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 ACAP3 116983 genome.wustl.edu 37 1 1231134 1231134 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 1231134 1231134 C G SNP ACAP3 ENST00000353662 human ensembl 70_37 -1 known missense c.1561 p.V521L 0.016 NULL pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP3 HGNC ACIN1 22985 genome.wustl.edu 37 14 23537773 23537773 + RNA SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 23537773 23537773 G T SNP ACIN1 ENST00000555352 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ACIN1 HGNC ACTBL2 345651 genome.wustl.edu 37 5 56778417 56778417 + Nonsense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 5 56778417 56778417 G A SNP ACTBL2 ENST00000423391 human ensembl 70_37 -1 known nonsense c.118 p.R40* 0.999 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTBL2 HGNC ADAM21P1 145241 genome.wustl.edu 37 14 70712497 70712497 + RNA SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 70712497 70712497 G A SNP ADAM21P1 ENST00000530196 human ensembl 70_37 -1 known rna NULL NULL 0.312 - - - no_errors ADAM21P1 HGNC ADAMTS17 170691 genome.wustl.edu 37 15 100589078 100589078 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 15 100589078 100589078 G A SNP ADAMTS17 ENST00000268070 human ensembl 70_37 -1 known missense c.2575 p.H859Y 0.995 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ADAMTS7 11173 genome.wustl.edu 37 15 79065434 79065434 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 15 79065434 79065434 C T SNP ADAMTS7 ENST00000388820 human ensembl 70_37 -1 known missense c.2122 p.E708K 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ADAMTSL4 54507 genome.wustl.edu 37 1 150525459 150525459 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 150525459 150525459 C T SNP ADAMTSL4 ENST00000369039 human ensembl 70_37 +1 known missense c.164 p.S55F 0.997 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ADIPOR2 79602 genome.wustl.edu 37 12 1882007 1882007 + Splice_Site SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 1882007 1882007 G A SNP ADIPOR2 ENST00000357103 human ensembl 70_37 +1 known splice_site c.172-1 e2-1 0.996 - - - no_errors ADIPOR2 HGNC AGAP1 116987 genome.wustl.edu 37 2 236649682 236649682 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 2 236649682 236649682 C T SNP AGAP1 ENST00000304032 human ensembl 70_37 +1 known missense c.386 p.P129L 1.000 pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC AHCTF1 25909 genome.wustl.edu 37 1 247061639 247061639 + Splice_Site SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 247061639 247061639 C T SNP AHCTF1 ENST00000326225 human ensembl 70_37 -1 known splice_site c.1522-1 e12-1 1.000 - - - no_errors AHCTF1 HGNC ALPK1 80216 genome.wustl.edu 37 4 113352413 113352413 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 4 113352413 113352413 C T SNP ALPK1 ENST00000177648 human ensembl 70_37 +1 known silent c.1710 p.F570 0.000 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC AMOT 154796 genome.wustl.edu 37 X 112058973 112058973 + Silent SNP T T A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc X 112058973 112058973 T A SNP AMOT ENST00000371959 human ensembl 70_37 -1 known silent c.1005 p.R335 0.970 NULL pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ARHGAP21 57584 genome.wustl.edu 37 10 24889722 24889722 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 10 24889722 24889722 C G SNP ARHGAP21 ENST00000396432 human ensembl 70_37 -1 known missense c.2985 p.L995F 0.795 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ARHGAP6 395 genome.wustl.edu 37 X 11308548 11308548 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc X 11308548 11308548 G A SNP ARHGAP6 ENST00000380732 human ensembl 70_37 -1 known silent c.639 p.S213 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ATRX 546 genome.wustl.edu 37 X 76939255 76939255 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc X 76939255 76939255 C G SNP ATRX ENST00000373344 human ensembl 70_37 -1 known missense c.1493 p.R498T 0.953 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC BAI3 577 genome.wustl.edu 37 6 69728348 69728348 + Silent SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 69728348 69728348 G T SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known silent c.2064 p.G688 0.985 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC BCL9L 283149 genome.wustl.edu 37 11 118772555 118772555 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 118772555 118772555 C T SNP BCL9L ENST00000334801 human ensembl 70_37 -1 known missense c.1897 p.V633M 0.795 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC BEND3 57673 genome.wustl.edu 37 6 107391786 107391786 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 107391786 107391786 C T SNP BEND3 ENST00000369042 human ensembl 70_37 -1 known silent c.609 p.L203 0.993 NULL pfam_BEN_domain - no_errors BEND3 HGNC C16orf80 29105 genome.wustl.edu 37 16 58149340 58149340 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 58149340 58149340 G A SNP C16orf80 ENST00000262498 human ensembl 70_37 -1 known missense c.298 p.R100C 1.000 pfam_DUF667 pfam_DUF667 - no_errors C16orf80 HGNC C16orf90 646174 genome.wustl.edu 37 16 3544829 3544829 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 3544829 3544829 G A SNP C16orf90 ENST00000437192 human ensembl 70_37 -1 known missense c.95 p.P32L 0.985 NULL NULL - no_errors C16orf90 HGNC C17orf99 100141515 genome.wustl.edu 37 17 76160238 76160238 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 76160238 76160238 G A SNP C17orf99 ENST00000340363 human ensembl 70_37 +1 known missense c.433 p.E145K 0.031 NULL NULL - no_errors C17orf99 HGNC MROH8 140699 genome.wustl.edu 37 20 35752160 35752160 + Nonsense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 20 35752160 35752160 G A SNP C20orf132 ENST00000400441 human ensembl 70_37 -1 known nonsense c.1828 p.R610* 0.081 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C20orf132 HGNC CACNG8 59283 genome.wustl.edu 37 19 54466619 54466619 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 54466619 54466619 G C SNP CACNG8 ENST00000270458 human ensembl 70_37 +1 known missense c.223 p.E75Q 0.974 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g8su,prints_Claudin - no_errors CACNG8 HGNC CAGE1 285782 genome.wustl.edu 37 6 7386054 7386054 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 7386054 7386054 C T SNP CAGE1 ENST00000338150 human ensembl 70_37 -1 known missense c.247 p.E83K 0.015 NULL NULL - no_errors CAGE1 HGNC CAPZA3 93661 genome.wustl.edu 37 12 18891478 18891478 + Missense_Mutation SNP C C A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 18891478 18891478 C A SNP CAPZA3 ENST00000317658 human ensembl 70_37 +1 known missense c.276 p.F92L 1.000 pfam_WASH_F-actin_cap_alpha pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha - no_errors CAPZA3 HGNC CARD8 22900 genome.wustl.edu 37 19 48689853 48689853 + RNA SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 48689853 48689853 C T SNP CARD8 ENST00000600800 human ensembl 70_37 -1 known rna NULL NULL 0.034 - - - no_errors CARD8 HGNC CASZ1 54897 genome.wustl.edu 37 1 10699179 10699179 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 10699179 10699179 G C SNP CASZ1 ENST00000377022 human ensembl 70_37 -1 known missense c.5100 p.D1700E 0.941 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC CCKBR 887 genome.wustl.edu 37 11 6291485 6291485 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 6291485 6291485 G A SNP CCKBR ENST00000525462 human ensembl 70_37 +1 known missense c.571 p.V191M 0.928 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC CD19 930 genome.wustl.edu 37 16 28950050 28950050 + Missense_Mutation SNP C C A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 28950050 28950050 C A SNP CD19 ENST00000538922 human ensembl 70_37 +1 known missense c.1543 p.R515S 0.960 NULL smart_Ig_sub,pfscan_Ig-like - no_errors CD19 HGNC CDCA2 157313 genome.wustl.edu 37 8 25341481 25341481 + Splice_Site SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 8 25341481 25341481 G C SNP CDCA2 ENST00000330560 human ensembl 70_37 +1 known splice_site c.1121-1 e9-1 0.009 - - - no_errors CDCA2 HGNC CDH8 1006 genome.wustl.edu 37 16 61689423 61689423 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 61689423 61689423 G A SNP CDH8 ENST00000577390 human ensembl 70_37 -1 known silent c.1857 p.L619 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC CDHR2 54825 genome.wustl.edu 37 5 176011691 176011691 + Missense_Mutation SNP C C A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 5 176011691 176011691 C A SNP