;0.562 D 0.86658 0.1902 10 0.66056 D 0.02 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN R 12 ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R ENSP00000256078:G12R G - 1 0 KRAS 25289552 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-US-A77G-01A-11D-A32N-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 19 93 0 17 1 9.685956e-01 14 17 0 17 2 1 1 56 255 0 340 2 1 0.999995 19 93 0 17 2 1 1 1940 6087 0 17 2 -12.947140 1 1 0 0 1 0 0 0 2.056247 0 0.420000 1.870000 0.420000 0.800000 5.100000e-01 1.000000 1.000000 0.810550 0.800000 0 6.500000e-01 9.800000e-01 SPRYD3 84926 broad.mit.edu 37 12 53462066 53462066 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:53462066C>T ENST00000301463.4 - 7 802 c.716G>A c.(715-717)gGc>gAc p.G239D SPRYD3_ENST00000547837.1_Missense_Mutation_p.G276D NM_032840.2 NP_116229.1 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 17 GATGCTTTTGCCCTTCCCTAA 0.637000 0 SO:0001583 missense ENST00000301463.4 0 1 hg19 CCDS8845.1 . . . . . . . . . . C 32 5.152619 0.94645 . . ENSG00000167778 ENST00000301463;ENST00000547837 . . . 5.16 5.16 0.70880 . 0.000000 0.85682 D 0.000000 T 0.67363 0.2885 L 0.36672 1.1 0.80722 D 1 D 0.76494 0.999 D 0.74023 0.982 T 0.67345 -0.5694 9 0.48119 T 0.1 . 16.5377 0.84377 0.0:1.0:0.0:0.0 . 239 Q8NCJ5 SPRY3_HUMAN D 239;276 . ENSP00000301463:G239D G - 2 0 SPRYD3 51748333 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.218000 0.77991 2.575000 0.86900 0.561000 0.74099 GGC TCGA-US-A77G-01A-11D-A32N-08 SPRYD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000407264.1 0 0 0 6 858 0 176 0 2.611069e-01 1 122 0 176 2 0 0 0 0 0 2 1 0.963354 6 846 0 175 2 0 0 0 0 176 2 -1.980946 0 1 0 0 1 0 1 1 2.052164 0 0.420000 1.870000 0.418779 0.030000 0 0.070000 0.040000 0.037918 0.030000 0 1.000000e-02 5.000000e-02 NCKAP1L 3071 broad.mit.edu 37 12 54917197 54917197 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:54917197C>T ENST00000293373.6 + 19 1977 c.1898C>T c.(1897-1899)gCc>gTc p.A633V NCKAP1L_ENST00000545638.2_Missense_Mutation_p.A583V NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 80 AAGCACTGTGCCACTACAATC 0.473000 0 SO:0001583 missense ENST00000293373.6 0 1 hg19 CCDS31813.1 . . . . . . . . . . C 26.1 4.701576 0.88924 . . ENSG00000123338 ENST00000293373;ENST00000545638 T;T 0.39787 1.06;1.06 5.35 5.35 0.76521 . 0.000000 0.85682 D 0.000000 T 0.61999 0.2392 M 0.63843 1.955 0.80722 D 1 D 0.76494 0.999 D 0.87578 0.998 T 0.57814 -0.7746 10 0.36615 T 0.2 -15.2108 16.9443 0.86226 0.0:1.0:0.0:0.0 . 633 P55160 NCKPL_HUMAN V 633;583 ENSP00000293373:A633V;ENSP00000445596:A583V ENSP00000293373:A633V A + 2 0 NCKAP1L 53203464 1.000000 0.71417 1.000000 0.80357 0.909000 0.53808 7.491000 0.81471 2.673000 0.90976 0.655000 0.94253 GCC TCGA-US-A77G-01A-11D-A32N-08 NCKAP1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406195.1 0 0 0 6 876 0 147 0 1.042657e-03 0 6 0 147 2 0 0 0 0 0 2 1 0.964280 6 870 0 146 2 0 0 0 0 147 2 -2.087043 0 1 0 0 1 0 1 1 2.052164 0 0.420000 1.870000 0.418779 0.030000 0 0.070000 0.040000 0.037083 0.030000 0 1.000000e-02 5.000000e-02 ARHGAP9 64333 broad.mit.edu 37 12 57868253 57868253 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:57868253G>A ENST00000356411.2 - 15 1931 c.1793C>T c.(1792-1794)gCg>gTg p.A598V ARHGAP9_ENST00000550288.1_Missense_Mutation_p.A658V|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.A395V|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.A579V|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.A669V|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.A579V Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 30 GBM - Glioblastoma multiforme(3;3.37e-34) GGAGGTGACCGCACGCTCTGC 0.517000 0 SO:0001583 missense ENST00000356411.2 0 1 hg19 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 19.68|19.68 3.873016|3.873016 0.72180|0.72180 .|. .|. ENSG00000123329|ENSG00000123329 ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041|ENST00000550399 T;T;T;T;T|. 0.19669|. 2.13;2.13;2.13;2.13;2.13|. 5.08|5.08 5.08|5.08 0.68730|0.68730 Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|. 0.075671|. 0.48286|. D|. 0.000194|. T|T 0.61565|0.61565 0.2357|0.2357 L|L 0.43152|0.43152 1.355|1.355 0.58432|0.58432 D|D 0.999992|0.999992 P;P;P;P;D|. 0.59767|. 0.934;0.837;0.758;0.934;0.986|. P;B;B;P;P|. 0.54965|. 0.457;0.272;0.328;0.535;0.765|. T|T 0.55854|0.55854 -0.8075|-0.8075 10|5 0.59425|. D|. 0.04|. .|. 15.8782|15.8782 0.79182|0.79182 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 658;598;579;579;395|. Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3|. .;RHG09_HUMAN;.;.;.|. V|W 579;598;249;579;669;628;395|49 ENSP00000377380:A579V;ENSP00000348782:A598V;ENSP00000394307:A579V;ENSP00000377386:A669V;ENSP00000397950:A395V|. ENSP00000344852:A628V|. A|R -|- 2|1 0|2 ARHGAP9|ARHGAP9 56154520|56154520 1.000000|1.000000 0.71417|0.71417 0.954000|0.954000 0.39281|0.39281 0.245000|0.245000 0.25701|0.25701 5.408000|5.408000 0.66368|0.66368 2.826000|2.826000 0.97356|0.97356 0.655000|0.655000 0.94253|0.94253 GCG|CGG TCGA-US-A77G-01A-11D-A32N-08 ARHGAP9-201 KNOWN basic|appris_candidate protein_coding protein_coding 0 0 0 4 223 0 54 0 3.081344e-02 0 12 0 54 2 0 0 0 0 0 2 1 0.891148 4 223 0 53 2 0 0 0 0 54 2 -3.171083 1 1 0 0 1 0 1 1 2.052164 0 0.420000 1.870000 0.418779 0.090000 2.000000e-02 0.200000 0.080000 0.103111 0.090000 0 5.000000e-02 1.500000e-01 GNS 2799 broad.mit.edu 37 12 65113959 65113959 + Missense_Mutation SNP A A G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 A G A A Valid Somatic Phase_I WXS RNA Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr12:65113959A>G ENST00000258145.3 - 13 1593 c.1423T>C c.(1423-1425)Ttt>Ctt p.F475L GNS_ENST00000543646.1_Missense_Mutation_p.F507L|GNS_ENST00000418919.2_Missense_Mutation_p.F419L|GNS_ENST00000542058.1_Missense_Mutation_p.F455L NM_002076.3 NP_002067.1 P15586 GNS_HUMAN glucosamine (N-acetyl)-6-sulfatase 15 Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12) LUAD - Lung adenocarcinoma(6;0.115) ACTTCTACAAACACCTAGAGG 0.408000 0 SO:0001583 missense ENST00000258145.3 1 1 hg19 CCDS8970.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 33|33 5.208974|5.208974 0.95069|0.95069 .|. .|. ENSG00000135677|ENSG00000135677 ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825|ENST00000540196 T;T;T;T|T 0.64991|0.19105 1.84;-0.13;-0.13;-0.13|2.17 5.39|5.39 5.39|5.39 0.77823|0.77823 Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.48059|0.48059 0.1479|0.1479 M|M 0.85777|0.85777 2.775|2.775 0.80722|0.80722 D|D 1|1 D;D;D;D|. 0.89917|. 0.995;1.0;0.974;1.0|. D;D;D;D|. 0.91635|. 0.969;0.999;0.949;0.998|. T|T 0.53344|0.53344 -0.8452|-0.8452 9|6 .|. .|. .|. -20.6884|-20.6884 15.7218|15.7218 0.77718|0.77718 1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0 .|. 455;507;475;419|. B4DYH8;F6S8M0;P15586;Q7Z3X3|. .;.;GNS_HUMAN;.|. L|A 419;475;507;455;392|260 ENSP00000413130:F419L;ENSP00000258145:F475L;ENSP00000438497:F507L;ENSP00000444819:F455L|ENSP00000437782:V260A .|. F|V -|- 1|2 0|0 GNS|GNS 63400226|63400226 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.904000|0.904000 0.53231|0.53231 9.204000|9.204000 0.95041|0.95041 2.180000|2.180000 0.69256|0.69256 0.459000|0.459000 0.35465|0.35465 TTT|GTT TCGA-US-A77G-01A-11D-A32N-08 GNS-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000401195.2 1 0 1 166 578 0 127 1 1 44 56 0 127 2 0 0 0 0 0 2 1 1.000000 163 573 0 125 2 0 0 0 0 127 2 -20.000000 1 1 0 0 1 0 1 1 2.052164 0 0.420000 1.870000 0.418779 0.990000 9.100000e-01 1.000000 1.000000 0.992277 0.990000 1 9.800000e-01 1 SLC46A3 283537 broad.mit.edu 37 13 29284936 29284936 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr13:29284936G>A ENST00000266943.6 - 4 1474 c.1105C>T c.(1105-1107)Cgg>Tgg p.R369W SLC46A3_ENST00000380814.4_Missense_Mutation_p.R369W NM_001135919.1|NM_181785.3 NP_001129391.1|NP_861450.1 Q7Z3Q1 S46A3_HUMAN solute carrier family 46, member 3 15 Lung SC(185;0.0367) AACATGGACCGTAGAACAGAG 0.398000 0 SO:0001583 missense ENST00000266943.6 0 1 hg19 CCDS9332.1 . . . . . . . . . . G 17.35 3.367312 0.61513 . . ENSG00000139508 ENST00000266943;ENST00000380814 T;T 0.80304 -1.36;-1.36 5.87 4.05 0.47172 Major facilitator superfamily domain, general substrate transporter (1); 0.000000 0.85682 D 0.000000 D 0.89914 0.6853 M 0.82630 2.6 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.91020 0.4856 10 0.87932 D 0 -25.3129 15.0378 0.71764 0.0:0.0:0.7331:0.2669 . 369;369 Q7Z3Q1-2;Q7Z3Q1 .;S46A3_HUMAN W 369 ENSP00000266943:R369W;ENSP00000370192:R369W ENSP00000266943:R369W R - 1 2 SLC46A3 28182936 1.000000 0.71417 0.662000 0.29724 0.241000 0.25554 3.111000 0.50360 0.837000 0.34925 0.655000 0.94253 CGG TCGA-US-A77G-01A-11D-A32N-08 SLC46A3-003 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000276111.1 0 0 0 5 419 0 67 0 2.783418e-01 0 74 0 67 2 0 0 0 0 0 2 1 0.936324 5 415 0 65 2 0 0 0 0 67 2 -2.523234 1 1 0 0 1 1 2 3 2.146113 0 0.420000 1.870000 0.433095 0.060000 1.000000e-02 1.000000 0.060000 0.151171 0.060000 0 3.000000e-02 1.100000e-01 SOHLH2 54937 broad.mit.edu 37 13 36744911 36744911 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr13:36744911G>A ENST00000379881.3 - 10 1102 c.1014C>T c.(1012-1014)tcC>tcT p.S338S SOHLH2_ENST00000554962.1_Silent_p.S415S|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.S415S NM_017826.2 NP_060296.2 Q9NX45 SOLH2_HUMAN spermatogenesis and oogenesis specific basic helix-loop-helix 2 26 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) TCTCTGAGGCGGAGCTTGATG 0.388000 0 SO:0001819 synonymous_variant ENST00000379881.3 0 1 hg19 CCDS9355.1 TCGA-US-A77G-01A-11D-A32N-08 SOHLH2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044477.2 0 0 0 6 429 0 73 0 0 0 1 0 73 2 0 0 0 0 0 2 1 0.964207 5 426 0 70 2 0 0 0 0 73 2 -3.061295 1 1 0 0 1 1 2 3 2.146113 0 0.420000 1.870000 0.433095 0.070000 2.000000e-02 1.000000 0.070000 0.159773 0.070000 0 4.000000e-02 1.200000e-01 DIAPH3 81624 broad.mit.edu 37 13 60557994 60557994 + Silent SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr13:60557994C>T ENST00000400324.4 - 13 1609 c.1389G>A c.(1387-1389)gaG>gaA p.E463E DIAPH3_ENST00000400320.1_Silent_p.E417E|DIAPH3_ENST00000267215.4_Silent_p.E463E|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Silent_p.E452E|DIAPH3_ENST00000400319.1_Silent_p.E393E|DIAPH3_ENST00000400330.1_Silent_p.E463E NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GGGATACACACTCATCAATTA 0.313000 0 SO:0001819 synonymous_variant ENST00000400324.4 1 1 hg19 CCDS41898.1 TCGA-US-A77G-01A-11D-A32N-08 DIAPH3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000045166.3 1 0 1 107 428 0 84 1 4.258298e-01 4 3 0 84 2 0 0 0 0 0 2 1 1.000000 107 424 0 84 2 0 0 0 0 84 2 -20.000000 1 1 0 0 1 1 2 3 2.146113 0 0.420000 1.870000 0.433095 0.980000 8.100000e-01 1.000000 1.000000 0.957805 0.980000 1 8.900000e-01 1 C14orf93 60686 broad.mit.edu 37 14 23467783 23467783 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr14:23467783G>A ENST00000299088.6 - 2 879 c.450C>T c.