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 chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF A1BG 0 genome.wustl.edu 37 19 58863717 58863717 + Missense_Mutation SNP C C A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 58863717 58863717 C A SNP A1BG ENST00000263100 human ensembl 74_37 -1 known missense c.545 p.C182F 1.000 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors A1BG HGNC ENSG00000121410 33 0 0.00 24 2 7.69 ABCD2 0 genome.wustl.edu 37 12 39967550 39967550 + Silent SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 12 39967550 39967550 G T SNP ABCD2 ENST00000308666 human ensembl 74_37 -1 known silent c.1971 p.S657 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCD2 HGNC ENSG00000173208 tier1 - - 40 0 0.00 52 4 7.14 ABI3BP 0 genome.wustl.edu 37 3 100554487 100554487 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 3 100554487 100554487 C G SNP ABI3BP ENST00000383691 human ensembl 74_37 -1 known missense c.85 p.E29Q 0.982 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 tier1 - - 21 0 0.00 21 4 16.00 ADCK2 0 genome.wustl.edu 37 7 140378976 140378976 + Nonsense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 7 140378976 140378976 C T SNP ADCK2 ENST00000072869 human ensembl 74_37 +1 known nonsense c.1102 p.Q368* 0.998 pfam_UbiB_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK2 HGNC ENSG00000133597 tier1 - - 95 0 0.00 68 32 32.00 ADGB 0 genome.wustl.edu 37 6 146956593 146956593 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 6 146956593 146956593 G A SNP ADGB ENST00000397944 human ensembl 74_37 +1 known missense c.157 p.E53K 1.000 NULL pfam_Peptidase_C2_calpain_cat,superfamily_Globin-like,smart_Peptidase_C2_calpain_cat,pfscan_IQ_motif_EF-hand-BS,pfscan_Peptidase_C2_calpain_cat - no_errors ADGB HGNC ENSG00000118492 tier1 - - 68 0 0.00 38 18 32.14 AHNAK 0 genome.wustl.edu 37 11 62289859 62289859 + Silent SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 11 62289859 62289859 C G SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.12030 p.L4010 0.030 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 103 0 0.00 88 38 30.16 AHNAK 0 genome.wustl.edu 37 11 62290087 62290087 + Missense_Mutation SNP C C A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 11 62290087 62290087 C A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.11802 p.K3934N 0.023 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 112 0 0.00 98 60 37.97 AHNAK 0 genome.wustl.edu 37 11 62299163 62299163 + Nonsense_Mutation SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 11 62299163 62299163 G T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known nonsense c.2726 p.S909* 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 143 0 0.00 113 42 27.10 AMOT 0 genome.wustl.edu 37 X 112024179 112024179 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 X 112024179 112024179 G A SNP AMOT ENST00000371959 human ensembl 74_37 -1 known missense c.2408 p.S803F 0.995 pfam_Angiomotin_C pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 tier1 - - 20 0 0.00 22 13 37.14 APBA2 0 genome.wustl.edu 37 15 29400541 29400541 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 15 29400541 29400541 C T SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known silent c.1986 p.I662 1.000 superfamily_PDZ,pfscan_PDZ pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 tier1 - - 40 0 0.00 43 19 30.65 ARFGEF2 0 genome.wustl.edu 37 20 47589702 47589702 + Missense_Mutation SNP A A G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 20 47589702 47589702 A G SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.1546 p.I516V 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 tier1 - - 58 0 0.00 42 26 38.24 ARID1A 0 genome.wustl.edu 37 1 27087879 27087879 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 27087879 27087879 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known silent c.2166 p.N722 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 - - 32 0 0.00 28 12 30.00 ATF7IP 0 genome.wustl.edu 37 12 14589100 14589100 + Missense_Mutation SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 12 14589100 14589100 G T SNP ATF7IP ENST00000261168 human ensembl 74_37 +1 known missense c.1706 p.R569L 0.996 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 21 0 0.00 15 2 11.76 ATG2B 0 genome.wustl.edu 37 14 96829287 96829287 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 14 96829287 96829287 G C SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known missense c.27 p.I9M 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 tier1 - - 57 0 0.00 58 24 29.27 AVPR2 0 genome.wustl.edu 37 X 153171021 153171021 + Missense_Mutation SNP A A G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 X 153171021 153171021 A G SNP AVPR2 ENST00000337474 human ensembl 74_37 +1 known missense c.61 p.S21G 0.065 prints_Vprsn_rcpt_V2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR2 HGNC ENSG00000126895 tier1 - - 27 0 0.00 74 5 6.33 AWAT2 0 genome.wustl.edu 37 X 69263824 69263824 + Silent SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 X 69263824 69263824 C G SNP AWAT2 ENST00000276101 human ensembl 74_37 -1 known silent c.219 p.V73 0.464 pfam_DAGAT pfam_DAGAT - no_errors AWAT2 HGNC ENSG00000147160 tier1 - - 32 0 0.00 15 28 65.12 BCL2L11 0 genome.wustl.edu 37 2 111907693 111907693 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 2 111907693 111907693 G A SNP BCL2L11 ENST00000393256 human ensembl 74_37 +1 known missense c.467 p.G156E 1.000 pfam_Bcl-x_interacting_BH3_dom,pirsf_Bcl-2-like_11 pfam_Bcl-x_interacting_BH3_dom,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11 - no_errors BCL2L11 HGNC ENSG00000153094 tier1 - - 53 0 0.00 33 16 32.65 BMP2K 0 genome.wustl.edu 37 4 79832424 79832424 + Missense_Mutation SNP A A G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 4 79832424 79832424 A G SNP BMP2K ENST00000335016 human ensembl 74_37 +1 known missense c.2723 p.N908S 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMP2K HGNC ENSG00000138756 tier1 - - 57 0 0.00 24 24 50.00 BNC2 0 genome.wustl.edu 37 9 16437354 16437354 + Missense_Mutation SNP A A G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 9 16437354 16437354 A G SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.838 p.S280P 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 tier1 - - 64 0 0.00 18 19 51.35 BZRAP1 0 genome.wustl.edu 37 17 56400114 56400114 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 56400114 56400114 C T SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known silent c.1218 p.L406 1.000 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 tier1 - - 30 0 0.00 19 10 34.48 C17orf66 0 genome.wustl.edu 37 17 34185297 34185297 + Silent SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 34185297 34185297 G C SNP C17orf66 ENST00000311880 human ensembl 74_37 -1 known silent c.1059 p.L353 0.995 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C17orf66 HGNC ENSG00000172653 tier1 - - 37 0 0.00 49 26 34.67 C3orf27 0 genome.wustl.edu 37 3 128292319 128292320 + Frame_Shift_Del DEL TC TC - TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 3 128292319 128292320 TC - DEL C3orf27 ENST00000356020 human ensembl 74_37 -1 known frame_shift_del c.254_253 p.D85fs 0.075:0.076 NULL NULL - no_errors C3orf27 HGNC ENSG00000198685 tier1 19 0 0.00 18 4 18.18 C5orf58 0 genome.wustl.edu 37 5 169661118 169661119 + Splice_Site INS - - T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 5 169661118 169661119 - T INS C5orf58 ENST00000593851 human ensembl 74_37 +1 known splice_site_ins c.1-1_0 e1-1 0.000:0.003 - - - no_errors C5orf58 HGNC ENSG00000234511 tier1 37 0 0.00 12 10 45.45 CACNB3 0 genome.wustl.edu 37 12 49217550 49217550 + Silent SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 12 49217550 49217550 C G SNP CACNB3 ENST00000301050 human ensembl 74_37 +1 known silent c.255 p.V85 1.000 superfamily_SH3_domain pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,prints_VDCC_L_bsu,prints_VDCC_L_b3su - no_errors CACNB3 HGNC ENSG00000167535 tier1 - - 63 0 0.00 31 15 32.61 CASD1 0 genome.wustl.edu 37 7 94184821 94184821 + Nonsense_Mutation SNP T T A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 7 94184821 94184821 T A SNP CASD1 ENST00000297273 human ensembl 74_37 +1 known nonsense c.2145 p.Y715* 0.995 NULL pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 tier1 - - 38 0 0.00 44 25 36.23 CASP14 0 genome.wustl.edu 37 19 15164702 15164702 + Silent SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 15164702 15164702 G T SNP CASP14 ENST00000221740 human ensembl 74_37 +1 known silent c.336 p.L112 0.291 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP14 HGNC ENSG00000105141 18 0 0.00 30 3 9.09 CAST 0 genome.wustl.edu 37 5 96108510 96108510 + RNA SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 5 96108510 96108510 G C SNP CAST ENST00000348386 human ensembl 74_37 +1 known rna NULL NULL 0.942 - - - no_errors CAST HGNC ENSG00000153113 tier1 - - 54 0 0.00 12 12 50.00 CCDC14 0 genome.wustl.edu 37 3 123650025 123650025 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 3 123650025 123650025 C T SNP CCDC14 ENST00000488653 human ensembl 74_37 -1 known missense c.1846 p.E616K 0.986 NULL NULL - no_errors CCDC14 HGNC ENSG00000175455 tier1 - - 53 0 0.00 25 14 35.90 CCDC168 0 genome.wustl.edu 37 13 103388934 103388934 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 13 103388934 103388934 C G SNP CCDC168 ENST00000322527 human ensembl 74_37 -1 known missense c.226 p.E76Q 0.001 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 tier1 - - 58 0 0.00 45 16 26.23 CCT2 0 genome.wustl.edu 37 12 69980553 69980553 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 12 69980553 69980553 C T SNP CCT2 ENST00000299300 human ensembl 74_37 +1 known silent c.99 p.I33 0.974 superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_beta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta - no_errors CCT2 HGNC ENSG00000166226 tier1 - - 72 0 0.00 30 15 33.33 CCT8L2 0 genome.wustl.edu 37 22 17072518 17072518 + Missense_Mutation SNP T T C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 22 17072518 17072518 T C SNP CCT8L2 ENST00000359963 human ensembl 74_37 -1 known missense c.923 p.D308G 0.005 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 tier1 - - 60 0 0.00 57 18 24.00 CDCA7 0 genome.wustl.edu 37 2 174231980 174231980 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 2 174231980 174231980 C T SNP CDCA7 ENST00000306721 human ensembl 74_37 +1 known missense c.1288 p.H430Y 1.000 pfam_Znf-4CXXC_R1 pfam_Znf-4CXXC_R1 - no_errors CDCA7 HGNC ENSG00000144354 tier1 - - 67 0 0.00 27 25 48.08 CDH12 0 genome.wustl.edu 37 5 21842384 21842384 + Nonsense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 5 21842384 21842384 G A SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known nonsense c.700 p.Q234* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 tier1 - - 70 0 0.00 46 29 38.67 CDK13 0 genome.wustl.edu 37 7 39991112 39991112 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 7 39991112 39991112 C T SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known missense c.872 p.S291L 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK13 HGNC ENSG00000065883 tier1 - - 9 0 0.00 4 5 55.56 CDYL 0 genome.wustl.edu 37 6 4943930 4943930 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 6 4943930 4943930 C T SNP CDYL ENST00000328908 human ensembl 74_37 +1 known silent c.1434 p.F478 1.000 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 tier1 - - 58 0 0.00 45 29 39.19 CEP152 0 genome.wustl.edu 37 15 49031177 49031177 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 15 49031177 49031177 C T SNP CEP152 ENST00000380950 human ensembl 74_37 -1 known missense c.4402 p.E1468K 0.304 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 tier1 - - 30 0 0.00 26 13 33.33 CEP250 0 genome.wustl.edu 37 20 34090592 34090592 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 20 34090592 34090592 G A SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known silent c.4395 p.L1465 0.984 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 tier1 - - 25 0 0.00 19 9 32.14 CEP250 0 genome.wustl.edu 37 20 34092542 34092542 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 20 34092542 34092542 G C SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.6345 p.E2115D 0.942 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 tier1 - - 16 0 0.00 19 4 17.39 CEP85L 0 genome.wustl.edu 37 6 118886706 118886706 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 6 118886706 118886706 C G SNP CEP85L ENST00000368488 human ensembl 74_37 -1 known missense c.1015 p.E339Q 1.000 NULL NULL - no_errors CEP85L HGNC ENSG00000111860 tier1 - - 19 0 0.00 14 4 22.22 CGREF1 0 genome.wustl.edu 37 2 27325006 27325006 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 2 27325006 27325006 C T SNP CGREF1 ENST00000312734 human ensembl 74_37 -1 known missense c.301 p.A101T 0.722 pfscan_EF_hand_dom pfscan_EF_hand_dom - no_errors CGREF1 HGNC ENSG00000138028 tier1 - - 29 0 0.00 40 4 9.09 CHD8 0 genome.wustl.edu 37 14 21861740 21861740 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 14 21861740 21861740 C G SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known missense c.6214 p.E2072Q 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 tier1 - - 25 0 0.00 15 12 44.44 CHL1 0 genome.wustl.edu 37 3 239555 239556 + Frame_Shift_Ins INS - - T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 3 239555 239556 - T INS CHL1 ENST00000453040 