CDHR2 ENST00000261944 human ensembl 70_37 +1 known missense c.2409 p.D803E 0.001 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC CDKL1 8814 genome.wustl.edu 37 14 50844422 50844422 + RNA SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 50844422 50844422 G A SNP CDKL1 ENST00000356146 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CDKL1 HGNC CGRRF1 10668 genome.wustl.edu 37 14 54996927 54996927 + Silent SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 54996927 54996927 C G SNP CGRRF1 ENST00000216420 human ensembl 70_37 +1 known silent c.405 p.L135 0.954 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors CGRRF1 HGNC CHD2 1106 genome.wustl.edu 37 15 93528871 93528871 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 15 93528871 93528871 C T SNP CHD2 ENST00000557381 human ensembl 70_37 +1 putative silent c.3381 p.L1127 0.399 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC CHFR 55743 genome.wustl.edu 37 12 133454168 133454168 + Nonsense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 133454168 133454168 G C SNP CHFR ENST00000266880 human ensembl 70_37 -1 known nonsense c.206 p.S69* 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING - no_errors CHFR HGNC CLDN18 51208 genome.wustl.edu 37 3 137717717 137717717 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 3 137717717 137717717 G A SNP CLDN18 ENST00000343735 human ensembl 70_37 +1 known missense c.7 p.V3M 0.983 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin - no_errors CLDN18 HGNC CLVS2 134829 genome.wustl.edu 37 6 123319253 123319253 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 123319253 123319253 C G SNP CLVS2 ENST00000275162 human ensembl 70_37 +1 known missense c.331 p.L111V 0.997 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS2 HGNC COL12A1 1303 genome.wustl.edu 37 6 75813485 75813485 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 75813485 75813485 G A SNP COL12A1 ENST00000322507 human ensembl 70_37 -1 known silent c.8307 p.I2769 0.993 pfam_Collagen pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC COMP 1311 genome.wustl.edu 37 19 18899092 18899092 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 18899092 18899092 C T SNP COMP ENST00000222271 human ensembl 70_37 -1 known missense c.904 p.D302N 1.000 pfam_Thrombospondin_3-like_rpt pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors COMP HGNC CPPED1 55313 genome.wustl.edu 37 16 12758794 12758794 + Silent SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 12758794 12758794 C G SNP CPPED1 ENST00000381774 human ensembl 70_37 -1 known silent c.894 p.L298 0.997 NULL pfam_Metallo_PEstase_dom - no_errors CPPED1 HGNC CR1 1378 genome.wustl.edu 37 1 207697066 207697066 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 207697066 207697066 G A SNP CR1 ENST00000367049 human ensembl 70_37 +1 known missense c.598 p.G200R 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC CREB3L2 64764 genome.wustl.edu 37 7 137567265 137567265 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 7 137567265 137567265 G A SNP CREB3L2 ENST00000330387 human ensembl 70_37 -1 known silent c.1380 p.L460 0.229 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L2 HGNC CRHR2 1395 genome.wustl.edu 37 7 30721614 30721614 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 7 30721614 30721614 G A SNP CRHR2 ENST00000348438 human ensembl 70_37 -1 known missense c.227 p.T76M 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF2_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR2 HGNC CRYGS 1427 genome.wustl.edu 37 3 186262102 186262102 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 3 186262102 186262102 C G SNP CRYGS ENST00000307944 human ensembl 70_37 -1 known missense c.14 p.G5A 0.985 superfamily_G_crystallin-rel pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGS HGNC CSRP2 1466 genome.wustl.edu 37 12 77253379 77253379 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 77253379 77253379 C G SNP CSRP2 ENST00000311083 human ensembl 70_37 -1 known missense c.453 p.K151N 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors CSRP2 HGNC CSRP2BP 57325 genome.wustl.edu 37 20 18143136 18143136 + Silent SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 20 18143136 18143136 C G SNP CSRP2BP ENST00000278816 human ensembl 70_37 +1 known silent c.1218 p.G406 0.000 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC CTSS 1520 genome.wustl.edu 37 1 150737223 150737223 + Missense_Mutation SNP C C A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 150737223 150737223 C A SNP CTSS ENST00000368985 human ensembl 70_37 -1 known missense c.17 p.C6F 0.000 NULL pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSS HGNC CXCR3 2833 genome.wustl.edu 37 X 70837348 70837348 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc X 70837348 70837348 G C SNP CXCR3 ENST00000373691 human ensembl 70_37 -1 known missense c.115 p.L39V 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR3,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_Chemokine_rcpt,prints_ATII_rcpt - no_errors CXCR3 HGNC CYP2S1 29785 genome.wustl.edu 37 19 41704766 41704766 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 41704766 41704766 C T SNP CYP2S1 ENST00000310054 human ensembl 70_37 +1 known silent c.807 p.V269 0.070 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B - no_errors CYP2S1 HGNC CYP3A7 1551 genome.wustl.edu 37 7 99313407 99313407 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 7 99313407 99313407 G A SNP CYP3A7 ENST00000336374 human ensembl 70_37 -1 known missense c.644 p.P215L 0.004 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A7 HGNC DCHS1 8642 genome.wustl.edu 37 11 6661921 6661921 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 6661921 6661921 G A SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known silent c.924 p.D308 0.044 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC DCLRE1A 9937 genome.wustl.edu 37 10 115610108 115610108 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 10 115610108 115610108 G C SNP DCLRE1A ENST00000361384 human ensembl 70_37 -1 known missense c.756 p.I252M 0.000 NULL pfam_DRMBL - no_errors DCLRE1A HGNC DLC1 10395 genome.wustl.edu 37 8 13356877 13356877 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 8 13356877 13356877 C T SNP DLC1 ENST00000276297 human ensembl 70_37 -1 known missense c.704 p.R235Q 0.998 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC DPP3 10072 genome.wustl.edu 37 11 66264946 66264946 + Nonsense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 66264946 66264946 C T SNP DPP3 ENST00000360510 human ensembl 70_37 +1 known nonsense c.1876 p.Q626* 1.000 pirsf_Dipeptidyl-peptase3 pirsf_Dipeptidyl-peptase3 - no_errors DPP3 HGNC DPY19L1 23333 genome.wustl.edu 37 7 35009108 35009108 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 7 35009108 35009108 G A SNP DPY19L1 ENST00000310974 human ensembl 70_37 -1 known silent c.732 p.L244 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L1 HGNC DPYD 1806 genome.wustl.edu 37 1 97658667 97658667 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 97658667 97658667 C T SNP DPYD ENST00000370192 human ensembl 70_37 -1 known silent c.2580 p.Q860 1.000 NULL 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 DSCAML1 57453 genome.wustl.edu 37 11 117392107 117392107 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 117392107 117392107 C T SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known silent c.1131 p.V377 1.000 pfam_Ig_I-set,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC MICU2 221154 genome.wustl.edu 37 13 22178093 22178093 + Silent SNP A A G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 13 22178093 22178093 A G SNP EFHA1 ENST00000382374 human ensembl 70_37 -1 known silent c.195 p.F65 0.