(448-450)agC>agT p.S150S C14orf93_ENST00000557513.1_5'Flank|C14orf93_ENST00000397377.1_5'UTR|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000406429.2_Silent_p.S150S|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397382.4_Silent_p.S150S|C14orf93_ENST00000341470.4_Silent_p.S150S|C14orf93_ENST00000397379.3_Silent_p.S150S NM_001130708.1|NM_021944.2 NP_001124180.1|NP_068763.2 Q9H972 CN093_HUMAN chromosome 14 open reading frame 93 17 all_cancers(95;3.3e-05) CCTGCACGCCGCTGCCCACGC 0.637000 0 SO:0001819 synonymous_variant ENST00000299088.6 0 1 hg19 CCDS9583.1 TCGA-US-A77G-01A-11D-A32N-08 C14orf93-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000071688.5 0 0 0 5 212 0 52 0 1.262221e-01 0 22 0 52 2 0 0 0 0 0 2 1 0.934390 5 208 0 52 2 0 0 0 0 52 2 -3.518828 1 1 121412 1 33 1 0 1 1 1.647296 1 0.420000 1.870000 0.265823 0.090000 3.000000e-02 0.190000 0.090000 0.101752 0.090000 0 5.000000e-02 1.400000e-01 FANCM 57697 broad.mit.edu 37 14 45658329 45658329 + Missense_Mutation SNP G G T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr14:45658329G>T ENST00000267430.5 + 20 5189 c.5104G>T c.(5104-5106)Gac>Tac p.D1702Y FANCM_ENST00000542564.2_Missense_Mutation_p.D1676Y NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 85 CAAACAACAGGACCATTGTTT 0.398000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 0 SO:0001583 missense Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) ENST00000267430.5 1 1 hg19 CCDS32070.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 14.75|14.75 2.627860|2.627860 0.46944|0.46944 .|. .|. ENSG00000187790|ENSG00000187790 ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809 T;T;T|. 0.76578|. -1.03;-1.03;-1.03|. 4.83|4.83 2.99|2.99 0.34606|0.34606 .|. 1.959200|. 0.02691|. N|. 0.110584|. T|T 0.40372|0.40372 0.1114|0.1114 L|L 0.50333|0.50333 1.59|1.59 0.09310|0.09310 N|N 1|1 D;D|. 0.56521|. 0.976;0.976|. P;P|. 0.47744|. 0.556;0.556|. T|T 0.25047|0.25047 -1.0143|-1.0143 10|5 0.54805|. T|. 0.06|. .|. 7.073|7.073 0.25189|0.25189 0.2863:0.0:0.7137:0.0|0.2863:0.0:0.7137:0.0 .|. 1676;1702|. B2RTQ9;Q8IYD8|. .;FANCM_HUMAN|. Y|V 1702;1676;1218|634 ENSP00000267430:D1702Y;ENSP00000442493:D1676Y;ENSP00000452033:D1218Y|. ENSP00000267430:D1702Y|. D|G +|+ 1|2 0|0 FANCM|FANCM 44728079|44728079 0.290000|0.290000 0.24343|0.24343 0.001000|0.001000 0.08648|0.08648 0.313000|0.313000 0.28021|0.28021 1.643000|1.643000 0.37217|0.37217 0.565000|0.565000 0.29255|0.29255 0.650000|0.650000 0.86243|0.86243 GAC|GGA TCGA-US-A77G-01A-11D-A32N-08 FANCM-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000410474.1 1 0 1 124 534 0 113 0 3.936267e-01 1 6 0 113 2 0 0 0 0 0 2 1 1.000000 121 525 0 112 2 0 0 0 0 113 2 -20.000000 1 1 0 0 1 0 1 1 2.054670 0 0.420000 1.870000 0.418779 0.890000 7.500000e-01 1.000000 1.000000 0.895139 0.890000 1 8.200000e-01 9.700000e-01 PGBD4 161779 broad.mit.edu 37 15 34396066 34396066 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr15:34396066G>A ENST00000397766.2 + 1 1793 c.1334G>A c.(1333-1335)cGc>cAc p.R445H EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank NM_152595.4 NP_689808.2 Q96DM1 PGBD4_HUMAN piggyBac transposable element derived 4 16 all_lung(180;1.76e-08) CCATCTGAGCGCAAAAGACAC 0.413000 0 SO:0001583 missense ENST00000397766.2 0 1 hg19 CCDS10033.1 . . . . . . . . . . g 17.93 3.508096 0.64410 . . ENSG00000182405 ENST00000397766 T 0.19938 2.11 1.02 -1.24 0.09435 . 3.690650 0.02398 N 0.080343 T 0.34106 0.0886 L 0.55481 1.735 0.09310 N 0.99999 D 0.67145 0.996 D 0.68353 0.957 T 0.23511 -1.0186 10 0.25106 T 0.35 . 1.9806 0.03426 0.4088:0.0:0.3294:0.2618 . 445 Q96DM1 PGBD4_HUMAN H 445 ENSP00000380872:R445H ENSP00000380872:R445H R + 2 0 PGBD4 32183358 0.487000 0.25988 0.009000 0.14445 0.953000 0.61014 0.430000 0.21428 -0.479000 0.06813 0.306000 0.20318 CGC TCGA-US-A77G-01A-11D-A32N-08 PGBD4-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000251522.1 0 0 0 6 377 0 85 0 3.768252e-04 0 2 0 85 2 0 0 0 0 0 2 1 0.964702 6 375 0 85 2 0 0 0 0 85 2 -2.432565 0 1 0 0 1 0 0 0 2.032407 0 0.420000 1.870000 0.415087 0.070000 2.000000e-02 0.150000 0.080000 0.085546 0.070000 0 4.000000e-02 1.200000e-01 TLN2 83660 broad.mit.edu 37 15 63088384 63088384 + Missense_Mutation SNP C C A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr15:63088384C>A ENST00000561311.1 + 46 6172 c.5942C>A c.(5941-5943)aCa>aAa p.T1981K TLN2_ENST00000306829.6_Missense_Mutation_p.T1981K Q9Y4G6 TLN2_HUMAN talin 2 99 GCATGCATTACAGCCGCCACC 0.562000 0 SO:0001583 missense ENST00000561311.1 0 1 hg19 CCDS32261.1 . . . . . . . . . . C 22.6 4.317805 0.81469 . . ENSG00000171914 ENST00000306829 T 0.69040 -0.37 5.49 5.49 0.81192 . 0.000000 0.85682 D 0.000000 T 0.75155 0.3811 M 0.64997 1.995 0.80722 D 1 D 0.67145 0.996 P 0.55303 0.773 T 0.70941 -0.4735 10 0.23302 T 0.38 -17.5484 19.3855 0.94554 0.0:1.0:0.0:0.0 . 1981 Q9Y4G6 TLN2_HUMAN K 1981 ENSP00000303476:T1981K ENSP00000303476:T1981K T + 2 0 TLN2 60875437 1.000000 0.71417 0.964000 0.40570 0.521000 0.34408 7.776000 0.85560 2.569000 0.86673 0.655000 0.94253 ACA TCGA-US-A77G-01A-11D-A32N-08 TLN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257878.2 0 0 0 6 402 0 63 0 9.775769e-02 0 30 0 63 2 0 0 0 0 0 2 0 0.963044 1 399 0 62 2 0 0 0 0 63 2 -5.984040 1 0 0 0 1 0 0 0 2.031128 0 0.420000 1.870000 0.415087 0.070000 2.000000e-02 0.140000 0.070000 0.080351 0.070000 0 4.000000e-02 1.100000e-01 KIAA0556 23247 broad.mit.edu 37 16 27640032 27640032 + Missense_Mutation SNP A A G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr16:27640032A>G ENST00000261588.4 + 4 210 c.191A>G c.(190-192)cAc>cGc p.H64R NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 76 AGGCTGGAGCACTTGGAGCAA 0.488000 0 SO:0001583 missense ENST00000261588.4 1 1 hg19 CCDS32415.1 . . . . . . . . . . A 12.65 2.000654 0.35320 . . ENSG00000047578 ENST00000261588 T 0.39997 1.05 5.21 5.21 0.72293 . 0.237136 0.35349 N 0.003262 T 0.51092 0.1654 L 0.48642 1.525 0.40163 D 0.977085 D 0.61697 0.99 P 0.61592 0.891 T 0.45366 -0.9266 10 0.22109 T 0.4 . 12.6144 0.56567 1.0:0.0:0.0:0.0 . 64 O60303 K0556_HUMAN R 64 ENSP00000261588:H64R ENSP00000261588:H64R H + 2 0 KIAA0556 27547533 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 3.096000 0.50243 1.973000 0.57446 0.454000 0.30748 CAC TCGA-US-A77G-01A-11D-A32N-08 KIAA0556-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000433724.1 1 0 0 69 699 0 128 1 1.948003e-01 2 7 0 128 2 0 0 0 0 0 2 1 1.000000 69 688 0 128 2 0 0 0 0 128 2 -18.467950 1 1 0 0 1 0 0 0 2.054990 0 0.420000 1.870000 0.420000 0.420000 3.300000e-01 0.530000 0.420000 0.432112 0.420000 0 3.700000e-01 4.800000e-01 HAS3 3038 broad.mit.edu 37 16 69148721 69148721 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr16:69148721G>A ENST00000306560.1 + 4 1370 c.1214G>A c.(1213-1215)cGc>cAc p.R405H HAS3_ENST00000569188.1_Missense_Mutation_p.R405H|HAS3_ENST00000219322.3_Intron NM_005329.2 NP_005320.2 O00219 HYAS3_HUMAN hyaluronan synthase 3 p.R405H(1) 16 Ovarian(137;0.101) TACCGGGGCCGCATCTGGAAC 0.542000 1 Substitution - Missense(1) SO:0001583 missense ENST00000306560.1 0 1 hg19 CCDS10871.1 . . . . . . . . . . G 26.1 4.700380 0.88924 . . ENSG00000103044 ENST00000306560 T 0.59364 0.27 6.07 6.07 0.98685 . 0.000000 0.85682 D 0.000000 T 0.68869 0.3048 L 0.59436 1.845 0.58432 D 0.999998 D 0.63046 0.992 P 0.54312 0.748 T 0.65899 -0.6056 10 0.44086 T 0.13 -8.402 20.2544 0.98414 0.0:0.0:1.0:0.0 . 405 O00219 HAS3_HUMAN H 405 ENSP00000304440:R405H ENSP00000304440:R405H R + 2 0 HAS3 67706222 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 6.749000 0.74883 2.885000 0.99019 0.655000 0.94253 CGC TCGA-US-A77G-01A-11D-A32N-08 HAS3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000268898.2 0 0 0 6 620 1 124 0 2.440147e-02 0 51 1 124 3 0 0 0 0 0 2 0 0.010155 7 615 1 122 18 0 0 0 1 124 2 -2.015021 0 1 121412 1 31 1 0 0 0 2.054990 0 0.420000 1.870000 0.420000 0.040000 1.000000e-02 0.100000 0.040000 0.052942 0.040000 0 2.000000e-02 7.000000e-02 WDR90 197335 broad.mit.edu 37 16 711075 711075 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr16:711075G>A ENST00000293879.4 + 29 3416 c.3416G>A c.(3415-3417)cGc>cAc p.R1139H WDR90_ENST00000549091.1_Missense_Mutation_p.R1139H Q96KV7 WDR90_HUMAN WD repeat domain 90 37 Hepatocellular(780;0.0218) ACGTGCGGCCGCCTGGTGGTG 0.746000 0 SO:0001583 missense ENST00000293879.4 0 1 hg19 CCDS42092.1 . . . . . . . . . . G 11.47 1.648178 0.29336 2.62E-4 0.0 ENSG00000161996 ENST00000549091;ENST00000293879 T;T 0.42513 1.55;0.97 4.96 3.0 0.34707 Quinonprotein alcohol dehydrogenase-like (1); 0.436630 0.26072 N 0.026520 T 0.24236 0.0587 N 0.12182 0.205 0.80722 D 1 B;B 0.10296 0.003;0.002 B;B 0.08055 0.003;0.002 T 0.03807 -1.1002 10 0.42905 T 0.14 . 10.5167 0.44894 0.1582:0.0:0.8418:0.0 . 1139;1139 F8VUX9;Q96KV7 .;WDR90_HUMAN H 1139 ENSP00000448122:R1139H;ENSP00000293879:R1139H ENSP00000293879:R1139H R + 2 0 WDR90 651076 0.817000 0.29147 0.620000 0.29132 0.104000 0.19210 4.351000 0.59398 0.619000 0.30197 -0.671000 0.03813 CGC TCGA-US-A77G-01A-11D-A32N-08 WDR90-002 NOVEL basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000404335.1 0 0 0 3 47 0 13 0 5.522551e-01 0 25 0 13 2 0 0 0 0 0 2 1 0.812596 3 47 0 12 2 0 0 0 0 13 2 -7.311756 1 1 116534 15 34 1 1 2 3 2.077619 0 0.420000 1.870000 0.422426 0.330000 9.000000e-02 0.810000 0.290000 0.364061 0.330000 0 1.800000e-01 5.300000e-01 JPH3 57338 broad.mit.edu 37 16 87636931 87636931 + Missense_Mutation SNP C C A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr16:87636931C>A ENST00000284262.2 + 1 421 c.179C>A c.(178-180)aCg>aAg p.T60K RP11-482M8.3_ENST00000602388.1_RNA NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 30 AGCGGCAACACGTACCAGGGC 0.677000 0 SO:0001583 missense ENST00000284262.2 0 1 hg19 CCDS10962.1 . . . . . . . . . . C 20.8 4.048418 0.75846 . . ENSG00000154118 ENST00000301008;ENST00000284262 T 0.55930 0.49 4.07 4.07 0.47477 . 0.177447 0.47852 D 0.000213 T 0.40670 0.1126 N 0.04787 -0.16 0.58432 D 0.999998 B 0.22851 0.076 B 0.39771 0.309 T 0.38520 -0.9657 10 0.30854 T 0.27 . 15.2272 0.73359 0.0:1.0:0.0:0.0 . 