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 transcript_name strand transcript_status amino_acid_change ucsc_cons normal_depth normal_vaf tumor_depth tumor_vaf rna_depth rna_vaf polyphen sift condel domain NOL9 79707 genome.wustl.edu 37 1 6610651 6610651 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024654.4 -1 validated p.R141C 0.016 69 0% 95 30.5% 2 50% benign(0.007) tolerated(0.06) neutral(0.323) NULL CAMTA1 23261 genome.wustl.edu 37 1 7798304 7798304 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015215.1 +1 validated p.S1315Y 0.051 61 0% 79 34.2% 0 - possibly_damaging(0.455) deleterious(0) deleterious(0.594) NULL PTCHD2 57540 genome.wustl.edu 37 1 11579454 11579454 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020780.1 +1 validated p.P644 0.023 23 0% 48 33.3% 0 - - - - HMMPfam_Patched PRAMEF10 343071 genome.wustl.edu 37 1 12953077 12953077 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001039361.3 -1 validated p.Q365 0.004 153 0% 193 23.8% 0 - - - - superfamily_SSF52047 PRAMEF4 400735 genome.wustl.edu 37 1 13052804 13052804 + Silent SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000414205 -1 known p.I453 0.000 112 0% 159 57.2% 0 - - - - NULL CELA2B 51032 genome.wustl.edu 37 1 15808871 15808871 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015849.2 +1 reviewed p.S113 0.025 58 0% 84 36.9% 0 - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys DDI2 84301 genome.wustl.edu 37 1 15956903 15956903 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032341.3 +1 provisional p.S118A 0.612 133 0% 167 33.5% 1 0% benign(0) tolerated(0.53) neutral(0.007) NULL SPEN 23013 genome.wustl.edu 37 1 16260589 16260589 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015001.2 +1 reviewed p.I2618M 1.000 212 0% 411 32.1% 1 0% possibly_damaging(0.578) tolerated(0.09) deleterious(0.495) NULL PADI3 51702 genome.wustl.edu 37 1 17592195 17592195 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016233.2 +1 reviewed p.D130N 0.043 38 0% 72 31.9% 0 - benign(0.07) tolerated(0.07) neutral(0.324) HMMPfam_PAD_M,superfamily_PAD_central PADI4 23569 genome.wustl.edu 37 1 17690064 17690064 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_012387.2 +1 reviewed p.F602 0.982 9 0.000 20 0.400 0 - - - - HMMPfam_PAD,superfamily_Pentein UBR4 23352 genome.wustl.edu 37 1 19449454 19449454 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020765.2 -1 validated p.L3230S 1.000 58 0% 66 24.2% 0 - benign(0.08) deleterious(0.02) neutral(0.389) superfamily_ARM repeat EIF4G3 8672 genome.wustl.edu 37 1 21226374 21226374 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003760.3 -1 validated p.S549R 1.000 251 0% 275 33.5% 5 20% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL TCEB3 6924 genome.wustl.edu 37 1 24077385 24077385 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003198.2 +1 reviewed p.R123H 1.000 42 0% 57 35.1% 6 83.3% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL IL22RA1 58985 genome.wustl.edu 37 1 24447553 24447553 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_021258.2 -1 reviewed p.P489 0.000 50 0% 76 32.9% 0 - - - - NULL SYF2 25949 genome.wustl.edu 37 1 25549839 25549839 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015484.4 -1 reviewed p.K217T 1.000 146 0% 223 33.2% 171 49.1% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_SYF2 ARID1A 8289 genome.wustl.edu 37 1 27106354 27106354 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006015.4 +1 reviewed p.R1989* 1.000 152 0% 283 33.2% 20 50% - - - NULL SMPDL3B 27293 genome.wustl.edu 37 1 28282236 28282236 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014474.2 +1 validated p.K244N 1.000 23 0% 34 41.2% 24 54.1% probably_damaging(0.998) tolerated(0.31) deleterious(0.501) HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases MECR 51102 genome.wustl.edu 37 1 29542570 29542570 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016011.2 -1 validated p.N118S 0.001 64 0% 77 20.8% 57 31.5% benign(0) tolerated(0.72) neutral(0.002) superfamily_GroES-like,HMMPfam_ADH_N PTP4A2 8073 genome.wustl.edu 37 1 32381554 32381554 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_080391.2 -1 reviewed p.R44Q 1.000 46 0% 38 23.7% 188 21.2% possibly_damaging(0.751) deleterious(0.01) deleterious(0.681) HMMPfam_Y_phosphatase,superfamily_(Phosphotyrosine protein) phosphatases II RNF19B 127544 genome.wustl.edu 37 1 33407869 33407869 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_153341.2 -1 validated p.K533E 0.999 59 0% 86 33.7% 18 33.3% benign(0.273) tolerated(0.26) neutral(0.063) NULL AK2 204 genome.wustl.edu 37 1 33478683 33478683 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000398192 -1 known p.S192* 0.000 121 0% 170 30% 32 40.6% - - - NULL ZSCAN20 7579 genome.wustl.edu 37 1 33960712 33960712 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_145238.3 +1 validated p.R923H 0.999 153 1.3% 205 36.6% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers THRAP3 9967 genome.wustl.edu 37 1 36752334 36752334 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005119.3 +1 validated p.R168Q 1.000 422 0% 525 10.5% 20 5% unknown(0) tolerated(0.32) - NULL MACF1 23499 genome.wustl.edu 37 1 39776606 39776606 + Silent SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000372925 +1 known p.S207A 0.031 169 0% 164 37.8% 0 - - - - superfamily_Spectrin repeat PABPC4 8761 genome.wustl.edu 37 1 40033458 40033458 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001135653.1 -1 reviewed p.E313* 1.000 36 0% 51 19.6% 113 0.8% - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 RLF 6018 genome.wustl.edu 37 1 40702949 40702949 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_012421.3 +1 validated p.N859D 1.000 158 0% 153 30.7% 1 100% benign(0) tolerated(0.69) neutral(0.002) NULL RLF 6018 genome.wustl.edu 37 1 40703170 40703170 + Silent SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_012421.3 +1 validated p.V932 1.000 182 0% 180 12.2% 1 0% - - - NULL ZNF643 65243 genome.wustl.edu 37 1 40922962 40922962 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000431552 +1 known p.F27L 0.349 106 0% 164 32.3% 1 0% benign(0.003) tolerated(0.65) neutral(0.003) NULL ERI3 79033 genome.wustl.edu 37 1 44687243 44687243 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024066.1 -1 validated p.S334L 0.998 27 0% 72 30.6% 227 44.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAF1 11124 genome.wustl.edu 37 1 50917800 50917800 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000371778 -1 known p.F451 0.000 150 0% 202 26.2% 0 - - - - NULL OSBPL9 114883 genome.wustl.edu 37 1 52212425 52212425 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_148909.1 +1 reviewed p.R176K 1.000 245 0% 264 31.4% 2 0% possibly_damaging(0.925) tolerated(1) neutral(0.373) NULL ECHDC2 55268 genome.wustl.edu 37 1 53377404 53377404 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018281.2 -1 validated p.F60 0.023 67 0% 121 33.9% 4 0% - - - HMMPfam_ECH,superfamily_SSF52096 TTC4 7268 genome.wustl.edu 37 1 55182302 55182302 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004623.3 +1 validated p.S47 0.999 70 0% 139 26.6% 7 28.5% - - - NULL PPAP2B 8613 genome.wustl.edu 37 1 56962285 56962285 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003713.3 -1 reviewed p.R292W 1.000 65 0% 95 24.2% 22 45.4% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL DOCK7 85440 genome.wustl.edu 37 1 62923270 62923270 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_033407.2 -1 validated p.P2076T 1.000 211 0% 233 32.2% 52 51.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ded_cyto PGM1 5236 genome.wustl.edu 37 1 64097420 64097420 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002633.2 +1 reviewed p.R217* 0.986 191 0% 200 34% 21 0% - - - HMMPfam_PGM_PMM_II,superfamily_Phosphoglucomutase first 3 domains CACHD1 57685 genome.wustl.edu 37 1 65143958 65143958 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020925.2 +1 validated p.A1019V 1.000 92 0% 107 29% 6 50% possibly_damaging(0.926) deleterious(0.02) deleterious(0.758) NULL C1orf141 400757 genome.wustl.edu 37 1 67558815 67558815 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001013674.1 -1 predicted p.I359T 0.000 242 0% 196 33.2% 0 - benign(0.001) tolerated(1) - NULL IL12RB2 3595 genome.wustl.edu 37 1 67786113 67786113 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001559.2 +1 reviewed p.I21T 0.001 170 0% 234 35.5% 0 - benign(0) tolerated(0.24) neutral(0.037) NULL IL12RB2 3595 genome.wustl.edu 37 1 67787359 67787359 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001559.2 +1 reviewed p.C51R 0.965 307 0% 387 31.