human ensembl 74_37 +1 known frame_shift_ins c.226_227 p.F80fs 0.000:0.000 NULL NULL - no_errors CHL1 HGNC ENSG00000134121 tier1 51 0 0.00 58 6 9.38 CHM 0 genome.wustl.edu 37 X 85118100 85118101 + Splice_Site INS - - T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 X 85118100 85118101 - T INS CHM ENST00000467744 human ensembl 74_37 -1 known splice_site_ins c.NULL NULL 0.002:0.003 - - - no_errors CHM HGNC ENSG00000188419 tier1 13 0 0.00 19 3 13.64 CHM 0 genome.wustl.edu 37 X 85118101 85118101 + Splice_Site DEL T T - TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 X 85118101 85118101 T - DEL CHM ENST00000467744 human ensembl 74_37 -1 known splice_site_del c.NULL NULL 0.003 - - - no_errors CHM HGNC ENSG00000188419 tier1 14 0 0.00 18 4 18.18 CHRD 0 genome.wustl.edu 37 3 184101106 184101107 + Frame_Shift_Del DEL AA AA - TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 3 184101106 184101107 AA - DEL CHRD ENST00000204604 human ensembl 74_37 +1 known frame_shift_del c.1220_1221 p.S408fs 1.000:0.999 pfam_CHRD,smart_CHRD,pirsf_Chordin,pfscan_CHRD pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 tier1 29 0 0.00 23 34 59.65 CLHC1 0 genome.wustl.edu 37 2 55439812 55439812 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 2 55439812 55439812 G C SNP CLHC1 ENST00000401408 human ensembl 74_37 -1 known missense c.496 p.P166A 1.000 pirsf_Clathrin_heavy-chain-rel superfamily_ARM-type_fold,pirsf_Clathrin_heavy-chain-rel - no_errors CLHC1 HGNC ENSG00000162994 tier1 - - 38 0 0.00 21 12 36.36 CNOT6L 0 genome.wustl.edu 37 4 78647324 78647324 + Missense_Mutation SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 4 78647324 78647324 G T SNP CNOT6L ENST00000264903 human ensembl 74_37 -1 known missense c.1452 p.F484L 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6L HGNC ENSG00000138767 tier1 - - 52 0 0.00 17 18 51.43 CNTN5 0 genome.wustl.edu 37 11 99942510 99942510 + Missense_Mutation SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 11 99942510 99942510 G T SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.1373 p.C458F 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 tier1 - - 19 0 0.00 8 4 33.33 COL22A1 0 genome.wustl.edu 37 8 139603732 139603732 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 8 139603732 139603732 G C SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.4628 p.A1543G 1.000 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 tier1 - - 40 0 0.00 45 8 15.09 COL22A1 0 genome.wustl.edu 37 8 139737649 139737649 + Frame_Shift_Del DEL G G - TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 8 139737649 139737649 G - DEL COL22A1 ENST00000303045 human ensembl 74_37 -1 known frame_shift_del c.2174 p.P725fs 1.000 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 tier1 24 0 0.00 22 2 8.33 CPAMD8 0 genome.wustl.edu 37 19 17038839 17038839 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 17038839 17038839 C T SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.3491 p.R1164Q 1.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 tier1 - - 38 0 0.00 35 13 27.08 CPSF1 0 genome.wustl.edu 37 8 145622125 145622125 + Missense_Mutation SNP A A G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 8 145622125 145622125 A G SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known missense c.2612 p.L871P 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 tier1 - - 87 0 0.00 113 36 24.16 CRCP 0 genome.wustl.edu 37 7 65617254 65617254 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 7 65617254 65617254 C T SNP CRCP ENST00000395326 human ensembl 74_37 +1 known silent c.357 p.T119 0.001 pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core - no_errors CRCP HGNC ENSG00000241258 tier1 - - 21 0 0.00 15 7 31.82 CREB3L2 0 genome.wustl.edu 37 7 137686398 137686398 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 7 137686398 137686398 C T SNP CREB3L2 ENST00000330387 human ensembl 74_37 -1 known silent c.54 p.L18 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L2 HGNC ENSG00000182158 tier1 - - 66 0 0.00 50 17 25.37 CSMD1 0 genome.wustl.edu 37 8 3015448 3015448 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 8 3015448 3015448 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.5888 p.R1963H 0.999 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 31 0 0.00 14 2 12.50 CTNNA1 0 genome.wustl.edu 37 5 138266577 138266577 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 5 138266577 138266577 G A SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known missense c.2251 p.E751K 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 tier1 - - 31 0 0.00 35 6 14.63 CWC27 0 genome.wustl.edu 37 5 64081312 64081312 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 5 64081312 64081312 C T SNP CWC27 ENST00000381070 human ensembl 74_37 +1 known missense c.401 p.T134I 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors CWC27 HGNC ENSG00000153015 tier1 - - 60 0 0.00 26 19 42.22 CYLC2 0 genome.wustl.edu 37 9 105767708 105767708 + Missense_Mutation SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 9 105767708 105767708 G T SNP CYLC2 ENST00000374798 human ensembl 74_37 +1 known missense c.795 p.K265N 0.020 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 14 0 0.00 14 2 12.50 CYP1A1 0 genome.wustl.edu 37 15 75014785 75014785 + Silent SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 15 75014785 75014785 G C SNP CYP1A1 ENST00000379727 human ensembl 74_37 -1 known silent c.654 p.V218 0.033 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A1 HGNC ENSG00000140465 tier1 - - 70 0 0.00 58 20 25.64 CYP2W1 0 genome.wustl.edu 37 7 1024706 1024706 + Missense_Mutation SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 7 1024706 1024706 G T SNP CYP2W1 ENST00000308919 human ensembl 74_37 +1 known missense c.458 p.C153F 0.053 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2W1 HGNC ENSG00000073067 tier1 - - 82 0 0.00 77 30 28.04 DAGLA 0 genome.wustl.edu 37 11 61491028 61491028 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 11 61491028 61491028 C T SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.532 p.R178W 1.000 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 tier1 - - 25 0 0.00 29 10 25.64 DAPK1 0 genome.wustl.edu 37 9 90252871 90252871 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 9 90252871 90252871 G A SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known missense c.298 p.E100K 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 tier1 - - 46 0 0.00 13 21 61.76 DCAF4L2 0 genome.wustl.edu 37 8 88886083 88886083 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 8 88886083 88886083 G A SNP DCAF4L2 ENST00000319675 human ensembl 74_37 -1 known silent c.117 p.F39 0.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 tier1 - - 107 0 0.00 75 40 34.78 DCC 0 genome.wustl.edu 37 18 50731660 50731660 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 18 50731660 50731660 C T SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.1648 p.P550S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 tier1 - - 40 0 0.00 16 15 48.39 DDR1 0 genome.wustl.edu 37 6 30864803 30864803 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 6 30864803 30864803 G A SNP DDR1 ENST00000376575 human ensembl 74_37 +1 known missense c.1882 p.E628K 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 tier1 - - 63 0 0.00 37 23 38.33 DDX21 0 genome.wustl.edu 37 10 70716052 70716052 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 10 70716052 70716052 G C SNP DDX21 ENST00000354185 human ensembl 74_37 +1 known missense c.71 p.R24P 0.001 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX21 HGNC ENSG00000165732 tier1 - - 18 0 0.00 10 5 33.33 DDX28 0 genome.wustl.edu 37 16 68055590 68055590 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 16 68055590 68055590 G C SNP DDX28 ENST00000332395 human ensembl 74_37 -1 known missense c.1516 p.P506A 0.997 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX28 HGNC ENSG00000182810 tier1 - - 22 0 0.00 30 7 18.92 DENND2A 0 genome.wustl.edu 37 7 140269453 140269453 + Nonsense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 7 140269453 140269453 G C SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known nonsense c.1532 p.S511* 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 tier1 - - 57 0 0.00 46 21 31.34 DLG1 0 genome.wustl.edu 37 3 196812438 196812438 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 3 196812438 196812438 G C SNP DLG1 ENST00000392381 human ensembl 74_37 -1 known missense c.1950 p.F650L 0.001 smart_SH3_domain pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_PDZ,superfamily_SH3_domain,smart_L27,smart_PDZ,smart_SH3_domain,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain - no_errors DLG1 HGNC ENSG00000075711 tier1 - - 30 0 0.00 32 25 43.86 DLGAP3 0 genome.wustl.edu 37 1 35370161 35370161 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 35370161 35370161 G A SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known missense c.824 p.A275V 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 tier1 - - 35 0 0.00 25 11 30.56 DLGAP5 0 genome.wustl.edu 37 14 55642728 55642728 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 14 55642728 55642728 G A SNP DLGAP5 ENST00000247191 human ensembl 74_37 -1 known missense c.1058 p.S353F 0.774 pfam_GKAP pfam_GKAP - no_errors DLGAP5 HGNC ENSG00000126787 tier1 - - 57 0 0.00 36 13 26.53 DNAH5 0 genome.wustl.edu 37 5 13883156 13883156 + Silent SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 5 13883156 13883156 G T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.3031 p.R1011 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 22 0 0.00 38 2 5.00 DNHD1 0 genome.wustl.edu 37 11 6519527 6519527 + Missense_Mutation SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 11 6519527 6519527 G T SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.82 p.V28F 0.000 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 tier1 - - 30 0 0.00 13 3 18.75 DPCR1 0 genome.wustl.edu 37 6 30917575 30917575 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 6 30917575 30917575 G C SNP DPCR1 ENST00000462446 human ensembl 74_37 +1 novel missense c.1334 p.R445T 0.000 NULL NULL - no_errors DPCR1 HGNC ENSG00000168631 tier1 - - 65 0 0.00 46 28 37.84 DPM2 0 genome.wustl.edu 37 9 130698040 130698040 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 9 130698040 130698040 C T SNP DPM2 ENST00000314392 human ensembl 74_37 -1 known silent c.216 p.V72 0.985 pfam_DPM2 pfam_DPM2 - no_errors DPM2 HGNC ENSG00000136908 tier1 - - 48 0 0.00 32 10 23.81 DPYD 0 genome.wustl.edu 37 1 97771847 97771847 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 97771847 97771847 C T SNP DPYD ENST00000370192 human ensembl 74_37 -1 known missense c.2065 p.E689K 1.000 pfam_Dihydroorotate_DH_1_2,pfam_tRNA_hU_synthase,tigrfam_Dihydroorotate_DH pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 tier1 - - 17 0 0.00 20 6 23.08 DSCR3 0 genome.wustl.edu 37 21 38610793 38610793 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 21 38610793 38610793 C G SNP DSCR3 ENST00000309117 human ensembl 74_37 -1 known missense c.319 p.E107Q 1.000 pfam_VPS26,pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_VPS26,pfam_Arrestin-like_N,superfamily_Ig_E-set - no_errors DSCR3 HGNC ENSG00000157538 tier1 - - 25 0 0.00 15 10 40.00 DSEL 0 genome.wustl.edu 37 18 65180887 65180887 + Frame_Shift_Del DEL A A - TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 18 65180887 65180887 A - DEL DSEL ENST00000310045 human ensembl 74_37 -1 known frame_shift_del c.989 p.L330fs 0.996 superfamily_Chondroitin_lyas pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 tier1 49 0 0.00 28 2 6.67 DSP 0 genome.wustl.edu 37 6 7583820 7583820 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 6 7583820 7583820 G A SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.6325 p.E2109K 0.999 smart_Plectin_repeat pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 tier1 - - 33 0 0.00 20 16 44.44 DST 0 genome.wustl.edu 37 6 56535438 56535438 + Splice_Site SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 6 56535438 56535438 C G SNP DST ENST00000370754 human ensembl 74_37 -1 known splice_site c.1115+1 e9+1 1.000 - - - no_errors DST HGNC ENSG00000151914 tier1 - - 25 0 0.00 29 11 27.50 E2F5 0 genome.wustl.edu 37 8 86118428 86118428 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 8 86118428 86118428 C T SNP E2F5 ENST00000256117 human ensembl 74_37 +1 known missense c.526 p.H176Y 1.000 NULL pfam_E2F_TDP - no_errors E2F5 HGNC ENSG00000133740 tier1 - - 58 0 0.00 33 7 17.50 ECE1 0 genome.wustl.edu 37 1 21582529 21582529 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 21582529 21582529 C G SNP ECE1 ENST00000374893 human ensembl 74_37 -1 known missense c.931 p.E311Q 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECE1 HGNC ENSG00000117298 tier1 - - 33 0 0.00 37 14 27.45 ECI1 0 genome.wustl.edu 37 16 2296896 2296896 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 16 2296896 2296896 C T SNP ECI1 ENST00000301729 human ensembl 74_37 -1 known silent c.258 p.E86 0.999 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam - no_errors ECI1 HGNC ENSG00000167969 tier1 - - 70 0 0.00 41 28 40.58 EEF1DP3 0 genome.wustl.edu 37 13 32527031 32527031 + RNA SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 13 32527031 32527031 G A SNP EEF1DP3 ENST00000428783 human ensembl 74_37 +1 known rna NULL NULL 0.732 - - - no_errors EEF1DP3 HGNC ENSG00000229715 tier1 - - 28 0 0.00 15 14 48.28 EFCAB13 0 genome.wustl.edu 37 17 