60 Q8WXH2 JPH3_HUMAN K 60 ENSP00000284262:T60K ENSP00000284262:T60K T + 2 0 JPH3 86194432 1.000000 0.71417 1.000000 0.80357 0.958000 0.62258 1.759000 0.38420 1.800000 0.52685 0.462000 0.41574 ACG TCGA-US-A77G-01A-11D-A32N-08 JPH3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269108.2 0 0 0 5 163 0 48 0 0 0 1 0 48 2 0 0 0 0 0 2 0 0.931268 0 161 0 48 2 0 0 0 0 48 2 -7.799874 1 0 0 0 1 1 2 3 2.061710 0 0.420000 1.870000 0.421215 0.150000 5.000000e-02 0.320000 0.140000 0.167051 0.150000 0 9.000000e-02 2.300000e-01 MYO1D 4642 broad.mit.edu 37 17 31082528 31082528 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr17:31082528G>A ENST00000318217.5 - 11 1753 c.1449C>T c.(1447-1449)gcC>gcT p.A483A MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000394649.4_Silent_p.A395A|MYO1D_ENST00000579584.1_Silent_p.A483A NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) TGGAAAAATGGGCGTGTTTGC 0.393000 0 SO:0001819 synonymous_variant ENST00000318217.5 1 1 hg19 CCDS32615.1 TCGA-US-A77G-01A-11D-A32N-08 MYO1D-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000447457.1 0 0 0 15 399 0 80 1 9.531356e-01 7 132 0 80 2 0 0 0 0 0 2 1 0.999865 15 394 0 79 2 0 0 0 0 80 2 -3.695217 1 0 0 0 1 1 2 3 2.072926 0 0.420000 1.870000 0.422426 0.170000 9.000000e-02 0.290000 0.180000 0.191313 0.170000 0 1.300000e-01 2.300000e-01 KRTAP3-1 83896 broad.mit.edu 37 17 39165249 39165249 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr17:39165249G>A ENST00000391588.1 - 1 117 c.78C>T c.(76-78)tgC>tgT p.C26C KRTAP3-1_ENST00000581033.1_5'UTR NM_031958.1 NP_114164.1 Q9BYR8 KRA31_HUMAN keratin associated protein 3-1 8 Breast(137;0.00043) CTCCACAGCGGCAGCTTTTAT 0.592000 0 SO:0001819 synonymous_variant ENST00000391588.1 0 1 hg19 CCDS32645.1 TCGA-US-A77G-01A-11D-A32N-08 KRTAP3-1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257699.1 0 0 0 5 539 0 102 0 0 0 0 102 2 0 0 0 0 0 2 1 0.933107 5 524 0 100 2 0 0 0 0 102 2 -3.103783 1 1 0 0 1 1 2 3 2.072926 0 0.420000 1.870000 0.422426 0.040000 0 0.110000 0.040000 0.061580 0.040000 0 2.000000e-02 8.000000e-02 DHX8 1659 broad.mit.edu 37 17 41601211 41601211 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr17:41601211G>A ENST00000262415.3 + 23 3731 c.3659G>A c.(3658-3660)cGc>cAc p.R1220H DHX8_ENST00000540306.1_Intron NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 42 Breast(137;0.00908) TTCCGACGGCGCTGAAAGGCA 0.517000 NSCLC(56;1548 1661 49258 49987) 0 SO:0001583 missense ENST00000262415.3 0 1 hg19 CCDS11464.1 . . . . . . . . . . G 19.20 3.780753 0.70222 . . ENSG00000067596 ENST00000262415 T 0.03801 3.8 6.16 5.2 0.72013 . 0.000000 0.85682 D 0.000000 T 0.09686 0.0238 L 0.36672 1.1 0.58432 D 0.999999 D 0.71674 0.998 P 0.52481 0.7 T 0.03423 -1.1038 10 0.87932 D 0 . 14.6997 0.69147 0.0688:0.0:0.9312:0.0 . 1220 Q14562 DHX8_HUMAN H 1220 ENSP00000262415:R1220H ENSP00000262415:R1220H R + 2 0 DHX8 38956737 1.000000 0.71417 1.000000 0.80357 0.037000 0.13140 9.841000 0.99482 1.628000 0.50416 -0.145000 0.13849 CGC TCGA-US-A77G-01A-11D-A32N-08 DHX8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000453485.1 0 0 0 4 208 0 42 0 5.900968e-01 0 93 0 42 2 0 0 0 0 0 2 1 0.888951 4 206 0 41 2 0 0 0 0 42 2 -3.290682 1 1 121412 1 28 1 1 2 3 2.072926 0 0.420000 1.870000 0.422426 0.090000 2.000000e-02 0.240000 0.090000 0.119707 0.090000 0 5.000000e-02 1.600000e-01 USP43 124739 broad.mit.edu 37 17 9631939 9631939 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr17:9631939G>A ENST00000285199.7 + 15 3100 c.3004G>A c.(3004-3006)Gtg>Atg p.V1002M USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.V997M NM_001267576.1|NM_153210.4 NP_001254505.1|NP_694942.3 Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 26 TCTGAGGTCCGTGTTTCGGAA 0.602000 0 SO:0001583 missense ENST00000285199.7 0 1 hg19 CCDS45610.1 . . . . . . . . . . G 6.121 0.390479 0.11581 . . ENSG00000154914 ENST00000285199 T 0.10192 2.9 5.24 -0.892 0.10570 . 7.908350 0.00166 N 0.000002 T 0.10723 0.0262 L 0.57536 1.79 0.18873 N 0.999985 B;P;B;P 0.42757 0.297;0.668;0.297;0.789 B;B;B;B 0.27500 0.023;0.055;0.023;0.08 T 0.46162 -0.9211 10 0.51188 T 0.08 -12.3583 8.6472 0.34013 0.4535:0.0:0.5465:0.0 . 997;691;1002;514 B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2 .;.;UBP43_HUMAN;. M 1002 ENSP00000285199:V1002M ENSP00000285199:V1002M V + 1 0 USP43 9572664 0.014000 0.17966 0.378000 0.26068 0.003000 0.03518 0.017000 0.13399 -0.027000 0.13873 -0.768000 0.03414 GTG TCGA-US-A77G-01A-11D-A32N-08 USP43-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000439855.3 0 0 0 4 195 0 61 0 5.136861e-02 0 14 0 61 2 0 0 0 0 0 2 1 0.891223 4 195 0 61 2 0 0 0 0 61 2 -3.861965 1 1 0 0 1 0 1 1 1.648062 1 0.420000 1.870000 0.265823 0.080000 2.000000e-02 0.180000 0.080000 0.092279 0.080000 0 4.000000e-02 1.300000e-01 PSG7 5676 broad.mit.edu 37 19 43433639 43433639 + RNA SNP G G T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr19:43433639G>T ENST00000406070.2 - 0 760 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) Prostate(69;0.00682) GCACTCACTGGGTTCCGTATT 0.507000 0 ENST00000406070.2 1 1 hg19 TCGA-US-A77G-01A-11D-A32N-08 PSG7-001 KNOWN basic polymorphic_pseudogene polymorphic_pseudogene OTTHUMT00000321431.2 0 0 0 380 1508 0 429 0 0 0 0 429 2 0 0 0 0 0 2 1 1.000000 366 1427 0 439 2 0 0 0 0 429 2 -20.000000 1 1 121348 1 40 1 1 2 3 2.102128 0 0.420000 1.870000 0.427217 0.960000 8.700000e-01 1.000000 1.000000 0.965739 0.960000 1 9.200000e-01 1 KCNA7 3743 broad.mit.edu 37 19 49573549 49573549 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr19:49573549G>A ENST00000221444.1 - 2 1497 c.1142C>T c.(1141-1143)gCg>gTg p.A381V NM_031886.2 NP_114092.2 Q96RP8 KCNA7_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 7 11 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) Dalfampridine(DB06637) CAGCACGCCCGCAATGGCACA 0.557000 Colon(74;686 1235 3793 23366 48562) 0 SO:0001583 missense ENST00000221444.1 0 1 hg19 CCDS12755.1 . . . . . . . . . . G 27.8 4.862088 0.91511 . . ENSG00000104848 ENST00000221444 D 0.98313 -4.86 4.65 4.65 0.58169 Ion transport (1); 0.000000 0.85682 D 0.000000 D 0.97096 0.9051 L 0.48260 1.515 0.80722 D 1 D 0.60575 0.988 P 0.47251 0.542 D 0.97729 1.0201 10 0.72032 D 0.01 . 16.6617 0.85242 0.0:0.0:1.0:0.0 . 381 Q96RP8 KCNA7_HUMAN V 381 ENSP00000221444:A381V ENSP00000221444:A381V A - 2 0 KCNA7 54265361 1.000000 0.71417 0.982000 0.44146 0.872000 0.50106 9.860000 0.99555 2.321000 0.78463 0.491000 0.48974 GCG TCGA-US-A77G-01A-11D-A32N-08 KCNA7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466263.1 0 0 0 4 197 0 57 0 0 0 0 57 2 0 0 0 0 0 2 1 0.891217 4 197 0 56 2 0 0 0 0 57 2 -3.365417 1 1 121412 1 31 1 0 1 1 1.714791 1 0.420000 1.870000 0.265823 0.080000 2.000000e-02 0.180000 0.070000 0.091382 0.080000 0 4.000000e-02 1.300000e-01 C3 718 broad.mit.edu 37 19 6719298 6719298 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr19:6719298C>T ENST00000245907.6 - 2 283 c.191G>A c.(190-192)gGc>gAc p.G64D NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 72 Intravenous Immunoglobulin(DB00028) TAGTTTTTTGCCTGGGAAGTC 0.592000 0 SO:0001583 missense ENST00000245907.6 0 1 hg19 CCDS32883.1 . . . . . . . . . . C 7.629 0.678519 0.14841 . . ENSG00000125730 ENST00000245907 T 0.79845 -1.31 4.87 -9.75 0.00506 . 2.754490 0.01396 N 0.013408 T 0.60209 0.2251 N 0.22421 0.69 0.09310 N 1 B 0.26318 0.146 B 0.28709 0.093 T 0.51957 -0.8639 10 0.11794 T 0.64 . 3.9794 0.09489 0.0806:0.3674:0.1424:0.4095 . 64 P01024 CO3_HUMAN D 64 ENSP00000245907:G64D ENSP00000245907:G64D G - 2 0 C3 6670298 0.000000 0.05858 0.001000 0.08648 0.154000 0.21943 -1.181000 0.03085 -1.444000 0.01950 0.305000 0.20034 GGC TCGA-US-A77G-01A-11D-A32N-08 C3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317636.2 0 0 0 6 687 0 132 0 4.766381e-01 0 166 0 132 2 0 0 0 0 0 2 1 0.964606 6 684 0 131 2 0 0 0 0 132 2 -2.381119 0 1 0 0 1 1 2 3 2.100189 0 0.420000 1.870000 0.427217 0.040000 0 1.000000 0.040000 0.093086 0.040000 0 2.000000e-02 7.000000e-02 ANKRD34A 284615 broad.mit.edu 37 1 145474624 145474624 + Silent SNP C C A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:145474624C>A ENST00000323397.4 + 4 2589 c.1296C>A c.(1294-1296)ccC>ccA p.P432P LIX1L_ENST00000369308.3_5'Flank|RP11-315I20.1_ENST00000600340.1_RNA NM_001039888.2 NP_001034977.1 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34A 20 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ACGTCAGTCCCCACCCTCCCA 0.687000 0 SO:0001819 synonymous_variant ENST00000323397.4 0 1 hg19 CCDS30829.1 TCGA-US-A77G-01A-11D-A32N-08 ANKRD34A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000038512.1 0 0 0 4 210 0 28 0 1.879019e-03 0 3 0 28 2 0 0 0 0 0 2 1 0.883199 4 203 0 28 2 0 0 0 0 28 2 -3.564516 1 1 0 0 1 0 2 2 2.236663 1 0.420000 1.870000 0.420000 0.090000 2.000000e-02 0.210000 0.090000 0.109494 0.090000 0 5.000000e-02 1.500000e-01 PADI3 51702 broad.mit.edu 37 1 17593248 17593248 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:17593248G>A ENST00000375460.3 + 5 483 c.443G>A c.(442-444)gGc>gAc p.G148D NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) L-Citrulline(DB00155) GGGTATGGCGGCATCTTGCTG 0.597000 0 SO:0001583 missense ENST00000375460.3 0 1 hg19 CCDS179.1 . . . . . . . . . . G 17.32 3.359635 0.61403 . . ENSG00000142619 ENST00000375460 T 0.14266 2.52 5.15 4.23 0.50019 Protein-arginine deiminase (PAD), central domain (2); 0.052990 0.85682 D 0.000000 T 0.10423 0.0255 N 0.08118 0 0.38404 D 0.945756 P 0.38335 0.627 B 0.42112 0.376 T 0.27226 -1.0080 10 0.87932 D 0 -23.3232 14.4617 0.67453 0.0:0.8491:0.1509:0.0 . 148 Q9ULW8 PADI3_HUMAN D 148 ENSP00000364609:G148D ENSP00000364609:G148D G + 2 0 PADI3 17465835 1.000000 0.71417 0.661000 0.29709 0.848000 0.48234 5.229000 0.65316 1.169000 0.42739 -0.270000 0.10280 GGC TCGA-US-A77G-01A-11D-A32N-08 PADI3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000006805.1 0 0 0 5 478 0 120 0 0 0 0 120 2 0 0 0 0 0 2 1 0.934712 5 470 0 119 2 0 0 0 0 120 2 -2.498435 0 1 0 0 1 1 2 3 2.073686 0 0.420000 1.870000 0.422426 0.050000 1.000000e-02 0.120000 0.050000 0.068156 0.050000 0 2.000000e-02 8.000000e-02 TRIM67 440730 broad.mit.edu 37 1 231339743 231339743 + Silent SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:231339743C>T ENST00000366653.5 + 6 1665 c.1665C>T c.(1663-1665)gcC>gcT p.A555A TRIM67_ENST00000449018.3_Silent_p.A493A|TRIM67_ENST00000366652.2_Silent_p.A555A|TRIM67_ENST00000444294.3_Silent_p.A553A Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) ACGACGGTGCCGGGGGACAGT 0.627000 0 SO:0001819 synonymous_variant ENST00000366653.5 1 1 hg19 CCDS44333.1 TCGA-US-A77G-01A-11D-A32N-08 TRIM67-001 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000092649.3 1 0 1 32 241 0 56 0 0 0 0 56 2 0 0 0 0 0 2 1 1.000000 32 240 0 56 2 0 0 0 0 56 2 -3.142781 1 1 120994 6 38 1 1 2 3 2.247887 1 0.420000 1.870000 0.467010 0.650000 4.300000e-01 1.000000 0.600000 0.709099 0.650000 0 5.300000e-01 1 ACOT7 11332 broad.mit.edu 37 1 6409894 6409894 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr1:6409894C>T ENST00000377855.2 - 2 352 c.206G>A c.