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lep_receptor_Ig LRRC7 57554 genome.wustl.edu 37 1 70504471 70504471 + Silent SNP C C T rs149666972 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020794.2 +1 validated p.I950 0.123 142 0% 106 25.5% 0 - - - - NULL SLC44A5 204962 genome.wustl.edu 37 1 75862295 75862295 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152697.4 -1 validated p.D9Y 0.019 251 0% 225 33.8% 0 - benign(0.009) deleterious(0.02) neutral(0.384) NULL MSH4 4438 genome.wustl.edu 37 1 76378490 76378490 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002440.2 +1 validated p.R910Q 0.930 40 0% 33 30.3% 0 - benign(0.091) tolerated(0.27) neutral(0.040) NULL GIPC2 54810 genome.wustl.edu 37 1 78601371 78601371 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017655.4 +1 validated p.E298K 1.000 69 0% 68 27.9% 0 - probably_damaging(0.998) tolerated(0.09) deleterious(0.771) NULL ELTD1 64123 genome.wustl.edu 37 1 79403522 79403522 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_022159.3 -1 validated p.T244P 0.976 377 0% 332 31.3% 2 0% possibly_damaging(0.804) deleterious(0.03) deleterious(0.667) NULL LPHN2 23266 genome.wustl.edu 37 1 82450946 82450946 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_012302.2 +1 reviewed p.R1122C 1.000 109 0% 65 41.5% 16 56.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Latrophilin MCOLN3 55283 genome.wustl.edu 37 1 85499896 85499896 + Silent SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018298.9 -1 validated p.A145 0.626 202 0% 291 30.6% 0 - - - - NULL WDR63 126820 genome.wustl.edu 37 1 85546930 85546930 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_145172.3 +1 validated p.I39M 0.998 220 0% 238 34% 0 - probably_damaging(0.995) tolerated(0.07) deleterious(0.776) NULL CCBL2 56267 genome.wustl.edu 37 1 89434395 89434395 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000260508 -1 known p.K87N 0.994 206 0% 192 41.1% 6 33.3% benign(0) tolerated(0.3) neutral(0.029) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases LRRC8C 84230 genome.wustl.edu 37 1 90179768 90179768 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032270.4 +1 validated p.L547I 1.000 172 0% 180 28.3% 5 0% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) superfamily_L domain-like ZNF644 84146 genome.wustl.edu 37 1 91404171 91404171 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_201269.1 -1 validated p.D914N 0.996 152 0% 155 34.2% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RPAP2 79871 genome.wustl.edu 37 1 92846403 92846403 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000370343 +1 known p.I604T 0.983 259 0% 317 30.3% 12 66.6% benign(0.273) deleterious(0.01) neutral(0.435) NULL MTF2 22823 genome.wustl.edu 37 1 93594890 93594890 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007358.3 +1 validated p.R349C 1.000 230 0% 165 35.8% 5 40% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL VAV3 10451 genome.wustl.edu 37 1 108247212 108247212 + Silent SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006113.4 -1 reviewed p.C555 1.000 102 0% 99 37.4% 1 100% - - - HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain VAV3 10451 genome.wustl.edu 37 1 108292213 108292213 + Silent SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006113.4 -1 reviewed p.H421 1.000 108 0% 105 28.6% 0 - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like HENMT1 113802 genome.wustl.edu 37 1 109191496 109191496 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001102592.1 -1 validated p.E292* 0.000 122 0% 124 29.8% 1 0% - - - NULL KCNA10 3744 genome.wustl.edu 37 1 111060956 111060956 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005549.2 -1 reviewed p.R152W 1.000 97 0% 146 25.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold CHI3L2 1117 genome.wustl.edu 37 1 111773412 111773412 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004000.2 +1 validated p.R40Q 0.008 72 0% 104 36.5% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Glyco_hydro_18,HMMSmart_Glyco_18,superfamily_Glyco_hydro_cat ADORA3 140 genome.wustl.edu 37 1 112045905 112045905 + Silent SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020683.6 -1 reviewed p.L24 0.180 44 0% 68 35.3% 0 - - - - superfamily_SSF81321 WNT2B 7482 genome.wustl.edu 37 1 113059774 113059774 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024494.2 +1 reviewed p.K238T 1.000 81 0% 117 25.6% 0 - possibly_damaging(0.523) deleterious(0) deleterious(0.621) HMMPfam_wnt,HMMSmart_SM00097,PatternScan_WNT1 LOC128322 128322 genome.wustl.edu 37 1 113291091 113291091 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_060943.1 +1 model p.F125 1.000 24 0% 58 29.3% 0 - - - - superfamily_NTF2-like PHTF1 10745 genome.wustl.edu 37 1 114246723 114246723 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006608.2 -1 validated p.A624T 1.000 113 0% 109 26.6% 15 26.6% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL HIPK1 204851 genome.wustl.edu 37 1 114511225 114511225 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_198268.1 +1 reviewed p.R909Q 1.000 134 0% 158 27.2% 1 0% probably_damaging(0.965) tolerated(0.07) deleterious(0.726) NULL ATP1A1 476 genome.wustl.edu 37 1 116944182 116944182 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000701.7 +1 reviewed p.K952 1.000 388 0% 579 31.1% 1161 46.9% - - - HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M LOC100287935 100287935 genome.wustl.edu 37 1 117150721 117150721 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_002342105.1 +1 model p.A69T 0.543 245 0% 357 22.4% 3 0% - - - NULL HAO2 51179 genome.wustl.edu 37 1 119936434 119936434 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001005783.1 +1 reviewed p.R343* 0.007 202 0% 201 14.9% 0 - - - - HMMPfam_FMN_dh,superfamily_FMN-linked oxidoreductases PHGDH 26227 genome.wustl.edu 37 1 120286511 120286511 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006623.3 +1 reviewed p.L484F 1.000 82 0% 202 31.2% 328 48.1% probably_damaging(0.978) deleterious(0.02) deleterious(0.803) NULL PDE4DIP 9659 genome.wustl.edu 37 1 144874014 144874014 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014644.4 -1 validated p.S1648L 0.901 314 0% 504 15.5% 1 0% unknown(0) tolerated(0.35) - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144946740 144946740 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014644.4 -1 validated p.R174I 0.917 114 0% 128 14.1% 0 - unknown(0) tolerated(0.12) - NULL HFE2 148738 genome.wustl.edu 37 1 145415319 145415319 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_213653.3 +1 reviewed p.Y46 0.556 45 0% 76 18.4% 0 - - - - HMMPfam_RGM_N RBM8A 9939 genome.wustl.edu 37 1 145509027 145509027 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005105.2 +1 reviewed p.R152W 1.000 134 0.7% 207 14.5% 584 15.7% unknown(0) deleterious(0) - superfamily_RNA-binding domain RBD PIAS3 10401 genome.wustl.edu 37 1 145581189 145581189 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006099.3 +1 reviewed p.E306D 1.000 49 0% 86 36% 27 48.1% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) superfamily_SSF57850 SV2A 9900 genome.wustl.edu 37 1 149885062 149885062 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014849.3 -1 validated p.E111K 1.000 97 0% 205 38% 2 50% benign(0) tolerated(0.46) neutral(0.012) NULL SEMA6C 10500 genome.wustl.edu 37 1 151111186 151111186 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_030913.4 -1 reviewed p.R126C 1.000 20 0% 38 34.2% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain CGN 57530 genome.wustl.edu 37 1 151495983 151495983 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020770.2 +1 validated p.R405Q 0.191 40 0% 74 44.6% 6 50% benign(0.006) tolerated(0.49) neutral(0.011) NULL CGN 57530 genome.wustl.edu 37 1 151509750 151509750 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020770.2 +1 validated p.F1180 0.922 50 0% 81 27.2% 25 56% - - - NULL TCHH 7062 genome.wustl.edu 37 1 152079924 152079924 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007113.2 -1 provisional p.V1923 0.000 394 0% 454 34.6% 0 - - - - NULL HRNR 388697 genome.wustl.edu 37 1 152193610 152193610 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001009931.1 -1 validated p.F165L 0.000 51 0% 92 17.4% 0 - benign(0.07) - - NULL FLG 2312 genome.wustl.edu 37 1 152281985 152281985 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002016.1 -1 reviewed p.R1793C 0.000 108 0% 256 34.4% 0 - unknown(0) tolerated(0.07) - NULL KPRP 448834 genome.wustl.edu 37 1 152732864 152732864 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001025231.1 +1 provisional p.R267H 0.997 90 0% 106 41.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CREB3L4 148327 genome.wustl.edu 37 1 153946099 153946099 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_130898.2 +1 provisional p.L301I 1.000 22 0% 42 28.6% 54 42.5% possibly_damaging(0.535) tolerated(0.13) neutral(0.433) NULL ATP8B2 57198 genome.wustl.edu 37 1 154303314 154303314 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020452.3 +1 reviewed p.K71N 1.000 29 0% 70 38.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81665 ATP8B2 57198 genome.wustl.edu 37 1 154306691 154306691 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020452.3 +1 reviewed p.G266D 1.000 107 0% 224 13.