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 A2M 2 genome.wustl.edu 37 12 9262517 9262517 + Missense_Mutation SNP C C G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 12 9262517 9262517 C G SNP A2M ENST00000318602 human ensembl 70_37 -1 known missense c.619 p.V207L 1.000 pfam_A2M_N pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC A4GNT 51146 genome.wustl.edu 37 3 137843671 137843671 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 3 137843671 137843671 G A SNP A4GNT ENST00000236709 human ensembl 70_37 -1 known missense c.458 p.S153F 0.066 pfam_GlycoTrfase_DXD_sugar-bd_CS pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS - no_errors A4GNT HGNC ACTA1 58 genome.wustl.edu 37 1 229568794 229568794 + Silent SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 1 229568794 229568794 G A SNP ACTA1 ENST00000366684 human ensembl 70_37 -1 known silent c.69 p.F23 0.952 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTA1 HGNC ALKBH5 54890 genome.wustl.edu 37 17 18110256 18110256 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 17 18110256 18110256 C T SNP ALKBH5 ENST00000399138 human ensembl 70_37 +1 known missense c.979 p.R327C 1.000 NULL NULL - no_errors ALKBH5 HGNC ANKRD34A 284615 genome.wustl.edu 37 1 145474435 145474435 + Silent SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 1 145474435 145474435 G A SNP ANKRD34A ENST00000323397 human ensembl 70_37 +1 known silent c.1107 p.L369 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34A HGNC ANKRD36 375248 genome.wustl.edu 37 2 97860487 97860487 + Missense_Mutation SNP T T C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 2 97860487 97860487 T C SNP ANKRD36 ENST00000420699 human ensembl 70_37 +1 known missense c.2474 p.L825S 0.064 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC APOB 338 genome.wustl.edu 37 2 21231002 21231002 + Missense_Mutation SNP A A C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 2 21231002 21231002 A C SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.8738 p.L2913R 0.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ASPM 259266 genome.wustl.edu 37 1 197069809 197069809 + Nonsense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 1 197069809 197069809 G A SNP ASPM ENST00000367409 human ensembl 70_37 -1 known nonsense c.8572 p.Q2858* 0.000 superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC BAHCC1 57597 genome.wustl.edu 37 17 79409609 79409609 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 17 79409609 79409609 G A SNP BAHCC1 ENST00000307745 human ensembl 70_37 +1 known missense c.1234 p.E412K 0.962 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHCC1 HGNC BNIP3P1 319138 genome.wustl.edu 37 14 28733828 28733828 + RNA SNP T T C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 14 28733828 28733828 T C SNP BNIP3P1 ENST00000550043 human ensembl 70_37 +1 known rna NULL NULL 0.147 - - - no_errors BNIP3P1 HGNC BRD1 23774 genome.wustl.edu 37 22 50217002 50217002 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 22 50217002 50217002 G A SNP BRD1 ENST00000216267 human ensembl 70_37 -1 known missense c.964 p.R322W 1.000 superfamily_Znf_FYVE_PHD pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD1 HGNC C11orf65 160140 genome.wustl.edu 37 11 108277614 108277614 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 11 108277614 108277614 C T SNP C11orf65 ENST00000393084 human ensembl 70_37 -1 known missense c.305 p.R102K 1.000 NULL NULL - no_errors C11orf65 HGNC C1S 716 genome.wustl.edu 37 12 7170342 7170342 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 12 7170342 7170342 C T SNP C1S ENST00000328916 human ensembl 70_37 +1 known missense c.362 p.T121M 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors C1S HGNC CACNG7 59284 genome.wustl.edu 37 19 54418743 54418743 + Missense_Mutation SNP C C G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 19 54418743 54418743 C G SNP CACNG7 ENST00000222212 human ensembl 70_37 +1 known missense c.408 p.I136M 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu - no_errors CACNG7 HGNC CCDC60 160777 genome.wustl.edu 37 12 119954432 119954432 + Silent SNP G G T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 