(205-207)gGc>gAc p.G69D ACOT7_ENST00000545482.1_Intron|ACOT7_ENST00000377842.3_Missense_Mutation_p.G18D|ACOT7_ENST00000608083.1_Missense_Mutation_p.G27D|ACOT7_ENST00000361521.4_Missense_Mutation_p.G59D|ACOT7_ENST00000377845.3_Missense_Mutation_p.G39D|ACOT7_ENST00000541130.1_Missense_Mutation_p.G39D NM_181864.2 NP_863654.1 O00154 BACH_HUMAN acyl-CoA thioesterase 7 16 Ovarian(185;0.0634)|all_lung(157;0.175) all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) GTGGACATTGCCGGCCACGTT 0.592000 GBM(74;673 1226 4974 11850 13190) 0 SO:0001583 missense ENST00000377855.2 0 1 hg19 CCDS65.1 . . . . . . . . . . C 29.3 4.993767 0.93167 . . ENSG00000097021 ENST00000377855;ENST00000377845;ENST00000377842;ENST00000361521;ENST00000541130 T;T;T;T;T 0.51817 0.69;0.69;0.69;0.69;0.69 4.48 4.48 0.54585 Thioesterase superfamily (1); 0.000000 0.85682 D 0.000000 T 0.67896 0.2942 M 0.75085 2.285 0.53688 D 0.999974 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 0.995;0.991;1.0;0.987 T 0.72327 -0.4327 10 0.72032 D 0.01 . 14.7432 0.69472 0.0:1.0:0.0:0.0 . 59;69;39;18 B3KQ12;O00154;O00154-5;O00154-6 .;BACH_HUMAN;.;. D 69;39;18;59;39 ENSP00000367086:G69D;ENSP00000367076:G39D;ENSP00000367073:G18D;ENSP00000354615:G59D;ENSP00000441872:G39D ENSP00000354615:G59D G - 2 0 ACOT7 6332481 1.000000 0.71417 0.985000 0.45067 0.996000 0.88848 7.065000 0.76727 2.349000 0.79799 0.650000 0.86243 GGC TCGA-US-A77G-01A-11D-A32N-08 ACOT7-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000003773.1 0 0 0 5 259 0 57 0 5.332093e-01 0 84 0 57 2 0 0 0 0 0 2 1 0.936240 5 256 0 57 2 0 0 0 0 57 2 -3.555150 1 1 0 0 1 1 2 3 2.088200 0 0.420000 1.870000 0.424831 0.090000 3.000000e-02 1.000000 0.090000 0.133444 0.090000 0 6.000000e-02 1.600000e-01 PREX1 57580 broad.mit.edu 37 20 47247332 47247332 + Splice_Site SNP C C A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr20:47247332C>A ENST00000371941.3 - 36 4549 c.4527G>T c.(4525-4527)agG>agT p.R1509S PREX1_ENST00000396220.1_Splice_Site_p.G1544V NM_020820.3 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GGTAAAATGCCCTGCGAGAGA 0.622000 0 SO:0001630 splice_region_variant ENST00000371941.3 1 0 hg19 CCDS13410.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 9.592|9.592 1.126450|1.126450 0.20959|0.20959 .|. .|. ENSG00000124126|ENSG00000124126 ENST00000396220|ENST00000371941 T|T 0.62941|0.65732 -0.01|-0.17 4.32|4.32 4.32|4.32 0.51571|0.51571 .|. .|0.000000 .|0.64402 .|U .|0.000010 T|T 0.71643|0.71643 0.3364|0.3364 M|M 0.71581|0.71581 2.175|2.175 0.48040|0.48040 D|D 0.999579|0.999579 .|D;D .|0.58620 .|0.971;0.983 .|P;P .|0.57324 .|0.78;0.818 T|T 0.75428|0.75428 -0.3321|-0.3321 7|10 0.87932|0.87932 D|D 0|0 .|. 10.5481|10.5481 0.45072|0.45072 0.0:0.9103:0.0:0.0897|0.0:0.9103:0.0:0.0897 .|. .|1509;806 .|Q8TCU6;Q8TCU6-2 .|PREX1_HUMAN;. V|S 1544|1509 ENSP00000379522:G1544V|ENSP00000361009:R1509S ENSP00000379522:G1544V|ENSP00000361009:R1509S G|R -|- 2|3 0|2 PREX1|PREX1 46680739|46680739 1.000000|1.000000 0.71417|0.71417 0.974000|0.974000 0.42286|0.42286 0.439000|0.439000 0.31926|0.31926 3.607000|3.607000 0.54102|0.54102 1.974000|1.974000 0.57490|0.57490 0.558000|0.558000 0.71614|0.71614 GGG|AGG TCGA-US-A77G-01A-11D-A32N-08 PREX1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000079623.1 1 0 1 70 227 0 59 0 7.219600e-01 0 10 0 59 2 0 0 0 0 0 2 1 1.000000 70 222 0 59 2 0 0 0 0 59 2 -4.544402 1 1 0 0 1 0 0 0 2.025145 0 0.420000 1.870000 0.410090 0.990000 8.800000e-01 1.000000 1.000000 0.989745 0.990000 1 9.800000e-01 1 MC3R 4159 broad.mit.edu 37 20 54824819 54824819 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr20:54824819G>A ENST00000243911.2 + 1 1032 c.920G>A c.(919-921)cGc>cAc p.R307H NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 26 Colorectal(105;0.202) CTGGAATTGCGCAACACCTTT 0.517000 0 SO:0001583 missense ENST00000243911.2 0 1 hg19 CCDS13449.2 . . . . . . . . . . G 17.98 3.520625 0.64747 . . ENSG00000124089 ENST00000243911 T 0.58358 0.34 5.09 5.09 0.68999 . 0.000000 0.64402 D 0.000014 D 0.82917 0.5141 H 0.97440 4.005 0.51767 D 0.99993 D 0.89917 1.0 D 0.83275 0.996 D 0.89536 0.3789 10 0.87932 D 0 . 18.1096 0.89530 0.0:0.0:1.0:0.0 . 344 P41968 MC3R_HUMAN H 307 ENSP00000243911:R307H ENSP00000243911:R307H R + 2 0 MC3R 54258226 1.000000 0.71417 0.990000 0.47175 0.182000 0.23217 9.731000 0.98807 2.362000 0.80069 0.555000 0.69702 CGC TCGA-US-A77G-01A-11D-A32N-08 MC3R-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079786.2 0 0 0 7 810 0 152 0 0 0 0 152 2 0 0 0 0 0 2 1 0.980208 7 805 0 152 2 0 0 0 0 152 2 -1.752984 0 1 0 0 1 0 0 0 2.025145 0 0.420000 1.870000 0.410090 0.030000 0 0.080000 0.040000 0.045718 0.030000 0 2.000000e-02 6.000000e-02 PATZ1 23598 broad.mit.edu 37 22 31740473 31740473 + Silent SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr22:31740473C>T ENST00000266269.5 - 1 1745 c.1116G>A c.(1114-1116)cgG>cgA p.R372R PATZ1_ENST00000215919.3_Silent_p.R372R|AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000405309.3_Silent_p.R372R|PATZ1_ENST00000351933.4_Silent_p.R372R NM_014323.2 NP_055138.2 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 p.R372R(2) EWSR1/PATZ1(2) 12 ACAGCTTGTGCCGGTTAAGAT 0.582000 2 Substitution - coding silent(2) SO:0001819 synonymous_variant ENST00000266269.5 0 1 hg19 CCDS13894.1 TCGA-US-A77G-01A-11D-A32N-08 PATZ1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000321932.1 0 0 0 7 577 1 120 0 2.022992e-02 0 68 1 120 4 0 0 0 0 0 2 0 0.028322 7 569 1 117 17 0 0 0 1 120 2 -1.944095 0 1 121412 1 32 1 0 0 0 2.045565 0 0.420000 1.870000 0.417554 0.050000 2.000000e-02 0.110000 0.060000 0.064621 0.050000 0 3.000000e-02 9.000000e-02 CYTH4 27128 broad.mit.edu 37 22 37707094 37707094 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr22:37707094G>A ENST00000248901.6 + 10 1061 c.874G>A c.(874-876)Gag>Aag p.E292K NM_013385.3 NP_037517.1 Q9UIA0 CYH4_HUMAN cytohesin 4 15 CTACTACTTCGAGTTCACCAC 0.612000 0 SO:0001583 missense ENST00000248901.6 1 1 hg19 CCDS13946.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 16.46|16.46 3.130571|3.130571 0.56828|0.56828 .|. .|. ENSG00000100055|ENSG00000100055 ENST00000248901|ENST00000446506 T|. 0.72725|. -0.68|. 4.7|4.7 4.7|4.7 0.59300|0.59300 Pleckstrin homology-type (1);Pleckstrin homology domain (3);|. 0.054141|. 0.64402|. D|. 0.000001|. T|T 0.46092|0.46092 0.1375|0.1375 N|N 0.10972|0.10972 0.075|0.075 0.80722|0.80722 D|D 1|1 P|. 0.40211|. 0.707|. B|. 0.32583|. 0.148|. T|T 0.41680|0.41680 -0.9495|-0.9495 10|5 0.31617|. T|. 0.26|. .|. 16.7637|16.7637 0.85519|0.85519 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 292|. Q9UIA0|. CYH4_HUMAN|. K|Q 292|44 ENSP00000248901:E292K|. ENSP00000248901:E292K|. E|R +|+ 1|2 0|0 CYTH4|CYTH4 36037040|36037040 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.962000|0.962000 0.63368|0.63368 7.751000|7.751000 0.85126|0.85126 2.309000|2.309000 0.77851|0.77851 0.655000|0.655000 0.94253|0.94253 GAG|CGA TCGA-US-A77G-01A-11D-A32N-08 CYTH4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318917.1 1 0 1 140 462 0 140 0 2.345171e-01 0 4 0 140 2 0 0 0 0 0 2 1 1.000000 135 458 0 138 2 0 0 0 0 140 2 -4.446789 1 1 121412 1 34 1 0 0 0 2.045565 0 0.420000 1.870000 0.417554 0.990000 9.400000e-01 1.000000 1.000000 0.996423 0.990000 1 9.900000e-01 1 ATG9A 79065 broad.mit.edu 37 2 220089227 220089227 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr2:220089227C>T ENST00000409618.1 - 8 1305 c.866G>A c.(865-867)cGc>cAc p.R289H ATG9A_ENST00000488833.1_5'Flank|ATG9A_ENST00000396761.2_Missense_Mutation_p.R289H|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000409422.1_Missense_Mutation_p.R228H|ATG9A_ENST00000361242.4_Missense_Mutation_p.R289H Q7Z3C6 ATG9A_HUMAN autophagy related 9A 13 Renal(207;0.0474) CCACAGGATGCGGTTGCTGAG 0.567000 0 SO:0001583 missense ENST00000409618.1 1 1 hg19 CCDS42820.1 . . . . . . . . . . C 15.15 2.749084 0.49257 . . ENSG00000198925 ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422 T;T;T;T 0.39592 1.51;1.51;1.51;1.07 5.31 5.31 0.75309 . 0.000000 0.85682 D 0.000000 T 0.58581 0.2132 L 0.46885 1.475 0.50632 D 0.999889 D 0.89917 1.0 D 0.68353 0.957 T 0.55915 -0.8065 10 0.42905 T 0.14 . 18.9912 0.92793 0.0:1.0:0.0:0.0 . 289 Q7Z3C6 ATG9A_HUMAN H 289;289;289;228 ENSP00000379983:R289H;ENSP00000386710:R289H;ENSP00000355173:R289H;ENSP00000386535:R228H ENSP00000355173:R289H R - 2 0 ATG9A 219797471 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 5.953000 0.70290 2.481000 0.83766 0.655000 0.94253 CGC TCGA-US-A77G-01A-11D-A32N-08 ATG9A-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335930.1 1 0 1 32 118 0 31 1 9.999971e-01 26 54 0 31 2 0 0 0 0 0 2 1 1.000000 32 118 0 30 2 0 0 0 0 31 2 -20.000000 1 1 121004 1 28 1 0 0 0 2.036806 0 0.420000 1.870000 0.415087 0.990000 7.200000e-01 1.000000 1.000000 0.945515 0.990000 1 8.500000e-01 1 GMPPA 29926 broad.mit.edu 37 2 220366590 220366590 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr2:220366590C>T ENST00000358215.3 + 5 629 c.260C>T c.(259-261)gCc>gTc p.A87V GMPPA_ENST00000313597.5_Missense_Mutation_p.A87V|GMPPA_ENST00000373917.3_Missense_Mutation_p.A87V|GMPPA_ENST00000341142.3_Missense_Mutation_p.A87V|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.A87V NM_205847.2 NP_995319.1 Q96IJ6 GMPPA_HUMAN GDP-mannose pyrophosphorylase A 20 Renal(207;0.0183) CAGGAATTTGCCCCCCTAGGC 0.592000 0 SO:0001583 missense ENST00000358215.3 0 1 hg19 CCDS2441.1 . . . . . . . . . . C 17.03 3.284479 0.59867 . . ENSG00000144591 ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000455657;ENST00000435316;ENST00000341142 D;D;D;D;T;T;D 0.93906 -3.31;-3.31;-3.31;-3.31;-0.7;-0.7;-3.31 4.68 3.8 0.43715 Nucleotidyl transferase (1); 0.270854 0.34338 N 0.004044 D 0.88548 0.6466 L 0.33093 0.98 0.40974 D 0.984729 B;P 0.37276 0.001;0.589 B;B 0.35727 0.008;0.209 D 0.87535 0.2455 10 0.54805 T 0.06 -29.327 12.5741 0.56354 0.0:0.9176:0.0:0.0824 . 87;87 Q96IJ6-2;Q96IJ6 .;GMPPA_HUMAN V 87;87;87;87;87;52;87 ENSP00000315925:A87V;ENSP00000363027:A87V;ENSP00000350949:A87V;ENSP00000363016:A87V;ENSP00000392465:A87V;ENSP00000411060:A52V;ENSP00000340760:A87V ENSP00000315925:A87V A + 2 0 GMPPA 220074834 1.000000 0.71417 0.984000 0.44739 0.993000 0.82548 5.950000 0.70265 0.967000 0.38186 0.561000 0.74099 GCC TCGA-US-A77G-01A-11D-A32N-08 GMPPA-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000130230.1 0 0 0 6 381 1 82 0 1.863027e-02 0 98 1 82 6 0 0 0 0 0 2 0 0.023214 6 379 1 82 16 0 0 0 1 82 2 -2.162292 0 1 0 0 1 0 0 0 2.036806 0 0.420000 1.870000 0.415087 0.070000 2.000000e-02 0.150000 0.080000 0.084670 0.070000 0 4.000000e-02 1.200000e-01 EFHD1 80303 broad.mit.edu 37 2 233546356 233546356 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr2:233546356G>A ENST00000264059.3 + 4 1124 c.647G>A c.