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF81665 SHC1 6464 genome.wustl.edu 37 1 154936832 154936832 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000368441 -1 known p.A218T 0.005 5 0.000 7 0.571 0 - unknown(0) tolerated(0.16) - HMMPfam_SH2,HMMSmart_SM00252 SCAMP3 10067 genome.wustl.edu 37 1 155230379 155230379 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005698.2 -1 reviewed p.S72 0.169 59 0% 124 35.5% 63 38% - - - NULL NES 10763 genome.wustl.edu 37 1 156641579 156641579 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006617.1 -1 reviewed p.N801D 0.003 21 0% 71 29.6% 8 12.5% benign(0.073) tolerated(0.25) neutral(0.042) NULL CD1C 911 genome.wustl.edu 37 1 158261923 158261923 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000443761 +1 known p.E61* 0.000 659 0.2% 620 34.7% 2 0% benign(0.002) tolerated(0.73) neutral(0.002) superfamily_MHC antigen-recognition domain ATP1A2 477 genome.wustl.edu 37 1 160104995 160104995 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000447527 +1 known p.S386L 0.998 63 0% 109 33% 0 - - - - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M ATP1A4 480 genome.wustl.edu 37 1 160147351 160147351 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_144699.3 +1 reviewed p.I878T 1.000 134 0% 224 27.2% 0 - possibly_damaging(0.886) deleterious(0) deleterious(0.791) HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M COPA 1314 genome.wustl.edu 37 1 160275367 160275367 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001098398.1 -1 reviewed p.L517R 1.000 174 0% 230 28.3% 4 75% benign(0.009) tolerated(0.31) neutral(0.028) HMMPfam_Coatomer_WDAD USF1 7391 genome.wustl.edu 37 1 161012670 161012670 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007122.3 -1 reviewed p.Q4P 1.000 59 0% 133 34.6% 20 25% benign(0.017) deleterious(0) neutral(0.445) NULL USP21 27005 genome.wustl.edu 37 1 161134637 161134637 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001014443.2 +1 reviewed p.F466C 1.000 83 0% 184 31% 50 38% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_UCH,superfamily_Cysteine proteinases FCGR2A 2212 genome.wustl.edu 37 1 161487879 161487879 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001136219.1 +1 reviewed p.D299N 0.003 141 0% 187 26.2% 8 0% possibly_damaging(0.85) tolerated(0.2) neutral(0.376) NULL ATF6 22926 genome.wustl.edu 37 1 161771928 161771928 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007348.2 +1 validated p.A259S 0.000 200 0% 161 33.5% 9 44.4% benign(0.005) tolerated(0.69) neutral(0.002) NULL SH2D1B 117157 genome.wustl.edu 37 1 162381718 162381718 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_053282.4 -1 validated p.L30S 0.798 76 0% 103 29.1% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain MAEL 84944 genome.wustl.edu 37 1 166991077 166991077 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032858.1 +1 validated p.F430L 1.000 137 0% 141 39% 0 - possibly_damaging(0.94) deleterious(0) deleterious(0.830) NULL SFT2D2 375035 genome.wustl.edu 37 1 168201117 168201117 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_199344.2 +1 validated p.A66T 0.732 50 0% 71 15.5% 9 22.2% possibly_damaging(0.935) deleterious(0) deleterious(0.825) HMMPfam_SFT2 BLZF1 8548 genome.wustl.edu 37 1 169346190 169346190 + Silent SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003666.2 +1 validated p.L147 0.998 283 0% 226 34.5% 9 33.3% - - - NULL SLC19A2 10560 genome.wustl.edu 37 1 169446619 169446619 + Missense_Mutation SNP G G A rs141677505 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006996.2 -1 reviewed p.S194F 1.000 163 0% 162 29% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Folate_carrier,superfamily_MFS general substrate transporter FMO1 2326 genome.wustl.edu 37 1 171236829 171236829 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002021.1 +1 reviewed p.Y94H 1.000 176 0% 215 38.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FMO-like,superfamily_FAD/NAD(P)-binding domain DNM3 26052 genome.wustl.edu 37 1 172062854 172062854 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000359070 +1 known p.S522A 1.000 114 0% 107 28% 2 0% unknown(0) tolerated(0.9) - NULL C1orf105 92346 genome.wustl.edu 37 1 172425603 172425603 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_139240.3 +1 validated p.C83R 0.305 144 0% 200 29.5% 0 - possibly_damaging(0.952) deleterious(0) deleterious(0.840) NULL LOC646870 646870 genome.wustl.edu 37 1 173331937 173331937 + RNA SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XR_040282.2 -1 model NULL 1.000 62 0% 109 26.6% 0 - - - - - RC3H1 149041 genome.wustl.edu 37 1 173934254 173934254 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_172071.2 -1 validated p.R447C 1.000 117 0% 100 19% 2 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_CCCH zinc finger GPR52 9293 genome.wustl.edu 37 1 174417376 174417376 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005684.4 +1 validated p.E43K 1.000 186 0.5% 186 32.3% 0 - probably_damaging(0.999) tolerated(0.26) deleterious(0.524) superfamily_SSF81321 TNR 7143 genome.wustl.edu 37 1 175348869 175348869 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003285.2 -1 validated p.I594 0.989 55 0% 71 25.4% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060 TNR 7143 genome.wustl.edu 37 1 175355408 175355408 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003285.2 -1 validated p.R513C 1.000 55 0% 66 31.8% 0 - probably_damaging(0.997) deleterious(0.04) deleterious(0.815) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ASTN1 460 genome.wustl.edu 37 1 176903425 176903425 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004319.1 -1 validated p.F845S 1.000 193 0% 204 11.3% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMSmart_MACPF RASAL2 9462 genome.wustl.edu 37 1 178412233 178412233 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_170692.2 +1 reviewed p.E433* 1.000 269 0% 221 34.4% 0 - - - - HMMSmart_RasGAP,superfamily_Rho_GAP RALGPS2 55103 genome.wustl.edu 37 1 178846735 178846735 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152663.3 +1 validated p.R237Q 1.000 156 0.6% 106 39.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00147,superfamily_Ras GEF SOAT1 6646 genome.wustl.edu 37 1 179304680 179304680 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003101.4 +1 provisional p.F73V 1.000 120 0% 182 31.9% 5 60% benign(0.001) tolerated(0.21) neutral(0.044) NULL GLUL 2752 genome.wustl.edu 37 1 182353708 182353708 + Silent SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001033044.2 -1 reviewed p.N318 1.000 103 0% 145 38.6% 307 51.1% - - - HMMPfam_Gln-synt_C,superfamily_Glutamine synthetase/guanido kinase RGS8 85397 genome.wustl.edu 37 1 182640797 182640797 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_033345.2 -1 reviewed p.Q25 1.000 69 0% 103 34% 0 - - - - NULL NPL 80896 genome.wustl.edu 37 1 182797955 182797955 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_030769.1 +1 provisional p.F292C 0.992 112 0% 125 32% 1 0% unknown(0) deleterious(0.01) - HMMPfam_DHDPS,superfamily_Aldolase DHX9 1660 genome.wustl.edu 37 1 182852658 182852658 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001357.4 +1 reviewed p.R1050* 1.000 196 0% 186 31.7% 116 2.5% - - - HMMPfam_DUF1605 FAM129A 116496 genome.wustl.edu 37 1 184801012 184801012 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_052966.2 -1 validated p.S229Y 0.815 108 0% 105 19% 1 0% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL HMCN1 83872 genome.wustl.edu 37 1 186113786 186113786 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_031935.2 +1 reviewed p.C4739 1.000 169 0% 169 32% 1 100% - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat PRG4 10216 genome.wustl.edu 37 1 186277958 186277958 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005807.3 +1 reviewed p.K1036T 0.137 152 0% 163 30.1% 1 0% unknown(0) - - NULL TPR 7175 genome.wustl.edu 37 1 186330017 186330017 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003292.2 -1 reviewed p.H327N 1.000 100 0% 96 28.1% 2 50% possibly_damaging(0.647) tolerated(0.09) deleterious(0.523) NULL CFHR5 81494 genome.wustl.edu 37 1 196965163 196965163 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_030787.3 +1 reviewed p.T268A 0.082 209 0% 175 29.7% 0 - benign(0.001) tolerated(0.67) neutral(0.003) superfamily_Complement_control_module CFHR5 81494 genome.wustl.edu 37 1 196977685 196977685 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_030787.3 +1 reviewed p.K528Q 0.065 87 0% 118 28% 0 - probably_damaging(0.978) deleterious(0.05) deleterious(0.766) HMMSmart_CCP,superfamily_Complement_control_module F13B 2165 genome.wustl.edu 37 1 197009749 197009749 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001994.2 -1 reviewed p.D619Y 0.000 129 0% 109 27.5% 0 - benign(0.313) tolerated(0.09) neutral(0.394) superfamily_Complement_control_module F13B 2165 genome.wustl.edu 37 1 197030122 197030122 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001994.2 -1 reviewed p.E179K 0.000 178 0% 145 40.7% 0 - benign(0.001) tolerated(0.62) neutral(0.004) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module F13B 2165 genome.wustl.edu 37 1 197030980 197030980 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001994.2 -1 reviewed p.D129Y 0.036 110 0% 71 29.6% 0 - possibly_damaging(0.906) tolerated(0.07) deleterious(0.678) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module ASPM 259266 genome.wustl.edu 37 1 197065198 197065198 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018136.4 -1 reviewed p.E2973* 0.237 449 0% 331 26.6% 3 33.3% - - - HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197113113 197113113 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018136.4 -1 reviewed p.N139H 1.000 67 0% 91 23.1% 0 - possibly_damaging(0.791) deleterious(0.01) deleterious(0.702) NULL ZBTB41 360023 genome.wustl.edu 37 1 197157560 197157560 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_194314.2 -1 validated p.K470E 1.000 72 0% 77 16.