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFHA1 HGNC ENSG00000184774 0 genome.wustl.edu 37 1 202795002 202795002 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 202795002 202795002 C G SNP ENSG00000184774 ENST00000330493 human ensembl 70_37 +1 known missense c.368 p.A123G 0.000 NULL pfam_Glyco_transf_54 - no_errors RP11-480I12.4 Clone_based_vega_gene ENSG00000232274 0 genome.wustl.edu 37 1 143209472 143209472 + RNA SNP T T C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 143209472 143209472 T C SNP ENSG00000232274 ENST00000412204 human ensembl 70_37 -1 known rna NULL NULL 0.587 - - - no_errors BX571672.2 Clone_based_vega_gene ENSG00000246250 0 genome.wustl.edu 37 11 43852428 43852428 + RNA SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 43852428 43852428 C T SNP ENSG00000246250 ENST00000499066 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-613D13.5 Clone_based_vega_gene ENSG00000259648 0 genome.wustl.edu 37 14 68083197 68083198 + RNA INS - - A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 68083197 68083198 - A INS ENSG00000259648 ENST00000559968 human ensembl 70_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors RP11-643G16.4 Clone_based_vega_gene ENTPD4 9583 genome.wustl.edu 37 8 23292045 23292046 + RNA DEL CA CA - TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 8 23292045 23292046 CA - DEL ENTPD4 ENST00000522913 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ENTPD4 HGNC EPB41L1 2036 genome.wustl.edu 37 20 34778276 34778276 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 20 34778276 34778276 C T SNP EPB41L1 ENST00000338074 human ensembl 70_37 +1 known silent c.1104 p.I368 0.133 pfam_FERM_PH-like_C,pirsf_Band_41_protein,pfscan_FERM_domain pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L1 HGNC EPRS 2058 genome.wustl.edu 37 1 220152022 220152022 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 220152022 220152022 C G SNP EPRS ENST00000366923 human ensembl 70_37 -1 known missense c.3949 p.E1317Q 1.000 pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Pro-tRNA-ligase_IIa_arc-type pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk - no_errors EPRS HGNC ABHD17B 51104 genome.wustl.edu 37 9 74485111 74485111 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 9 74485111 74485111 G A SNP FAM108B1 ENST00000377041 human ensembl 70_37 -1 known missense c.535 p.L179F 1.000 pfam_Peptidase_S9,pfam_Dienelactn_hydro pfam_Peptidase_S9,pfam_Dienelactn_hydro - no_errors FAM108B1 HGNC FAM129A 116496 genome.wustl.edu 37 1 184765013 184765013 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 184765013 184765013 C T SNP FAM129A ENST00000367511 human ensembl 70_37 -1 known missense c.1885 p.E629K 0.020 NULL NULL - no_errors FAM129A HGNC FAM134A 79137 genome.wustl.edu 37 2 220046965 220046965 + Missense_Mutation SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 2 220046965 220046965 G T SNP FAM134A ENST00000430297 human ensembl 70_37 +1 known missense c.1246 p.G416W 1.000 NULL pfam_Reticulon - no_errors FAM134A HGNC SMIM11 54065 genome.wustl.edu 37 21 35774492 35774492 + RNA DEL T T - TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 21 35774492 35774492 T - DEL FAM165B ENST00000481710 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors FAM165B HGNC FAM222B 55731 genome.wustl.edu 37 17 27086173 27086173 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 27086173 27086173 G C SNP FAM222B ENST00000341217 human ensembl 70_37 -1 known missense c.804 p.I268M 1.000 NULL NULL - no_errors FAM222B HGNC FAM43B 163933 genome.wustl.edu 37 1 20879728 20879728 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 20879728 20879728 G C SNP FAM43B ENST00000332947 human ensembl 70_37 +1 known missense c.262 p.D88H 1.000 smart_PTyr_interaction_dom smart_PTyr_interaction_dom - no_errors FAM43B HGNC FANCB 2187 genome.wustl.edu 37 X 14862067 14862067 + Silent SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc X 14862067 14862067 G C SNP FANCB ENST00000324138 human ensembl 70_37 -1 known silent c.2202 p.L734 0.489 NULL NULL - no_errors FANCB HGNC FBXO16 157574 genome.wustl.edu 37 8 28218599 28218599 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 8 28218599 28218599 G A SNP FBXO16 ENST00000521548 human ensembl 70_37 -1 known missense c.944 p.P315L 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO16 HGNC FCGR1B 2210 genome.wustl.edu 37 1 120928571 120928571 + RNA SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 120928571 120928571 G A SNP FCGR1B ENST00000471609 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FCGR1B HGNC FHAD1 114827 genome.wustl.edu 37 1 15684702 15684702 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 15684702 15684702 G A SNP FHAD1 ENST00000375999 human ensembl 70_37 +1 known missense c.2593 p.E865K 0.020 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC FIP1L1 81608 genome.wustl.edu 37 4 54319248 54319249 + Frame_Shift_Del DEL AG AG - TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 4 54319248 54319249 AG - DEL FIP1L1 ENST00000337488 human ensembl 70_37 +1 known frame_shift_del c.1447_1448 p.E486fs 0.975:0.991 NULL pfam_Fip1 - no_errors FIP1L1 HGNC FPR2 2358 genome.wustl.edu 37 19 52272399 52272399 + Missense_Mutation SNP T T G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 52272399 52272399 T G SNP FPR2 ENST00000340023 human ensembl 70_37 +1 known missense c.488 p.F163C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Anphylx_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Frt_met_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_P2_purnocptor,prints_DEZorph_rcpt - no_errors FPR2 HGNC FRMPD3 84443 genome.wustl.edu 37 X 106844623 106844623 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc X 106844623 106844623 C T SNP FRMPD3 ENST00000276185 human ensembl 70_37 +1 known silent c.3453 p.L1151 0.686 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC FSTL5 56884 genome.wustl.edu 37 4 162841709 162841709 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 4 162841709 162841709 C G SNP FSTL5 ENST00000306100 human ensembl 70_37 -1 known missense c.256 p.E86Q 1.000 NULL pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL5 HGNC FUCA2 2519 genome.wustl.edu 37 6 143825101 143825101 + Missense_Mutation SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 143825101 143825101 G T SNP FUCA2 ENST00000002165 human ensembl 70_37 -1 known missense c.701 p.P234Q 0.997 pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub - no_errors FUCA2 HGNC FUT3 2525 genome.wustl.edu 37 19 5844263 5844263 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 5844263 5844263 C T SNP FUT3 ENST00000303225 human ensembl 70_37 -1 known silent c.588 p.A196 0.910 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT3 HGNC FZR1 51343 genome.wustl.edu 37 19 3532541 3532541 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 3532541 3532541 G C SNP FZR1 ENST00000395095 human ensembl 70_37 +1 known missense c.1135 p.D379H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FZR1 HGNC GCC1 79571 genome.wustl.edu 37 7 127222899 127222899 + Silent SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 7 127222899 127222899 G T SNP GCC1 ENST00000321407 human ensembl 70_37 -1 known silent c.1497 p.A499 0.989 NULL pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC GGA2 23062 genome.wustl.edu 37 16 23478655 23478655 + RNA SNP C C A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 23478655 23478655 C A SNP GGA2 ENST00000566685 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors GGA2 HGNC GLI3 2737 genome.wustl.edu 37 7 42006024 42006024 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 7 42006024 42006024 C T SNP GLI3 ENST00000395925 human ensembl 70_37 -1 known missense c.2647 p.E883K 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC GLP2R 9340 genome.wustl.edu 37 17 9783806 9783806 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 9783806 9783806 C T SNP GLP2R ENST00000262441 human ensembl 70_37 +1 known silent c.1257 p.F419 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GLP2R HGNC GNAO1 2775 genome.wustl.edu 37 16 56370671 56370671 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 56370671 56370671 G C SNP GNAO1 ENST00000262493 human ensembl 70_37 +1 known missense c.622 p.E208Q 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAO1 HGNC GNPAT 8443 genome.wustl.edu 37 1 231396396 231396396 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 231396396 231396396 G A SNP GNPAT ENST00000366647 human ensembl 70_37 +1 known silent c.405 p.S135 0.296 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GNPAT HGNC GPR107 57720 genome.wustl.edu 37 9 132862907 132862907 + Splice_Site SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 9 132862907 132862907 G A SNP GPR107 ENST00000372406 human ensembl 70_37 +1 known splice_site c.940-1 e11-1 1.000 - - - no_errors GPR107 HGNC GPR137C 283554 genome.wustl.edu 37 14 53066913 53066913 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 53066913 53066913 G A SNP GPR137C ENST00000321662 human ensembl 70_37 +1 known missense c.571 p.D191N 1.000 NULL NULL - no_errors GPR137C HGNC GPR156 165829 genome.wustl.edu 37 3 119892198 119892198 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 3 119892198 119892198 C T SNP GPR156 ENST00000315843 human ensembl 70_37 -1 known silent c.1053 p.P351 0.004 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B - no_errors GPR156 HGNC GRHPR 9380 genome.wustl.edu 