(646-648)cGg>cAg p.R216Q snoU13_ENST00000459149.1_RNA|EFHD1_ENST00000409708.1_Missense_Mutation_p.R104Q|EFHD1_ENST00000409613.1_Missense_Mutation_p.R120Q|EFHD1_ENST00000410095.1_Missense_Mutation_p.R104Q NM_025202.3 NP_079478.1 Q9BUP0 EFHD1_HUMAN EF-hand domain family, member D1 7 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025) CAAGATGAGCGGAAGCGGGAG 0.542000 0 SO:0001583 missense ENST00000264059.3 0 1 hg19 CCDS2497.1 . . . . . . . . . . G 27.4 4.827702 0.90955 . . ENSG00000115468 ENST00000409613;ENST00000264059;ENST00000540187;ENST00000409708;ENST00000410095 T;T;T;T 0.38560 1.13;1.13;1.13;1.13 5.65 3.7 0.42460 . 0.332624 0.29715 N 0.011387 T 0.37376 0.1001 L 0.58302 1.8 0.58432 D 0.999998 P;P 0.44006 0.824;0.824 B;B 0.38156 0.121;0.266 T 0.34104 -0.9842 10 0.52906 T 0.07 -5.5142 11.0327 0.47783 0.0:0.14:0.7149:0.1451 . 120;216 E9PFH3;Q9BUP0 .;EFHD1_HUMAN Q 120;216;119;104;104 ENSP00000386556:R120Q;ENSP00000264059:R216Q;ENSP00000386243:R104Q;ENSP00000386685:R104Q ENSP00000264059:R216Q R + 2 0 EFHD1 233254600 1.000000 0.71417 0.998000 0.56505 0.997000 0.91878 1.562000 0.36353 1.362000 0.46000 0.586000 0.80456 CGG TCGA-US-A77G-01A-11D-A32N-08 EFHD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257040.2 0 0 0 5 557 1 122 0 1.924871e-02 0 19 1 122 2 0 0 0 0 0 2 0 0.011331 6 547 1 122 16 0 0 0 1 122 2 -2.455305 0 1 121412 3 40 1 0 0 0 2.031970 0 0.420000 1.870000 0.415087 0.040000 0 0.090000 0.040000 0.049979 0.040000 0 2.000000e-02 7.000000e-02 DNMT3A 1788 broad.mit.edu 37 2 25471001 25471001 + Missense_Mutation SNP C C T rs146110707 by1000genomes TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr2:25471001C>T ENST00000264709.3 - 7 1097 c.760G>A c.(760-762)Gca>Aca p.A254T DNMT3A_ENST00000380746.4_Missense_Mutation_p.A65T|DNMT3A_ENST00000402667.1_Missense_Mutation_p.A31T|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A254T NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGGGGGATGCGGGGTCAGTG 0.627000 Mis, F, N, S AML Rec yes 2 2p23 1788 DNA (cytosine-5-)-methyltransferase 3 alpha L 0 SO:0001583 missense ENST00000264709.3 0 1 hg19 CCDS33157.1 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 C 28.5 4.928743 0.92389 . . ENSG00000119772 ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667 D;D;D;D 0.93366 -3.21;-3.2;-3.2;-3.21 5.63 5.63 0.86233 . 0.000000 0.85682 D 0.000000 D 0.90242 0.6949 N 0.24115 0.695 0.80722 D 1 P;D 0.61080 0.846;0.989 B;P 0.46917 0.071;0.531 D 0.89436 0.3720 10 0.31617 T 0.26 -4.9539 18.2356 0.89948 0.0:1.0:0.0:0.0 . 254;65 Q9Y6K1;E9PEB8 DNM3A_HUMAN;. T 65;254;254;31 ENSP00000370122:A65T;ENSP00000324375:A254T;ENSP00000264709:A254T;ENSP00000384237:A31T ENSP00000264709:A254T A - 1 0 DNMT3A 25324505 1.000000 0.71417 0.319000 0.25293 0.901000 0.52897 7.054000 0.76649 2.653000 0.90120 0.563000 0.77884 GCA TCGA-US-A77G-01A-11D-A32N-08 DNMT3A-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000211587.1 0 0 0 8 505 0 108 0 2.263251e-02 0 13 0 108 2 0 0 0 0 0 2 1 0.989041 8 500 0 106 2 0 0 0 0 108 2 -2.001916 0 1 121412 1 28 1 0 0 0 2.044086 0 0.420000 1.870000 0.417554 0.070000 2.000000e-02 0.140000 0.080000 0.082646 0.070000 0 4.000000e-02 1.100000e-01 ASPRV1 151516 broad.mit.edu 37 2 70187919 70187919 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr2:70187919C>T ENST00000320256.4 - 1 1478 c.902G>A c.(901-903)cGc>cAc p.R301H PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA NM_152792.2 NP_690005.2 aspartic peptidase, retroviral-like 1 14 GGTGCATGTGCGGTGCTCAAA 0.557000 0 SO:0001583 missense ENST00000320256.4 0 1 hg19 CCDS1897.1 . . . . . . . . . . C 23.5 4.418130 0.83449 . . ENSG00000244617 ENST00000320256 T 0.51071 0.72 5.38 5.38 0.77491 . 0.000000 0.43110 D 0.000601 T 0.55130 0.1901 N 0.24115 0.695 0.38945 D 0.958225 D 0.89917 1.0 D 0.83275 0.996 T 0.60500 -0.7251 10 0.59425 D 0.04 -16.4374 14.6246 0.68611 0.0:1.0:0.0:0.0 . 301 Q53RT3 APRV1_HUMAN H 301 ENSP00000315383:R301H ENSP00000315383:R301H R - 2 0 ASPRV1 70041423 1.000000 0.71417 1.000000 0.80357 0.986000 0.74619 3.858000 0.55979 2.530000 0.85305 0.655000 0.94253 CGC TCGA-US-A77G-01A-11D-A32N-08 ASPRV1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000334161.1 0 0 0 8 832 1 162 0 3.370029e-03 0 8 1 162 2 0 0 0 0 0 2 0 0.033767 8 821 1 162 18 0 0 0 1 162 2 -2.114061 0 1 121412 1 31 1 0 0 0 2.044086 0 0.420000 1.870000 0.417554 0.040000 1.000000e-02 0.090000 0.040000 0.050736 0.040000 0 2.000000e-02 7.000000e-02 ATP2B2 491 broad.mit.edu 37 3 10417285 10417285 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:10417285G>A ENST00000352432.4 - 10 1314 c.1245C>T c.(1243-1245)taC>taT p.Y415Y ATP2B2_ENST00000397077.1_Silent_p.Y370Y|ATP2B2_ENST00000383800.4_Silent_p.Y370Y|ATP2B2_ENST00000360273.2_Silent_p.Y415Y|ATP2B2_ENST00000343816.4_Silent_p.Y401Y Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 74 CCACAGTGAAGTAGAGCACCA 0.557000 Ovarian(125;1619 1709 15675 19819 38835) 0 SO:0001819 synonymous_variant ENST00000352432.4 1 1 hg19 CCDS33701.1 TCGA-US-A77G-01A-11D-A32N-08 ATP2B2-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000250576.2 1 0 1 54 173 0 53 0 0 0 0 53 2 0 0 0 0 0 2 1 1.000000 54 171 0 53 2 0 0 0 0 53 2 -20.000000 1 1 0 0 1 0 0 0 2.047916 0 0.420000 1.870000 0.417554 0.990000 8.700000e-01 1.000000 1.000000 0.989672 0.990000 1 9.900000e-01 1 OXNAD1 92106 broad.mit.edu 37 3 16312479 16312479 + Missense_Mutation SNP T T G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 T G T T Valid Somatic Phase_I WXS RNA Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:16312479T>G ENST00000285083.5 + 3 485 c.20T>G c.(19-21)aTg>aGg p.M7R OXNAD1_ENST00000435829.2_Missense_Mutation_p.M25R|OXNAD1_ENST00000544043.1_Missense_Mutation_p.M25R|OXNAD1_ENST00000605932.1_Missense_Mutation_p.M7R|OXNAD1_ENST00000606098.1_Missense_Mutation_p.M7R NM_138381.3 NP_612390.1 Q96HP4 OXND1_HUMAN oxidoreductase NAD-binding domain containing 1 13 GCTGCTGTTATGATTCCTGGG 0.458000 0 SO:0001583 missense ENST00000285083.5 1 1 hg19 CCDS2630.1 . . . . . . . . . . T 10.50 1.366861 0.24771 . . ENSG00000154814 ENST00000285083;ENST00000435829;ENST00000544043 T;T;T 0.22134 2.29;1.97;2.25 5.07 2.62 0.31277 . 1.342610 0.04581 N 0.394909 T 0.21590 0.0520 L 0.36672 1.1 0.09310 N 1 B;B 0.22683 0.073;0.044 B;B 0.25405 0.06;0.027 T 0.36456 -0.9747 10 0.72032 D 0.01 -16.2189 9.2363 0.37468 0.0:0.0:0.3581:0.6419 . 25;7 F5H620;Q96HP4 .;OXND1_HUMAN R 7;7;25 ENSP00000285083:M7R;ENSP00000389872:M7R;ENSP00000437967:M25R ENSP00000285083:M7R M + 2 0 OXNAD1 16287483 0.009000 0.17119 0.002000 0.10522 0.181000 0.23173 0.823000 0.27366 0.377000 0.24735 -0.313000 0.08912 ATG TCGA-US-A77G-01A-11D-A32N-08 OXNAD1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000252109.1 1 0 1 155 587 0 134 1 9.914238e-01 15 15 0 134 2 0 0 0 0 0 2 1 1.000000 154 576 0 133 2 0 0 0 0 134 2 -20.000000 1 1 121412 1 36 1 0 0 0 2.047916 0 0.420000 1.870000 0.417554 0.980000 8.500000e-01 1.000000 1.000000 0.967673 0.980000 1 9.100000e-01 1 SCN5A 6331 broad.mit.edu 37 3 38639417 38639417 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:38639417G>A ENST00000333535.4 - 14 2214 c.2065C>T c.(2065-2067)Cgt>Tgt p.R689C SCN5A_ENST00000450102.2_Missense_Mutation_p.R689C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R689C|SCN5A_ENST00000413689.1_Missense_Mutation_p.R689C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R689C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R689C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R689C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R689C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R689C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R689C Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 107 Medulloblastoma(35;0.163) Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909) TGGGCGAGACGGTTCCAGCAT 0.532000 0 SO:0001583 missense ENST00000333535.4 1 1 hg19 CCDS46796.1 . . . . . . . . . . G 13.66 2.304276 0.40795 . . ENSG00000183873 ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557 D;D;D;D;D;D;D;D;D;D 0.96300 -3.88;-3.91;-3.91;-3.91;-3.91;-3.88;-3.91;-3.97;-3.91;-3.91 4.9 4.9 0.64082 . 1.137170 0.06183 N 0.679836 D 0.97785 0.9273 M 0.80183 2.485 0.44603 D 0.997576 D;D;D;D;D;D;D 0.71674 0.978;0.991;0.987;0.978;0.978;0.998;0.987 B;B;P;B;B;P;P 0.52710 0.328;0.328;0.528;0.328;0.328;0.707;0.528 D 0.94661 0.7848 10 0.87932 D 0 . 18.2549 0.90016 0.0:0.0:1.0:0.0 . 689;689;689;689;689;689;689 E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2 .;.;.;.;SCN5A_HUMAN;.;. C 689 ENSP00000398962:R689C;ENSP00000398266:R689C;ENSP00000410257:R689C;ENSP00000388797:R689C;ENSP00000397915:R689C;ENSP00000416634:R689C;ENSP00000328968:R689C;ENSP00000399524:R689C;ENSP00000403355:R689C;ENSP00000413996:R689C ENSP00000328968:R689C R - 1 0 SCN5A 38614421 0.134000 0.22483 0.982000 0.44146 0.405000 0.30901 1.004000 0.29822 2.563000 0.86464 0.491000 0.48974 CGT TCGA-US-A77G-01A-11D-A32N-08 SCN5A-014 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000377958.1 1 0 1 68 318 0 91 0 0 0 0 91 2 0 0 0 0 0 2 1 1.000000 68 315 0 91 2 0 0 0 0 91 2 -2.980424 1 1 121132 2 34 1 0 0 0 2.047916 0 0.420000 1.870000 0.417554 0.830000 6.600000e-01 1.000000 1.000000 0.838319 0.830000 0 7.400000e-01 9.300000e-01 PTPN23 25930 broad.mit.edu 37 3 47452686 47452686 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:47452686C>T ENST00000265562.4 + 20 3475 c.3398C>T c.(3397-3399)tCt>tTt p.S1133F PTPN23_ENST00000431726.1_Missense_Mutation_p.S1007F NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 23 GGCACTCAGTCTCCTGGGGGT 0.711000 0 SO:0001583 missense ENST00000265562.4 1 1 hg19 CCDS2754.1 . . . . . . . . . . C 13.01 2.109780 0.37242 . . ENSG00000076201 ENST00000265562 T 0.02631 4.22 5.3 4.37 0.52481 . 0.135690 0.49916 D 0.000126 T 0.02083 0.0065 N 0.08118 0 0.22701 N 0.998834 B;B 0.06786 0.001;0.001 B;B 0.04013 0.001;0.001 T 0.48736 -0.9009 10 0.33141 T 0.24 -6.0248 14.322 0.66491 0.0:0.8504:0.1496:0.0 . 1007;1133 B4DST5;Q9H3S7 .;PTN23_HUMAN F 1133 ENSP00000265562:S1133F ENSP00000265562:S1133F S + 2 0 PTPN23 47427690 1.000000 0.71417 1.000000 0.80357 0.774000 0.43823 2.033000 0.41136 2.468000 0.83385 0.563000 0.77884 TCT TCGA-US-A77G-01A-11D-A32N-08 PTPN23-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257492.2 1 0 0 23 80 0 30 1 9.999977e-01 31 54 0 30 2 0 0 0 0 0 2 1 1.000000 23 80 0 29 2 0 0 0 0 30 2 -20.000000 1 1 0 0 1 0 0 0 2.047916 0 0.420000 1.870000 0.417554 0.990000 7.100000e-01 1.000000 1.000000 0.954746 0.990000 1 8.700000e-01 1 DNAH1 25981 broad.mit.edu 37 3 52383089 52383089 + Silent SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr3:52383089C>T ENST00000420323.2 + 13 2553 c.2292C>T c.