12 119954432 119954432 G T SNP CCDC60 ENST00000327554 human ensembl 70_37 +1 known silent c.888 p.L296 1.000 NULL NULL - no_errors CCDC60 HGNC CDK13 8621 genome.wustl.edu 37 7 40132633 40132633 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 7 40132633 40132633 C T SNP CDK13 ENST00000181839 human ensembl 70_37 +1 known missense c.3485 p.S1162F 0.955 NULL 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 - no_errors CDK13 HGNC CENPB 1059 genome.wustl.edu 37 20 3766324 3766324 + Silent SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 20 3766324 3766324 G A SNP CENPB ENST00000379751 human ensembl 70_37 -1 known silent c.807 p.V269 1.000 pfam_DDE_SF_endonuclease_CENPB-like pfam_Centromere_CenpB_dimerisation,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors CENPB HGNC CES5A 221223 genome.wustl.edu 37 16 55883536 55883536 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 16 55883536 55883536 C T SNP CES5A ENST00000521992 human ensembl 70_37 -1 known missense c.1510 p.E504K 0.998 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC CIC 23152 genome.wustl.edu 37 19 42793213 42793213 + Missense_Mutation SNP G G C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 19 42793213 42793213 G C SNP CIC ENST00000160740 human ensembl 70_37 +1 known missense c.1105 p.D369H 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC CLIC3 9022 genome.wustl.edu 37 9 139890114 139890114 + Silent SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 9 139890114 139890114 C T SNP CLIC3 ENST00000494426 human ensembl 70_37 -1 known silent c.129 p.T43 0.018 superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel - no_errors CLIC3 HGNC CP 1356 genome.wustl.edu 37 3 148928011 148928011 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 3 148928011 148928011 C T SNP CP ENST00000264613 human ensembl 70_37 -1 known missense c.550 p.D184N 0.998 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC CX3CL1 6376 genome.wustl.edu 37 16 57416399 57416399 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 16 57416399 57416399 G A SNP CX3CL1 ENST00000006053 human ensembl 70_37 +1 known missense c.649 p.E217K 0.000 prints_Chemokine_fractalkine_CX3CL1 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_fractalkine_CX3CL1 - no_errors CX3CL1 HGNC DOCK1 1793 genome.wustl.edu 37 10 128795093 128795093 + Silent SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 10 128795093 128795093 C T SNP DOCK1 ENST00000280333 human ensembl 70_37 +1 known silent c.555 p.F185 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC DSE 29940 genome.wustl.edu 37 6 116757460 116757460 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 6 116757460 116757460 G A SNP DSE ENST00000537543 human ensembl 70_37 +1 known missense c.1886 p.R629K 0.747 NULL superfamily_Chondroitin_lyas - no_errors DSE HGNC DSG4 147409 genome.wustl.edu 37 18 28991196 28991196 + Missense_Mutation SNP A A T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 18 28991196 28991196 A T SNP DSG4 ENST00000359747 human ensembl 70_37 +1 known missense c.2197 p.I733F 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG4 HGNC DYM 54808 genome.wustl.edu 37 18 46570541 46570541 + Missense_Mutation SNP C C G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 18 46570541 46570541 C G SNP DYM ENST00000269445 human ensembl 70_37 -1 known missense c.1894 p.E632Q 1.000 pfam_Dymeclin pfam_Dymeclin,superfamily_ARM-type_fold - no_errors DYM HGNC E2F3 1871 genome.wustl.edu 37 6 20402643 20402643 + Missense_Mutation SNP C C G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 6 20402643 20402643 C G SNP E2F3 ENST00000346618 human ensembl 70_37 +1 known missense c.180 p.I60M 1.000 NULL pfam_E2F_TDP - no_errors E2F3 HGNC E2F8 79733 genome.wustl.edu 37 11 19255959 19255959 + Missense_Mutation SNP C C G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 11 19255959 19255959 C G SNP E2F8 ENST00000250024 human ensembl 70_37 -1 known missense c.876 p.K292N 1.000 pfam_E2F_TDP pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000225792 0 genome.wustl.edu 37 7 26412102 26412102 + RNA SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 7 26412102 26412102 C T SNP ENSG00000225792 ENST00000451264 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC004540.4 Clone_based_vega_gene ENSG00000259352 0 genome.wustl.edu 37 15 45365748 45365748 + RNA SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 15 45365748 45365748 C T SNP ENSG00000259352 ENST00000560967 human ensembl 70_37 -1 known rna NULL NULL 0.413 - - - no_errors RP11-109D20.2 Clone_based_vega_gene ERBB2 2064 genome.wustl.