37 9 37428495 37428495 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 9 37428495 37428495 C T SNP GRHPR ENST00000377824 human ensembl 70_37 +1 known missense c.419 p.S140L 0.996 pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd,pfam_NADP_OxRdtase_F420 - no_errors GRHPR HGNC HEPN1 641654 genome.wustl.edu 37 11 124789809 124789809 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 124789809 124789809 C T SNP HEPN1 ENST00000408930 human ensembl 70_37 +1 known missense c.163 p.H55Y 0.019 NULL NULL - no_errors HEPN1 HGNC HILS1 373861 genome.wustl.edu 37 17 48248955 48248955 + RNA SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 48248955 48248955 G T SNP HILS1 ENST00000504307 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors HILS1 HGNC HIST1H2BG 8339 genome.wustl.edu 37 6 26216847 26216847 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 26216847 26216847 G A SNP HIST1H2BG ENST00000244601 human ensembl 70_37 -1 known missense c.25 p.P9S 0.997 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BG HGNC HIST1H4E 8367 genome.wustl.edu 37 6 26205062 26205062 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 26205062 26205062 G A SNP HIST1H4E ENST00000360441 human ensembl 70_37 +1 known missense c.190 p.E64K 1.000 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4E HGNC HLA-DMA 3108 genome.wustl.edu 37 6 32917176 32917176 + Missense_Mutation SNP A A G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 32917176 32917176 A G SNP HLA-DMA ENST00000374843 human ensembl 70_37 -1 known missense c.653 p.V218A 1.000 NULL pfam_MHC_II_a_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DMA HGNC HNF1B 6928 genome.wustl.edu 37 17 36059118 36059118 + Missense_Mutation SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 36059118 36059118 G T SNP HNF1B ENST00000225893 human ensembl 70_37 -1 known missense c.1617 p.S539R 1.000 pfam_HNF1b_C pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain - no_errors HNF1B HGNC IDH3A 3419 genome.wustl.edu 37 15 78454651 78454651 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 15 78454651 78454651 G C SNP IDH3A ENST00000299518 human ensembl 70_37 +1 known missense c.553 p.E185Q 1.000 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD - no_errors IDH3A HGNC IDUA 3425 genome.wustl.edu 37 4 997845 997845 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 4 997845 997845 G A SNP IDUA ENST00000453894 human ensembl 70_37 +1 known silent c.1839 p.A613 0.000 superfamily_Fibronectin_type3 pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39 - no_errors IDUA HGNC IL11RA 3590 genome.wustl.edu 37 9 34656836 34656836 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 9 34656836 34656836 G A SNP IL11RA ENST00000318041 human ensembl 70_37 +1 known missense c.262 p.D88N 0.823 smart_Ig_sub,pfscan_Ig-like superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IL11RA HGNC IL17RD 54756 genome.wustl.edu 37 3 57139966 57139966 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 3 57139966 57139966 C T SNP IL17RD ENST00000296318 human ensembl 70_37 -1 known silent c.666 p.P222 0.561 NULL pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC IL27RA 9466 genome.wustl.edu 37 19 14153355 14153355 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 14153355 14153355 C T SNP IL27RA ENST00000263379 human ensembl 70_37 +1 known missense c.625 p.R209W 0.890 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL27RA HGNC ITPR2 3709 genome.wustl.edu 37 12 26639267 26639267 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 26639267 26639267 C G SNP ITPR2 ENST00000381340 human ensembl 70_37 -1 known missense c.5581 p.E1861Q 1.000 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd - no_errors ITPR2 HGNC KCNAB1 7881 genome.wustl.edu 37 3 155755532 155755532 + RNA SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 3 155755532 155755532 C G SNP KCNAB1 ENST00000477912 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors KCNAB1 HGNC KDM5A 5927 genome.wustl.edu 37 12 416705 416705 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 416705 416705 C T SNP KDM5A ENST00000399788 human ensembl 70_37 -1 known missense c.3845 p.R1282H 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC KIAA1109 84162 genome.wustl.edu 37 4 123094304 123094304 + Missense_Mutation SNP A A T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 4 123094304 123094304 A T SNP KIAA1109 ENST00000264501 human ensembl 70_37 +1 known missense c.211 p.I71F 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC KIAA1239 57495 genome.wustl.edu 37 4 37445135 37445135 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 4 37445135 37445135 C G SNP KIAA1239 ENST00000309447 human ensembl 70_37 +1 known missense c.1525 p.L509V 0.963 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC KIAA1549 57670 genome.wustl.edu 37 7 138566166 138566166 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 7 138566166 138566166 C G SNP KIAA1549 ENST00000422774 human ensembl 70_37 -1 known missense c.4197 p.K1399N 0.942 NULL NULL - no_errors KIAA1549 HGNC KIAA1704 55425 genome.wustl.edu 37 13 45563760 45563760 + RNA SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 13 45563760 45563760 C T SNP KIAA1704 ENST00000479068 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors KIAA1704 HGNC KIAA1755 85449 genome.wustl.edu 37 20 36846737 36846737 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 20 36846737 36846737 C T SNP KIAA1755 ENST00000279024 human ensembl 70_37 -1 known missense c.2588 p.R863Q 0.008 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC KIAA2022 340533 genome.wustl.edu 37 X 73960742 73960742 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc X 73960742 73960742 C T SNP KIAA2022 ENST00000055682 human ensembl 70_37 -1 known missense c.3650 p.R1217H 1.000 NULL NULL - no_errors KIAA2022 HGNC KIF24 347240 genome.wustl.edu 37 9 34257704 34257704 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 9 34257704 34257704 C G SNP KIF24 ENST00000379166 human ensembl 70_37 -1 known missense c.1901 p.R634T 0.852 NULL pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC KIR2DL3 3804 genome.wustl.edu 37 19 55263147 55263147 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 55263147 55263147 C T SNP KIR2DL3 ENST00000342376 human ensembl 70_37 +1 known silent c.762 p.I254 0.008 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL3 HGNC KIR3DS1 3813 genome.wustl.edu 37 GL000209.1 84092 84092 + Nonstop_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc GL000209.1 84092 84092 G C SNP KIR3DS1 ENST00000400847 human ensembl 70_37 +1 known nonstop c.1163 p.*388S NULL NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DS1 HGNC LAMA4 3910 genome.wustl.edu 37 6 112575049 112575049 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 112575049 112575049 C G SNP LAMA4 ENST00000368638 human ensembl 70_37 -1 known missense c.304 p.E102Q 0.000 NULL NULL - no_errors LAMA4 HGNC LARP4B 23185 genome.wustl.edu 37 10 909788 909788 + Nonsense_Mutation SNP C C A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 10 909788 909788 C A SNP LARP4B ENST00000316157 human ensembl 70_37 -1 known nonsense c.325 p.E109* 0.926 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC LDLRAD4 753 genome.wustl.edu 37 18 13612849 13612849 + RNA SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 18 13612849 13612849 G C SNP LDLRAD4 ENST00000590308 human ensembl 70_37 +1 known rna NULL NULL 0.240 - - - no_errors LDLRAD4 HGNC LLGL1 3996 genome.wustl.edu 37 17 18141887 18141887 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 18141887 18141887 C T SNP LLGL1 ENST00000316843 human ensembl 70_37 +1 known missense c.2170 p.R724C 1.000 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL1 HGNC LOC440233 440233 genome.wustl.edu 37 15 23406517 23406517 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 15 23406517 23406517 C G SNP LOC440233 ENST00000558241 human ensembl 70_37 -1 novel missense c.2319 p.K773N 0.029 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors RP11-467N20.5 Clone_based_vega_gene LOC644669 644669 genome.wustl.edu 37 18 15325556 15325556 + RNA SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 18 15325556 15325556 C G SNP LOC644669 ENST00000455308 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AP005901.1 Clone_based_vega_gene LOC644669 644669 genome.wustl.edu 37 18 15325663 15325663 + RNA SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 18 15325663 15325663 C G SNP LOC644669 ENST00000455308 human ensembl 70_37 -1 known rna NULL NULL 0.914 - - - no_errors AP005901.1 Clone_based_vega_gene LRRC23 10233 