(2290-2292)tcC>tcT p.S764S NM_015512.4 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 62 ACATTGCCTCCTTTCTCAAGT 0.577000 0 SO:0001819 synonymous_variant ENST00000420323.2 1 1 hg19 CCDS46842.1 TCGA-US-A77G-01A-11D-A32N-08 DNAH1-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350816.1 1 0 1 52 190 0 55 1 2.988486e-01 4 1 0 55 2 0 0 0 0 0 2 1 1.000000 52 189 0 54 2 0 0 0 0 55 2 -3.802473 1 1 0 0 1 0 0 0 2.047916 0 0.420000 1.870000 0.417554 0.990000 7.800000e-01 1.000000 1.000000 0.961789 0.990000 1 8.900000e-01 1 PCDH18 54510 broad.mit.edu 37 4 138449640 138449640 + Missense_Mutation SNP A A T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr4:138449640A>T ENST00000344876.4 - 3 3118 c.2732T>A c.(2731-2733)aTt>aAt p.I911N PCDH18_ENST00000507846.1_Missense_Mutation_p.I690N|PCDH18_ENST00000511115.1_Missense_Mutation_p.I91N|PCDH18_ENST00000412923.2_Missense_Mutation_p.I910N|PCDH18_ENST00000510305.1_Missense_Mutation_p.I122N NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 86 all_hematologic(180;0.24) ACCTGCTGGAATTCTTCCATC 0.403000 0 SO:0001583 missense ENST00000344876.4 1 1 hg19 CCDS34064.1 . . . . . . . . . . A 14.02 2.410409 0.42715 . . ENSG00000189184 ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115 T;T;T;T;T 0.52754 0.74;0.74;0.65;1.57;1.57 5.56 4.38 0.52667 . 0.000000 0.43747 D 0.000521 T 0.37571 0.1008 L 0.40543 1.245 0.34420 D 0.697313 B;B;B;B 0.10296 0.003;0.0;0.001;0.001 B;B;B;B 0.08055 0.003;0.0;0.001;0.0 T 0.42327 -0.9458 10 0.28530 T 0.3 . 11.4281 0.50022 0.9295:0.0:0.0705:0.0 . 91;690;910;911 B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0 .;.;.;PCD18_HUMAN N 911;910;690;122;91 ENSP00000355082:I911N;ENSP00000390688:I910N;ENSP00000425903:I690N;ENSP00000424269:I122N;ENSP00000425647:I91N ENSP00000355082:I911N I - 2 0 PCDH18 138669090 1.000000 0.71417 0.993000 0.49108 0.987000 0.75469 6.178000 0.71968 0.943000 0.37553 0.533000 0.62120 ATT TCGA-US-A77G-01A-11D-A32N-08 PCDH18-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000364614.1 1 0 1 191 730 0 171 0 3.642832e-01 0 6 0 171 2 0 0 0 0 0 2 1 1.000000 186 715 0 170 2 0 0 0 0 171 2 -20.000000 1 1 0 0 1 1 2 3 2.070103 0 0.420000 1.870000 0.422426 0.980000 8.600000e-01 1.000000 1.000000 0.971106 0.980000 1 9.200000e-01 1 TLR1 7096 broad.mit.edu 37 4 38799732 38799732 + Nonsense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr4:38799732G>A ENST00000502213.2 - 3 950 c.721C>T c.(721-723)Caa>Taa p.Q241* TLR1_ENST00000308979.2_Nonsense_Mutation_p.Q241* Q15399 TLR1_HUMAN toll-like receptor 1 28 GGATTTGTTTGAAGTTTCGCC 0.348000 GBM(5;216 373 40795 46382) 0 SO:0001587 stop_gained ENST00000502213.2 0 1 hg19 CCDS33973.1 . . . . . . . . . . G 19.29 3.798266 0.70567 . . ENSG00000174125 ENST00000308979;ENST00000502213 . . . 4.69 0.633 0.17712 . 1.133800 0.06641 N 0.761075 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.28530 T 0.3 . 9.2911 0.37786 0.0:0.11:0.2678:0.6222 . . . . X 241 . ENSP00000354932:Q241X Q - 1 0 TLR1 38476127 0.050000 0.20438 0.077000 0.20336 0.001000 0.01503 0.818000 0.27295 0.259000 0.21709 -0.169000 0.13324 CAA TCGA-US-A77G-01A-11D-A32N-08 TLR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000360510.3 1 0 1 49 164 0 36 1 3.307641e-01 2 3 0 36 2 0 0 0 0 0 2 1 1.000000 48 162 0 36 2 0 0 0 0 36 2 -20.000000 1 1 0 0 1 0 0 0 2.055408 0 0.420000 1.870000 0.420000 0.990000 8.300000e-01 1.000000 1.000000 0.982638 0.990000 1 9.500000e-01 1 TMPRSS11E 28983 broad.mit.edu 37 4 69337338 69337338 + Missense_Mutation SNP A A G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr4:69337338A>G ENST00000305363.4 + 5 551 c.487A>G c.(487-489)Aaa>Gaa p.K163E NM_014058.3 NP_054777.2 Q9UL52 TM11E_HUMAN transmembrane protease, serine 11E 24 AGTTAAAATTAAAAGTAAGTT 0.308000 0 SO:0001583 missense ENST00000305363.4 1 1 hg19 CCDS33993.1 . . . . . . . . . . A 8.476 0.858592 0.17178 . . ENSG00000087128 ENST00000305363 T 0.31769 1.48 5.83 5.83 0.93111 . 0.391906 0.21879 N 0.067776 T 0.19765 0.0475 L 0.27053 0.805 0.31370 N 0.680243 P 0.37781 0.608 B 0.35413 0.202 T 0.09662 -1.0664 10 0.10111 T 0.7 . 12.5838 0.56406 1.0:0.0:0.0:0.0 . 163 Q9UL52 TM11E_HUMAN E 163 ENSP00000307519:K163E ENSP00000307519:K163E K + 1 0 TMPRSS11E 69019933 1.000000 0.71417 1.000000 0.80357 0.021000 0.10359 3.137000 0.50562 2.229000 0.72834 0.482000 0.46254 AAA TCGA-US-A77G-01A-11D-A32N-08 TMPRSS11E-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000360584.1 1 0 1 102 468 0 77 0 0 0 0 77 2 0 0 0 0 0 2 1 1.000000 101 462 0 77 2 0 0 0 0 77 2 -20.000000 1 1 0 0 1 0 0 0 2.055408 0 0.420000 1.870000 0.420000 0.840000 7.000000e-01 1.000000 0.850000 0.854301 0.840000 0 7.700000e-01 9.300000e-01 SLC6A18 348932 broad.mit.edu 37 5 1244416 1244416 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:1244416C>T ENST00000324642.3 + 10 1547 c.1424C>T c.(1423-1425)gCc>gTc p.A475V SLC6A18_ENST00000296821.4_Missense_Mutation_p.A373V NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GACAATTTTGCCGCTTCCCCG 0.582000 0 SO:0001583 missense ENST00000324642.3 0 1 hg19 CCDS3860.1 . . . . . . . . . . C 12.56 1.975383 0.34848 . . ENSG00000164363 ENST00000324642;ENST00000296821 T;T 0.76578 -1.03;-1.03 4.87 -1.66 0.08265 . 0.373560 0.27126 N 0.020814 T 0.58177 0.2104 N 0.21617 0.685 0.09310 N 1 B 0.16802 0.019 B 0.15052 0.012 T 0.49341 -0.8950 10 0.87932 D 0 . 5.9492 0.19235 0.0:0.3423:0.141:0.5167 . 475 Q96N87 S6A18_HUMAN V 475;373 ENSP00000323549:A475V;ENSP00000296821:A373V ENSP00000296821:A373V A + 2 0 SLC6A18 1297416 0.226000 0.23696 0.000000 0.03702 0.001000 0.01503 0.643000 0.24750 -0.361000 0.08125 -1.036000 0.02392 GCC TCGA-US-A77G-01A-11D-A32N-08 SLC6A18-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000206728.3 0 0 0 6 677 0 112 0 0 0 0 112 2 0 0 0 0 0 2 1 0.963618 6 668 0 111 2 0 0 0 0 112 2 -1.823947 0 1 0 0 1 0 0 0 2.055894 0 0.420000 1.870000 0.420000 0.040000 0 0.090000 0.040000 0.048496 0.040000 0 2.000000e-02 7.000000e-02 CHSY3 337876 broad.mit.edu 37 5 129520070 129520070 + Missense_Mutation SNP G G A rs140992502 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:129520070G>A ENST00000305031.4 + 3 1593 c.1235G>A c.(1234-1236)cGc>cAc p.R412H CHSY3_ENST00000507545.1_3'UTR NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATGCTCAGCCGCAAAATTTCT 0.478000 0 SO:0001583 missense ENST00000305031.4 0 1 hg19 CCDS34223.1 . . . . . . . . . . G 25.5 4.647807 0.87958 0.0 2.33E-4 ENSG00000198108 ENST00000305031 T 0.15834 2.39 4.5 4.5 0.54988 . 0.000000 0.64402 D 0.000016 T 0.27241 0.0668 M 0.65975 2.015 0.80722 D 1 P 0.48998 0.918 P 0.45998 0.5 T 0.03017 -1.1082 9 . . . -2.8659 18.5119 0.90920 0.0:0.0:1.0:0.0 . 412 Q70JA7 CHSS3_HUMAN H 412 ENSP00000302629:R412H . R + 2 0 CHSY3 129547969 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 9.601000 0.98297 2.779000 0.95612 0.650000 0.86243 CGC TCGA-US-A77G-01A-11D-A32N-08 CHSY3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000371453.1 0 0 0 6 365 0 64 0 0 0 1 0 64 2 0 0 0 0 0 2 0 0.006403 7 364 1 64 19 0 0 0 0 64 2 -2.305597 0 1 121412 22 45 1 0 0 0 2.055894 0 0.420000 1.870000 0.420000 0.070000 2.000000e-02 0.160000 0.080000 0.089023 0.070000 0 5.000000e-02 1.200000e-01 PCDHA7 56141 broad.mit.edu 37 5 140216008 140216008 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:140216008G>A ENST00000525929.1 + 1 2040 c.2040G>A c.(2038-2040)tcG>tcA p.S680S PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.S680S|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron NM_018910.2 NP_061733.1 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGCGTCGTCGCGGGCATCGT 0.622000 NSCLC(160;258 2013 5070 22440 28951) 0 SO:0001819 synonymous_variant ENST00000525929.1 1 1 hg19 CCDS54918.1 TCGA-US-A77G-01A-11D-A32N-08 PCDHA7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000372887.2 1 0 1 89 388 0 107 0 0 0 0 107 2 0 0 0 0 0 2 1 1.000000 88 381 0 105 2 0 0 0 0 107 2 -20.000000 1 1 0 0 1 0 0 0 2.055894 0 0.420000 1.870000 0.420000 0.880000 7.200000e-01 1.000000 1.000000 0.887558 0.880000 1 8.000000e-01 9.700000e-01 PCDHA8 56140 broad.mit.edu 37 5 140221029 140221029 + Silent SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:140221029C>T ENST00000531613.1 + 1 123 c.123C>T c.(121-123)caC>caT p.H41H PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Silent_p.H41H|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron NM_018911.2 NP_061734.1 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGCCAAACACGGCACCTTCG 0.672000 0 SO:0001819 synonymous_variant ENST00000531613.1 1 1 hg19 CCDS54919.1 TCGA-US-A77G-01A-11D-A32N-08 PCDHA8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000372830.2 1 0 1 43 400 0 109 0 0 0 0 109 2 0 0 0 0 0 2 1 1.000000 40 387 0 127 2 0 0 0 0 109 2 -20.000000 1 1 0 0 1 0 0 0 2.055894 0 0.420000 1.870000 0.420000 0.460000 3.300000e-01 0.600000 0.460000 0.469365 0.460000 0 3.900000e-01 5.300000e-01 PCDHGA8 9708 broad.mit.edu 37 5 140773877 140773877 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:140773877G>A ENST00000398604.2 + 1 1497 c.1497G>A c.(1495-1497)gcG>gcA p.A499A PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron NM_032088.1 NP_114477.1 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGGGGGCGCCCCTGTCCT 0.562000 0 SO:0001819 synonymous_variant ENST00000398604.2 1 1 hg19 CCDS47291.1 TCGA-US-A77G-01A-11D-A32N-08 PCDHGA8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000376972.1 1 0 1 47 178 0 44 0 0 1 0 0 44 2 0 0 0 0 0 2 1 1.000000 46 178 0 43 2 0 0 0 0 44 2 -20.000000 1 1 0 0 1 0 0 0 2.055894 0 0.420000 1.870000 0.420000 0.990000 7.500000e-01 1.000000 1.000000 0.949281 0.990000 1 8.600000e-01 1 FAM71B 153745 broad.mit.edu 37 5 156589868 156589868 + Missense_Mutation SNP C C T rs138175460 TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:156589868C>T ENST00000302938.4 - 2 1503 c.1408G>A c.(1408-1410)Gca>Aca p.A470T NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGGCCAGATGCGGACCGGTGG 0.532000 0 SO:0001583 missense ENST00000302938.4 0 1 hg19 CCDS4335.1 . . . . . . . . . . C 9.219 1.032795 0.19590 . . ENSG00000170613 ENST00000302938 T 0.19806 2.12 4.64 -9.28 0.00656 . 1.737350 0.03907 N 0.281301 T 0.06735 0.0172 N 0.03608 -0.345 0.09310 N 1 B 0.09022 0.002 B 0.06405 0.002 T 0.22906 -1.0203 10 0.23302 T 0.38 0.0025 4.3119 0.10974 0.1338:0.5568:0.1468:0.1627 . 470 Q8TC56 FA71B_HUMAN T 470 ENSP00000305596:A470T ENSP00000305596:A470T A - 1 0 FAM71B 156522446 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -1.937000 0.01547 -2.061000 0.00892 -1.268000 0.01426 GCA TCGA-US-A77G-01A-11D-A32N-08 FAM71B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252570.2 0 0 0 6 731 0 153 0 0 0 0 153 2 0 0 0 0 0 2 1 0.963244 6 719 0 152 2 0 0 0 0 153 2 -2.015480 0 1 121412 1 34 1 0 0 0 2.055894 0 0.420000 1.870000 0.420000 0.030000 0 0.080000 0.040000 0.044875 0.030000 0 2.000000e-02 6.000000e-02 FGFR4 2264 broad.mit.edu 37 5 176520430 176520430 + Silent SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:176520430C>T ENST00000292408.4 + 10 1520 c.1275C>T c.