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 17 37868208 37868208 C T SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known missense c.929 p.S310F 1.000 pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC ERBB3 2065 genome.wustl.edu 37 12 56488256 56488256 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 12 56488256 56488256 G A SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.1775 p.G592E 1.000 superfamily_Growth_fac_rcpt,smart_Furin_repeat,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB3 HGNC FERD3L 222894 genome.wustl.edu 37 7 19184649 19184649 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 7 19184649 19184649 G A SNP FERD3L ENST00000275461 human ensembl 70_37 -1 known missense c.337 p.R113W 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors FERD3L HGNC GABRG1 2565 genome.wustl.edu 37 4 46060338 46060338 + Missense_Mutation SNP C C A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 4 46060338 46060338 C A SNP GABRG1 ENST00000295452 human ensembl 70_37 -1 known missense c.812 p.G271V 1.000 superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC GABRG1 2565 genome.wustl.edu 37 4 46060339 46060339 + Missense_Mutation SNP C C G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 4 46060339 46060339 C G SNP GABRG1 ENST00000295452 human ensembl 70_37 -1 known missense c.811 p.G271R 1.000 superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC GALNT5 11227 genome.wustl.edu 37 2 158167845 158167845 + Silent SNP A A G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 2 158167845 158167845 A G SNP GALNT5 ENST00000259056 human ensembl 70_37 +1 known silent c.2808 p.K936 0.440 superfamily_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC GPR148 344561 genome.wustl.edu 37 2 131487317 131487317 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 2 131487317 131487317 G A SNP GPR148 ENST00000309926 human ensembl 70_37 +1 known missense c.593 p.G198E 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR148 HGNC HERC2 8924 genome.wustl.edu 37 15 28525273 28525273 + Silent SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 15 28525273 28525273 C T SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known silent c.483 p.E161 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC KCNS3 3790 genome.wustl.edu 37 2 18113430 18113430 + Silent SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 2 18113430 18113430 C T SNP KCNS3 ENST00000304101 human ensembl 70_37 +1 known silent c.1155 p.L385 0.166 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC KCTD2 23510 genome.wustl.edu 37 17 73043594 73043594 + Missense_Mutation SNP C C G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 17 73043594 73043594 C G SNP KCTD2 ENST00000322444 human ensembl 70_37 +1 known missense c.249 p.F83L 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD2 HGNC KDM4D 55693 genome.wustl.edu 37 11 94731208 94731208 + Silent SNP A A G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 11 94731208 94731208 A G SNP KDM4D ENST00000335080 human ensembl 70_37 +1 known silent c.672 p.E224 0.338 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4D HGNC KIAA1524 57650 genome.wustl.edu 37 3 108276131 108276131 + Missense_Mutation SNP C C A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 3 108276131 108276131 C A SNP KIAA1524 ENST00000295746 human ensembl 70_37 -1 known missense c.2144 p.R715M 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1524 HGNC KIF5B 3799 genome.wustl.edu 37 10 32307041 32307041 + Frame_Shift_Del DEL T T - TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 10 32307041 32307041 T - DEL KIF5B ENST00000302418 human ensembl 70_37 -1 known frame_shift_del c.2483 p.Q828fs 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC KLHDC3 