genome.wustl.edu 37 12 7019143 7019143 + Silent SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 7019143 7019143 G C SNP LRRC23 ENST00000007969 human ensembl 70_37 +1 known silent c.711 p.L237 1.000 NULL pfam_Leu-rich_rpt - no_errors LRRC23 HGNC LRRCC1 85444 genome.wustl.edu 37 8 86049720 86049720 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 8 86049720 86049720 G A SNP LRRCC1 ENST00000360375 human ensembl 70_37 +1 known missense c.2351 p.R784H 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin - no_errors LRRCC1 HGNC LSM14B 149986 genome.wustl.edu 37 20 60697842 60697842 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 20 60697842 60697842 C T SNP LSM14B ENST00000253001 human ensembl 70_37 +1 known silent c.120 p.L40 0.998 superfamily_LSM_dom pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14B HGNC MADD 8567 genome.wustl.edu 37 11 47297739 47297739 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 47297739 47297739 C T SNP MADD ENST00000311027 human ensembl 70_37 +1 known silent c.949 p.L317 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom 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 MADD HGNC MAGEB1 4112 genome.wustl.edu 37 X 30269126 30269126 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc X 30269126 30269126 C T SNP MAGEB1 ENST00000378981 human ensembl 70_37 +1 known silent c.516 p.G172 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC MAP3K12 7786 genome.wustl.edu 37 12 53875770 53875770 + Frame_Shift_Del DEL T T - TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 53875770 53875770 T - DEL MAP3K12 ENST00000267079 human ensembl 70_37 -1 known frame_shift_del c.2436 p.E812fs 0.726 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K12 HGNC MAP3K12 7786 genome.wustl.edu 37 12 53875771 53875771 + Missense_Mutation SNP T T G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 53875771 53875771 T G SNP MAP3K12 ENST00000267079 human ensembl 70_37 -1 known missense c.2435 p.E812A 0.722 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K12 HGNC MAP3K9 4293 genome.wustl.edu 37 14 71215635 71215635 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 71215635 71215635 C G SNP MAP3K9 ENST00000555993 human ensembl 70_37 -1 known missense c.1237 p.E413Q 1.000 pirsf_MAPKKK9/10/11,superfamily_Kinase-like_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MAP3K9 HGNC MAPK1 5594 genome.wustl.edu 37 22 22127167 22127167 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 22 22127167 22127167 C T SNP MAPK1 ENST00000215832 human ensembl 70_37 -1 known missense c.961 p.D321N 1.000 superfamily_Kinase-like_dom,prints_MAPK_ERK1/2 pfam_Prot_kinase_cat_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_cat_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC MARK1 4139 genome.wustl.edu 37 1 220826469 220826469 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 220826469 220826469 C T SNP MARK1 ENST00000366917 human ensembl 70_37 +1 known missense c.1763 p.S588F 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK1 HGNC MAST1 22983 genome.wustl.edu 37 19 12958773 12958773 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 12958773 12958773 G C SNP MAST1 ENST00000251472 human ensembl 70_37 +1 known missense c.676 p.E226Q 1.000 pfam_MA_Ser/Thr_Kinase_dom,superfamily_MAST_pre-PK_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST1 HGNC MCHR2 84539 genome.wustl.edu 37 6 100403985 100403985 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 100403985 100403985 G A SNP MCHR2 ENST00000281806 human ensembl 70_37 -1 known silent c.39 p.A13 0.202 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 ME2 4200 genome.wustl.edu 37 18 48442582 48442582 + Missense_Mutation SNP T T C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 18 48442582 48442582 T C SNP ME2 ENST00000321341 human ensembl 70_37 +1 known missense c.437 p.I146T 1.000 pfam_Malic_N pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME2 HGNC MED16 10025 genome.wustl.edu 37 19 879963 879963 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 879963 879963 G A SNP MED16 ENST00000325464 human ensembl 70_37 -1 known silent c.1327 p.L443 1.000 pfam_Mediator_Med16,superfamily_WD40_repeat_dom pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC MEIS1 4211 genome.wustl.edu 37 2 66794708 66794708 + Silent SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 2 66794708 66794708 G T SNP MEIS1 ENST00000560281 human ensembl 70_37 +1 putative silent c.1089 p.P363 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS1 HGNC MIR4485 100616263 genome.wustl.edu 37 MT 1750 1750 + RNA SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc MT 1750 1750 G T SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC MIR4485 100616263 genome.wustl.edu 37 MT 2909 2909 + RNA SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc MT 2909 2909 G A SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC MMP24 10893 genome.wustl.edu 37 20 33862108 33862108 + Frame_Shift_Del DEL G G - TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 20 33862108 33862108 G - DEL MMP24 ENST00000246186 human ensembl 70_37 +1 known frame_shift_del c.1634 p.W545fs 1.000 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP24 HGNC MRGPRD 116512 genome.wustl.edu 37 11 68747955 68747955 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 68747955 68747955 G C SNP MRGPRD ENST00000309106 human ensembl 70_37 -1 known missense c.501 p.F167L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRD HGNC MRPL20 55052 genome.wustl.edu 37 1 1337574 1337574 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 1337574 1337574 G A SNP MRPL20 ENST00000344843 human ensembl 70_37 -1 known silent c.339 p.F113 1.000 pfam_Ribosomal_L20,tigrfam_Ribosomal_L20 pfam_Ribosomal_L20,prints_Ribosomal_L20,tigrfam_Ribosomal_L20 - no_errors MRPL20 HGNC MS4A14 84689 genome.wustl.edu 37 11 60183299 60183299 + Silent SNP T T A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 60183299 60183299 T A SNP MS4A14 ENST00000300187 human ensembl 70_37 +1 known silent c.858 p.P286 0.000 NULL pfam_CD20-like - no_errors MS4A14 HGNC MSH2 4436 genome.wustl.edu 37 2 47703697 47703697 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 2 47703697 47703697 G A SNP MSH2 ENST00000233146 human ensembl 70_37 +1 known missense c.2197 p.A733T 0.998 pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC MT-ATP6 4508 genome.wustl.edu 37 MT 9144 9144 + Silent SNP C C A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc MT 9144 9144 C A SNP MT-ATP6 ENST00000361899 human ensembl 70_37 +1 known silent c.618 p.V206 NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC MT-CO1 4512 genome.wustl.edu 37 MT 6474 6474 + Missense_Mutation SNP A A G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc MT 6474 6474 A G SNP MT-CO1 ENST00000361624 human ensembl 70_37 +1 known missense c.571 p.T191A NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC MT-CO1 4512 genome.wustl.edu 37 MT 7220 7220 + Silent SNP T T C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc MT 7220 7220 T C SNP MT-CO1 ENST00000361624 human ensembl 70_37 +1 known silent c.1317 p.R439 NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC MTOR 2475 genome.wustl.edu 37 1 11182063 11182063 + Silent SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 11182063 11182063 G C SNP MTOR ENST00000361445 human ensembl 70_37 -1 known silent c.6783 p.L2261 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_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 MYBBP1A 10514 genome.wustl.edu 37 17 4443660 4443660 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 4443660 4443660 C T SNP MYBBP1A ENST00000381556 human ensembl 70_37 -1 known missense c.3417 p.M1139I 1.000 NULL pfam_DNA_pol_V,superfamily_ARM-type_fold - no_errors MYBBP1A HGNC MYH10 4628 genome.wustl.edu 37 17 8408154 8408154 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 8408154 8408154 C T SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known missense c.3427 p.E1143K 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,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 NAB2 4665 genome.wustl.edu 37 12 57485779 57485779 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 57485779 57485779 G A SNP NAB2 ENST00000300131 human ensembl 70_37 +1 known missense c.955 p.E319K 1.000 pfam_NAB_co-repressor_dom pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC NCOA6 23054 genome.wustl.edu 37 20 33342596 33342596 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 20 33342596 33342596 G A SNP NCOA6 ENST00000359003 human ensembl 70_37 -1 known missense c.1604 p.S535L 0.998 NULL