45451874 45451874 + Nonsense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 45451874 45451874 C G SNP EFCAB13 ENST00000331493 human ensembl 74_37 +1 known nonsense c.914 p.S305* 0.067 NULL NULL - no_errors EFCAB13 HGNC ENSG00000178852 tier1 - - 49 0 0.00 34 16 32.00 EHD1 0 genome.wustl.edu 37 11 64621765 64621765 + RNA SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 11 64621765 64621765 C T SNP EHD1 ENST00000488711 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EHD1 HGNC ENSG00000110047 tier1 - - 46 0 0.00 39 27 40.91 EIF4ENIF1 0 genome.wustl.edu 37 22 31835930 31835930 + Missense_Mutation SNP T T A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 22 31835930 31835930 T A SNP EIF4ENIF1 ENST00000330125 human ensembl 74_37 -1 known missense c.2894 p.Q965L 1.000 NULL pfam_eIF4E_transporter - no_errors EIF4ENIF1 HGNC ENSG00000184708 tier1 - - 36 0 0.00 34 20 37.04 ELAVL1 0 genome.wustl.edu 37 19 8032642 8032642 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 8032642 8032642 C G SNP ELAVL1 ENST00000351593 human ensembl 74_37 -1 known missense c.544 p.D182H 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL1 HGNC ENSG00000066044 tier1 - - 52 0 0.00 37 31 45.59 ELAVL3 0 genome.wustl.edu 37 19 11591457 11591457 + RNA DEL G G - TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 11591457 11591457 G - DEL ELAVL3 ENST00000592218 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors ELAVL3 HGNC ENSG00000196361 tier1 43 0 0.00 50 34 40.48 ELAVL3 0 genome.wustl.edu 37 19 11591462 11591462 + RNA SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 11591462 11591462 G T SNP ELAVL3 ENST00000592218 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors ELAVL3 HGNC ENSG00000196361 tier1 - - 38 0 0.00 45 39 46.43 ENG 0 genome.wustl.edu 37 9 130578263 130578263 + Missense_Mutation SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 9 130578263 130578263 G T SNP ENG ENST00000373203 human ensembl 74_37 -1 known missense c.1811 p.A604D 1.000 NULL pfam_ZP_dom - no_errors ENG HGNC ENSG00000106991 tier1 - - 46 0 0.00 37 19 33.93 ENSG00000215953 0 genome.wustl.edu 37 5 84823943 84823944 + RNA DEL CA CA - TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 5 84823943 84823944 CA - DEL ENSG00000215953 ENST00000401134 human ensembl 74_37 -1 novel rna NULL NULL 0.030:0.032 - - - no_errors AC026700.1 Clone_based_ensembl_gene ENSG00000215953 tier1 50 0 0.00 23 3 11.54 ENSG00000221016 0 genome.wustl.edu 37 17 45195869 45195869 + RNA SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 45195869 45195869 G C SNP ENSG00000221016 ENST00000408089 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC002558.1 Clone_based_ensembl_gene ENSG00000221016 tier1 - - 44 0 0.00 17 17 50.00 ENSG00000257743 0 genome.wustl.edu 37 7 141867247 141867247 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 7 141867247 141867247 G A SNP ENSG00000257743 ENST00000477922 human ensembl 74_37 +1 putative silent c.2988 p.L996 0.144 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 tier1 - - 36 0 0.00 23 17 42.50 ENSG00000259480 0 genome.wustl.edu 37 15 23128493 23128493 + RNA SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 15 23128493 23128493 C T SNP ENSG00000259480 ENST00000560053 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-26F2.1 Clone_based_vega_gene ENSG00000259480 tier1 - - 52 0 0.00 31 19 38.00 ENSG00000272017 0 genome.wustl.edu 37 6 100016540 100016540 + RNA SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 6 100016540 100016540 G A SNP ENSG00000272017 ENST00000607332 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-199J3.7 Clone_based_vega_gene ENSG00000272017 tier1 - - 38 0 0.00 33 13 28.26 EPB41L3 0 genome.wustl.edu 37 18 5406961 5406961 + Nonsense_Mutation SNP C C A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 18 5406961 5406961 C A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known nonsense c.2164 p.E722* 1.000 pirsf_Band_41_protein,pfam_SAB_dom pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 100 0 0.00 69 30 30.30 EPB41L3 0 genome.wustl.edu 37 18 5488869 5488869 + RNA SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 18 5488869 5488869 C T SNP EPB41L3 ENST00000581454 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 16 0 0.00 7 4 36.36 EPHA10 0 genome.wustl.edu 37 1 38201051 38201051 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 38201051 38201051 C T SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known missense c.1369 p.E457K 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA10 HGNC ENSG00000183317 tier1 - - 42 0 0.00 31 15 32.61 EWSR1 0 genome.wustl.edu 37 22 29678390 29678390 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 22 29678390 29678390 G C SNP EWSR1 ENST00000414183 human ensembl 74_37 +1 known missense c.443 p.G148A 1.000 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors EWSR1 HGNC ENSG00000182944 tier1 - - 56 0 0.00 37 14 27.45 FAM183B 0 genome.wustl.edu 37 7 38725305 38725305 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 7 38725305 38725305 C T SNP FAM183B ENST00000409072 human ensembl 74_37 -1 novel missense c.301 p.D101N 0.027 NULL NULL - no_errors FAM183B HGNC ENSG00000164556 tier1 - - 57 0 0.00 53 21 28.38 FAM230A 0 genome.wustl.edu 37 22 20708800 20708800 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 22 20708800 20708800 G A SNP FAM230A ENST00000434783 human ensembl 74_37 +1 known missense c.532 p.E178K 0.000 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors FAM230A HGNC ENSG00000188280 tier1 - - 91 0 0.00 73 49 40.16 FAM46B 0 genome.wustl.edu 37 1 27333125 27333125 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 27333125 27333125 G A SNP FAM46B ENST00000289166 human ensembl 74_37 -1 known silent c.588 p.S196 0.741 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46B HGNC ENSG00000158246 22 0 0.00 36 2 5.26 FAM90A27P 0 genome.wustl.edu 37 19 53787529 53787529 + RNA SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 53787529 53787529 C G SNP FAM90A27P ENST00000599085 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors FAM90A27P HGNC ENSG00000189348 tier1 - - 36 0 0.00 36 19 34.55 FER1L6 0 genome.wustl.edu 37 8 125033904 125033904 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 8 125033904 125033904 G A SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known missense c.2128 p.D710N 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 tier1 - - 31 0 0.00 35 12 25.53 FLNA 0 genome.wustl.edu 37 X 153589759 153589759 + Nonsense_Mutation SNP C C A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 X 153589759 153589759 C A SNP FLNA ENST00000369850 human ensembl 74_37 -1 known nonsense c.3124 p.E1042* 0.952 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 tier1 - - 37 0 0.00 56 13 18.84 FOLH1 0 genome.wustl.edu 37 11 49204779 49204779 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 11 49204779 49204779 C T SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known missense c.842 p.R281H 0.843 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 tier1 rs116795343 - 44 0 0.00 36 5 12.20 FOLH1 0 genome.wustl.edu 37 11 49204790 49204790 + Silent SNP A A G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 11 49204790 49204790 A G SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known silent c.831 p.Y277 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 tier1 rs76509850 - 39 0 0.00 31 7 18.42 FREM3 0 genome.wustl.edu 37 4 144614357 144614358 + Splice_Site INS - - A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 4 144614357 144614358 - A INS FREM3 ENST00000329798 human ensembl 74_37 -1 putative splice_site_ins c.5186-3_5186-2 e2-2 1.000:0.000 - - - no_errors FREM3 HGNC ENSG00000183090 tier1 42 0 0.00 13 2 13.33 FUT3 0 genome.wustl.edu 37 19 5844652 5844652 + Missense_Mutation SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 5844652 5844652 G T SNP FUT3 ENST00000303225 human ensembl 74_37 -1 known missense c.199 p.L67I 1.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT3 HGNC ENSG00000171124 16 0 0.00 29 2 6.45 GART 0 genome.wustl.edu 37 21 34903861 34903861 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 21 34903861 34903861 C G SNP GART ENST00000381815 human ensembl 74_37 -1 known missense c.531 p.E177D 0.979 pfam_PRibGlycinamid_synth_ATP-grasp,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 tier1 - - 8 0 0.00 9 4 30.77 GCFC2 0 genome.wustl.edu 37 2 75929334 75929334 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 2 75929334 75929334 C T SNP GCFC2 ENST00000321027 human ensembl 74_37 -1 known missense c.610 p.E204K 1.000 NULL pfam_GCFC_dom - no_errors GCFC2 HGNC ENSG00000005436 tier1 - - 53 0 0.00 44 19 30.16 GGTA1P 0 genome.wustl.edu 37 9 124241446 124241446 + RNA SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 9 124241446 124241446 G A SNP GGTA1P ENST00000373793 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors GGTA1P HGNC ENSG00000204136 tier1 - - 20 0 0.00 15 6 28.57 GLIS1 0 genome.wustl.edu 37 1 53980335 53980335 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 53980335 53980335 G C SNP GLIS1 ENST00000312233 human ensembl 74_37 -1 known missense c.1321 p.L441V 0.994 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC ENSG00000174332 tier1 - - 51 0 0.00 38 16 29.63 GLRA2 0 genome.wustl.edu 37 X 14627271 14627271 + Missense_Mutation SNP A A T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 X 14627271 14627271 A T SNP GLRA2 ENST00000218075 human ensembl 74_37 +1 known missense c.874 p.T292S 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A2,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA2 HGNC ENSG00000101958 tier1 - - 14 0 0.00 10 20 66.67 GPN2 0 genome.wustl.edu 37 1 27216261 27216261 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 27216261 27216261 G A SNP GPN2 ENST00000374135 human ensembl 74_37 -1 known silent c.327 p.F109 1.000 pfam_Uncharacterised_ATP-bd,superfamily_P-loop_NTPase pfam_Uncharacterised_ATP-bd,superfamily_P-loop_NTPase - no_errors GPN2 HGNC ENSG00000142751 tier1 - - 107 0 0.00 86 49 36.30 GRAMD4 0 genome.wustl.edu 37 22 47054198 47054198 + Missense_Mutation SNP A A G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 22 47054198 47054198 A G SNP GRAMD4 ENST00000361034 human ensembl 74_37 +1 known missense c.398 p.K133R 0.997 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD4 HGNC ENSG00000075240 25 0 0.00 27 11 28.95 GRAP2 0 genome.wustl.edu 37 22 40365485 40365485 + Missense_Mutation SNP C C A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 22 40365485 40365485 C A SNP GRAP2 ENST00000344138 human ensembl 74_37 +1 known missense c.761 p.A254E 0.070 NULL pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors GRAP2 HGNC ENSG00000100351 29 0 0.00 38 2 5.00 GRIK2 0 genome.wustl.edu 37 6 102337692 102337692 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 6 102337692 102337692 C T SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known silent c.1702 p.L568 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 tier1 - - 11 0 0.00 20 9 31.03 GRM4 0 genome.wustl.edu 37 6 34003781 34003781 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 6 34003781 34003781 G C SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known missense c.2106 p.I702M 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 tier1 - - 28 0 0.00 35 13 27.08 HAS2 0 genome.wustl.edu 37 8 122626754 122626754 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 8 122626754 122626754 G A SNP HAS2 ENST00000303924 human ensembl 74_37 -1 known silent c.1254 p.L418 1.000 NULL pfam_Chitin_synth_fng - no_errors HAS2 HGNC ENSG00000170961 tier1 - - 21 0 0.00 24 6 20.00 HAS2 0 genome.wustl.edu 37 8 122626768 122626768 + Nonsense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 8 122626768 122626768 G A SNP HAS2 ENST00000303924 human ensembl 74_37 -1 known nonsense c.1240 p.Q414* 1.000 NULL pfam_Chitin_synth_fng - no_errors HAS2 HGNC ENSG00000170961 tier1 - - 24 0 0.00 22 8 26.67 HEATR1 0 genome.wustl.edu 37 1 236740143 236740143 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 236740143 236740143 C T SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known silent c.2862 p.L954 0.061 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 32 0 0.00 32 2 5.88 HHIP 0 genome.wustl.edu 37 4 145640083 145640083 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 4 145640083 145640083 C T SNP HHIP ENST00000296575 human ensembl 74_37 +1 known missense c.1735 p.L579F 1.000 NULL pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 tier1 - - 50 0 0.00 25 10 28.57 HIVEP1 0 genome.wustl.edu 37 6 12121877 12121877 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 6 12121877 12121877 G A SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.1849 p.E617K 0.997 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 tier1 - - 29 0 0.00 35 12 25.53 HMGXB4 0 genome.wustl.edu 37 22 35684359 35684359 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 22 35684359 35684359 G A SNP HMGXB4 ENST00000216106 human ensembl 74_37 +1 known missense c.1597 p.E533K 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGXB4 HGNC ENSG00000100281 tier1 - - 13 0 0.00 14 5 26.32 HOXA3 0 genome.wustl.edu 37 7 27147685 27147685 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 7 27147685 27147685 C T SNP HOXA3 ENST00000317201 human ensembl 74_37 -1 known missense c.1181 p.G394D 0.988 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA3 HGNC ENSG00000105997 16 0 0.00 16 7 30.43 HOXC4 0 genome.wustl.edu 37 12 54447759 54447759 + Missense_Mutation