116138 genome.wustl.edu 37 6 42985400 42985400 + Missense_Mutation SNP G G C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 6 42985400 42985400 G C SNP KLHDC3 ENST00000326974 human ensembl 70_37 +1 known missense c.298 p.G100R 1.000 NULL pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC3 HGNC KNDC1 85442 genome.wustl.edu 37 10 134980891 134980891 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 10 134980891 134980891 G A SNP KNDC1 ENST00000368572 human ensembl 70_37 +1 known missense c.109 p.V37M 1.000 smart_KIND pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC KNTC1 9735 genome.wustl.edu 37 12 123057788 123057788 + Missense_Mutation SNP G G C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 12 123057788 123057788 G C SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known missense c.2239 p.E747Q 0.960 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC KTN1 3895 genome.wustl.edu 37 14 56139951 56139951 + Missense_Mutation SNP G G C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 14 56139951 56139951 G C SNP KTN1 ENST00000395309 human ensembl 70_37 +1 known missense c.3749 p.R1250T 1.000 NULL NULL - no_errors KTN1 HGNC LAMB1 3912 genome.wustl.edu 37 7 107577713 107577713 + Silent SNP A A G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 7 107577713 107577713 A G SNP LAMB1 ENST00000222399 human ensembl 70_37 -1 known silent c.3771 p.I1257 1.000 superfamily_t-SNARE pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC LOC100507250 100507250 genome.wustl.edu 37 12 69080906 69080906 + RNA SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 12 69080906 69080906 G A SNP LOC100507250 ENST00000502102 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-637A17.2 Clone_based_vega_gene LOC728558 728558 genome.wustl.edu 37 10 97515949 97515949 + RNA DEL G G - TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 10 97515949 97515949 G - DEL LOC728558 ENST00000416301 human ensembl 70_37 -1 known rna NULL NULL 0.906 - - - no_errors RP11-429G19.2 Clone_based_vega_gene LOC96610 96610 genome.wustl.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 22 22664606 22664606 A G SNP LOC96610 ENST00000426066 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors LL22NC03-80A10.6 Clone_based_vega_gene LPIN2 9663 genome.wustl.edu 37 18 2937748 2937748 + Silent SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 18 2937748 2937748 C T SNP LPIN2 ENST00000261596 human ensembl 70_37 -1 known silent c.1110 p.A370 0.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC MAGEB10 139422 genome.wustl.edu 37 X 27840298 27840298 + Missense_Mutation SNP T T G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d X 27840298 27840298 T G SNP MAGEB10 ENST00000356790 human ensembl 70_37 +1 known missense c.875 p.L292W 0.000 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB10 HGNC MAST4 375449 genome.wustl.edu 37 5 66398418 66398418 + Silent SNP C C G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 5 66398418 66398418 C G SNP MAST4 ENST00000404260 human ensembl 70_37 +1 known silent c.1134 p.V378 1.000 pfam_MA_Ser/Thr_Kinase_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 MAST4 HGNC MCAM 4162 genome.wustl.edu 37 11 119185550 119185550 + Silent SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 11 119185550 119185550 G A SNP MCAM ENST00000264036 human ensembl 70_37 -1 known silent c.393 p.R131 0.005 smart_Ig_sub pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MCAM HGNC MDK 4192 genome.wustl.edu 37 11 46403873 46403873 + Missense_Mutation SNP G G C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 11 46403873 46403873 G C SNP MDK ENST00000489525 human ensembl 70_37 +1 known missense c.106 p.E36Q 0.705 pfam_Midkine_heparin-bd_GF_N,superfamily_Midkine_heparin-bd_GF_diS,prints_Midkine_heparin-bd_GF pfam_Midkine_heparin-bd_GF_N,pfam_Midkine_heparin-bd_GF_C,superfamily_Midkine_heparin-bd_GF_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF - no_errors MDK HGNC MIR1205 100302161 genome.wustl.edu 37 8 128972893 128972893 + RNA SNP G G C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 8 128972893 128972893 G C SNP MIR1205 ENST00000408844 human ensembl 70_37 +1 known