NULL - no_errors NCOA6 HGNC NFE2 4778 genome.wustl.edu 37 12 54686942 54686942 + Nonsense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 54686942 54686942 G C SNP NFE2 ENST00000312156 human ensembl 70_37 -1 known nonsense c.338 p.S113* 1.000 NULL pfam_bZIP,pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2 HGNC NFIB 4781 genome.wustl.edu 37 9 14116247 14116247 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 9 14116247 14116247 C T SNP NFIB ENST00000397581 human ensembl 70_37 -1 known silent c.1344 p.L448 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIB HGNC NOP9 161424 genome.wustl.edu 37 14 24769346 24769346 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 24769346 24769346 G A SNP NOP9 ENST00000267425 human ensembl 70_37 +1 known silent c.186 p.L62 0.942 NULL superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt - no_errors NOP9 HGNC NOS2 4843 genome.wustl.edu 37 17 26100236 26100236 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 26100236 26100236 C T SNP NOS2 ENST00000313735 human ensembl 70_37 -1 known missense c.1510 p.E504K 0.659 pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC NTM 50863 genome.wustl.edu 37 11 132081971 132081971 + Silent SNP T T C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 132081971 132081971 T C SNP NTM ENST00000539799 human ensembl 70_37 +1 known silent c.456 p.N152 0.963 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors NTM HGNC OR10G3 26533 genome.wustl.edu 37 14 22038145 22038145 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 22038145 22038145 G C SNP OR10G3 ENST00000303532 human ensembl 70_37 -1 known missense c.731 p.A244G 1.000 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR10G3 HGNC OR1J2 26740 genome.wustl.edu 37 9 125273828 125273828 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 9 125273828 125273828 C T SNP OR1J2 ENST00000335302 human ensembl 70_37 +1 known missense c.748 p.L250F 0.015 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1J2 HGNC OR2L3 391192 genome.wustl.edu 37 1 248224124 248224124 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 248224124 248224124 C T SNP OR2L3 ENST00000359959 human ensembl 70_37 +1 known silent c.141 p.L47 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L3 HGNC OR51J1 79470 genome.wustl.edu 37 11 5424118 5424118 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 5424118 5424118 G A SNP OR51J1 ENST00000332043 human ensembl 70_37 +1 known missense c.292 p.E98K 0.007 pfscan_GPCR_Rhodpsn_7TM pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OR51J1 HGNC OR52A1 23538 genome.wustl.edu 37 11 5173437 5173437 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 5173437 5173437 G A SNP OR52A1 ENST00000328942 human ensembl 70_37 -1 known missense c.163 p.R55C 0.000 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 OR52A1 HGNC OR52L1 338751 genome.wustl.edu 37 11 6007924 6007924 + Silent SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 6007924 6007924 G C SNP OR52L1 ENST00000332249 human ensembl 70_37 -1 known silent c.237 p.L79 0.551 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 OR52L1 HGNC OR6B1 135946 genome.wustl.edu 37 7 143701561 143701561 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 7 143701561 143701561 G A SNP OR6B1 ENST00000408922 human ensembl 70_37 +1 known missense c.472 p.A158T 0.583 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B1 HGNC OR7E24 26648 genome.wustl.edu 37 19 9362120 9362120 + Missense_Mutation SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 9362120 9362120 G T SNP OR7E24 ENST00000456448 human ensembl 70_37 +1 known missense c.401 p.S134I 0.042 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC OR7G1 125962 genome.wustl.edu 37 19 9226128 9226128 + Silent SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 9226128 9226128 G C SNP OR7G1 ENST00000293614 human ensembl 70_37 -1 known silent c.312 p.V104 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 OR7G1 HGNC OR8B12 219858 genome.wustl.edu 37 11 124413323 124413323 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 124413323 124413323 G C SNP OR8B12 ENST00000306842 human ensembl 70_37 -1 known missense c.228 p.I76M 0.005 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 OR8B12 HGNC OR8U1 219417 genome.wustl.edu 37 11 56143163 56143163 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 56143163 56143163 G C SNP OR8U1 ENST00000302270 human ensembl 70_37 +1 known missense c.64 p.E22Q 0.041 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8U1 HGNC OSBPL5 114879 genome.wustl.edu 37 11 3114255 3114255 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 3114255 3114255 G C SNP OSBPL5 ENST00000263650 human ensembl 70_37 -1 known missense c.1974 p.I658M 0.860 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC PASD1 139135 genome.wustl.edu 37 X 150793972 150793972 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc X 150793972 150793972 C T SNP PASD1 ENST00000370357 human ensembl 70_37 +1 known missense c.599 p.S200L 0.000 NULL smart_PAS,pfscan_PAS - no_errors PASD1 HGNC PCDHA7 56141 genome.wustl.edu 37 5 140215233 140215233 + Missense_Mutation SNP A A G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 5 140215233 140215233 A G SNP PCDHA7 ENST00000525929 human ensembl 70_37 +1 known missense c.1265 p.E422G 0.008 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 PCDHA7 HGNC PCDHA7 56141 genome.wustl.edu 37 5 140215534 140215534 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 5 140215534 140215534 G A SNP PCDHA7 ENST00000525929 human ensembl 70_37 +1 known silent c.1566 p.P522 0.132 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 PCDHA7 HGNC PCDHB11 56125 genome.wustl.edu 37 5 140579541 140579541 + Missense_Mutation SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 5 140579541 140579541 G T SNP PCDHB11 ENST00000354757 human ensembl 70_37 +1 known missense c.194 p.R65L 0.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB11 HGNC PCOLCE2 26577 genome.wustl.edu 37 3 142539879 142539879 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 3 142539879 142539879 C T SNP PCOLCE2 ENST00000295992 human ensembl 70_37 -1 known missense c.958 p.G320S 1.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain - no_errors PCOLCE2 HGNC PEAK1 79834 genome.wustl.edu 37 15 77426049 77426049 + Missense_Mutation SNP C C A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 15 77426049 77426049 C A SNP PEAK1 ENST00000312493 human ensembl 70_37 -1 known missense c.3375 p.Q1125H 0.998 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors PEAK1 Uniprot_genename PEG3 5178 genome.wustl.edu 37 19 57326753 57326753 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 57326753 57326753 G A SNP PEG3 ENST00000326441 human ensembl 70_37 -1 known silent c.3057 p.Y1019 0.005 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC PHLPP1 23239 genome.wustl.edu 37 18 60587256 60587256 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 18 60587256 60587256 G C SNP PHLPP1 ENST00000262719 human ensembl 70_37 +1 known missense c.2869 p.E957Q 0.995 smart_Leu-rich_rpt_typical-subtyp pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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_Ca/lipid-bd_dom_CaLB,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 PIM3 415116 genome.wustl.edu 37 22 50355296 50355296 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 22 50355296 50355296 C T SNP PIM3 ENST00000360612 human ensembl 70_37 +1 known silent c.453 p.F151 0.971 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PIM3 HGNC PKHD1 5314 genome.wustl.edu 37 6 51613210 51613210 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 51613210 51613210 C G SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known missense c.9204 p.M3068I 0.158 superfamily_Pectin_lyase_fold/virulence pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC PLEKHA5 54477 genome.wustl.edu 37 12 19459387 19459387 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 19459387 19459387 G A SNP PLEKHA5 ENST00000309364 human ensembl 70_37 +1 known missense c.1900 p.D634N 0.051 NULL pfam_Pleckstrin_homology,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP - no_errors PLEKHA5 HGNC PMFBP1 83449 genome.wustl.edu 37 16 72162565 72162565 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 72162565 72162565 C G SNP PMFBP1 ENST00000537465 human ensembl 70_37 -1 known missense c.2094 p.L698F 0.010 NULL NULL - no_errors PMFBP1 HGNC PMS2CL 441194 genome.wustl.edu 37 7 6777427 6777427 + RNA SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 7 6777427 6777427 G A SNP PMS2CL ENST00000431453 