SNP C C A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 12 54447759 54447759 C A SNP HOXC4 ENST00000430889 human ensembl 74_37 +1 known missense c.53 p.P18H 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXC4 Uniprot_gn ENSG00000273266 tier1 - - 61 0 0.00 34 20 37.04 HSDL1 0 genome.wustl.edu 37 16 84163981 84163981 + Silent SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 16 84163981 84163981 G T SNP HSDL1 ENST00000219439 human ensembl 74_37 -1 known silent c.276 p.L92 0.977 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSDL1 HGNC ENSG00000103160 tier1 - - 42 0 0.00 30 13 30.23 IFI27 0 genome.wustl.edu 37 14 94582247 94582247 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 14 94582247 94582247 C T SNP IFI27 ENST00000444961 human ensembl 74_37 +1 known missense c.251 p.S84L 0.022 pfam_IFI6/IFI27 pfam_IFI6/IFI27 - no_errors IFI27 HGNC ENSG00000165949 tier1 - - 79 0 0.00 84 30 26.32 IFITM1 0 genome.wustl.edu 37 11 314322 314322 + Missense_Mutation SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 11 314322 314322 G T SNP IFITM1 ENST00000328221 human ensembl 74_37 +1 known missense c.152 p.C51F 1.000 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors IFITM1 HGNC ENSG00000185885 tier1 - - 75 0 0.00 48 4 7.69 IGF2R 0 genome.wustl.edu 37 6 160501186 160501186 + Silent SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 6 160501186 160501186 C G SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known silent c.5712 p.V1904 1.000 pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 tier1 - - 29 0 0.00 17 12 41.38 IGHMBP2 0 genome.wustl.edu 37 11 68707045 68707045 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 11 68707045 68707045 G C SNP IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known missense c.2828 p.R943T 0.999 NULL pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 tier1 - - 62 0 0.00 67 32 32.32 IGLL1 0 genome.wustl.edu 37 22 23917210 23917210 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 22 23917210 23917210 G C SNP IGLL1 ENST00000330377 human ensembl 74_37 -1 known missense c.266 p.S89C 0.004 NULL pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors IGLL1 HGNC ENSG00000128322 tier1 - - 66 0 0.00 40 16 28.07 INTS7 0 genome.wustl.edu 37 1 212125924 212125924 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 212125924 212125924 G A SNP INTS7 ENST00000440600 human ensembl 74_37 -1 known missense c.2156 p.P719L 1.000 NULL superfamily_ARM-type_fold - no_errors INTS7 HGNC ENSG00000143493 tier1 - - 45 0 0.00 24 11 31.43 ISPD 0 genome.wustl.edu 37 7 16445718 16445718 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 7 16445718 16445718 G C SNP ISPD ENST00000407010 human ensembl 74_37 -1 known missense c.502 p.L168V 0.000 pfam_IspD pfam_IspD - no_errors ISPD HGNC ENSG00000214960 tier1 - - 44 0 0.00 27 17 38.64 JKAMP 0 genome.wustl.edu 37 14 59970584 59970584 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 14 59970584 59970584 C T SNP JKAMP ENST00000356057 human ensembl 74_37 +1 known missense c.754 p.L252F 1.000 pfam_DUF766 pfam_DUF766 - no_errors JKAMP HGNC ENSG00000050130 36 0 0.00 35 2 5.41 JUP 0 genome.wustl.edu 37 17 39777080 39777080 + Nonsense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 39777080 39777080 G A SNP JUP ENST00000540235 human ensembl 74_37 -1 known nonsense c.1489 p.Q497* 0.995 pfam_IF,prints_Keratin_I pfam_IF,pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo,pfscan_Armadillo,prints_Keratin_I,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 tier1 - - 61 0 0.00 51 32 38.10 KALRN 0 genome.wustl.edu 37 3 123813618 123813618 + RNA SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 3 123813618 123813618 C G SNP KALRN ENST00000477496 human ensembl 74_37 +1 known rna NULL NULL 0.287 - - - no_errors KALRN HGNC ENSG00000160145 tier1 - - 46 0 0.00 47 25 34.72 KCNQ3 0 genome.wustl.edu 37 8 133187730 133187730 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 8 133187730 133187730 C G SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known missense c.903 p.E301D 0.999 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 tier1 - - 69 0 0.00 58 19 24.68 KDM4A-AS1 0 genome.wustl.edu 37 1 44169066 44169066 + RNA DEL T T - TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 44169066 44169066 T - DEL KDM4A-AS1 ENST00000453015 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KDM4A-AS1 HGNC ENSG00000236200 tier1 12 0 0.00 12 5 29.41 KDM4C 0 genome.wustl.edu 37 9 7013942 7013942 + Missense_Mutation SNP A A T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 9 7013942 7013942 A T SNP KDM4C ENST00000381309 human ensembl 74_37 +1 known missense c.2123 p.E708V 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 tier1 - - 39 0 0.00 20 11 35.48 KIAA0430 0 genome.wustl.edu 37 16 15692750 15692750 + Missense_Mutation SNP C C A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 16 15692750 15692750 C A SNP KIAA0430 ENST00000396368 human ensembl 74_37 -1 known missense c.4945 p.D1649Y 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 tier1 - - 82 0 0.00 53 19 26.03 KIAA2018 0 genome.wustl.edu 37 3 113376936 113376936 + Missense_Mutation SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 3 113376936 113376936 G T SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.3593 p.S1198Y 0.998 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 tier1 - - 84 0 0.00 48 31 39.24 KIDINS220 0 genome.wustl.edu 37 2 8930037 8930037 + Missense_Mutation SNP A A C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 2 8930037 8930037 A C SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known missense c.1594 p.F532V 1.000 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 tier1 - - 36 0 0.00 22 12 35.29 KIF7 0 genome.wustl.edu 37 15 90171751 90171751 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 15 90171751 90171751 C T SNP KIF7 ENST00000394412 human ensembl 74_37 -1 known missense c.3931 p.E1311K 0.019 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 tier1 - - 27 0 0.00 19 6 24.00 KIF7 0 genome.wustl.edu 37 15 90171829 90171829 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 15 90171829 90171829 C T SNP KIF7 ENST00000394412 human ensembl 74_37 -1 known missense c.3853 p.E1285K 0.995 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 tier1 - - 16 0 0.00 11 4 26.67 KIF7 0 genome.wustl.edu 37 15 90185619 90185619 + Missense_Mutation SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 15 90185619 90185619 G T SNP KIF7 ENST00000394412 human ensembl 74_37 -1 known missense c.2209 p.L737M 0.997 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 39 0 0.00 57 4 6.56 KIFC1 0 genome.wustl.edu 37 6 33374170 33374170 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 6 33374170 33374170 C T SNP KIFC1 ENST00000428849 human ensembl 74_37 +1 known silent c.1734 p.L578 0.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 tier1 - - 55 0 0.00 33 20 37.04 KNTC1 0 genome.wustl.edu 37 12 123030788 123030788 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 12 123030788 123030788 G A SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known silent c.735 p.K245 1.000 superfamily_WD40_repeat_dom pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 tier1 - - 56 0 0.00 43 16 27.12 KRT33A 0 genome.wustl.edu 37 17 39505616 39505616 + Nonsense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 39505616 39505616 G C SNP KRT33A ENST00000007735 human ensembl 74_37 -1 known nonsense c.413 p.S138* 0.587 pfam_IF,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT33A HGNC ENSG00000006059 tier1 - - 94 0 0.00 72 29 28.71 LCMT1 0 genome.wustl.edu 37 16 25186294 25186294 + Silent SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 16 25186294 25186294 G T SNP LCMT1 ENST00000399069 human ensembl 74_37 +1 known silent c.921 p.L307 0.691 pirsf_Leu_CO_MeTrfase_LCMT1 pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCMT1 - no_errors LCMT1 HGNC ENSG00000205629 tier1 - - 22 0 0.00 21 11 34.38 LILRA6 0 genome.wustl.edu 37 19 54744236 54744236 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 54744236 54744236 G A SNP LILRA6 ENST00000419410 human ensembl 74_37 -1 known missense c.1172 p.A391V 0.000 smart_Ig_sub,smart_Ig_sub2 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRA6 HGNC ENSG00000244482 tier1 - - 99 0 0.00 73 31 29.81 LINC00283 0 genome.wustl.edu 37 13 103396902 103396902 + RNA SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 13 103396902 103396902 C G SNP LINC00283 ENST00000430111 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00283 HGNC ENSG00000231633 tier1 - - 45 0 0.00 24 22 47.83 LINC00283 0 genome.wustl.edu 37 13 103397430 103397430 + RNA SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 13 103397430 103397430 C G SNP LINC00283 ENST00000430111 human ensembl 74_37 +1 known rna NULL NULL 0.038 - - - no_errors LINC00283 HGNC ENSG00000231633 tier1 - - 33 0 0.00 26 8 23.53 LMX1B 0 genome.wustl.edu 37 9 129377800 129377800 + Missense_Mutation SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 9 129377800 129377800 G T SNP LMX1B ENST00000355497 human ensembl 74_37 +1 known missense c.278 p.S93I 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1B HGNC ENSG00000136944 36 0 0.00 54 3 5.26 LOC100131825 0 genome.wustl.edu 37 1 159166613 159166613 + RNA DEL T T - TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 159166613 159166613 T - DEL LOC100131825 ENST00000415675 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTA-134P22.2 Clone_based_vega_gene ENSG00000225670 tier1 16 0 0.00 27 5 15.62 LOC101927542 0 genome.wustl.edu 37 1 83912348 83912348 + RNA SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 83912348 83912348 C T SNP LOC101927542 ENST00000446227 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-413G15.1 Clone_based_vega_gene ENSG00000231364 19 0 0.00 16 3 15.79 LRRN2 0 genome.wustl.edu 37 1 204587876 204587876 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 204587876 204587876 C G SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.1245 p.E415D 1.000 smart_Cys-rich_flank_reg_C pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 tier1 - - 33 0 0.00 36 16 30.77 LRRTM3 0 genome.wustl.edu 37 10 68857428 68857428 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 10 68857428 68857428 C T SNP LRRTM3 ENST00000361320 human ensembl 74_37 +1 known silent c.1620 p.L540 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC ENSG00000198739 tier1 - - 67 0 0.00 52 19 26.76 LSM10 0 genome.wustl.edu 37 1 36859680 36859680 + Silent SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 36859680 36859680 C G SNP LSM10 ENST00000315732 human ensembl 74_37 -1 known silent c.51 p.L17 1.000 superfamily_LSM_dom pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM10 HGNC ENSG00000181817 tier1 - - 60 0 0.00 40 15 27.27 LTB4R 0 genome.wustl.edu 37 14 24785316 24785316 + Silent SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 14 24785316 24785316 C G SNP LTB4R ENST00000345363 human ensembl 74_37 +1 known silent c.459 p.L153 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Leukotriene_B4_typ-1_rcpt,prints_Leukotriene_B4_rcpt,prints_GPCR_Rhodpsn - no_errors LTB4R HGNC ENSG00000213903 tier1 - - 22 0 0.00 24 10 29.41 LYSMD1 0 genome.wustl.edu 37 1 151134280 151134280 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 151134280 151134280 C T SNP LYSMD1 ENST00000368908 human ensembl 74_37 -1 known silent c.477 p.K159 1.000 NULL pfam_LysM_dom,smart_LysM_dom - no_errors LYSMD1 HGNC ENSG00000163155 tier1 - - 83 0 0.00 60 39 39.00 MAGEC2 0 genome.wustl.edu 37 X 141290896 141290896 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 X 141290896 141290896 G A SNP MAGEC2 ENST00000247452 human ensembl 74_37 -1 known missense c.878 p.S293F 0.011 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEC2 HGNC ENSG00000046774 tier1 - - 21 0 0.00 44 18 29.03 MAP7D2 0 genome.wustl.edu 37 X 20030483 20030483 + Nonsense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 X 20030483 20030483 G A SNP MAP7D2 ENST00000379643 human ensembl 74_37 -1 known nonsense c.2056 p.Q686* 1.000 NULL pfam_MAP7 - no_errors MAP7D2 HGNC ENSG00000184368 tier1 - - 30 0 0.00 7 15 68.18 MARCH6 0 genome.wustl.edu 37 5 10403651 10403651 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 5 10403651 10403651 G C SNP MARCH6 ENST00000274140 human ensembl 74_37 +1 known missense c.1330 p.E444Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 tier1 - - 49 0 0.00 44 21 32.31 MARK1 0 genome.wustl.edu 37 1 220791681 220791681 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 220791681 220791681 G A SNP MARK1 ENST00000366917 human ensembl 74_37 +1 known missense c.582 p.M194I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK1 HGNC ENSG00000116141 tier1 - - 51 0 0.00 36 14 28.00 MARVELD3 0 genome.wustl.edu 37 16 71668213 71668213 + Missense_Mutation SNP A A G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 16 71668213 71668213 A G SNP MARVELD3 ENST00000268485 human ensembl 74_37 +1 known missense c.713 p.Y238C 1.000 NULL NULL - no_errors MARVELD3 HGNC ENSG00000140832 tier1 - - 23 0 0.00 14 14 50.00 MATN2 0 genome.wustl.edu 37 8 99033468 99033468 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 8 99033468 99033468 G A SNP MATN2 ENST00000254898 human ensembl 74_37 +1 known missense c.1855 p.E619K 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN2 HGNC ENSG00000132561 tier1 - - 48 0 0.00 31 12 27.91 MCHR2 0 genome.wustl.edu 37 6 100395746 100395746 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 6 100395746 