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DENND1B 163486 genome.wustl.edu 37 1 197581104 197581104 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001142795.1 -1 validated p.A239V 1.000 96 1% 63 28.6% 2 50% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_DENN,HMMSmart_SM00799 ZNF281 23528 genome.wustl.edu 37 1 200378492 200378492 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_012482.3 -1 provisional p.Q114 1.000 13 0% 10 40% 0 - - - - NULL KIF14 9928 genome.wustl.edu 37 1 200587658 200587658 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014875.2 -1 validated p.R65I 0.998 82 0% 91 28.6% 1 100% benign(0.066) deleterious(0) neutral(0.449) NULL PRELP 5549 genome.wustl.edu 37 1 203455912 203455912 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002725.3 +1 reviewed p.H351R 1.000 28 0% 73 20.5% 9 0% benign(0.005) tolerated(1) - HMMPfam_LRR_1,superfamily_L domain-like NFASC 23114 genome.wustl.edu 37 1 204978754 204978754 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015090.3 +1 reviewed p.L1049P 1.000 38 0% 148 12.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KLHDC8A 55220 genome.wustl.edu 37 1 205307700 205307700 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018203.1 -1 provisional p.S261* 0.880 43 0% 106 29.2% 1 0% - - - superfamily_Gal_oxid_central CR2 1380 genome.wustl.edu 37 1 207643339 207643339 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001006658.2 +1 reviewed p.D373N 0.997 117 0% 122 27.9% 0 - probably_damaging(0.995) tolerated(0.06) deleterious(0.780) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module KCNH1 3756 genome.wustl.edu 37 1 211093408 211093408 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_172362.2 -1 reviewed p.I346L 1.000 193 0% 175 10.3% 2 0% benign(0.006) tolerated(0.17) neutral(0.059) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels FAM71A 149647 genome.wustl.edu 37 1 212799099 212799099 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_153606.3 +1 validated p.G294S 0.016 27 0% 52 44.2% 0 - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) NULL PTPN14 5784 genome.wustl.edu 37 1 214568294 214568294 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005401.4 -1 reviewed p.S265L 0.996 184 0% 252 38.5% 0 - benign(0.151) tolerated(0.12) neutral(0.274) superfamily_SSF50729 CENPF 1063 genome.wustl.edu 37 1 214814828 214814828 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016343.3 +1 reviewed p.K1049N 0.995 128 0% 152 33.6% 3 0% benign(0.003) tolerated(0.34) neutral(0.023) NULL MIA3 375056 genome.wustl.edu 37 1 222825626 222825626 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_198551.2 +1 validated p.C1346 0.997 216 0% 189 29.6% 19 42.1% - - - NULL DNAH14 127602 genome.wustl.edu 37 1 225152189 225152189 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001373.1 +1 validated p.D126Y 0.114 223 0% 149 32.2% 0 - probably_damaging(0.99) deleterious(0.04) deleterious(0.790) NULL LIN9 286826 genome.wustl.edu 37 1 226474059 226474059 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_173083.2 -1 provisional p.R183W 1.000 120 0% 117 28.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DIRP ZNF678 339500 genome.wustl.edu 37 1 227842047 227842047 + Silent SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_178549.3 +1 validated p.S32 0.000 251 0% 200 27.5% 1 100% - - - NULL OBSCN 84033 genome.wustl.edu 37 1 228412333 228412333 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001098623.1 +1 reviewed p.C943R 0.840 40 0% 50 42% 1 0% possibly_damaging(0.736) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin AGT 183 genome.wustl.edu 37 1 230846371 230846371 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000029.3 -1 reviewed p.T76A 0.602 30 0% 50 24% 1 0% benign(0.022) tolerated(0.17) neutral(0.060) superfamily_Serpins GNPAT 8443 genome.wustl.edu 37 1 231403517 231403517 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014236.3 +1 reviewed p.L383 0.997 91 0% 81 29.6% 49 53% - - - NULL KIAA1383 54627 genome.wustl.edu 37 1 232940927 232940927 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_019090.2 +1 validated p.L53R 0.000 165 0% 242 28.1% 0 - unknown(0) - - NULL PCNXL2 80003 genome.wustl.edu 37 1 233393958 233393958 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014801.3 -1 provisional p.N550 0.000 82 0% 77 23.4% 1 100% - - - NULL SLC35F3 148641 genome.wustl.edu 37 1 234367243 234367243 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_173508.2 +1 provisional p.R122C 0.333 19 0% 22 31.8% 0 - probably_damaging(0.98) tolerated(0.15) deleterious(0.665) NULL LYST 1130 genome.wustl.edu 37 1 235920694 235920694 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000081.2 -1 reviewed p.L2316I 1.000 104 0% 112 28.6% 0 - probably_damaging(1) - - NULL C1orf101 257044 genome.wustl.edu 37 1 244724198 244724198 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001130957.1 +1 validated p.F420V 0.027 307 0% 336 32.4% 0 - benign(0.032) tolerated(0.39) neutral(0.018) NULL OR2M2 391194 genome.wustl.edu 37 1 248343830 248343830 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001004688.1 +1 provisional p.F181 0.000 668 0% 655 10.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2M3 127062 genome.wustl.edu 37 1 248366601 248366601 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001004689.1 +1 provisional p.V78I 0.010 877 0.1% 833 31.5% 0 - possibly_damaging(0.526) tolerated(0.15) neutral(0.418) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2T1 26696 genome.wustl.edu 37 1 248570155 248570155 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_030904.1 +1 provisional p.A287V 1.000 81 0% 61 39.3% 0 - probably_damaging(0.968) deleterious(0.02) deleterious(0.793) HMMPfam_7tm_1,superfamily_SSF81321 PXDN 7837 genome.wustl.edu 37 2 1664781 1664781 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_012293.1 -1 validated p.K570T 1.000 13 0% 38 28.9% 1 0% probably_damaging(0.971) deleterious(0.02) deleterious(0.796) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin KIDINS220 57498 genome.wustl.edu 37 2 8873637 8873637 + Silent SNP G G A rs193191007 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020738.2 -1 validated p.F1330 0.984 72 0% 82 40.2% 13 38.4% - - - NULL TRIB2 28951 genome.wustl.edu 37 2 12880833 12880833 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_021643.3 +1 reviewed p.S315 0.735 52 0% 89 36% 4 50% - - - superfamily_Protein kinase-like (PK-like) RAD51AP2 729475 genome.wustl.edu 37 2 17697722 17697722 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001099218.2 -1 provisional p.R654K 0.001 106 0% 86 34.9% 0 - benign(0) tolerated(1) - NULL APOB 338 genome.wustl.edu 37 2 21228133 21228133 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000384.2 -1 reviewed p.F3869L 0.547 131 0% 136 34.6% 0 - possibly_damaging(0.601) - - NULL APOB 338 genome.wustl.edu 37 2 21234018 21234018 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000384.2 -1 reviewed p.D1908N 0.951 349 0% 412 28.9% 0 - probably_damaging(0.992) - - NULL ATAD2B 54454 genome.wustl.edu 37 2 24110849 24110849 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017552.1 -1 validated p.R142Q 1.000 134 0% 185 34.6% 1 100% possibly_damaging(0.582) tolerated(0.15) neutral(0.441) NULL ZNF512 84450 genome.wustl.edu 37 2 27825385 27825385 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032434.2 +1 validated p.R242Q 1.000 85 0% 110 36.4% 4 25% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL NLRC4 58484 genome.wustl.edu 37 2 32475709 32475709 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000360906 -1 known p.F408 0.038 82 0% 100 32% 0 - - - - NULL BIRC6 57448 genome.wustl.edu 37 2 32750029 32750029 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016252.3 +1 reviewed p.E3900* 1.000 23 0% 21 23.8% 2 0% - - - NULL CRIM1 51232 genome.wustl.edu 37 2 36623862 36623862 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016441.1 +1 provisional p.R146Q 1.000 161 0% 163 33.