human ensembl 70_37 +1 known rna NULL NULL 0.928 - - - no_errors PMS2CL HGNC PODXL2 50512 genome.wustl.edu 37 3 127379482 127379482 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 3 127379482 127379482 G A SNP PODXL2 ENST00000342480 human ensembl 70_37 +1 known missense c.611 p.R204H 0.001 NULL pfam_CD34/Podocalyxin - no_errors PODXL2 HGNC POM121 9883 genome.wustl.edu 37 7 72416748 72416748 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 7 72416748 72416748 G A SNP POM121 ENST00000434423 human ensembl 70_37 +1 known missense c.3725 p.R1242Q 1.000 NULL NULL - no_errors POM121 HGNC POTEM 641455 genome.wustl.edu 37 14 20020102 20020102 + Missense_Mutation SNP T T C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 20020102 20020102 T C SNP POTEM ENST00000547848 human ensembl 70_37 -1 known missense c.119 p.K40R 0.137 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEM HGNC PRRC2A 7916 genome.wustl.edu 37 6 31599370 31599370 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 31599370 31599370 G A SNP PRRC2A ENST00000376007 human ensembl 70_37 +1 known missense c.2920 p.E974K 0.998 NULL pfam_BAT2_N - no_errors PRRC2A HGNC PSG2 5670 genome.wustl.edu 37 19 43579627 43579627 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 43579627 43579627 G A SNP PSG2 ENST00000406487 human ensembl 70_37 -1 known silent c.588 p.S196 0.009 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG2 HGNC RALGAPA1 253959 genome.wustl.edu 37 14 36121025 36121025 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 36121025 36121025 C T SNP RALGAPA1 ENST00000258840 human ensembl 70_37 -1 known missense c.4285 p.E1429K 1.000 superfamily_ARM-type_fold pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA1 HGNC RASGRF1 5923 genome.wustl.edu 37 15 79294079 79294079 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 15 79294079 79294079 C T SNP RASGRF1 ENST00000419573 human ensembl 70_37 -1 known missense c.2548 p.D850N 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC RELL2 285613 genome.wustl.edu 37 5 141017496 141017496 + RNA SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 5 141017496 141017496 G C SNP RELL2 ENST00000518025 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RELL2 HGNC RNH1 6050 genome.wustl.edu 37 11 494945 494945 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 11 494945 494945 G A SNP RNH1 ENST00000354420 human ensembl 70_37 -1 known silent c.1236 p.D412 0.003 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors RNH1 HGNC RNPC3 55599 genome.wustl.edu 37 1 104076466 104076467 + Frame_Shift_Ins INS - - A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 104076466 104076467 - A INS RNPC3 ENST00000423855 human ensembl 70_37 +1 known frame_shift_ins c.346_347 p.K120fs 0.748:0.784 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPC3 HGNC RXFP2 122042 genome.wustl.edu 37 13 32367085 32367085 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 13 32367085 32367085 G A SNP RXFP2 ENST00000298386 human ensembl 70_37 +1 known missense c.1646 p.G549E 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt - no_errors RXFP2 HGNC SACS 26278 genome.wustl.edu 37 13 23908103 23908103 + Silent SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 13 23908103 23908103 G C SNP SACS ENST00000382292 human ensembl 70_37 -1 known silent c.9912 p.L3304 0.146 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC SEMA4F 10505 genome.wustl.edu 37 2 74902683 74902683 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 2 74902683 74902683 C T SNP SEMA4F ENST00000357877 human ensembl 70_37 +1 known silent c.1404 p.I468 0.011 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4F HGNC SERPINB1 1992 genome.wustl.edu 37 6 2836096 2836096 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 2836096 2836096 C T SNP SERPINB1 ENST00000380739 human ensembl 70_37 -1 known silent c.729 p.L243 0.368 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB1 HGNC SETMAR 6419 genome.wustl.edu 37 3 4358681 4358681 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 3 4358681 4358681 G C SNP SETMAR ENST00000358065 human ensembl 70_37 +1 known missense c.1806 p.L602F 0.954 NULL pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETMAR HGNC SGK3 23678 genome.wustl.edu 37 8 67753177 67753177 + RNA DEL A A - TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 8 67753177 67753177 A - DEL SGK3 ENST00000523260 human ensembl 70_37 +1 putative rna NULL NULL 0.034 - - - no_errors SGK3 HGNC SH3PXD2B 285590 genome.wustl.edu 37 5 171777403 171777403 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 5 171777403 171777403 C G SNP SH3PXD2B ENST00000311601 human ensembl 70_37 -1 known missense c.976 p.E326Q 0.729 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC SHOC2 8036 genome.wustl.edu 37 10 112771399 112771399 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 10 112771399 112771399 G A SNP SHOC2 ENST00000369452 human ensembl 70_37 +1 known silent c.1572 p.L524 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors SHOC2 HGNC SHROOM1 134549 genome.wustl.edu 37 5 132159867 132159867 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 5 132159867 132159867 C T SNP SHROOM1 ENST00000378679 human ensembl 70_37 -1 known missense c.1486 p.E496K 0.141 NULL pfam_ASD2,pfam_ASD1 - no_errors SHROOM1 HGNC SLC14A2 8170 genome.wustl.edu 37 18 43224034 43224034 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 18 43224034 43224034 C T SNP SLC14A2 ENST00000255226 human ensembl 70_37 +1 known silent c.1260 p.F420 1.000 pfam_Urea_transporter pfam_Urea_transporter - no_errors SLC14A2 HGNC SLC15A1 6564 genome.wustl.edu 37 13 99338473 99338473 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 13 99338473 99338473 C T SNP SLC15A1 ENST00000376503 human ensembl 70_37 -1 known missense c.1906 p.V636M 0.993 superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A1 HGNC SLC2A9 56606 genome.wustl.edu 37 4 9836556 9836556 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 4 9836556 9836556 G A SNP SLC2A9 ENST00000264784 human ensembl 70_37 -1 known silent c.1368 p.T456 0.553 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A9 HGNC SLC38A10 124565 genome.wustl.edu 37 17 79226316 79226316 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 79226316 79226316 G A SNP SLC38A10 ENST00000374759 human ensembl 70_37 -1 known silent c.1624 p.L542 0.013 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC SLC47A2 146802 genome.wustl.edu 37 17 19584766 19584767 + Frame_Shift_Ins INS - - C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 19584766 19584767 - C INS SLC47A2 ENST00000325411 human ensembl 70_37 -1 known frame_shift_ins c.1414_1413 p.L471fs 0.997:1.000 tigrfam_MATE pfam_MATE,tigrfam_MATE - no_errors SLC47A2 HGNC SLC6A14 11254 genome.wustl.edu 37 X 115574018 115574018 + Splice_Site SNP T T A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc X 115574018 115574018 T A SNP SLC6A14 ENST00000371900 human ensembl 70_37 +1 known splice_site c.508+2 e4+2 1.000 - - - no_errors SLC6A14 HGNC SLMAP 7871 genome.wustl.edu 37 3 57898234 57898234 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 3 57898234 57898234 C G SNP SLMAP ENST00000428312 human ensembl 70_37 +1 known missense c.1775 p.A592G 1.000 pfam_PFD_beta-like,superfamily_Prefoldin pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom - no_errors SLMAP HGNC SMARCB1 6598 genome.wustl.edu 37 22 24143248 24143248 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 22 24143248 24143248 G A SNP SMARCB1 ENST00000263121 human ensembl 70_37 +1 known silent c.480 p.K160 1.000 pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC SNORD4A 26773 genome.wustl.edu 37 17 27049642 27049642 + RNA SNP A A T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 27049642 27049642 A T SNP SNORD4A ENST00000459174 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors SNORD4A HGNC SPECC1 92521 genome.wustl.edu 37 17 20156869 20156869 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 17 20156869 20156869 C T SNP SPECC1 ENST00000261503 human ensembl 70_37 +1 known missense c.2650 p.R884C 0.001 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC SPEN 23013 genome.wustl.edu 37 1 16258354 16258354 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 16258354 16258354 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known silent c.5619 p.E1873 0.984 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPEN 23013 genome.wustl.edu 37 1 16258747 16258747 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 1 16258747 16258747 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known silent c.6012 p.P2004 0.