100395746 C T SNP MCHR2 ENST00000281806 human ensembl 74_37 -1 known missense c.284 p.R95Q 0.388 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC ENSG00000152034 tier1 - - 34 0 0.00 23 16 40.00 MCPH1 0 genome.wustl.edu 37 8 6289088 6289088 + Nonsense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 8 6289088 6289088 C G SNP MCPH1 ENST00000344683 human ensembl 74_37 +1 known nonsense c.302 p.S101* 0.032 NULL pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 13 0 0.00 5 7 58.33 MED13 0 genome.wustl.edu 37 17 60032879 60032880 + Frame_Shift_Ins INS - - A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 60032879 60032880 - A INS MED13 ENST00000397786 human ensembl 74_37 -1 known frame_shift_ins c.5832_5831 p.M1944fs 1.000:1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 tier1 44 0 0.00 32 26 44.83 METTL25 0 genome.wustl.edu 37 12 82780586 82780586 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 12 82780586 82780586 G C SNP METTL25 ENST00000248306 human ensembl 74_37 +1 known missense c.264 p.M88I 0.009 NULL NULL - no_errors METTL25 HGNC ENSG00000127720 tier1 - - 27 0 0.00 17 12 41.38 METTL2B 0 genome.wustl.edu 37 7 128141942 128141942 + Missense_Mutation SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 7 128141942 128141942 G T SNP METTL2B ENST00000262432 human ensembl 74_37 +1 known missense c.1109 p.C370F 0.943 pirsf_MeTrfase pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase - no_errors METTL2B HGNC ENSG00000165055 tier1 - - 55 0 0.00 44 4 8.16 MIR509-2 0 genome.wustl.edu 37 X 146340315 146340315 + RNA SNP T T G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 X 146340315 146340315 T G SNP MIR509-2 ENST00000390724 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR509-2 HGNC ENSG00000212013 tier1 - - 43 0 0.00 87 39 30.95 MTA3 0 genome.wustl.edu 37 2 42931360 42931360 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 2 42931360 42931360 C G SNP MTA3 ENST00000405094 human ensembl 74_37 +1 known missense c.1052 p.S351C 0.009 NULL pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA3 HGNC ENSG00000057935 tier1 - - 40 0 0.00 29 15 34.09 MTMR4 0 genome.wustl.edu 37 17 56581711 56581711 + Missense_Mutation SNP A A T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 56581711 56581711 A T SNP MTMR4 ENST00000323456 human ensembl 74_37 -1 known missense c.1438 p.L480M 1.000 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR4 HGNC ENSG00000108389 36 0 0.00 30 7 18.92 MTOR 0 genome.wustl.edu 37 1 11288958 11288958 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 11288958 11288958 C T SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.2797 p.E933K 1.000 pfam_DUF3385_TOR,superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 tier1 - - 67 0 0.00 61 23 27.38 MUC16 0 genome.wustl.edu 37 19 9073176 9073176 + Missense_Mutation SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 9073176 9073176 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.14270 p.P4757H 0.003 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 52 0 0.00 43 21 32.81 MYH10 0 genome.wustl.edu 37 17 8393817 8393817 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 8393817 8393817 C T SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.4695 p.M1565I 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 tier1 - - 32 0 0.00 21 9 30.00 MYH7 0 genome.wustl.edu 37 14 23886443 23886443 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 14 23886443 23886443 C G SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.4438 p.E1480Q 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 tier1 - - 35 0 0.00 31 9 22.50 MYLIP 0 genome.wustl.edu 37 6 16129565 16129565 + Silent SNP T T C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 6 16129565 16129565 T C SNP MYLIP ENST00000356840 human ensembl 74_37 +1 known silent c.12 p.Y4 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_N,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,pfscan_Znf_RING,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors MYLIP HGNC ENSG00000007944 tier1 - - 57 0 0.00 35 22 38.60 MYO15A 0 genome.wustl.edu 37 17 18023041 18023041 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 18023041 18023041 C T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known silent c.927 p.Y309 0.089 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 tier1 - - 94 0 0.00 33 33 50.00 MYOT 0 genome.wustl.edu 37 5 137211532 137211532 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 5 137211532 137211532 C T SNP MYOT ENST00000239926 human ensembl 74_37 +1 known missense c.371 p.S124L 0.045 NULL pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYOT HGNC ENSG00000120729 tier1 - - 22 0 0.00 18 7 28.00 MYPN 0 genome.wustl.edu 37 10 69961659 69961659 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 10 69961659 69961659 G A SNP MYPN ENST00000358913 human ensembl 74_37 +1 known silent c.3567 p.V1189 0.993 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYPN HGNC ENSG00000138347 tier1 - - 19 0 0.00 16 7 30.43 NBAS 0 genome.wustl.edu 37 2 15651430 15651430 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 2 15651430 15651430 G A SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.791 p.S264L 0.388 superfamily_Quino_amine_DH_bsu pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 tier1 rs149760582 - 24 0 0.00 10 4 28.57 NBPF20 0 genome.wustl.edu 37 1 148344692 148344692 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 148344692 148344692 G C SNP NBPF20 ENST00000369202 human ensembl 74_37 -1 known missense c.226 p.Q76E 0.059 NULL pfam_NBPF_dom - no_errors NBPF20 HGNC ENSG00000203832 tier1 - - 148 0 0.00 171 35 16.99 NDUFS8 0 genome.wustl.edu 37 11 67800424 67800424 + Nonsense_Mutation SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 11 67800424 67800424 G T SNP NDUFS8 ENST00000531228 human ensembl 74_37 +1 known nonsense c.199 p.E67* 1.000 NULL NULL - no_errors NDUFS8 HGNC ENSG00000110717 tier1 - - 50 0 0.00 52 29 35.80 NEK1 0 genome.wustl.edu 37 4 170523765 170523765 + Missense_Mutation SNP C C A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 4 170523765 170523765 C A SNP NEK1 ENST00000507142 human ensembl 74_37 -1 known missense c.17 p.R6I 0.513 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC ENSG00000137601 36 0 0.00 23 2 8.00 NFATC2 0 genome.wustl.edu 37 20 50048903 50048903 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 20 50048903 50048903 G A SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.2423 p.S808L 0.998 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 tier1 - - 53 0 0.00 67 33 33.00 NFE2L1 0 genome.wustl.edu 37 17 46134843 46134843 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 46134843 46134843 C T SNP NFE2L1 ENST00000362042 human ensembl 74_37 +1 known silent c.951 p.L317 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 tier1 - - 42 0 0.00 27 17 38.64 NFYC 0 genome.wustl.edu 37 1 41218824 41218824 + Missense_Mutation SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 41218824 41218824 G T SNP NFYC ENST00000308733 human ensembl 74_37 +1 known missense c.293 p.R98I 1.000 pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold - no_errors NFYC HGNC ENSG00000066136 35 0 0.00 31 2 6.06 NIPA2 0 genome.wustl.edu 37 15 23034295 23034295 + RNA SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 15 23034295 23034295 G A SNP NIPA2 ENST00000559571 human ensembl 74_37 -1 known rna NULL NULL 0.198 - - - no_errors NIPA2 HGNC ENSG00000140157 tier1 - - 16 0 0.00 18 5 21.74 NLRP5 0 genome.wustl.edu 37 19 56538599 56538599 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 56538599 56538599 G C SNP NLRP5 ENST00000390649 human ensembl 74_37 +1 known missense c.1000 p.E334Q 0.003 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 tier1 - - 32 0 0.00 15 12 44.44 NQO2 0 genome.wustl.edu 37 6 3006787 3006787 + Missense_Mutation SNP A A G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 6 3006787 3006787 A G SNP NQO2 ENST00000338130 human ensembl 74_37 +1 known missense c.1 p.M1V 0.693 NULL pfam_Flavodoxin_fold,pfam_FMN_Rdtase-like - no_errors NQO2 HGNC ENSG00000124588 tier1 rs138748428 - 49 0 0.00 40 26 39.39 NSMAF 0 genome.wustl.edu 37 8 59515783 59515783 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 8 59515783 59515783 G A SNP NSMAF ENST00000427130 human ensembl 74_37 -1 known missense c.1124 p.S375F 0.013 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC ENSG00000035681 tier1 - - 45 0 0.00 34 17 33.33 NUTM1 0 genome.wustl.edu 37 15 34648143 34648143 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 15 34648143 34648143 C T SNP NUTM1 ENST00000333756 human ensembl 74_37 +1 known missense c.1850 p.S617L 0.005 NULL NULL - no_errors NUTM1 HGNC ENSG00000184507 tier1 - - 39 0 0.00 25 15 37.50 OGFR 0 genome.wustl.edu 37 20 61444660 61444660 + Missense_Mutation SNP C C A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 20 61444660 61444660 C A SNP OGFR ENST00000290291 human ensembl 74_37 +1 known missense c.1693 p.R565S 0.000 pfam_OGF_rcpt_rpt pfam_OGF_rcpt,pfam_OGF_rcpt_rpt - no_errors OGFR HGNC ENSG00000060491 19 0 0.00 28 2 6.67 OLFM1 0 genome.wustl.edu 37 9 138011671 138011671 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 9 138011671 138011671 G A SNP OLFM1 ENST00000371793 human ensembl 74_37 +1 known missense c.1105 p.A369T 1.000 pfam_Olfac-like,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM1 HGNC ENSG00000130558 tier1 - - 17 0 0.00 21 9 30.00 OPA1 0 genome.wustl.edu 37 3 193409881 193409881 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 3 193409881 193409881 G C SNP OPA1 ENST00000361510 human ensembl 74_37 +1 known missense c.3013 p.D1005H 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF - no_errors OPA1 HGNC ENSG00000198836 tier1 - - 65 0 0.00 35 43 55.13 OR2AK2 0 genome.wustl.edu 37 1 248129321 248129321 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 248129321 248129321 C G SNP OR2AK2 ENST00000366480 human ensembl 74_37 +1 known missense c.688 p.L230V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AK2 HGNC ENSG00000187080 tier1 - - 60 0 0.00 54 33 37.93 OR4C6 0 genome.wustl.edu 37 11 55432918 55432918 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 11 55432918 55432918 C T SNP OR4C6 ENST00000314259 human ensembl 74_37 +1 known silent c.276 p.L92 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C6 HGNC ENSG00000181903 tier1 - - 22 0 0.00 19 5 20.83 OR4K1 0 genome.wustl.edu 37 14 20404053 20404053 + Silent SNP T T C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 14 20404053 20404053 T C SNP OR4K1 ENST00000285600 human ensembl 74_37 +1 known silent c.228 p.F76 0.870 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K1 HGNC ENSG00000155249 tier1 - - 96 0 0.00 69 18 20.69 OR4N2 0 genome.wustl.edu 37 14 20295898 20295898 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 14 20295898 20295898 C T SNP OR4N2 ENST00000315947 human ensembl 74_37 +1 known silent c.291 p.C97 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N2 HGNC ENSG00000176294 tier1 - - 144 0 0.00 140 37 20.90 OXR1 0 genome.wustl.edu 37 8 107758054 107758054 + Missense_Mutation SNP A A G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 8 107758054 107758054 A G SNP OXR1 ENST00000442977 human ensembl 74_37 +1 known missense c.2453 p.K818R 1.000 pfam_TLDc,smart_TLDc pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors OXR1 HGNC ENSG00000164830 tier1 - - 81 0 0.00 75 4 5.06 PABPC4 0 genome.wustl.edu 37 1 40034566 40034567 + Frame_Shift_Del DEL AT AT - TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 40034566 40034567 AT - DEL PABPC4 ENST00000372858 human ensembl 74_37 -1 known frame_shift_del c.784_783 p.F262fs 1.000:0.999 smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC4 HGNC ENSG00000090621 tier1 42 0 0.00 30 14 31.82 PAPD5 0 genome.wustl.edu 37 16 50261884 50261884 + Silent SNP T T C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 16 50261884 50261884 T C SNP PAPD5 ENST00000436909 human ensembl 74_37 +1 known silent c.1890 p.T630 0.002 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD5 HGNC ENSG00000121274 tier1 - - 47 0 0.00 47 27 36.49 PARL 0 genome.wustl.edu 37 3 183602518 183602518 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 3 183602518 183602518 G A SNP PARL ENST00000317096 human ensembl 74_37 -1 known silent c.117 p.L39 0.748 NULL pfam_Peptidase_S54_rhomboid_dom - no_errors PARL HGNC ENSG00000175193 tier1 - - 95 0 0.00 82 87 51.48 PAX7 0 genome.wustl.edu 37 1 19018262 19018262 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 19018262 19018262 G A SNP PAX7 ENST00000375375 human ensembl 74_37 +1 known missense c.601 p.E201K 1.000 NULL pfam_Paired_dom,pfam_Homeobox_dom,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX7 HGNC ENSG00000009709 tier1 - - 17 0 0.00 16 8 33.33 PCDHB14 0 genome.wustl.edu 37 5 140603611 140603611 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 5 140603611 140603611 C G SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.534 p.F178L 0.883 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 tier1 - - 26 0 0.00 34 11 24.44 PCDHB14 0 genome.wustl.edu 37 5 140603882 140603882 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 5 140603882 140603882 C G SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.805 p.L269V 0.314 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 tier1 - - 28 0 0.00 37 4 9.76 PDPR 0 genome.wustl.edu 37 16 70187389 70187389 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 16 70187389 70187389 G A SNP PDPR ENST00000288050 human