rna NULL NULL 0.016 - - - no_errors MIR1205 HGNC MIR663B 100313824 genome.wustl.edu 37 2 133014619 133014619 + RNA SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 2 133014619 133014619 C T SNP MIR663B ENST00000408361 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors MIR663B HGNC MOV10L1 54456 genome.wustl.edu 37 22 50599416 50599416 + Silent SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 22 50599416 50599416 G A SNP MOV10L1 ENST00000262794 human ensembl 70_37 +1 known silent c.3486 p.L1162 1.000 NULL superfamily_NA-bd_OB-fold-like - no_errors MOV10L1 HGNC MRPL21 219927 genome.wustl.edu 37 11 68663993 68663993 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 11 68663993 68663993 C T SNP MRPL21 ENST00000362034 human ensembl 70_37 -1 known missense c.386 p.R129Q 0.991 pfam_Ribosomal_L21,tigrfam_Ribosomal_L21 pfam_Ribosomal_L21,tigrfam_Ribosomal_L21 - no_errors MRPL21 HGNC MUC20 200958 genome.wustl.edu 37 3 195453204 195453204 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 3 195453204 195453204 C T SNP MUC20 ENST00000447234 human ensembl 70_37 +1 known missense c.1730 p.S577L 0.000 NULL NULL - no_errors MUC20 HGNC MYH9 4627 genome.wustl.edu 37 22 36682865 36682865 + Missense_Mutation SNP G G T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 22 36682865 36682865 G T SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known missense c.4960 p.L1654M 1.000 pfam_Myosin_tail,superfamily_tRNA-bd_arm pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC NCAN 1463 genome.wustl.edu 37 19 19360596 19360596 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 19 19360596 19360596 G A SNP NCAN ENST00000252575 human ensembl 70_37 +1 known missense c.3842 p.R1281Q 0.356 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC NTNG2 84628 genome.wustl.edu 37 9 135073615 135073615 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 9 135073615 135073615 G A SNP NTNG2 ENST00000360670 human ensembl 70_37 +1 known missense c.476 p.R159H 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC OR10T2 128360 genome.wustl.edu 37 1 158368642 158368642 + Silent SNP G G T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 1 158368642 158368642 G T SNP OR10T2 ENST00000334438 human ensembl 70_37 -1 known silent c.615 p.I205 0.632 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 OR10T2 HGNC OR1M1 125963 genome.wustl.edu 37 19 9204406 9204406 + Silent SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 19 9204406 9204406 G A SNP OR1M1 ENST00000429566 human ensembl 70_37 +1 known silent c.486 p.L162 0.001 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 OR1M1 HGNC OTOR 56914 genome.wustl.edu 37 20 16729605 16729605 + Nonsense_Mutation SNP C C G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 20 16729605 16729605 C G SNP OTOR ENST00000246081 human ensembl 70_37 +1 known nonsense c.209 p.S70* 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors OTOR HGNC PBX2P1 5088 genome.wustl.edu 37 3 142896297 142896297 + RNA SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 3 142896297 142896297 C T SNP PBX2P1 ENST00000560287 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PBX2P1 HGNC PCDHA11 56138 genome.wustl.edu 37 5 140249937 140249937 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 5 140249937 140249937 G A SNP PCDHA11 ENST00000398640 human ensembl 70_37 +1 known missense c.1249 p.V417M 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC PCDHB3 56132 genome.wustl.edu 37 5 140481796 140481796 + Silent SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 5 140481796 140481796 C T SNP PCDHB3 ENST00000231130 human ensembl 70_37 +1 known silent c.1563 p.Y521 0.940 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 PCDHB3 HGNC PCDHGB4 8641 genome.wustl.edu 37 5 140768904 140768904 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 5 140768904 140768904 G A SNP PCDHGB4 ENST00000519479 human ensembl 70_37 +1 known missense c.1453 p.V485I 0.004 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC PDE11A 50940 genome.wustl.edu 37 2 178705049 178705049 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 2 178705049 178705049 C T SNP PDE11A ENST00000286063 human ensembl 