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPTB 6710 genome.wustl.edu 37 14 65240132 65240132 + Missense_Mutation SNP T T C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 14 65240132 65240132 T C SNP SPTB ENST00000389722 human ensembl 70_37 -1 known missense c.4984 p.I1662V 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC SRRM2-AS1 100128788 genome.wustl.edu 37 16 2789023 2789023 + RNA SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 2789023 2789023 C T SNP SRRM2-AS1 ENST00000382313 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SRRM2-AS1 HGNC SRRM2-AS1 100128788 genome.wustl.edu 37 16 2794531 2794531 + RNA SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 2794531 2794531 C T SNP SRRM2-AS1 ENST00000571305 human ensembl 70_37 -1 known rna NULL NULL 0.062 - - - no_errors SRRM2-AS1 HGNC SSC5D 284297 genome.wustl.edu 37 19 56029800 56029800 + Missense_Mutation SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 56029800 56029800 C T SNP SSC5D ENST00000389623 human ensembl 70_37 +1 known missense c.4157 p.S1386F 0.000 NULL pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors SSC5D HGNC SURF6 6838 genome.wustl.edu 37 9 136201270 136201270 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 9 136201270 136201270 C G SNP SURF6 ENST00000372022 human ensembl 70_37 -1 known missense c.262 p.E88Q 0.001 NULL pfam_Surf6 - no_errors SURF6 HGNC SYNE1 23345 genome.wustl.edu 37 6 152720920 152720920 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 152720920 152720920 G C SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.7068 p.I2356M 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC TAOK2 9344 genome.wustl.edu 37 16 30000973 30000973 + Missense_Mutation SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 30000973 30000973 G T SNP TAOK2 ENST00000279394 human ensembl 70_37 +1 known missense c.2292 p.Q764H 1.000 superfamily_Homeodomain-like pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK2 HGNC TGM3 7053 genome.wustl.edu 37 20 2293594 2293594 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 20 2293594 2293594 G A SNP TGM3 ENST00000381458 human ensembl 70_37 +1 known silent c.591 p.L197 0.999 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC TLR3 7098 genome.wustl.edu 37 4 187003882 187003882 + Missense_Mutation SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 4 187003882 187003882 G T SNP TLR3 ENST00000296795 human ensembl 70_37 +1 known missense c.1042 p.D348Y 0.995 NULL pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC TMEM184C 55751 genome.wustl.edu 37 4 148554078 148554078 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 4 148554078 148554078 G A SNP TMEM184C ENST00000296582 human ensembl 70_37 +1 known silent c.804 p.L268 1.000 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184C HGNC TMPRSS9 360200 genome.wustl.edu 37 19 2421914 2421914 + Silent SNP C C A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 2421914 2421914 C A SNP TMPRSS9 ENST00000332578 human ensembl 70_37 +1 known silent c.2115 p.I705 0.721 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6 - no_errors TMPRSS9 HGNC TMTC1 83857 genome.wustl.edu 37 12 29908757 29908757 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 29908757 29908757 G A SNP TMTC1 ENST00000256062 human ensembl 70_37 -1 known silent c.292 p.L98 1.000 NULL pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC TPCN1 53373 genome.wustl.edu 37 12 113730871 113730871 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 12 113730871 113730871 G C SNP TPCN1 ENST00000541517 human ensembl 70_37 +1 known missense c.2462 p.R821T 0.002 NULL pfam_Ion_trans_dom - no_errors TPCN1 HGNC TRIM2 23321 genome.wustl.edu 37 4 154216602 154216602 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 4 154216602 154216602 G A SNP TRIM2 ENST00000338700 human ensembl 70_37 +1 known silent c.924 p.L308 0.998 smart_Bbox_C pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM2 HGNC TTPA 7274 genome.wustl.edu 37 8 63973937 63973937 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 8 63973937 63973937 G A SNP TTPA ENST00000260116 human ensembl 70_37 -1 known silent c.711 p.F237 0.990 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPA HGNC UBFD1 56061 genome.wustl.edu 37 16 23568536 23568536 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 23568536 23568536 G A SNP UBFD1 ENST00000219638 human ensembl 70_37 +1 known missense c.145 p.G49R 0.951 NULL pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBFD1 HGNC UMOD 7369 genome.wustl.edu 37 16 20355366 20355366 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 16 20355366 20355366 G A SNP UMOD ENST00000424589 human ensembl 70_37 -1 known silent c.1410 p.T470 0.806 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors UMOD HGNC USP19 10869 genome.wustl.edu 37 3 49154041 49154041 + Splice_Site SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 3 49154041 49154041 C G SNP USP19 ENST00000398888 human ensembl 70_37 -1 known splice_site c.824-1 e6-1 1.000 - - - no_errors USP19 HGNC USP49 25862 genome.wustl.edu 37 6 41773771 41773771 + Missense_Mutation SNP C C G TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 6 41773771 41773771 C G SNP USP49 ENST00000373009 human ensembl 70_37 -1 known missense c.951 p.L317F 0.002 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP49 HGNC VPS13A 23230 genome.wustl.edu 37 9 79972637 79972637 + Missense_Mutation SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 9 79972637 79972637 G T SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known missense c.7836 p.M2612I 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC YIPF2 78992 genome.wustl.edu 37 19 11038362 11038364 + In_Frame_Del DEL GCT GCT - TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 11038362 11038364 GCT - DEL YIPF2 ENST00000253031 human ensembl 70_37 -1 known in_frame_del c.223_221 p.Q74in_frame_del 0.404:0.366:0.337 NULL pfam_Yip1 - no_errors YIPF2 HGNC ZNF366 167465 genome.wustl.edu 37 5 71756370 71756370 + Silent SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 5 71756370 71756370 G A SNP ZNF366 ENST00000318442 human ensembl 70_37 -1 known silent c.954 p.F318 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ZNF407 55628 genome.wustl.edu 37 18 72345774 72345774 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 18 72345774 72345774 G C SNP ZNF407 ENST00000299687 human ensembl 70_37 +1 known missense c.2799 p.K933N 0.718 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ZNF479 90827 genome.wustl.edu 37 7 57188193 57188193 + Nonsense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 7 57188193 57188193 G C SNP ZNF479 ENST00000331162 human ensembl 70_37 -1 known nonsense c.929 p.S310* 0.005 pfam_Znf_C2H2,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 ZNF479 HGNC ZNF521 25925 genome.wustl.edu 37 18 22804821 22804821 + Missense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 18 22804821 22804821 G C SNP ZNF521 ENST00000361524 human ensembl 70_37 -1 known missense c.3061 p.R1021G 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ZNF527 84503 genome.wustl.edu 37 19 37879599 37879599 + Missense_Mutation SNP G G T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 37879599 37879599 G T SNP ZNF527 ENST00000436120 human ensembl 70_37 +1 known missense c.648 p.K216N 1.000 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 ZNF527 HGNC ZNF556 80032 genome.wustl.edu 37 19 2877793 2877793 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 2877793 2877793 C T SNP ZNF556 ENST00000307635 human ensembl 70_37 +1 known silent c.837 p.I279 0.217 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 ZNF556 HGNC ZNF66 7617 genome.wustl.edu 37 19 20989079 20989079 + Missense_Mutation SNP G G A TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 20989079 20989079 G A SNP ZNF66P ENST00000425625 human ensembl 70_37 +1 known missense c.811 p.G271R 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 ZNF66P HGNC ZNF77 58492 genome.wustl.edu 37 19 2934414 2934414 + Silent SNP C C T TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 2934414 2934414 C T SNP ZNF77 ENST00000314531 human ensembl 70_37 -1 known silent c.711 p.Q237 0.995 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 ZNF77 HGNC ZNF799 90576 genome.wustl.edu 37 19 12502748 12502748 + Nonsense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4f854a5-4255-4c57-b449-df4a3278418d 8b2fc007-7f8e-4f12-b68b-3c19c9911fcc 19 12502748 12502748 G C SNP ZNF799 ENST00000430385 human ensembl 70_37 -1 known nonsense c.464 p.S155* 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 ZNF799 HGNC