(1273-1275)tcC>tcT p.S425S FGFR4_ENST00000393637.1_Silent_p.S385S|FGFR4_ENST00000393648.2_Missense_Mutation_p.P374L|FGFR4_ENST00000292410.3_Silent_p.S385S|FGFR4_ENST00000502906.1_Silent_p.S425S NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039)|Ponatinib(DB08901) CAGGCTCTTCCGGCAAGTCAA 0.622000 TSP Lung(9;0.080) 0 SO:0001819 synonymous_variant ENST00000292408.4 1 1 hg19 CCDS4410.1 2|2 9.157509157509158E-4|9.157509157509158E-4 0|0 0.0|0.0 0|0 0.0|0.0 2|2 0.0034965034965034965|0.0034965034965034965 0|0 0.0|0.0 C|C 10.16|10.16 1.274249|1.274249 0.23221|0.23221 .|. .|. ENSG00000160867|ENSG00000160867 ENST00000393648|ENST00000511076 T|. 0.78481|. -1.18|. 4.76|4.76 -9.52|-9.52 0.00578|0.00578 .|. .|. .|. .|. .|. T|T 0.43743|0.43743 0.1261|0.1261 .|. .|. .|. 0.80722|0.80722 D|D 1|1 B|. 0.02656|. 0.0|. B|. 0.01281|. 0.0|. T|T 0.52480|0.52480 -0.8570|-0.8570 8|4 0.44086|. T|. 0.13|. .|. 5.7567|5.7567 0.18176|0.18176 0.1148:0.0898:0.4839:0.3115|0.1148:0.0898:0.4839:0.3115 .|. 374|. B4DVP5|. .|. L|W 374|57 ENSP00000377259:P374L|. ENSP00000377259:P374L|. P|R +|+ 2|1 0|2 FGFR4|FGFR4 176453036|176453036 0.000000|0.000000 0.05858|0.05858 0.212000|0.212000 0.23672|0.23672 0.653000|0.653000 0.38743|0.38743 -7.064000|-7.064000 0.00045|0.00045 -3.096000|-3.096000 0.00246|0.00246 -0.315000|-0.315000 0.08773|0.08773 CCG|CGG TCGA-US-A77G-01A-11D-A32N-08 FGFR4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253410.1 0 0 1 132 533 0 158 1 9.993709e-01 8 38 0 158 2 0 0 0 0 0 2 1 1.000000 130 529 0 155 2 0 0 0 0 158 2 -2.912873 1 1 121410 47 51 1 0 0 0 2.055894 0 0.420000 1.870000 0.420000 0.940000 8.000000e-01 1.000000 1.000000 0.936883 0.940000 1 8.600000e-01 1 ENC1 8507 broad.mit.edu 37 5 73931388 73931388 + Missense_Mutation SNP T T A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 T A T T Valid Somatic Phase_I WXS RNA Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:73931388T>A ENST00000302351.4 - 2 2053 c.923A>T c.(922-924)gAc>gTc p.D308V ENC1_ENST00000537006.1_Missense_Mutation_p.D308V|ENC1_ENST00000510316.1_Missense_Mutation_p.D235V NM_003633.3 NP_003624.1 O14682 ENC1_HUMAN ectodermal-neural cortex 1 (with BTB domain) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) ATACAACTTGTCACACATGAA 0.498000 0 SO:0001583 missense ENST00000302351.4 1 1 hg19 CCDS4021.1 . . . . . . . . . . T 19.63 3.863395 0.71949 . . ENSG00000171617 ENST00000302351;ENST00000510316;ENST00000537006 T;T;T 0.66280 -0.2;-0.2;-0.2 6.04 6.04 0.98038 Kelch-type beta propeller (1); 0.000000 0.85682 D 0.000000 T 0.68732 0.3033 L 0.55990 1.75 0.80722 D 1 P 0.51351 0.944 P 0.52343 0.696 T 0.66548 -0.5896 10 0.33940 T 0.23 . 16.5763 0.84648 0.0:0.0:0.0:1.0 . 308 O14682 ENC1_HUMAN V 308;235;308 ENSP00000306356:D308V;ENSP00000423804:D235V;ENSP00000446289:D308V ENSP00000306356:D308V D - 2 0 ENC1 73967144 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 8.040000 0.89188 2.317000 0.78254 0.459000 0.35465 GAC TCGA-US-A77G-01A-11D-A32N-08 ENC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000219862.2 1 0 1 65 290 0 69 1 9.999827e-01 36 38 0 69 2 0 0 0 0 0 2 1 1.000000 65 290 0 68 2 0 0 0 0 69 2 -20.000000 1 1 0 0 1 0 0 0 2.055894 0 0.420000 1.870000 0.420000 0.860000 6.800000e-01 1.000000 1.000000 0.871506 0.860000 1 7.700000e-01 9.700000e-01 MSH3 4437 broad.mit.edu 37 5 79974874 79974874 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr5:79974874G>A ENST00000265081.6 + 8 1382 c.1302G>A c.(1300-1302)gaG>gaA p.E434E NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) CCTTGTCCGAGCAAACAGAGG 0.478000 Mismatch excision repair (MMR) Melanoma(88;1010 1399 13793 26548 36275) 0 SO:0001819 synonymous_variant ENST00000265081.6 0 1 hg19 CCDS34195.1 TCGA-US-A77G-01A-11D-A32N-08 MSH3-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000369471.1 0 0 0 7 870 0 158 0 2.352844e-02 0 25 0 158 2 0 0 0 0 0 2 1 0.980226 7 865 0 157 2 0 0 0 0 158 2 -2.659744 1 1 0 0 1 0 0 0 2.055894 0 0.420000 1.870000 0.420000 0.030000 0 0.080000 0.040000 0.043238 0.030000 0 2.000000e-02 6.000000e-02 HLA-A 3105 broad.mit.edu 37 6 29910558 29910558 + Missense_Mutation SNP T T C rs76217816 byFrequency TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 T C T T Valid Somatic Phase_I WXS RNA Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr6:29910558T>C ENST00000396634.1 + 4 439 c.98T>C c.(97-99)tTc>tCc p.F33S HLA-A_ENST00000376802.2_Missense_Mutation_p.F33S|HLA-A_ENST00000376806.5_Missense_Mutation_p.F33S|HLA-A_ENST00000376809.5_Missense_Mutation_p.F33S P16189 1A31_HUMAN major histocompatibility complex, class I, A p.F33S(1) 30 AGGTATTTCTTCACATCCGTG 0.726000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 1 Substitution - Missense(1) SO:0001583 missense Familial Cancer Database Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial ENST00000396634.1 1 0 hg19 CCDS34373.1 983 0.4500915750915751 280 0.5691056910569106 184 0.5082872928176796 317 0.5541958041958042 202 0.26649076517150394 . 2.038 -0.420810 0.04734 0.515596 0.264244 ENSG00000206503 ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802 T;T;T;T 0.00010 9.43;9.43;9.43;9.43 3.72 -2.31 0.06765 MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1); 20.031000 0.00447 N 0.000090 T 0.00039 0.0001 L 0.38953 1.18 0.80722 P 0.0 B;B;B 0.14012 0.009;0.009;0.008 B;B;B 0.26864 0.074;0.04;0.04 T 0.15065 -1.0450 9 0.33141 T 0.24 . 5.7818 0.18310 0.2651:0.4571:0.0:0.2778 rs2075684;rs3179175;rs17423951;rs41542415 33;33;33 Q5SRN7;Q5SRN5;P04439 .;.;1A03_HUMAN S 33 ENSP00000379873:F33S;ENSP00000366002:F33S;ENSP00000366005:F33S;ENSP00000365998:F33S ENSP00000348012:F33S F + 2 0 HLA-A 30018537 0.000000 0.05858 0.000000 0.03702 0.007000 0.05969 -6.129000 0.00079 -0.931000 0.03746 -4.308000 0.00007 TTC TCGA-US-A77G-01A-11D-A32N-08 HLA-A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252909.1 0 0 1 35 159 0 41 1 1 213 1939 0 41 2 0 0 0 0 0 2 1 0.998461 16 156 1 41 14 0 0 0 0 41 2 -0.670151 0 0 120802 34584 77 1 0.420000 1.870000 0 0 HLA-A 3105 broad.mit.edu 37 6 29910572 29910572 + Missense_Mutation SNP C C T rs76382288 byFrequency TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr6:29910572C>T ENST00000396634.1 + 4 453 c.112C>T c.(112-114)Cgg>Tgg p.R38W HLA-A_ENST00000376802.2_Missense_Mutation_p.R38W|HLA-A_ENST00000376806.5_Missense_Mutation_p.R38W|HLA-A_ENST00000376809.5_Missense_Mutation_p.R38W P16189 1A31_HUMAN major histocompatibility complex, class I, A 30 ATCCGTGTCCCGGCCCGGCCG 0.706000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 0 SO:0001583 missense Familial Cancer Database Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial ENST00000396634.1 1 0 hg19 CCDS34373.1 81 0.03708791208791209 31 0.06300813008130081 21 0.058011049723756904 4 0.006993006993006993 25 0.032981530343007916 . 13.15 2.151849 0.38021 . . ENSG00000206503 ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802 T;T;T;T 0.00922 5.54;5.54;5.54;5.54 3.72 1.87 0.25490 MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3); 0.758419 0.10308 U 0.690295 T 0.02848 0.0085 H 0.94462 3.54 0.25023 N 0.991328 D;D;D;D;D 0.89917 1.0;0.998;1.0;0.999;1.0 D;P;D;D;D 0.73380 0.976;0.896;0.98;0.96;0.98 T 0.31475 -0.9942 10 0.87932 D 0 . 5.3229 0.15891 0.0:0.6744:0.2073:0.1183 rs45569434 38;38;38;38;38 P13746;Q5SRN7;P16188;Q5SRN5;P04439 1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN W 38 ENSP00000379873:R38W;ENSP00000366002:R38W;ENSP00000366005:R38W;ENSP00000365998:R38W ENSP00000348012:R38W R + 1 2 HLA-A 30018551 0.163000 0.22920 0.991000 0.47740 0.427000 0.31564 0.209000 0.17435 0.363000 0.24346 0.478000 0.44815 CGG TCGA-US-A77G-01A-11D-A32N-08 HLA-A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252909.1 0 0 1 34 153 0 40 1 1 284 2200 0 40 2 0 0 0 0 0 2 1 0.998070 19 149 1 40 14 0 0 0 0 40 2 -1.006282 0 0 121162 7513 61 1 0.420000 1.870000 0 0 HLA-A 3105 broad.mit.edu 37 6 29910604 29910604 + Silent SNP C C A rs113699656 by1000genomes TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 C A C C Valid Somatic Phase_I WXS RNA Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr6:29910604C>A ENST00000396634.1 + 4 485 c.144C>A c.(142-144)gcC>gcA p.A48A HLA-A_ENST00000376802.2_Silent_p.A48A|HLA-A_ENST00000376806.5_Silent_p.A48A|HLA-A_ENST00000376809.5_Silent_p.A48A P16189 1A31_HUMAN major histocompatibility complex, class I, A 30 GCTTCATCGCCGTGGGCTACG 0.701000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 0 SO:0001819 synonymous_variant Familial Cancer Database Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial ENST00000396634.1 1 0 hg19 CCDS34373.1 TCGA-US-A77G-01A-11D-A32N-08 HLA-A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252909.1 0 0 1 32 175 0 38 1 1 281 3709 0 38 2 0 0 0 0 0 2 1 0.987747 18 169 1 38 16 0 0 0 0 38 2 -0.791091 0 0 121308 43954 75 1 0.420000 1.870000 0 0 GLI3 2737 broad.mit.edu 37 7 42005520 42005520 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr7:42005520G>A ENST00000395925.3 - 15 3235 c.3151C>T c.(3151-3153)Cgg>Tgg p.R1051W GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 112 CCCTCGGGCCGCGTGTAATTC 0.662000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 0 SO:0001583 missense Familial Cancer Database ; ENST00000395925.3 1 1 hg19 CCDS5465.1 . . . . . . . . . . G 18.76 3.693058 0.68271 . . ENSG00000106571 ENST00000395925 T 0.15834 2.39 5.47 5.47 0.80525 . 0.100400 0.64402 D 0.000001 T 0.31513 0.0799 M 0.66939 2.045 0.80722 D 1 D 0.69078 0.997 P 0.51657 0.676 T 0.01516 -1.1335 10 0.36615 T 0.2 . 17.5184 0.87780 0.0:0.0:1.0:0.0 . 1051 P10071 GLI3_HUMAN W 1051 ENSP00000379258:R1051W ENSP00000379258:R1051W R - 1 2 GLI3 41972045 1.000000 0.71417 0.926000 0.36857 0.689000 0.40095 7.435000 0.80391 2.561000 0.86390 0.563000 0.77884 CGG TCGA-US-A77G-01A-11D-A32N-08 GLI3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250806.3 1 0 1 71 223 0 64 0 0 0 0 64 2 0 0 0 0 0 2 1 1.000000 71 221 0 63 2 0 0 0 0 64 2 -20.000000 1 1 121412 1 26 1 0 0 0 2.057159 0 0.420000 1.870000 0.420000 0.990000 9.200000e-01 1.000000 1.000000 0.995179 0.990000 1 9.900000e-01 1 ZMIZ2 83637 broad.mit.edu 37 7 44805162 44805162 + Missense_Mutation SNP C C G TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 C G C C Valid Somatic Phase_I WXS RNA Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr7:44805162C>G ENST00000309315.4 + 16 2349 c.2226C>G c.