70_37 -1 known missense c.1429 p.E477K 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE11A HGNC PHTF1 10745 genome.wustl.edu 37 1 114256082 114256082 + RNA SNP G G C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 1 114256082 114256082 G C SNP PHTF1 ENST00000474926 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PHTF1 HGNC PIWIL4 143689 genome.wustl.edu 37 11 94337148 94337148 + Splice_Site SNP A A G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 11 94337148 94337148 A G SNP PIWIL4 ENST00000299001 human ensembl 70_37 +1 known splice_site c.1566-2 e13-2 1.000 - - - no_errors PIWIL4 HGNC PKD1L1 168507 genome.wustl.edu 37 7 47886542 47886542 + Missense_Mutation SNP C C A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 7 47886542 47886542 C A SNP PKD1L1 ENST00000289672 human ensembl 70_37 -1 known missense c.5088 p.K1696N 0.000 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKD1L1 HGNC PLAT 5327 genome.wustl.edu 37 8 42045026 42045026 + Missense_Mutation SNP C C A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 8 42045026 42045026 C A SNP PLAT ENST00000220809 human ensembl 70_37 -1 known missense c.429 p.E143D 0.008 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Peptidase_S1_S6,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PLAT HGNC PLEC 5339 genome.wustl.edu 37 8 144993180 144993180 + Silent SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 8 144993180 144993180 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.11220 p.Q3740 0.021 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLXNA3 55558 genome.wustl.edu 37 X 153695476 153695476 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d X 153695476 153695476 G A SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known missense c.3184 p.G1062S 1.000 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC PPP2CB 5516 genome.wustl.edu 37 8 30657146 30657146 + Silent SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 8 30657146 30657146 C T SNP PPP2CB ENST00000221138 human ensembl 70_37 -1 known silent c.228 p.P76 0.994 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP2CB HGNC PSG2 5670 genome.wustl.edu 37 19 43586753 43586753 + RNA SNP G G T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 19 43586753 43586753 G T SNP PSG2 ENST00000491995 human ensembl 70_37 -1 known rna NULL NULL 0.015 - - - no_errors PSG2 HGNC QRICH2 84074 genome.wustl.edu 37 17 74289415 74289415 + Missense_Mutation SNP G G C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 17 74289415 74289415 G C SNP QRICH2 ENST00000262765 human ensembl 70_37 -1 known missense c.895 p.L299V 0.000 NULL NULL - no_errors QRICH2 HGNC RGS2 5997 genome.wustl.edu 37 1 192779519 192779519 + Nonsense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 1 192779519 192779519 C T SNP RGS2 ENST00000235382 human ensembl 70_37 +1 known nonsense c.232 p.Q78* 0.829 superfamily_Regulat_G_prot_signal_superfam pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS2 HGNC RIMS1 22999 genome.wustl.edu 37 6 72889509 72889509 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 6 72889509 72889509 C T SNP RIMS1 ENST00000521978 human ensembl 70_37 +1 known missense c.703 p.P235S 0.066 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC RUFY1 80230 genome.wustl.edu 37 5 179021873 179021873 + Missense_Mutation SNP G G C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 5 179021873 179021873 G C SNP RUFY1 ENST00000319449 human ensembl 70_37 +1 known missense c.1420 p.E474Q 1.000 NULL pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel,pfscan_Znf_RING - no_errors RUFY1 HGNC SCN11A 11280 genome.wustl.edu 37 3 38889083 38889083 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 3 38889083 38889083 G A SNP SCN11A ENST00000302328 human ensembl 70_37 -1 known missense c.4478 p.S1493L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC SCNM1 79005 genome.wustl.edu 37 1 151139288 151139288 + RNA SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 1 151139288 151139288 G A SNP SCNM1 ENST00000497147 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors SCNM1 HGNC SDAD1P1 157489 genome.wustl.edu 37 8 26238480 26238480 + RNA SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 8 26238480 26238480 C T SNP SDAD1P1 ENST00000519902 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SDAD1P1 HGNC SLC13A1 6561 genome.wustl.edu 37 7 122755586 122755586 + Nonsense_Mutation SNP C C A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 7 122755586 122755586 C A SNP SLC13A1 ENST00000194130 human ensembl 70_37 -1 known nonsense c.1774 p.E592* 0.001 NULL pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC SLC18A2 6571 genome.wustl.edu 37 10 119029903 119029903 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 10 119029903 119029903 G A SNP SLC18A2 ENST00000298472 human ensembl 70_37 +1 known missense c.1369 p.G457R 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A2 HGNC SLC1A2 6506 genome.wustl.edu 37 11 35336587 35336587 + Missense_Mutation SNP A A T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 11 35336587 35336587 A T SNP SLC1A2 ENST00000278379 human ensembl 70_37 -1 known missense c.293 p.I98N 1.000 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A2 HGNC SMAD1 4086 genome.wustl.edu 37 4 146435948 146435948 + Silent SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 4 146435948 146435948 G A SNP SMAD1 ENST00000302085 human ensembl 70_37 +1 known silent c.183 p.P61 0.924 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD1 HGNC SNORD3D 780854 genome.wustl.edu 37 17 19015709 19015709 + RNA SNP T T C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 17 19015709 19015709 T C SNP SNORD3D ENST00000573866 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors RP11-160E2.6 Clone_based_vega_gene SPATA16 83893 genome.wustl.edu 37 3 172766842 172766842 + Missense_Mutation SNP G G T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 3 172766842 172766842 G T SNP SPATA16 ENST00000351008 human ensembl 70_37 -1 known missense c.655 p.P219T 0.996 NULL NULL - no_errors SPATA16 HGNC SRRM2 23524 genome.wustl.edu 37 16 2813800 2813801 + Frame_Shift_Ins INS - - A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 16 2813800 2813801 - A INS SRRM2 ENST00000301740 human ensembl 70_37 +1 known frame_shift_ins c.3271_3272 p.T1092fs 0.969:0.793 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC STAG3 10734 genome.wustl.edu 37 7 99799930 99799930 + Missense_Mutation SNP C C A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 7 99799930 99799930 C A SNP STAG3 ENST00000317296 human ensembl 70_37 +1 known missense c.2530 p.H844N 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG3 HGNC TCEB3 6924 genome.wustl.edu 37 1 24078184 24078184 + Missense_Mutation SNP G G C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 1 24078184 24078184 G C SNP TCEB3 ENST00000418390 human ensembl 70_37 +1 known missense c.1167 p.E389D 1.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like - no_errors TCEB3 HGNC TENC1 23371 genome.wustl.edu 37 12 53454245 53454245 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 12 53454245 53454245 C T SNP TENC1 ENST00000314276 human ensembl 70_37 +1 known missense c.2704 p.R902W 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC TPX2 22974 genome.wustl.edu 37 20 30371595 30371595 + Silent SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 20 30371595 30371595 C T SNP TPX2 ENST00000340513 human ensembl 70_37 +1 known silent c.1392 p.T464 0.997 pfam_TPX2_importin pfam_TPX2_importin,pfam_Aurora-A-bd,pfam_Xklp2_targeting_prot - no_errors TPX2 HGNC TRIM9 114088 genome.wustl.edu 37 14 51446219 51446219 + Missense_Mutation SNP G G T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 14 51446219 51446219 G T SNP TRIM9 ENST00000338969 human ensembl 70_37 -1 known missense c.2199 p.D733E 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC TRPC4AP 26133 genome.wustl.edu 37 20 33594341 33594341 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 20 33594341 33594341 G A SNP TRPC4AP ENST00000252015 human ensembl 70_37 -1 known missense c.1724 p.S575L 0.999 pfam_DUF3689 pfam_DUF3689 - no_errors TRPC4AP HGNC TRPM3 80036 genome.wustl.edu 37 9 73225620 73225620 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 9 73225620 73225620 C T SNP TRPM3 ENST00000423814 human ensembl 70_37 -1 known missense c.2617 p.E873K 