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CRIM1 51232 genome.wustl.edu 37 2 36704088 36704088 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016441.1 +1 provisional p.R350* 1.000 212 0% 211 33.6% 4 0% - - - HMMPfam_VWC,HMMSmart_VWC FAM82A1 151393 genome.wustl.edu 37 2 38202438 38202438 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000431895 +1 known p.E33* 1.000 70 0% 97 32% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DHX57 90957 genome.wustl.edu 37 2 39046215 39046215 + Nonsense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_198963.1 -1 provisional p.Y1121* 0.975 139 0% 153 30.1% 5 0% - - - HMMPfam_HA2 SOS1 6654 genome.wustl.edu 37 2 39224157 39224157 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005633.3 -1 reviewed p.P996L 1.000 88 0% 73 13.7% 6 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00147,superfamily_Ras GEF MSH2 4436 genome.wustl.edu 37 2 47693876 47693876 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000432737 +1 known p.K530E 1.000 179 0% 251 23.1% 6 16.6% benign(0) tolerated(1) - HMMSmart_SM00533,superfamily_DNA repair protein MutS domain III PPP1R21 129285 genome.wustl.edu 37 2 48681781 48681781 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001135629.1 +1 validated p.E58D 1.000 73 0% 100 24% 3 66.6% probably_damaging(0.994) tolerated(0.17) deleterious(0.511) HMMPfam_KLRAQ STON1-GTF2A1L 286749 genome.wustl.edu 37 2 48807793 48807793 + Silent SNP C C G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_172311.1 +1 reviewed p.G7 1.000 203 0% 224 25% 0 - - - - NULL LHCGR 3973 genome.wustl.edu 37 2 48915030 48915030 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000233.3 -1 reviewed p.L636I 0.982 557 0% 470 31.7% 0 - probably_damaging(0.998) tolerated(1) deleterious(0.474) superfamily_Family A G protein-coupled receptor-like USP34 9736 genome.wustl.edu 37 2 61448675 61448675 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014709.3 -1 validated p.P2621S 1.000 115 0% 97 39.2% 6 33.3% probably_damaging(1) - - NULL FAM161A 84140 genome.wustl.edu 37 2 62067453 62067453 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032180.2 -1 validated p.R229Q 0.004 254 0% 315 36.5% 0 - benign(0.078) tolerated(0.6) neutral(0.010) NULL VPS54 51542 genome.wustl.edu 37 2 64174584 64174584 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016516.2 -1 reviewed p.R393I 1.000 84 0% 72 41.7% 0 - possibly_damaging(0.568) deleterious(0.01) deleterious(0.600) NULL AFTPH 54812 genome.wustl.edu 37 2 64794728 64794728 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_203437.2 +1 validated p.F656 1.000 375 0% 330 32.4% 13 46.1% - - - NULL PLEK 5341 genome.wustl.edu 37 2 68622899 68622899 + Missense_Mutation SNP G G A rs185908473 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002664.2 +1 validated p.R335H 1.000 149 0% 215 30.7% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 ANKRD53 79998 genome.wustl.edu 37 2 71206811 71206811 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001115116.1 +1 validated p.F146 0.708 6 0.000 25 0.400 2 0% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ZNF638 27332 genome.wustl.edu 37 2 71615836 71615836 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000410075 +1 known p.E821K 0.269 56 0% 75 28% 2 50% benign(0) tolerated(0.33) neutral(0.024) NULL EXOC6B 23233 genome.wustl.edu 37 2 72802736 72802736 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015189.1 -1 validated p.R244M 1.000 250 0.4% 179 13.4% 0 - benign(0.242) tolerated(0.42) neutral(0.038) NULL ALMS1 7840 genome.wustl.edu 37 2 73717018 73717018 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015120.4 +1 reviewed p.N2643K 1.000 381 0% 426 32.2% 0 - possibly_damaging(0.942) deleterious(0.05) deleterious(0.732) NULL SLC4A5 57835 genome.wustl.edu 37 2 74483027 74483027 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_021196.3 -1 reviewed p.K300 1.000 17 0% 38 31.6% 0 - - - - HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein HK2 3099 genome.wustl.edu 37 2 75094895 75094895 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000189.4 +1 reviewed p.R120Q 0.507 227 0% 349 37.2% 10 20% benign(0.03) tolerated(0.59) neutral(0.006) HMMPfam_Hexokinase_1,superfamily_SSF53067 CD8A 925 genome.wustl.edu 37 2 87016550 87016550 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001768.6 -1 reviewed p.T174M 0.000 27 0% 27 25.9% 0 - probably_damaging(0.976) tolerated(0.09) deleterious(0.714) NULL SMYD1 150572 genome.wustl.edu 37 2 88367407 88367407 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_198274.2 +1 provisional p.N8 0.111 84 0% 95 33.7% 0 - - - - HMMSmart_SET,superfamily_SSF82199 ANKRD36BP2 645784 genome.wustl.edu 37 2 89100631 89100631 + RNA SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NR_015424.1 +1 predicted NULL 0.453 131 0% 108 20.4% 2 0% - - - - IGKV2-28 28921 genome.wustl.edu 37 2 89521394 89521394 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000482769 -1 known p.L49F 0.000 117 0% 162 22.2% 12 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGKV6D-41 28869 genome.wustl.edu 37 2 90109079 90109079 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000390271 +1 known p.P115L 0.041 98 0% 133 24.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF48726 TRIM43 129868 genome.wustl.edu 37 2 96259976 96259976 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_138800.1 +1 provisional p.L69I 0.000 190 0% 175 25.7% 0 - benign(0.233) tolerated(0.41) neutral(0.038) superfamily_SSF57850 LOC400986 400986 genome.wustl.edu 37 2 96589410 96589410 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_001717763.2 -1 model p.K375T 0.049 69 0% 69 29% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL CIAO1 9391 genome.wustl.edu 37 2 96936923 96936923 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004804.2 +1 validated p.S285L 0.892 46 0% 65 23.1% 128 40.6% possibly_damaging(0.948) tolerated(0.18) neutral(0.447) superfamily_WD40_like UBTFL6 643615 genome.wustl.edu 37 2 98253324 98253324 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_001714896.2 -1 model p.S309 0.984 69 0% 82 9.8% 0 - - - - superfamily_HMG-box UNC50 25972 genome.wustl.edu 37 2 99232901 99232901 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014044.5 +1 validated p.I183S 1.000 197 0% 257 33.1% 39 30.7% possibly_damaging(0.736) deleterious(0) deleterious(0.714) HMMPfam_UNC-50 TSGA10 80705 genome.wustl.edu 37 2 99634676 99634676 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_025244.2 -1 validated p.R687* 1.000 77 0% 105 32.4% 1 0% - - - NULL EIF5B 9669 genome.wustl.edu 37 2 99954028 99954028 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015904.3 +1 reviewed p.K4T 1.000 4 0.000 9 0.444 29 41.3% unknown(0) deleterious(0) - NULL MFSD9 84804 genome.wustl.edu 37 2 103334890 103334890 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032718.3 -1 validated p.K472E 0.763 92 0% 157 39.5% 11 9% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RGPD3 653489 genome.wustl.edu 37 2 107040008 107040008 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001144013.1 -1 validated p.S1472Y 0.001 1156 0% 1068 16.2% 3 0% benign(0.205) deleterious(0.04) neutral(0.369) NULL RGPD4 285190 genome.wustl.edu 37 2 108488664 108488664 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_182588.2 +1 validated p.V1402L 1.000 1048 0% 1002 29.3% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Ran_BP1,HMMSmart_RanBD,superfamily_SSF50729 RANBP2 5903 genome.wustl.edu 37 2 109370341 109370341 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006267.4 +1 reviewed p.E706* 1.000 417 0% 457 32.4% 2 0% - - - NULL ANAPC1 64682 genome.wustl.edu 37 2 112601008 112601008 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_022662.2 -1 validated p.R674H 0.997 94 0% 150 20.7% 2 50% possibly_damaging(0.87) tolerated(0.08) deleterious(0.638) NULL CHCHD5 84269 genome.wustl.edu 37 2 113343900 113343900 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032309.2 +1 provisional p.C89 0.388 30 0% 62 21% 129 81.3% - - - HMMPfam_CHCH IL36B 27177 genome.wustl.edu 37 2 113780347 113780347 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014438.3 -1 reviewed p.K133N 0.022 120 0% 137 31.4% 0 - unknown(0) - - superfamily_Cytokine DDX18 8886 genome.wustl.edu 37 2 118583085 118583085 + Silent SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006773.3 +1 reviewed p.G477 0.980 213 0% 248 36.3% 29 44.8% - - - HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 CNTNAP5 129684 genome.wustl.edu 37 2 125627261 125627261 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_130773.2 +1 reviewed p.Q1119K 0.166 70 0% 62 27.4% 0 - benign(0.001) tolerated(0.3) neutral(0.029) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 MYO7B 4648 genome.wustl.edu 37 2 128331544 128331544 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001080527.1 +1 provisional p.G214 0.998 37 0% 56 42.9% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases LIMS2 55679 genome.wustl.edu 37 2 128396984 128396984 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017980.4 -1 validated p.D324N 1.000 19 0% 86 29.1% 25 32% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_LIM,HMMSmart_LIM UGGT1 56886 genome.wustl.edu 37 2 128877943 128877943 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020120.3 +1 validated p.D296N 0.995 201 0% 308 35.1% 0 - benign(0.029) tolerated(0.12) neutral(0.262) NULL ZNF806 646915 genome.wustl.edu 37 2 133070525 133070525 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_001724242.2 +1 model p.Y33* 