ensembl 74_37 +1 known silent c.2148 p.E716 1.000 pfam_GCV_T_N pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom - no_errors PDPR HGNC ENSG00000090857 tier1 - - 59 0 0.00 43 17 28.33 PEX2 0 genome.wustl.edu 37 8 77912372 77912372 + RNA DEL A A - TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 8 77912372 77912372 A - DEL PEX2 ENST00000520203 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors PEX2 HGNC ENSG00000164751 tier1 20 0 0.00 25 3 10.71 PHACTR3 0 genome.wustl.edu 37 20 58342365 58342365 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 20 58342365 58342365 G A SNP PHACTR3 ENST00000371015 human ensembl 74_37 +1 known silent c.666 p.E222 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC ENSG00000087495 tier1 - - 30 0 0.00 22 9 29.03 PHC3 0 genome.wustl.edu 37 3 169820479 169820479 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 3 169820479 169820479 G C SNP PHC3 ENST00000495893 human ensembl 74_37 -1 known missense c.2621 p.S874C 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC3 HGNC ENSG00000173889 tier1 - - 27 0 0.00 18 19 51.35 PI4KAP2 0 genome.wustl.edu 37 22 21846329 21846329 + RNA DEL C C - TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 22 21846329 21846329 C 0 DEL PI4KAP2 ENST00000450651 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors PI4KAP2 HGNC ENSG00000183506 10 0 0.00 4 2 33.33 PIK3CA 0 genome.wustl.edu 37 3 178948136 178948136 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 3 178948136 178948136 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.2908 p.E970K 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 tier1 - - 29 0 0.00 18 15 45.45 PIK3R5 0 genome.wustl.edu 37 17 8791843 8791843 + Missense_Mutation SNP A A T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 8791843 8791843 A T SNP PIK3R5 ENST00000447110 human ensembl 74_37 -1 known missense c.1261 p.F421I 1.000 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R5 HGNC ENSG00000141506 tier1 - - 47 0 0.00 35 19 35.19 PIR 0 genome.wustl.edu 37 X 15403203 15403203 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 X 15403203 15403203 G C SNP PIR ENST00000380420 human ensembl 74_37 -1 known missense c.796 p.Q266E 0.898 pfam_Pirin_C_dom,superfamily_RmlC_Cupin,pirsf_Pirin pfam_Pirin_C_dom,pfam_Pirin_N_dom,superfamily_RmlC_Cupin,pirsf_Pirin - no_errors PIR HGNC ENSG00000087842 tier1 - - 16 0 0.00 6 17 73.91 PKDCC 0 genome.wustl.edu 37 2 42281407 42281407 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 2 42281407 42281407 G A SNP PKDCC ENST00000294964 human ensembl 74_37 +1 known missense c.994 p.E332K 0.999 pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors PKDCC HGNC ENSG00000162878 tier1 rs201349790 - 27 0 0.00 10 13 56.52 PKM 0 genome.wustl.edu 37 15 72502159 72502159 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 15 72502159 72502159 G A SNP PKM ENST00000319622 human ensembl 74_37 -1 known silent c.420 p.L140 0.601 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase-like_insert_dom,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKM HGNC ENSG00000067225 tier1 - - 46 0 0.00 37 28 43.08 PLA2G2A 0 genome.wustl.edu 37 1 20305040 20305040 + RNA SNP T T C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 20305040 20305040 T C SNP PLA2G2A ENST00000496748 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PLA2G2A HGNC ENSG00000188257 tier1 - - 63 0 0.00 55 29 34.12 PLEKHG5 0 genome.wustl.edu 37 1 6530391 6530391 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 6530391 6530391 C G SNP PLEKHG5 ENST00000537245 human ensembl 74_37 -1 known missense c.1942 p.D648H 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 tier1 - - 41 0 0.00 36 23 38.98 PLK3 0 genome.wustl.edu 37 1 45269890 45269890 + Silent SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 45269890 45269890 G C SNP PLK3 ENST00000372201 human ensembl 74_37 +1 known silent c.1314 p.L438 0.988 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK3 HGNC ENSG00000173846 tier1 - - 29 0 0.00 24 11 31.43 PNN 0 genome.wustl.edu 37 14 39651779 39651779 + RNA SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 14 39651779 39651779 C T SNP PNN ENST00000557680 human ensembl 74_37 +1 known rna NULL NULL 0.219 - - - no_errors PNN HGNC ENSG00000100941 tier1 - - 8 0 0.00 8 5 38.46 PNPLA3 0 genome.wustl.edu 37 22 44330533 44330533 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 22 44330533 44330533 C T SNP PNPLA3 ENST00000216180 human ensembl 74_37 +1 known silent c.744 p.F248 1.000 superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA3 HGNC ENSG00000100344 tier1 - - 90 0 0.00 57 24 29.63 PPP1R37 0 genome.wustl.edu 37 19 45649660 45649660 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 45649660 45649660 C T SNP PPP1R37 ENST00000221462 human ensembl 74_37 +1 known missense c.2006 p.S669F 0.969 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors PPP1R37 HGNC ENSG00000104866 tier1 - - 54 0 0.00 50 16 24.24 PRIM1 0 genome.wustl.edu 37 12 57140622 57140622 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 12 57140622 57140622 G C SNP PRIM1 ENST00000338193 human ensembl 74_37 -1 known missense c.385 p.P129A 0.923 pfam_DNA_primase_S,tigrfam_DNA_primase_ssu_euk/arc pfam_DNA_primase_S,tigrfam_DNA_primase_ssu_euk/arc - no_errors PRIM1 HGNC ENSG00000198056 tier1 - - 82 0 0.00 48 39 44.83 PRM2 0 genome.wustl.edu 37 16 11370120 11370120 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 16 11370120 11370120 C T SNP PRM2 ENST00000241808 human ensembl 74_37 -1 known silent c.108 p.L36 0.002 pfam_Protamine_P2 pfam_Protamine_P2 - no_errors PRM2 HGNC ENSG00000122304 tier1 - - 68 0 0.00 61 31 33.70 PRMT7 0 genome.wustl.edu 37 16 68371375 68371376 + Frame_Shift_Ins INS - - T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 16 68371375 68371376 - T INS PRMT7 ENST00000339507 human ensembl 74_37 +1 known frame_shift_ins c.405_406 p.C135fs 0.724:0.757 pirsf_Arg_MeTrfase_PRMT7 pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7 - no_errors PRMT7 HGNC ENSG00000132600 tier1 58 0 0.00 29 15 34.09 PRPF8 0 genome.wustl.edu 37 17 1561597 1561597 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 1561597 1561597 G C SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known missense c.5455 p.L1819V 1.000 pfam_PRP8_domainIV pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 tier1 - - 94 0 0.00 102 38 26.95 PRR23B 0 genome.wustl.edu 37 3 138739278 138739278 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 3 138739278 138739278 C T SNP PRR23B ENST00000329447 human ensembl 74_37 -1 known missense c.226 p.V76I 0.015 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23B HGNC ENSG00000184814 tier1 - - 32 0 0.00 27 4 12.90 PRRC2A 0 genome.wustl.edu 37 6 31600709 31600709 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 6 31600709 31600709 G C SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.4259 p.G1420A 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 tier1 - - 35 0 0.00 17 17 50.00 PSMC4 0 genome.wustl.edu 37 19 40478056 40478056 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 40478056 40478056 G A SNP PSMC4 ENST00000157812 human ensembl 74_37 +1 known missense c.40 p.E14K 1.000 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC4 HGNC ENSG00000013275 tier1 - - 18 0 0.00 29 10 25.64 PTENP1 0 genome.wustl.edu 37 9 33676330 33676330 + RNA SNP T T C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 9 33676330 33676330 T C SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 tier1 - - 73 0 0.00 24 34 58.62 PTPN11 0 genome.wustl.edu 37 12 112924299 112924299 + Silent SNP C C A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 12 112924299 112924299 C A SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known silent c.1245 p.V415 0.984 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 tier1 - - 34 0 0.00 22 14 38.89 PTPN13 0 genome.wustl.edu 37 4 87686556 87686556 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 4 87686556 87686556 G A SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known silent c.4173 p.V1391 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 tier1 - - 54 0 0.00 15 27 64.29 PTPRQ 0 genome.wustl.edu 37 12 80900352 80900352 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 12 80900352 80900352 G A SNP PTPRQ ENST00000266688 human ensembl 74_37 +1 known silent c.2448 p.L816 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRQ HGNC ENSG00000139304 tier1 - - 41 0 0.00 17 6 26.09 PTPRU 0 genome.wustl.edu 37 1 29631863 29631863 + Splice_Site SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 29631863 29631863 G A SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known splice_site c.2774-1 e19-1 1.000 - - - no_errors PTPRU HGNC ENSG00000060656 tier1 - - 25 0 0.00 15 12 44.44 PXN 0 genome.wustl.edu 37 12 120651990 120651990 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 12 120651990 120651990 G A SNP PXN ENST00000267257 human ensembl 74_37 -1 known missense c.1351 p.H451Y 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin - no_errors PXN HGNC ENSG00000089159 tier1 - - 42 0 0.00 27 24 46.15 PYGM 0 genome.wustl.edu 37 11 64527313 64527313 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 11 64527313 64527313 C G SNP PYGM ENST00000164139 human ensembl 74_37 -1 known missense c.58 p.A20P 1.000 pirsf_Glyco_trans_35 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC ENSG00000068976 tier1 - - 52 0 0.00 55 24 30.38 RBM24 0 genome.wustl.edu 37 6 17292448 17292449 + RNA INS - - AAA TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 6 17292448 17292449 - AAA INS RBM24 ENST00000504055 human ensembl 74_37 +1 known rna NULL NULL 0.997:0.915 - - - no_errors RBM24 HGNC ENSG00000112183 tier1 10 0 0.00 6 3 33.33 RFX5 0 genome.wustl.edu 37 1 151314765 151314765 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 151314765 151314765 C T SNP RFX5 ENST00000290524 human ensembl 74_37 -1 known missense c.1748 p.G583E 0.013 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 tier1 - - 22 0 0.00 18 11 37.93 RGS11 0 genome.wustl.edu 37 16 320792 320792 + Nonsense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 16 320792 320792 G A SNP RGS11 ENST00000397770 human ensembl 74_37 -1 known nonsense c.1018 p.R340* 0.996 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS11 HGNC ENSG00000076344 tier1 - - 307 0 0.00 221 127 36.49 RNF185 0 genome.wustl.edu 37 22 31592935 31592935 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 22 31592935 31592935 C G SNP RNF185 ENST00000326132 human ensembl 74_37 +1 known missense c.322 p.P108A 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF185 HGNC ENSG00000138942 tier1 - - 50 0 0.00 39 18 31.58 RPF1 0 genome.wustl.edu 37 1 84961569 84961569 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 84961569 84961569 G C SNP RPF1 ENST00000370654 human ensembl 74_37 +1 known missense c.704 p.R235T 1.000 pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors RPF1 HGNC ENSG00000117133 tier1 - - 19 0 0.00 18 7 28.00 RPL10L 0 genome.wustl.edu 37 14 47120593 47120593 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 14 47120593 47120593 C G SNP RPL10L ENST00000298283 human ensembl 74_37 -1 known missense c.347 p.R116P 1.000 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10L HGNC ENSG00000165496 tier1 - - 72 0 0.00 41 15 26.79 RPRM 0 genome.wustl.edu 37 2 154334906 154334906 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 2 154334906 154334906 C T SNP RPRM ENST00000325926 human ensembl 74_37 -1 known silent c.174 p.Q58 1.000 NULL NULL - no_errors RPRM HGNC ENSG00000177519 tier1 - - 25 0 0.00 30 14 31.82 RPS6KA6 0 genome.wustl.edu 37 X 83361419 83361419 + Missense_Mutation SNP C C A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 X 83361419 83361419 C A SNP RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known missense c.1319 p.C440F 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA6 HGNC ENSG00000072133 tier1 - - 18 0 0.00 21 19 47.50 RSF1 0 genome.wustl.edu 37 11 77383154 77383154 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 11 77383154 77383154 C T SNP RSF1 ENST00000308488 human ensembl 74_37 -1 known silent c.3684 p.K1228 0.961 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC ENSG00000048649 tier1 - - 54 0 0.00 17 20 54.05 RTBDN 0 genome.wustl.edu 37 19 12940696 12940696 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 12940696 12940696 G C SNP RTBDN ENST00000322912 human ensembl 74_37 -1 known missense c.194 p.P65R 0.085 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors RTBDN HGNC ENSG00000132026 tier1 - - 61 0 0.00 59 27 31.40 RUNDC3B 0 genome.wustl.edu 37 7 87436700 87436700 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 7 87436700 87436700 G A SNP RUNDC3B ENST00000338056 human ensembl 74_37 +1 known silent c.1020 p.K340 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 tier1 - - 50 0 0.00 36 17 32.08 RUNX1T1 0 genome.wustl.edu 37 8 93074912 93074912 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 8 93074912 93074912 G A SNP RUNX1T1 ENST00000517493 human ensembl 74_37 -1 known silent c.114 p.S38 1.000 NULL NULL - no_errors RUNX1T1 HGNC ENSG00000079102 tier1 - - 30 0 0.00 22 12 35.29 RYR1 0 genome.wustl.edu 37 19 39062663 39062663 + Nonsense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 39062663 39062663 C G SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known nonsense c.13751 p.S4584* 1.000 pfam_Ryanrecept_TM4-6 pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 41 0 0.00 36 20 35.71 SACS 0 genome.wustl.edu 37 13 23913508 23913508 + Missense_Mutation SNP T T C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 13 23913508 23913508 T C SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.4507 p.M1503V 1.000 superfamily_HATPase_ATP-bd pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 38 0 0.00 12 11 47.83 SARM1 0 genome.wustl.edu 37 17 26723220 26723220 + Missense_Mutation SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 26723220 26723220 G T SNP SARM1 ENST00000457710 human ensembl 74_37 +1 novel missense c.1988 p.R663L 1.000 smart_TIR_dom pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM - no_errors SARM1 HGNC ENSG00000004139 13 0 0.00 22 2 8.33 SCAPER 0 genome.wustl.edu 37 15 77057706 77057706 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 15 77057706 77057706 C G SNP SCAPER ENST00000324767 human ensembl 74_37 -1 known missense c.1585 p.E529Q 1.