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC TTC21B 79809 genome.wustl.edu 37 2 166773832 166773832 + Missense_Mutation SNP C C A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 2 166773832 166773832 C A SNP TTC21B ENST00000243344 human ensembl 70_37 -1 known missense c.1834 p.D612Y 0.999 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC TTN 7273 genome.wustl.edu 37 2 179495034 179495034 + Missense_Mutation SNP C C G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 2 179495034 179495034 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.36511 p.D12171H 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179605180 179605180 + Silent SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 2 179605180 179605180 C T SNP TTN ENST00000342175 human ensembl 70_37 -1 known silent c.12267 p.A4089 0.000 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TUBGCP2 10844 genome.wustl.edu 37 10 135094896 135094896 + Silent SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 10 135094896 135094896 G A SNP TUBGCP2 ENST00000543663 human ensembl 70_37 -1 known silent c.2538 p.F846 0.894 NULL pfam_Spc97_Spc98,superfamily_Ocr - no_errors TUBGCP2 HGNC UBAC1 10422 genome.wustl.edu 37 9 138847247 138847247 + Silent SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 9 138847247 138847247 G A SNP UBAC1 ENST00000371756 human ensembl 70_37 -1 known silent c.153 p.S51 1.000 NULL pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAC1 HGNC UHRF1BP1 54887 genome.wustl.edu 37 6 34840174 34840174 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 6 34840174 34840174 C T SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known missense c.4282 p.L1428F 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ULK2 9706 genome.wustl.edu 37 17 19746514 19746514 + Nonsense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 17 19746514 19746514 G A SNP ULK2 ENST00000361658 human ensembl 70_37 -1 known nonsense c.565 p.Q189* 1.000 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,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC UPF2 26019 genome.wustl.edu 37 10 11994158 11994158 + Missense_Mutation SNP C C G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 10 11994158 11994158 C G SNP UPF2 ENST00000356352 human ensembl 70_37 -1 known missense c.2941 p.E981Q 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC USP11 8237 genome.wustl.edu 37 X 47106743 47106743 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d X 47106743 47106743 G A SNP USP11 ENST00000218348 human ensembl 70_37 +1 known missense c.2590 p.E864K 0.308 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP11 HGNC ZC3H12A 80149 genome.wustl.edu 37 1 37948736 37948736 + Missense_Mutation SNP T T C TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 1 37948736 37948736 T C SNP ZC3H12A ENST00000373082 human ensembl 70_37 +1 known missense c.1324 p.S442P 1.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ZFP36 7538 genome.wustl.edu 37 19 39898462 39898462 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 19 39898462 39898462 C T SNP ZFP36 ENST00000597629 human ensembl 70_37 +1 known missense c.122 p.S41L 0.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36 HGNC ZNF454 285676 genome.wustl.edu 37 5 178392175 178392175 + Missense_Mutation SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 5 178392175 178392175 C T SNP ZNF454 ENST00000320129 human ensembl 70_37 +1 known missense c.770 p.S257F 0.001 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 ZNF454 HGNC ZNF546 339327 genome.wustl.edu 37 19 40513243 40513243 + Silent SNP C C T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 19 40513243 40513243 C T SNP ZNF546 ENST00000347077 human ensembl 70_37 +1 known silent c.234 p.D78 0.040 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF546 HGNC ZNF606 80095 genome.wustl.edu 37 19 58491316 58491316 + Silent SNP A A G TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 85ef0ee0-dd3d-4733-89e7-1fb876ad266a b6cb5ac1-ed74-4096-b0f4-9960384a128d 19 58491316 58491316 A G SNP ZNF606 ENST00000341164 human ensembl 70_37 -1 known silent c.732 p.A244 0.170 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 ZNF606 HGNC