0.133 267 0% 352 13.4% 0 - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF806 646915 genome.wustl.edu 37 2 133075879 133075879 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_001724242.2 +1 model p.R447I 0.999 155 0% 190 12.1% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 NCKAP5 344148 genome.wustl.edu 37 2 133542148 133542148 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_207363.2 -1 validated p.D746Y 0.049 187 0% 239 32.2% 0 - possibly_damaging(0.887) deleterious(0) deleterious(0.791) NULL YSK4 80122 genome.wustl.edu 37 2 135741330 135741330 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_025052.3 -1 validated p.K1046N 0.746 97 0% 109 37.6% 1 100% possibly_damaging(0.84) deleterious(0.04) deleterious(0.670) superfamily_Protein kinase-like (PK-like) LCT 3938 genome.wustl.edu 37 2 136567390 136567390 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002299.2 -1 reviewed p.E843* 1.000 85 0% 131 36.6% 0 - - - - HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat SPOPL 339745 genome.wustl.edu 37 2 139310141 139310141 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001001664.2 +1 validated p.R124* 1.000 156 0% 112 33% 1 0% - - - HMMPfam_MATH,HMMSmart_MATH,superfamily_Traf_like NXPH2 11249 genome.wustl.edu 37 2 139428583 139428583 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007226.2 -1 validated p.I235S 1.000 198 0% 145 31.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Neurexophilin LRP1B 53353 genome.wustl.edu 37 2 141473578 141473578 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018557.2 -1 validated p.D1996G 1.000 333 0% 197 32.5% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 142012122 142012122 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018557.2 -1 validated p.F144 0.989 207 0% 198 33.8% 0 - - - - HMMSmart_EGF,PatternScan_EGF_2,superfamily_SSF57196 TNFAIP6 7130 genome.wustl.edu 37 2 152214217 152214217 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007115.2 +1 reviewed p.E13K 1.000 116 0% 110 23.6% 0 - benign(0) tolerated(0.52) neutral(0.009) NULL RIF1 55183 genome.wustl.edu 37 2 152267838 152267838 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018151.4 +1 reviewed p.Y57H 0.002 104 0% 211 32.2% 1 0% benign(0.296) tolerated(0.44) neutral(0.104) superfamily_ARM repeat NEB 4703 genome.wustl.edu 37 2 152476009 152476009 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004543.4 -1 reviewed p.N3367H 1.000 145 0% 173 30.6% 0 - probably_damaging(0.999) tolerated(0.12) deleterious(0.751) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152581461 152581461 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004543.4 -1 reviewed p.M139I 1.000 33 0% 47 14.9% 0 - benign(0.003) tolerated(0.12) neutral(0.261) HMMPfam_Nebulin,HMMSmart_SM00227 KCNJ3 3760 genome.wustl.edu 37 2 155555728 155555728 + Silent SNP C C G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002239.2 +1 reviewed p.G147 1.000 59 0% 81 33.3% 0 - - - - HMMPfam_IRK,superfamily_SSF81324 KCNJ3 3760 genome.wustl.edu 37 2 155711664 155711664 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002239.2 +1 reviewed p.E449* 1.000 221 0% 167 31.1% 0 - - - - NULL BAZ2B 29994 genome.wustl.edu 37 2 160285729 160285729 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_013450.2 -1 validated p.R746H 1.000 112 0% 81 29.6% 1 100% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_MBD,HMMSmart_SM00391,superfamily_DNA-binding domain FIGN 55137 genome.wustl.edu 37 2 164467894 164467894 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018086.2 -1 validated p.S150R 1.000 300 0% 238 16.8% 0 - probably_damaging(0.989) tolerated(0.13) deleterious(0.692) NULL SCN3A 6328 genome.wustl.edu 37 2 165947689 165947689 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006922.3 -1 reviewed p.I1658 0.996 426 0% 387 31.3% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 SCN2A 6326 genome.wustl.edu 37 2 166210935 166210935 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001040142.1 +1 reviewed p.S1051 1.000 267 0% 226 28.3% 0 - - - - HMMPfam_Na_trans_assoc SCN9A 6335 genome.wustl.edu 37 2 167055543 167055543 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002977.3 -1 reviewed p.S1858Y 1.000 293 0% 272 23.5% 0 - possibly_damaging(0.449) deleterious(0) deleterious(0.592) NULL SCN7A 6332 genome.wustl.edu 37 2 167262963 167262963 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002976.2 -1 validated p.F1392L 0.718 453 0.2% 366 31.1% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels XIRP2 129446 genome.wustl.edu 37 2 168106318 168106318 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152381.4 +1 validated p.E2806* 0.001 385 0.3% 376 17.6% 0 - - - - NULL CERS6 253782 genome.wustl.edu 37 2 169571542 169571542 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_203463.1 +1 validated p.V214A 0.764 198 0.5% 258 26% 0 - benign(0) tolerated(1) - HMMPfam_TRAM_LAG1_CLN8,HMMSmart_TLC LRP2 4036 genome.wustl.edu 37 2 170011078 170011078 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004525.2 -1 reviewed p.R4063* 0.999 168 0% 153 35.3% 0 - - - - superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170029623 170029623 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004525.2 -1 reviewed p.S3709N 1.000 65 0% 55 23.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich GPR155 151556 genome.wustl.edu 37 2 175326385 175326385 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001033045.2 -1 validated p.S467Y 1.000 200 0% 272 29.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MIR10B 406903 genome.wustl.edu 37 2 177015070 177015070 + RNA SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000385011 +1 known NULL 1.000 10 0% 22 40.9% 0 - - - - - NFE2L2 4780 genome.wustl.edu 37 2 178098807 178098807 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006164.3 -1 validated p.T80P 1.000 113 0% 90 30% 39 41% benign(0.002) deleterious(0.01) neutral(0.406) NULL AGPS 8540 genome.wustl.edu 37 2 178310273 178310273 + Splice_Site SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003659.3 +1 reviewed e8-1 1.000 162 0% 141 33.3% 0 - - - - - PDE11A 50940 genome.wustl.edu 37 2 178545555 178545555 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016953.3 -1 reviewed p.R808* 1.000 113 0% 121 26.4% 0 - - - - HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like PDE11A 50940 genome.wustl.edu 37 2 178936394 178936394 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016953.3 -1 reviewed p.F257L 1.000 139 0% 136 33.8% 0 - benign(0.001) tolerated(1) - HMMPfam_GAF,HMMSmart_SM00065,superfamily_GAF domain-like OSBPL6 114880 genome.wustl.edu 37 2 179251821 179251821 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_145739.1 +1 reviewed p.S708L 1.000 109 0% 122 30.3% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Oxysterol_BP TTN 7273 genome.wustl.edu 37 2 179399240 179399240 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_133378.4 -1 reviewed p.S31466L 1.000 179 0% 163 34.4% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179403860 179403860 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_133378.4 -1 reviewed p.S30366L 0.980 90 0% 78 19.2% 1 100% - - - NULL TTN 7273 genome.wustl.edu 37 2 179417257 179417257 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000356127 -1 known p.E27554* 1.000 73 0% 73 38.4% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179418897 179418897 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000356127 -1 known p.K27077N 1.000 141 0% 155 27.7% 0 - possibly_damaging(0.495) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179421849 179421849 + Silent SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_133378.4 -1 reviewed p.S26776* 1.000 79 0% 91 30.8% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179453984 179453984 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000356127 -1 known p.R18253H 0.695 155 0% 161 24.8% 0 - possibly_damaging(0.737) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179534361 179534361 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000392423 -1 known p.R112C 0.427 531 0% 417 31.7% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL TTN 7273 genome.wustl.edu 37 2 179553441 179553441 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000356127 -1 known p.F9476 0.001 121 0% 100 31% 1 0% - - - NULL TTN 7273 genome.wustl.edu 37 2 179580422 179580422 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000356127 -1 known p.I7329 0.992 66 0% 60 38.3% 0 - - - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179588163 179588163 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000356127 -1 known p.T5978A 0.988 89 0% 75 26.7% 0 - unknown(0) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179592993 179592993 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000356127 -1 known p.E5276K 1.000 121 0% 105 41% 0 - unknown(0) - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set PDE1A 5136 genome.wustl.edu 37 2 183066436 183066436 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005019.3 -1 validated p.N344S 0.184 139 0% 115 32.2% 2 