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 tier1 - - 28 0 0.00 21 14 40.00 SCAPER 0 genome.wustl.edu 37 15 77067388 77067388 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 15 77067388 77067388 C T SNP SCAPER ENST00000324767 human ensembl 74_37 -1 known silent c.843 p.V281 0.230 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 tier1 - - 42 0 0.00 33 20 37.74 SCARNA7 0 genome.wustl.edu 37 3 160232848 160232848 + RNA SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 3 160232848 160232848 C T SNP SCARNA7 ENST00000458797 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SCARNA7 HGNC ENSG00000238741 tier1 - - 25 0 0.00 28 7 20.00 SCEL 0 genome.wustl.edu 37 13 78191993 78191993 + Nonsense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 13 78191993 78191993 C T SNP SCEL ENST00000349847 human ensembl 74_37 +1 known nonsense c.1567 p.Q523* 0.972 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors SCEL HGNC ENSG00000136155 tier1 - - 22 0 0.00 18 13 41.94 SGK494 0 genome.wustl.edu 37 17 26938832 26938832 + RNA SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 26938832 26938832 G C SNP SGK494 ENST00000526073 human ensembl 74_37 -1 known rna NULL NULL 0.016 - - - no_errors SGK494 Clone_based_vega_gene ENSG00000167524 tier1 - - 39 0 0.00 29 13 30.95 SLC16A4 0 genome.wustl.edu 37 1 110931944 110931944 + Missense_Mutation SNP A A G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 110931944 110931944 A G SNP SLC16A4 ENST00000369779 human ensembl 74_37 -1 known missense c.2 p.M1T 1.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A4 HGNC ENSG00000168679 tier1 - - 31 0 0.00 17 7 29.17 SLC16A7 0 genome.wustl.edu 37 12 60173438 60173438 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 12 60173438 60173438 C T SNP SLC16A7 ENST00000261187 human ensembl 74_37 +1 known missense c.1415 p.S472L 1.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A7 HGNC ENSG00000118596 tier1 - - 40 0 0.00 31 4 11.43 SLC18A1 0 genome.wustl.edu 37 8 20036783 20036783 + Missense_Mutation SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 8 20036783 20036783 G T SNP SLC18A1 ENST00000276373 human ensembl 74_37 -1 known missense c.337 p.P113T 0.188 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R - no_errors SLC18A1 HGNC ENSG00000036565 tier1 - - 87 0 0.00 57 4 6.56 SLC1A6 0 genome.wustl.edu 37 19 15083545 15083545 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 15083545 15083545 G A SNP SLC1A6 ENST00000430939 human ensembl 74_37 -1 putative missense c.191 p.S64F 1.000 NULL pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 tier1 - - 32 0 0.00 23 5 17.86 SLC24A1 0 genome.wustl.edu 37 15 65943238 65943238 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 15 65943238 65943238 C T SNP SLC24A1 ENST00000261892 human ensembl 74_37 +1 known silent c.2751 p.I917 0.878 tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A1 HGNC ENSG00000074621 tier1 - - 39 0 0.00 35 10 22.22 SLC29A4 0 genome.wustl.edu 37 7 5336607 5336607 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 7 5336607 5336607 G A SNP SLC29A4 ENST00000297195 human ensembl 74_37 +1 known silent c.660 p.T220 1.000 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC ENSG00000164638 tier1 - - 58 0 0.00 72 6 7.69 SLC44A2 0 genome.wustl.edu 37 19 10747198 10747198 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 10747198 10747198 C T SNP SLC44A2 ENST00000335757 human ensembl 74_37 +1 known missense c.1433 p.A478V 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A2 HGNC ENSG00000129353 tier1 - - 45 0 0.00 21 16 43.24 SLC7A13 0 genome.wustl.edu 37 8 87229753 87229753 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 8 87229753 87229753 C T SNP SLC7A13 ENST00000297524 human ensembl 74_37 -1 known missense c.1125 p.M375I 0.000 pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A13 HGNC ENSG00000164893 tier1 - - 53 0 0.00 17 13 43.33 SMC2 0 genome.wustl.edu 37 9 106901433 106901433 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 9 106901433 106901433 C T SNP SMC2 ENST00000286398 human ensembl 74_37 +1 known missense c.3431 p.S1144L 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 16 0 0.00 14 9 39.13 SNAPC4 0 genome.wustl.edu 37 9 139282959 139282959 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 9 139282959 139282959 C T SNP SNAPC4 ENST00000298532 human ensembl 74_37 -1 known missense c.1060 p.D354N 1.000 superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 tier1 - - 28 0 0.00 20 12 37.50 SNF8 0 genome.wustl.edu 37 17 47007863 47007863 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 47007863 47007863 C G SNP SNF8 ENST00000502492 human ensembl 74_37 -1 known missense c.751 p.E251Q 1.000 NULL pfam_EAP30,pirsf_ESCRT-2_cplx_Snf8 - no_errors SNF8 HGNC ENSG00000159210 tier1 - - 43 0 0.00 37 19 33.93 SNORD114-5 0 genome.wustl.edu 37 14 101421716 101421716 + RNA SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 14 101421716 101421716 G A SNP SNORD114-5 ENST00000362928 human ensembl 74_37 +1 known rna NULL NULL 0.050 - - - no_errors SNORD114-5 HGNC ENSG00000199798 tier1 - - 48 0 0.00 27 19 41.30 SRP54 0 genome.wustl.edu 37 14 35480717 35480717 + Missense_Mutation SNP A A G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 14 35480717 35480717 A G SNP SRP54 ENST00000216774 human ensembl 74_37 +1 known missense c.488 p.Y163C 1.000 pfam_SRP54_GTPase_dom,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk pfam_SRP54_GTPase_dom,pfam_Signal_recog_particle_SRP54_M,pfam_Signal_recog_particl_SRP54_hlx,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP54_M,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk - no_errors SRP54 HGNC ENSG00000100883 tier1 - - 39 0 0.00 26 6 18.75 STPG1 0 genome.wustl.edu 37 1 24710447 24710447 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 24710447 24710447 G A SNP STPG1 ENST00000337248 human ensembl 74_37 -1 known missense c.236 p.P79L 0.931 NULL NULL - no_errors STPG1 HGNC ENSG00000001460 tier1 rs138455088 - 51 0 0.00 26 20 43.48 STRADA 0 genome.wustl.edu 37 17 61780982 61780982 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 61780982 61780982 C G SNP STRADA ENST00000336174 human ensembl 74_37 -1 known missense c.1273 p.E425Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STRADA HGNC ENSG00000266173 tier1 - - 30 0 0.00 28 28 50.00 SUV420H2 0 genome.wustl.edu 37 19 55853307 55853307 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 55853307 55853307 G A SNP SUV420H2 ENST00000255613 human ensembl 74_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H2 HGNC ENSG00000133247 tier1 - - 61 0 0.00 58 35 37.63 SV2C 0 genome.wustl.edu 37 5 75427799 75427799 + Nonsense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 5 75427799 75427799 C G SNP SV2C ENST00000502798 human ensembl 74_37 +1 known nonsense c.224 p.S75* 1.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2C HGNC ENSG00000122012 tier1 - - 29 0 0.00 6 9 60.00 SYNJ1 0 genome.wustl.edu 37 21 34011322 34011322 + Missense_Mutation SNP T T A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 21 34011322 34011322 T A SNP SYNJ1 ENST00000433931 human ensembl 74_37 -1 known missense c.3928 p.M1310L 0.000 NULL pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC ENSG00000159082 tier1 - - 82 0 0.00 85 31 26.72 SYNRG 0 genome.wustl.edu 37 17 35900600 35900600 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 35900600 35900600 C T SNP SYNRG ENST00000339208 human ensembl 74_37 -1 known missense c.3248 p.R1083H 0.997 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 tier1 - - 73 0 0.00 35 22 38.60 SYTL2 0 genome.wustl.edu 37 11 85437481 85437481 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 11 85437481 85437481 C T SNP SYTL2 ENST00000359152 human ensembl 74_37 -1 known missense c.1591 p.E531K 0.010 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 tier1 - - 29 0 0.00 16 10 38.46 TAF6L 0 genome.wustl.edu 37 11 62554015 62554015 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 11 62554015 62554015 G A SNP TAF6L ENST00000294168 human ensembl 74_37 +1 known missense c.1116 p.M372I 1.000 NULL pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd - no_errors TAF6L HGNC ENSG00000162227 tier1 - - 12 0 0.00 14 4 22.22 TBC1D10B 0 genome.wustl.edu 37 16 30380585 30380585 + Missense_Mutation SNP T T C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 16 30380585 30380585 T C SNP TBC1D10B ENST00000409939 human ensembl 74_37 -1 known missense c.920 p.Y307C 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10B HGNC ENSG00000169221 tier1 - - 40 0 0.00 33 32 49.23 TBC1D29 0 genome.wustl.edu 37 17 28890301 28890301 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 28890301 28890301 G A SNP TBC1D29 ENST00000579181 human ensembl 74_37 +1 known missense c.311 p.S104N 0.904 NULL superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D29 HGNC ENSG00000266733 33 0 0.00 42 5 10.64 TBC1D29 0 genome.wustl.edu 37 17 28890361 28890361 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 28890361 28890361 G A SNP TBC1D29 ENST00000579181 human ensembl 74_37 +1 known missense c.371 p.R124Q 0.562 NULL superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D29 HGNC ENSG00000266733 22 0 0.00 26 2 7.14 TEK 0 genome.wustl.edu 37 9 27158043 27158043 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 9 27158043 27158043 G C SNP TEK ENST00000380036 human ensembl 74_37 +1 known missense c.267 p.K89N 1.000 pfam_Tyr_kin_Tie2_Ig-like_dom-1_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 tier1 - - 79 0 0.00 22 36 62.07 TEX11 0 genome.wustl.edu 37 X 69871378 69871378 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 X 69871378 69871378 C T SNP TEX11 ENST00000344304 human ensembl 74_37 -1 known missense c.1450 p.E484K 0.173 smart_TPR_repeat pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC ENSG00000120498 tier1 - - 23 0 0.00 13 27 67.50 THAP3 0 genome.wustl.edu 37 1 6693086 6693086 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 6693086 6693086 C G SNP THAP3 ENST00000054650 human ensembl 74_37 +1 known missense c.669 p.C223W 0.004 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP3 HGNC ENSG00000041988 tier1 - - 22 0 0.00 30 14 31.82 THAP9-AS1 0 genome.wustl.edu 37 4 83821709 83821709 + RNA SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 4 83821709 83821709 G A SNP THAP9-AS1 ENST00000503704 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors THAP9-AS1 HGNC ENSG00000251022 tier1 - - 8 0 0.00 10 10 50.00 TIE1 0 genome.wustl.edu 37 1 43783285 43783285 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 43783285 43783285 C T SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known silent c.2671 p.L891 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 22 0 0.00 28 3 9.68 TMEM177 0 genome.wustl.edu 37 2 120443383 120443383 + RNA SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 2 120443383 120443383 C T SNP TMEM177 ENST00000496203 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TMEM177 HGNC ENSG00000144120 tier1 - - 54 0 0.00 28 12 30.00 TNFAIP8 0 genome.wustl.edu 37 5 118729075 118729075 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 5 118729075 118729075 G A SNP TNFAIP8 ENST00000504771 human ensembl 74_37 +1 known silent c.596 p.*199 0.999 NULL pfam_DUF758 - no_errors TNFAIP8 HGNC ENSG00000145779 tier1 - - 51 0 0.00 12 16 57.14 TNRC18 0 genome.wustl.edu 37 7 5427355 5427355 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 7 5427355 5427355 C T SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known silent c.2100 p.L700 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 tier1 - - 20 0 0.00 31 11 26.19 TNS4 0 genome.wustl.edu 37 17 38652532 38652532 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 38652532 38652532 C T SNP TNS4 ENST00000254051 human ensembl 74_37 -1 known missense c.146 p.G49E 1.000 NULL pfam_PTB,pfam_SH2,smart_SH2,smart_PTB/PI_dom,pfscan_SH2 - no_errors TNS4 HGNC ENSG00000131746 tier1 - - 9 0 0.00 13 9 40.91 TOP3B 0 genome.wustl.edu 37 22 22322028 22322028 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 22 22322028 22322028 G A SNP TOP3B ENST00000357179 human ensembl 74_37 -1 known missense c.799 p.R267W 1.000 pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3B HGNC ENSG00000100038 45 0 0.00 48 3 5.88 TP53 0 genome.wustl.