(2224-2226)agC>agG p.S742R ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S742R|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.S684R|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.S716R|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.S710R NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 35 CTGCCCCCAGCGACTACCCTG 0.657000 NSCLC(20;604 852 1948 16908 50522) 0 SO:0001583 missense ENST00000309315.4 1 1 hg19 CCDS43576.1 . . . . . . . . . . C 13.54 2.266217 0.40095 . . ENSG00000122515 ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051 T;T;T;T;T 0.33865 1.4;1.39;1.39;1.39;1.41 5.14 -0.476 0.12100 . 0.724500 0.13304 N 0.398004 T 0.29914 0.0748 L 0.59436 1.845 0.32588 N 0.527618 B;P;B 0.37141 0.009;0.584;0.409 B;B;B 0.37833 0.017;0.259;0.203 T 0.36237 -0.9756 10 0.39692 T 0.17 -2.9204 5.127 0.14890 0.1374:0.4536:0.0:0.409 . 716;742;684 Q8NF64-2;Q8NF64;Q8NF64-3 .;ZMIZ2_HUMAN;. R 684;742;742;710;716;745 ENSP00000409648:S684R;ENSP00000311778:S742R;ENSP00000414723:S742R;ENSP00000396601:S710R;ENSP00000265346:S716R ENSP00000265346:S716R S + 3 2 ZMIZ2 44771687 0.000000 0.05858 0.735000 0.30896 0.987000 0.75469 -2.469000 0.00992 0.016000 0.14998 0.561000 0.74099 AGC TCGA-US-A77G-01A-11D-A32N-08 ZMIZ2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000341790.1 1 0 0 20 101 0 26 1 9.999964e-01 52 65 0 26 2 0 0 0 0 0 2 1 0.999997 20 98 0 26 2 0 0 0 0 26 2 -20.000000 1 1 0 0 1 0 0 0 2.057159 0 0.420000 1.870000 0.420000 0.780000 5.100000e-01 1.000000 1.000000 0.793675 0.780000 0 6.300000e-01 9.600000e-01 SCRIB 23513 broad.mit.edu 37 8 144896264 144896264 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr8:144896264G>A ENST00000320476.3 - 2 190 c.184C>T c.(184-186)Cgc>Tgc p.R62C SCRIB_ENST00000356994.2_Missense_Mutation_p.R62C|MIR937_ENST00000401271.1_RNA|PUF60_ENST00000524570.1_5'Flank|SCRIB_ENST00000377533.3_5'UTR NM_015356.4 NP_056171 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CCCAGCTTGCGCAAGTTCAGC 0.617000 Pancreas(51;966 1133 10533 14576 29674) 0 SO:0001583 missense ENST00000320476.3 0 1 hg19 CCDS6411.1 . . . . . . . . . . G 15.57 2.873069 0.51695 . . ENSG00000180900 ENST00000356994;ENST00000320476 T;T 0.58940 0.3;0.3 4.49 -0.207 0.13189 . . . . . T 0.74222 0.3688 M 0.80422 2.495 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.998 T 0.77180 -0.2682 9 0.87932 D 0 . 13.3897 0.60816 0.0:0.0:0.392:0.608 . 62;62 Q14160;Q14160-3 SCRIB_HUMAN;. C 62 ENSP00000349486:R62C;ENSP00000322938:R62C ENSP00000322938:R62C R - 1 0 SCRIB 144968252 1.000000 0.71417 0.263000 0.24496 0.577000 0.36160 2.833000 0.48159 0.094000 0.17404 -0.182000 0.12963 CGC TCGA-US-A77G-01A-11D-A32N-08 SCRIB-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000382215.1 1 0 0 8 26 0 9 1 9.997887e-01 38 30 0 9 2 0 0 0 0 0 2 1 0.992400 8 26 0 9 2 0 0 0 0 9 2 -17.505890 1 1 0 0 1 0 1 1 2.050966 0 0.420000 1.870000 0.418779 0.990000 5.600000e-01 1.000000 1.000000 0.932276 0.990000 1 8.100000e-01 1 LHX2 9355 broad.mit.edu 37 9 126776246 126776246 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr9:126776246C>T ENST00000373615.4 + 2 866 c.127C>T c.(127-129)Ccg>Tcg p.P43S RP11-85O21.4_ENST00000421041.1_RNA NM_004789.3 NP_004780.3 P50458 LHX2_HUMAN LIM homeobox 2 10 GCAGACCATGCCGTCCATCAG 0.701000 0 SO:0001583 missense ENST00000373615.4 0 1 hg19 CCDS6853.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 34|34 5.325460|5.325460 0.95708|0.95708 .|. .|. ENSG00000106689|ENSG00000106689 ENST00000446480|ENST00000373615 .|D .|0.83914 .|-1.78 5.91|5.91 5.91|5.91 0.95273|0.95273 .|. .|0.116041 .|0.64402 .|D .|0.000015 D|D 0.84160|0.84160 0.5411|0.5411 M|M 0.73598|0.73598 2.24|2.24 0.54753|0.54753 D|D 0.999984|0.999984 .|B;B .|0.24721 .|0.11;0.029 .|B;B .|0.25884 .|0.064;0.016 T|T 0.80181|0.80181 -0.1489|-0.1489 5|10 .|0.42905 .|T .|0.14 .|. 18.8766|18.8766 0.92338|0.92338 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|43;43 .|B3KNJ5;P50458 .|.;LHX2_HUMAN V|S 40|43 .|ENSP00000362717:P43S .|ENSP00000362717:P43S A|P +|+ 2|1 0|0 LHX2|LHX2 125816067|125816067 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.994000|0.994000 0.84299|0.84299 7.803000|7.803000 0.85983|0.85983 2.793000|2.793000 0.96121|0.96121 0.655000|0.655000 0.94253|0.94253 GCC|CCG TCGA-US-A77G-01A-11D-A32N-08 LHX2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054010.2 0 0 0 5 267 0 59 0 0 0 0 59 2 0 0 0 0 0 2 1 0.937504 5 266 0 59 2 0 0 0 0 59 2 -3.012480 1 1 0 0 1 1 2 3 2.063944 0 0.420000 1.870000 0.421215 0.090000 3.000000e-02 0.200000 0.090000 0.103973 0.090000 0 5.000000e-02 1.500000e-01 TJP2 9414 broad.mit.edu 37 9 71866162 71866162 + Missense_Mutation SNP G G C TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chr9:71866162G>C ENST00000377245.4 + 21 3411 c.3203G>C c.(3202-3204)aGt>aCt p.S1068T TJP2_ENST00000535702.1_Missense_Mutation_p.S1035T|TJP2_ENST00000453658.2_Intron|TJP2_ENST00000348208.4_Intron|TJP2_ENST00000539225.1_Missense_Mutation_p.S1099T NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 35 GGAGAGAGCAGTGAGGAGCAA 0.512000 0 SO:0001583 missense ENST00000377245.4 0 1 hg19 CCDS6627.1 . . . . . . . . . . G 3.985 -0.005558 0.07773 . . ENSG00000119139 ENST00000377245;ENST00000535702;ENST00000539225 T;T;T 0.08634 3.08;3.07;3.13 6.17 -1.69 0.08186 . 0.777732 0.12506 N 0.462854 T 0.02418 0.0074 N 0.03608 -0.345 0.09310 N 1 B;B;B 0.09022 0.001;0.002;0.001 B;B;B 0.06405 0.002;0.002;0.001 T 0.43048 -0.9415 10 0.22109 T 0.4 . 0.2337 0.00183 0.244:0.2391:0.234:0.2829 . 1099;1035;1068 F5H301;F5H886;Q9UDY2 .;.;ZO2_HUMAN T 1068;1035;1099 ENSP00000366453:S1068T;ENSP00000442090:S1035T;ENSP00000438262:S1099T ENSP00000366453:S1068T S + 2 0 TJP2 71055982 0.000000 0.05858 0.003000 0.11579 0.337000 0.28794 -0.333000 0.07894 -0.348000 0.08286 -0.176000 0.13171 AGT TCGA-US-A77G-01A-11D-A32N-08 TJP2-003 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000052572.2 0 0 0 4 294 0 57 0 8.886348e-01 0 294 0 57 2 0 0 0 0 0 2 0 0.886186 0 292 0 57 2 0 0 0 0 57 2 -5.443505 1 0 0 0 1 0 0 0 2.056560 0 0.420000 1.870000 0.420000 0.060000 1.000000e-02 0.150000 0.060000 0.078938 0.060000 0 3.000000e-02 1.100000e-01 WDR44 54521 broad.mit.edu 37 X 117527019 117527019 + Missense_Mutation SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chrX:117527019C>T ENST00000254029.3 + 4 1006 c.611C>T c.(610-612)gCc>gTc p.A204V WDR44_ENST00000371822.5_Missense_Mutation_p.A179V|WDR44_ENST00000371825.3_Missense_Mutation_p.A204V|WDR44_ENST00000493448.1_3'UTR NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 p.A204G(2) 33 AAAGATTTTGCCGCTGTGGAA 0.488000 2 Substitution - Missense(2) SO:0001583 missense ENST00000254029.3 0 1 hg19 CCDS14572.1 . . . . . . . . . . C 7.626 0.677788 0.14841 . . ENSG00000131725 ENST00000371822;ENST00000254029;ENST00000371825 T;T;T 0.73152 -0.72;-0.14;-0.02 5.69 2.87 0.33458 . 0.693990 0.14300 N 0.328333 T 0.50497 0.1619 N 0.19112 0.55 0.21473 N 0.999679 B;B;B 0.18166 0.026;0.01;0.007 B;B;B 0.23419 0.046;0.022;0.015 T 0.36962 -0.9726 10 0.33940 T 0.23 -0.7721 2.9206 0.05767 0.1398:0.5526:0.1462:0.1614 . 179;204;204 F8W913;Q5JSH3-2;Q5JSH3 .;.;WDR44_HUMAN V 179;204;204 ENSP00000360887:A179V;ENSP00000254029:A204V;ENSP00000360890:A204V ENSP00000254029:A204V A + 2 0 WDR44 117411047 0.995000 0.38212 0.182000 0.23118 0.191000 0.23601 0.769000 0.26604 0.153000 0.19213 -0.253000 0.11424 GCC TCGA-US-A77G-01A-11D-A32N-08 WDR44-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058001.1 0 0 0 5 416 0 61 0 5.309212e-02 0 25 0 61 2 0 0 0 0 0 2 1 0.935915 5 411 0 61 2 0 0 0 0 61 2 -2.079381 0 1 0 0 1 0 1 1 0.420000 1.870000 0.420000 0.020000 0 0.060000 0.030000 0.033644 0.020000 0 1.000000e-02 5.000000e-02 MAGEC3 139081 broad.mit.edu 37 X 140985098 140985098 + Silent SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chrX:140985098C>T ENST00000298296.1 + 7 1554 c.1554C>T c.(1552-1554)ccC>ccT p.P518P MAGEC3_ENST00000443323.2_Silent_p.P140P|MAGEC3_ENST00000536088.1_Silent_p.P220P|MAGEC3_ENST00000409007.1_Silent_p.P220P|MAGEC3_ENST00000544766.1_Silent_p.P220P NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 69 Acute lymphoblastic leukemia(192;6.56e-05) ATATGGACCCCGACAACCACT 0.448000 0 SO:0001819 synonymous_variant ENST00000298296.1 0 1 hg19 CCDS14676.1 TCGA-US-A77G-01A-11D-A32N-08 MAGEC3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000058606.1 0 0 0 9 511 0 105 0 0 0 0 105 2 0 0 0 0 0 2 1 0.993766 8 502 0 102 2 0 0 0 0 105 2 -1.874510 0 1 121408 17 45 1 0 1 1 0.420000 1.870000 0.420000 0.030000 1.000000e-02 0.080000 0.040000 0.045481 0.030000 0 2.000000e-02 6.000000e-02 IL3RA 3563 broad.mit.edu 37 X 1497572 1497572 + Missense_Mutation SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chrX:1497572G>A ENST00000331035.4 + 10 1244 c.895G>A c.(895-897)Gca>Aca p.A299T IL3RA_ENST00000381469.2_Missense_Mutation_p.A221T NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GGAGGAGGGCGCAAACACACG 0.672000 0 SO:0001583 missense ENST00000331035.4 0 1 hg19 CCDS14113.1 . . . . . . . . . . . 0.030 -1.340363 0.01277 . . ENSG00000185291 ENST00000331035;ENST00000381469 T;D 0.95918 1.53;-3.85 0.798 -1.59 0.08453 . 113.382000 0.00775 N 0.001236 D 0.86834 0.6028 N 0.08118 0 0.09310 N 1 B;B 0.14438 0.01;0.003 B;B 0.09377 0.004;0.0 T 0.80405 -0.1396 9 0.14252 T 0.57 . . . . . 220;299 P26951-2;P26951 .;IL3RA_HUMAN T 299;221 ENSP00000327890:A299T;ENSP00000370878:A221T ENSP00000327890:A299T A + 1 0 IL3RA 1457572 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -3.867000 0.00346 -0.741000 0.04797 -0.510000 0.04470 GCA TCGA-US-A77G-01A-11D-A32N-08 IL3RA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055600.3 0 0 0 4 188 0 38 0 1.860800e-01 0 30 0 38 2 0 0 0 0 0 2 1 0.890018 4 187 0 38 2 0 0 0 0 38 2 -3.187799 1 1 121148 28 43 1 0 1 1 0.420000 1.870000 0.420000 0.050000 1.000000e-02 0.120000 0.050000 0.060914 0.050000 0 2.000000e-02 9.000000e-02 PRRG3 79057 broad.mit.edu 37 X 150869406 150869406 + Silent SNP G G A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1c1ef67-68f6-45f8-a296-7bd9201465b8 f15f5b8d-5e60-4946-9975-3fbff641efea g.chrX:150869406G>A ENST00000370353.3 + 4 987 c.597G>A c.(595-597)gcG>gcA p.A199A PRRG3_ENST00000538575.1_Silent_p.A199A Q9BZD7 TMG3_HUMAN proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) 24 Acute lymphoblastic leukemia(192;6.56e-05) AGGTGACTGCGCCCCAAGAGA 0.622000 0 SO:0001819 synonymous_variant ENST00000370353.3 1 1 hg19 CCDS14699.1 TCGA-US-A77G-01A-11D-A32N-08 PRRG3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000060880.1 1 0 1 120 127 0 39 0 0 0 0 39 2 0 0 0 0 0 2 1 1.000000 118 125 0 39 2 0 0 0 0 39 2 -20.000000 1 1 121392 8 40 1 0 1 1 0.420000 1.870000 0.420000 0.970000 9.000000e-01 1.000000 0.990000 0.976447 0.970000 1 9.400000e-01 1