50% benign(0) tolerated(0.5) neutral(0.010) HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 ZNF804A 91752 genome.wustl.edu 37 2 185801719 185801719 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_194250.1 +1 provisional p.L532 0.000 372 0% 266 34.2% 0 - - - - NULL FSIP2 401024 genome.wustl.edu 37 2 186672106 186672106 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000424728 +1 known p.F6025V 0.998 336 0% 225 34.7% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL ZSWIM2 151112 genome.wustl.edu 37 2 187702137 187702137 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_182521.2 -1 validated p.N213 0.998 178 0% 150 30% 0 - - - - superfamily_SSF57850 TFPI 7035 genome.wustl.edu 37 2 188343499 188343499 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001032281.2 -1 reviewed p.K220 1.000 92 0% 69 15.9% 3 0% - - - NULL GULP1 51454 genome.wustl.edu 37 2 189406036 189406036 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016315.2 +1 validated p.S130 0.936 254 0% 183 21.9% 6 16.6% - - - HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like COL5A2 1290 genome.wustl.edu 37 2 189975078 189975078 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000393.3 -1 reviewed p.D65 1.000 131 0% 108 26.9% 2 0% - - - HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1 MYO1B 4430 genome.wustl.edu 37 2 192246241 192246241 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001130158.1 +1 validated p.Q413H 0.992 117 0% 95 22.1% 10 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases OBFC2A 64859 genome.wustl.edu 37 2 192550670 192550670 + RNA SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NR_024415.1 +1 validated NULL 0.009 23 0% 17 29.4% 9 55.5% - - - - SLC39A10 57181 genome.wustl.edu 37 2 196544802 196544802 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001127257.1 +1 validated p.I12 0.994 152 0% 152 27.6% 0 - - - - PatternScan_ZINC_FINGER_C2H2_1 HECW2 57520 genome.wustl.edu 37 2 197085627 197085627 + Silent SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020760.1 -1 provisional p.I1395 1.000 238 0% 254 29.1% 0 - - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HECW2 57520 genome.wustl.edu 37 2 197106879 197106879 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020760.1 -1 provisional p.F1193 1.000 167 0% 189 25.9% 0 - - - - NULL GTF3C3 9330 genome.wustl.edu 37 2 197629381 197629381 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_012086.2 -1 provisional p.R856Q 1.000 195 0% 152 38.8% 57 43.8% possibly_damaging(0.834) deleterious(0.04) deleterious(0.667) NULL PGAP1 80055 genome.wustl.edu 37 2 197784784 197784784 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024989.3 -1 validated p.I80L 0.928 237 0% 227 33.9% 0 - benign(0.009) tolerated(0.31) neutral(0.028) NULL PLCL1 5334 genome.wustl.edu 37 2 198948840 198948840 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006226.3 +1 validated p.S102Y 1.000 227 0.4% 215 33.5% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 ORC2 4999 genome.wustl.edu 37 2 201785859 201785859 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006190.3 -1 reviewed p.S384Y 1.000 38 0% 35 37.1% 11 45.4% probably_damaging(0.954) deleterious(0) deleterious(0.842) HMMPfam_ORC2 TRAK2 66008 genome.wustl.edu 37 2 202260102 202260102 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015049.2 -1 validated p.R279* 1.000 249 0% 230 32.6% 2 0% - - - HMMPfam_HAP1_N NOP58 51602 genome.wustl.edu 37 2 203167763 203167763 + Missense_Mutation SNP A A G rs34523815 byCluster;byFrequency TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015934.3 +1 provisional p.T508A 0.995 180 0% 179 29.1% 303 50.8% unknown(0) tolerated(0.53) - NULL PLEKHM3 389072 genome.wustl.edu 37 2 208866307 208866307 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001080475.2 -1 validated p.F19L 1.000 312 0% 359 30.4% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL CRYGA 1418 genome.wustl.edu 37 2 209028009 209028009 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014617.3 -1 validated p.F57 0.999 83 0% 52 40.4% 0 - - - - HMMPfam_Crystall,HMMSmart_SM00247,superfamily_gamma-Crystallin-like CCDC108 255101 genome.wustl.edu 37 2 219871227 219871227 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_194302.2 -1 provisional p.R1560I 0.007 13 0% 40 35% 3 66.6% benign(0.326) tolerated(0.2) neutral(0.151) NULL SPEG 10290 genome.wustl.edu 37 2 220344863 220344863 + Splice_Site SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005876.4 +1 validated e25+1 1.000 14 0% 46 39.1% 0 - - - - - IRS1 3667 genome.wustl.edu 37 2 227662102 227662102 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005544.2 -1 reviewed p.G451 1.000 24 0% 41 22% 4 0% - - - NULL COL4A3 1285 genome.wustl.edu 37 2 228175660 228175660 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000091.3 +1 reviewed p.F1642L 1.000 60 0% 55 25.5% 0 - unknown(0) deleterious(0.03) - HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like MFF 56947 genome.wustl.edu 37 2 228205062 228205062 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020194.4 +1 provisional p.R162C 1.000 74 1.4% 79 36.7% 131 46.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF800 SPHKAP 80309 genome.wustl.edu 37 2 228881964 228881964 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001142644.1 -1 validated p.I1202 0.025 68 1.5% 68 35.3% 0 - - - - NULL TRIP12 9320 genome.wustl.edu 37 2 230654350 230654350 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004238.1 -1 provisional p.R1483* 1.000 159 0% 175 30.3% 12 8.3% - - - NULL SP110 3431 genome.wustl.edu 37 2 231077552 231077552 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_080424.2 -1 reviewed p.I169 0.026 229 0% 294 33% 9 66.6% - - - NULL SP140 11262 genome.wustl.edu 37 2 231176181 231176181 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007237.4 +1 validated p.C792 0.002 136 0% 195 19% 1 0% - - - HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain DIS3L2 129563 genome.wustl.edu 37 2 233028296 233028296 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152383.4 +1 validated p.P360S 1.000 90 0% 96 36.5% 10 50% possibly_damaging(0.452) tolerated(0.08) neutral(0.448) NULL UGT1A8 54576 genome.wustl.edu 37 2 234526397 234526397 + Missense_Mutation SNP C C T rs1126783 byCluster TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_019076.4 +1 reviewed p.S15F 0.696 255 0% 218 30.3% 0 - benign(0) tolerated(0.75) neutral(0.002) NULL SH3BP4 23677 genome.wustl.edu 37 2 235951000 235951000 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014521.2 +1 reviewed p.F529 0.370 34 0% 75 28% 10 50% - - - NULL COL6A3 1293 genome.wustl.edu 37 2 238253710 238253710 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004369.3 -1 reviewed p.D2385Y 1.000 101 0% 153 32% 7 0% probably_damaging(1) - - NULL RBM44 375316 genome.wustl.edu 37 2 238726726 238726726 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001080504.2 +1 validated p.S389 0.000 148 0% 127 29.1% 0 - - - - NULL RBM44 375316 genome.wustl.edu 37 2 238738022 238738022 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001080504.2 +1 validated p.S922 0.000 330 0% 266 34.6% 0 - - - - NULL CRBN 51185 genome.wustl.edu 37 3 3196451 3196451 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016302.3 -1 reviewed p.S272Y 1.000 102 0% 99 28.3% 13 61.5% possibly_damaging(0.885) tolerated(0.09) deleterious(0.642) HMMPfam_LON,HMMSmart_SM00464 ITPR1 3708 genome.wustl.edu 37 3 4699915 4699915 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001099952.2 +1 reviewed p.F368 1.000 112 0% 129 31.8% 2 100% - - - HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472 ITPR1 3708 genome.wustl.edu 37 3 4714883 4714883 + Silent SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001099952.2 +1 reviewed p.I756 0.633 70 0% 78 11.5% 1 0% - - - NULL ITPR1 3708 genome.wustl.edu 37 3 4741562 4741562 + Silent SNP C C T rs192863290 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001099952.2 +1 reviewed p.I1482 0.010 146 0% 181 28.7% 1 100% - - - NULL RAD18 56852 genome.wustl.edu 37 3 8990234 8990234 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020165.3 -1 reviewed p.K52Q 1.000 309 0% 356 33.4% 3 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box ATP2B2 491 genome.wustl.edu 37 3 10401651 10401651 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001001331.2 -1 reviewed p.R606C 1.000 71 0% 128 39.