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 7578212 7578212 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.637 p.R213* 0.893 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 461 0 0.00 299 179 37.45 TP53 0 genome.wustl.edu 37 17 7578527 7578527 + Missense_Mutation SNP A A G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 7578527 7578527 A G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.403 p.C135R 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 287 0 0.00 202 135 40.06 TPM3 0 genome.wustl.edu 37 1 154155547 154155547 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 154155547 154155547 G A SNP TPM3 ENST00000330188 human ensembl 74_37 -1 known silent c.49 p.L17 1.000 pfam_Tropomyosin pfam_Tropomyosin,superfamily_HR1_rho-bd,prints_Tropomyosin - no_errors TPM3 HGNC ENSG00000143549 tier1 - - 35 0 0.00 35 17 32.69 TPRXL 0 genome.wustl.edu 37 3 14106434 14106434 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 3 14106434 14106434 G A SNP TPRXL ENST00000326972 human ensembl 74_37 +1 known silent c.758 p.*253 0.000 NULL NULL - no_errors TPRXL HGNC ENSG00000180438 tier1 - - 36 0 0.00 43 15 25.86 TRHDE 0 genome.wustl.edu 37 12 72956810 72956810 + Nonsense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 12 72956810 72956810 C T SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known nonsense c.1897 p.Q633* 0.925 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 17 0 0.00 12 5 29.41 TRIOBP 0 genome.wustl.edu 37 22 38109392 38109392 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 22 38109392 38109392 G C SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.430 p.D144H 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 22 0 0.00 22 3 12.00 TRPM4 0 genome.wustl.edu 37 19 49705305 49705305 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 49705305 49705305 C T SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known missense c.3038 p.S1013F 0.211 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 tier1 - - 32 0 0.00 36 15 29.41 TRPV5 0 genome.wustl.edu 37 7 142612479 142612479 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 7 142612479 142612479 G A SNP TRPV5 ENST00000265310 human ensembl 74_37 -1 known silent c.1284 p.I428 1.000 prints_TRPV5/TRPV6,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV5,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV5 HGNC ENSG00000127412 tier1 - - 40 0 0.00 16 12 42.86 TRRAP 0 genome.wustl.edu 37 7 98509816 98509816 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 7 98509816 98509816 G A SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.2179 p.E727K 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 tier1 - - 74 0 0.00 55 29 34.52 TSC2 0 genome.wustl.edu 37 16 2127484 2127484 + RNA SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 16 2127484 2127484 C T SNP TSC2 ENST00000568366 human ensembl 74_37 +1 known rna NULL NULL 0.982 - - - no_errors TSC2 HGNC ENSG00000103197 tier1 - - 23 0 0.00 23 8 25.81 TTLL7 0 genome.wustl.edu 37 1 84335655 84335655 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 84335655 84335655 C T SNP TTLL7 ENST00000260505 human ensembl 74_37 -1 known missense c.2654 p.G885D 0.999 NULL pfam_TTL/TTLL_fam - no_errors TTLL7 HGNC ENSG00000137941 tier1 - - 46 0 0.00 72 4 5.26 TTN 0 genome.wustl.edu 37 2 179667001 179667001 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 2 179667001 179667001 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.159 p.G53 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 40 0 0.00 43 19 30.16 TUBA3D 0 genome.wustl.edu 37 2 132237645 132237645 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 2 132237645 132237645 G A SNP TUBA3D ENST00000321253 human ensembl 74_37 +1 known missense c.379 p.D127N 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3D HGNC ENSG00000075886 tier1 - - 93 0 0.00 50 27 35.06 TUBGCP2 0 genome.wustl.edu 37 10 135111525 135111525 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 10 135111525 135111525 C G SNP TUBGCP2 ENST00000543663 human ensembl 74_37 -1 known missense c.547 p.E183Q 1.000 NULL pfam_TUBGCP,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 tier1 - - 64 0 0.00 25 19 43.18 TXNRD1 0 genome.wustl.edu 37 12 104742133 104742133 + Silent SNP A A G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 12 104742133 104742133 A G SNP TXNRD1 ENST00000429002 human ensembl 74_37 +1 known silent c.1884 p.V628 0.256 pfam_Pyr_nucl-diS_OxRdtase_dimer,superfamily_FAD/NAD-linked_Rdtase_dimer,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 tier1 - - 59 0 0.00 45 15 25.00 USP24 0 genome.wustl.edu 37 1 55557762 55557762 + Frame_Shift_Del DEL T T - TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 55557762 55557762 T - DEL USP24 ENST00000407756 human ensembl 74_37 -1 known frame_shift_del c.6008 p.K2003fs 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 tier1 51 0 0.00 37 2 5.13 USP28 0 genome.wustl.edu 37 11 113672343 113672343 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 11 113672343 113672343 C T SNP USP28 ENST00000003302 human ensembl 74_37 -1 known missense c.2920 p.E974K 0.999 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 tier1 - - 33 0 0.00 14 20 58.82 VCL 0 genome.wustl.edu 37 10 75802874 75802874 + Nonsense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 10 75802874 75802874 C T SNP VCL ENST00000211998 human ensembl 74_37 +1 known nonsense c.202 p.Q68* 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 tier1 - - 64 0 0.00 26 18 40.91 VPS13C 0 genome.wustl.edu 37 15 62207918 62207918 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 15 62207918 62207918 C G SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.8359 p.E2787Q 1.000 pfam_VPSAP_dom pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 tier1 - - 39 0 0.00 21 9 30.00 VTA1 0 genome.wustl.edu 37 6 142525187 142525187 + Missense_Mutation SNP A A C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 6 142525187 142525187 A C SNP VTA1 ENST00000367630 human ensembl 74_37 +1 known missense c.763 p.N255H 0.979 NULL NULL - no_errors VTA1 HGNC ENSG00000009844 tier1 - - 61 0 0.00 46 31 40.26 VWA3A 0 genome.wustl.edu 37 16 22149768 22149768 + Nonsense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 16 22149768 22149768 C T SNP VWA3A ENST00000389398 human ensembl 74_37 +1 known nonsense c.2227 p.Q743* 0.074 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 tier1 - - 58 0 0.00 38 19 33.33 VWA5B2 0 genome.wustl.edu 37 3 183958839 183958839 + Missense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 3 183958839 183958839 C T SNP VWA5B2 ENST00000426955 human ensembl 74_37 +1 known missense c.2906 p.P969L 0.002 NULL NULL - no_errors VWA5B2 HGNC ENSG00000145198 tier1 - - 27 0 0.00 29 13 30.95 WDR87 0 genome.wustl.edu 37 19 38383553 38383553 + Silent SNP G G T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 38383553 38383553 G T SNP WDR87 ENST00000447313 human ensembl 74_37 -1 known silent c.2790 p.V930 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 tier1 - - 49 0 0.00 62 4 6.06 WDR91 0 genome.wustl.edu 37 7 134878362 134878362 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 7 134878362 134878362 G A SNP WDR91 ENST00000354475 human ensembl 74_37 -1 known silent c.1458 p.L486 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR91 HGNC ENSG00000105875 tier1 - - 81 0 0.00 72 21 22.58 WNT10A 0 genome.wustl.edu 37 2 219757942 219757942 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 2 219757942 219757942 C T SNP WNT10A ENST00000258411 human ensembl 74_37 +1 known silent c.1203 p.F401 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt10 - no_errors WNT10A HGNC ENSG00000135925 tier1 - - 39 0 0.00 17 20 54.05 XPNPEP2 0 genome.wustl.edu 37 X 128885744 128885744 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 X 128885744 128885744 G C SNP XPNPEP2 ENST00000371106 human ensembl 74_37 +1 known missense c.763 p.D255H 1.000 NULL pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP2 HGNC ENSG00000122121 tier1 - - 49 0 0.00 32 35 52.24 YBX1 0 genome.wustl.edu 37 1 43162401 43162401 + Missense_Mutation SNP A A G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 43162401 43162401 A G SNP YBX1 ENST00000321358 human ensembl 74_37 +1 known missense c.443 p.Y148C 1.000 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors YBX1 HGNC ENSG00000065978 tier1 - - 65 0 0.00 51 30 37.04 YBX2 0 genome.wustl.edu 37 17 7193791 7193791 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 17 7193791 7193791 G A SNP YBX2 ENST00000007699 human ensembl 74_37 -1 known missense c.523 p.P175S 1.000 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors YBX2 HGNC ENSG00000006047 tier1 - - 60 0 0.00 40 28 40.58 ZBTB17 0 genome.wustl.edu 37 1 16271287 16271287 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 16271287 16271287 G A SNP ZBTB17 ENST00000375733 human ensembl 74_37 -1 known silent c.975 p.I325 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 9 0 0.00 13 3 18.75 ZC3H12B 0 genome.wustl.edu 37 X 64722232 64722232 + Missense_Mutation SNP T T C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 X 64722232 64722232 T C SNP ZC3H12B ENST00000338957 human ensembl 74_37 +1 known missense c.1654 p.F552L 1.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 tier1 - - 18 0 0.00 5 21 80.77 ZNF14 0 genome.wustl.edu 37 19 19823885 19823885 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 19823885 19823885 C G SNP ZNF14 ENST00000344099 human ensembl 74_37 -1 known missense c.205 p.E69Q 0.673 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF14 HGNC ENSG00000105708 tier1 - - 49 0 0.00 46 17 26.98 ZNF197 0 genome.wustl.edu 37 3 44671001 44671001 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 3 44671001 44671001 G A SNP ZNF197 ENST00000344387 human ensembl 74_37 +1 known missense c.355 p.E119K 0.995 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF197 HGNC ENSG00000186448 tier1 - - 19 0 0.00 39 16 29.09 ZNF223 0 genome.wustl.edu 37 19 44559295 44559295 + Nonsense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 44559295 44559295 C G SNP ZNF223 ENST00000591793 human ensembl 74_37 +1 known nonsense c.296 p.S99* 0.001 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF223 Uniprot_gn ENSG00000267022 tier1 - - 52 0 0.00 36 22 37.93 ZNF292 0 genome.wustl.edu 37 6 87970002 87970002 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 6 87970002 87970002 G A SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.6655 p.D2219N 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 tier1 - - 43 0 0.00 26 18 40.91 ZNF335 0 genome.wustl.edu 37 20 44579100 44579100 + Silent SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 20 44579100 44579100 G A SNP ZNF335 ENST00000322927 human ensembl 74_37 -1 known silent c.3324 p.C1108 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 tier1 - - 70 0 0.00 64 4 5.80 ZNF517 0 genome.wustl.edu 37 8 146032926 146032926 + Missense_Mutation SNP G G C TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 8 146032926 146032926 G C SNP ZNF517 ENST00000359971 human ensembl 74_37 +1 known missense c.625 p.E209Q 0.591 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF517 HGNC ENSG00000197363 tier1 - - 51 0 0.00 45 16 26.23 ZNF546 0 genome.wustl.edu 37 19 40521329 40521329 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 40521329 40521329 G A SNP ZNF546 ENST00000347077 human ensembl 74_37 +1 known missense c.2152 p.E718K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF546 HGNC ENSG00000187187 tier1 - - 39 0 0.00 28 16 36.36 ZNF569 0 genome.wustl.edu 37 19 37904952 37904952 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 37904952 37904952 C G SNP ZNF569 ENST00000316950 human ensembl 74_37 -1 known missense c.608 p.R203T 0.007 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF569 HGNC ENSG00000196437 tier1 - - 55 0 0.00 29 6 17.14 ZNF597 0 genome.wustl.edu 37 16 3487023 3487023 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 16 3487023 3487023 G A SNP ZNF597 ENST00000301744 human ensembl 74_37 -1 known missense c.676 p.H226Y 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF597 HGNC ENSG00000167981 tier1 - - 45 0 0.00 12 14 53.85 ZNF695 0 genome.wustl.edu 37 1 247151124 247151124 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 1 247151124 247151124 C T SNP ZNF695 ENST00000339986 human ensembl 74_37 -1 known silent c.693 p.K231 0.496 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF695 HGNC ENSG00000197472 tier1 - - 37 0 0.00 26 18 40.91 ZNF710 0 genome.wustl.edu 37 15 90610643 90610643 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 15 90610643 90610643 G A SNP ZNF710 ENST00000268154 human ensembl 74_37 +1 known missense c.274 p.E92K 0.988 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 tier1 - - 77 0 0.00 55 25 31.25 ZNF728 0 genome.wustl.edu 37 19 23158499 23158499 + Nonsense_Mutation SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 23158499 23158499 C T SNP ZNF728 ENST00000594710 human ensembl 74_37 -1 novel nonsense c.1640 p.W547* 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF728 HGNC ENSG00000269067 tier1 - - 21 0 0.00 13 4 23.53 ZNF791 0 genome.wustl.edu 37 19 12739636 12739636 + Missense_Mutation SNP G G A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 19 12739636 12739636 G A SNP ZNF791 ENST00000343325 human ensembl 74_37 +1 known missense c.1293 p.M431I 0.009 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF791 HGNC ENSG00000173875 tier1 - - 80 0 0.00 67 40 37.38 ZNF92 0 genome.wustl.edu 37 7 64863308 64863308 + Missense_Mutation SNP C C A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c633253f-7f42-4fa0-bd73-2d24487c0acd 4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2 7 64863308 64863308 C A SNP ZNF92 ENST00000328747 human ensembl 74_37 +1 known missense c.281 p.S94Y 0.062 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF92 HGNC ENSG00000146757 39 0 0.00 31 2 6.06