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M SLC6A1 6529 genome.wustl.edu 37 3 11061919 11061919 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003042.3 +1 validated p.C164 1.000 19 0% 26 19.2% 0 - - - - HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_2 TAMM41 132001 genome.wustl.edu 37 3 11885501 11885501 + Splice_Site SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_138807.2 -1 provisional e2+2 1.000 59 0% 78 25.6% 1 100% - - - - METTL6 131965 genome.wustl.edu 37 3 15466516 15466516 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152396.2 -1 validated p.P102 0.819 195 0% 281 31.7% 12 75% - - - HMMPfam_Methyltransf_12,superfamily_S-adenosyl-L-methionine-dependent methyltransferases ANKRD28 23243 genome.wustl.edu 37 3 15726829 15726829 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015199.2 -1 provisional p.L735I 1.000 267 0% 225 37.3% 6 66.6% probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat OXNAD1 92106 genome.wustl.edu 37 3 16336462 16336462 + Silent SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_138381.2 +1 validated p.V130 1.000 243 0% 207 30.4% 15 33.3% - - - superfamily_Riboflavin_synthase_like_b-brl EFHB 151651 genome.wustl.edu 37 3 19947191 19947191 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_144715.3 -1 validated p.V447L 0.031 129 0% 146 30.1% 1 100% benign(0) tolerated(0.5) neutral(0.010) NULL RARB 5915 genome.wustl.edu 37 3 25470331 25470331 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000965.3 +1 reviewed p.F37V 1.000 141 0% 161 31.7% 2 50% benign(0) tolerated(0.28) neutral(0.032) NULL RARB 5915 genome.wustl.edu 37 3 25638038 25638038 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000965.3 +1 reviewed p.E426 1.000 142 0% 178 27.5% 14 21.4% - - - NULL EOMES 8320 genome.wustl.edu 37 3 27761750 27761750 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005442.2 -1 reviewed p.F316 1.000 151 0% 226 20.4% 0 - - - - HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd ZCWPW2 152098 genome.wustl.edu 37 3 28454759 28454759 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001040432.1 +1 provisional p.R67I 0.530 414 0% 305 29.8% 0 - possibly_damaging(0.462) deleterious(0.05) deleterious(0.497) HMMPfam_zf-CW ACVR2B 93 genome.wustl.edu 37 3 38518941 38518941 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001106.3 +1 reviewed p.L72 0.955 29 0% 32 28.1% 0 - - - - HMMPfam_Activin_recp,superfamily_Snake toxin-like SCN5A 6331 genome.wustl.edu 37 3 38671912 38671912 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001099404.1 -1 reviewed p.I94 1.000 17 0% 57 38.6% 0 - - - - NULL SCN10A 6336 genome.wustl.edu 37 3 38739271 38739271 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006514.2 -1 validated p.E1814* 1.000 223 0% 253 32.4% 0 - - - - NULL SCN10A 6336 genome.wustl.edu 37 3 38753831 38753831 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006514.2 -1 validated p.A1304T 0.995 90 0% 113 31.9% 0 - possibly_damaging(0.911) deleterious(0) deleterious(0.807) HMMPfam_Ion_trans,superfamily_SSF81324 SCN10A 6336 genome.wustl.edu 37 3 38781128 38781128 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006514.2 -1 validated p.D720N 0.983 85 0% 108 32.4% 0 - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) HMMPfam_Ion_trans,superfamily_SSF81324 ULK4 54986 genome.wustl.edu 37 3 41607546 41607546 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017886.2 -1 validated p.D1066Y 1.000 117 0% 156 32.7% 3 0% possibly_damaging(0.918) deleterious(0.01) deleterious(0.774) superfamily_ARM-type_fold SEC22C 9117 genome.wustl.edu 37 3 42610411 42610411 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032970.2 -1 reviewed p.R43Q 0.000 73 0% 79 30.4% 12 50% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) superfamily_SNARE-like ZNF167 55888 genome.wustl.edu 37 3 44612650 44612650 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018651.2 +1 validated p.R683K 1.000 204 0.5% 188 28.2% 4 75% probably_damaging(0.983) tolerated(0.14) deleterious(0.678) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF197 10168 genome.wustl.edu 37 3 44684153 44684153 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006991.3 +1 reviewed p.K511E 0.998 204 0% 179 30.7% 0 - probably_damaging(0.977) tolerated(0.61) neutral(0.423) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers FYCO1 79443 genome.wustl.edu 37 3 46026399 46026399 + Missense_Mutation SNP C C G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024513.2 -1 validated p.A2P 1.000 55 0% 81 11.1% 1 0% probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL KIF9 64147 genome.wustl.edu 37 3 47316956 47316956 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001134878.1 -1 validated p.D40Y 0.980 77 0% 137 39.4% 116 49.1% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases BSN 8927 genome.wustl.edu 37 3 49662470 49662470 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003458.3 +1 reviewed p.P96L 0.267 37 0% 66 30.3% 0 - possibly_damaging(0.794) - - NULL CACNA2D2 9254 genome.wustl.edu 37 3 50471834 50471834 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001005505.1 -1 reviewed p.F105 1.000 16 0% 37 32.4% 0 - - - - NULL DOCK3 1795 genome.wustl.edu 37 3 51315127 51315127 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004947.3 +1 validated p.S922L 1.000 35 0% 50 32% 0 - benign(0.001) tolerated(0.08) neutral(0.300) NULL WDR82 80335 genome.wustl.edu 37 3 52294458 52294458 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_025222.3 -1 validated p.F162 1.000 60 0% 67 37.3% 18 55.5% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like DNAH1 25981 genome.wustl.edu 37 3 52380551 52380551 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015512.4 +1 validated p.R574C 0.287 15 0% 45 24.4% 0 - probably_damaging(0.991) tolerated(0.05) deleterious(0.789) NULL DNAH1 25981 genome.wustl.edu 37 3 52380743 52380743 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015512.4 +1 validated p.D638N 0.125 14 0% 50 40% 0 - benign(0) tolerated(0.46) neutral(0.012) NULL NEK4 6787 genome.wustl.edu 37 3 52775500 52775500 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003157.3 -1 validated p.H674N 0.000 83 0% 132 30.3% 8 37.5% possibly_damaging(0.44) deleterious(0) deleterious(0.588) NULL NEK4 6787 genome.wustl.edu 37 3 52786220 52786220 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003157.3 -1 validated p.N366H 0.977 415 0% 775 29.8% 6 16.6% possibly_damaging(0.801) deleterious(0) deleterious(0.746) NULL NEK4 6787 genome.wustl.edu 37 3 52802595 52802595 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003157.3 -1 validated p.R40Q 0.000 128 0% 187 40.6% 4 50% benign(0.054) tolerated(0.44) neutral(0.016) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ITIH1 3697 genome.wustl.edu 37 3 52817056 52817056 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002215.2 +1 reviewed p.Q338H 0.000 26 0% 43 30.2% 0 - benign(0.002) tolerated(0.05) neutral(0.345) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like CACNA1D 776 genome.wustl.edu 37 3 53806909 53806909 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000720.2 +1 validated p.A1385V 1.000 47 0% 86 32.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ion_trans,superfamily_SSF81324 ERC2 26059 genome.wustl.edu 37 3 56468670 56468670 + Silent SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015576.1 -1 validated p.G122 0.836 447 0% 519 68.4% 0 - - - - NULL FHIT 2272 genome.wustl.edu 37 3 60522626 60522626 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002012.2 -1 reviewed p.A24T 0.998 117 0% 97 19.6% 4 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_HIT,superfamily_HIT-like PTPRG 5793 genome.wustl.edu 37 3 61975327 61975327 + Silent SNP G G A rs187568366 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002841.3 +1 reviewed p.T73 0.001 126 0% 137 29.9% 0 - - - - HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase PTPRG 5793 genome.wustl.edu 37 3 62216942 62216942 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002841.3 +1 reviewed p.R778C 1.000 85 0% 56 32.1% 0 - benign(0.071) deleterious(0) neutral(0.450) NULL PSMD6 9861 genome.wustl.edu 37 3 64008066 64008066 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014814.1 -1 provisional p.K93N 1.000 197 0% 257 31.5% 108 47.2% benign(0.104) deleterious(0.01) neutral(0.414) HMMPfam_RPN7 EPHA3 2042 genome.wustl.edu 37 3 89499420 89499420 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005233.5 +1 reviewed p.D864Y 1.000 114 0% 124 15.3% 0 - probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) PROS1 5627 genome.wustl.edu 37 3 93605283 93605283 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000313.3 -1 reviewed p.I407T 1.000 444 0% 443 30.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_1 ARL6 84100 genome.wustl.edu 37 3 97506959 97506959 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032146.3 +1 reviewed p.I159L 1.000 121 0% 93 16.1% 3 0% possibly_damaging(0.753) deleterious(0.03) deleterious(0.641) HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases OR5H15 403274 genome.wustl.edu 37 3 97887735 97887735 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001005515.1 +1 provisional p.G64 0.000 603 0% 559 28.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5K4 403278 genome.wustl.edu 37 3 98073417 98073417 + Silent SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001005517.1 +1 provisional p.T240 0.015 658 0% 556 29.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 GPR128 84873 genome.wustl.edu 37 3 100364864 100364864 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032787.2 +1 validated p.S341L 0.010 47 0% 62 32.3% 0 - benign(0.104) tolerated(0.1) neutral(0.294) NULL MYH15 22989 genome.wustl.edu 37 3 108172884 108172884 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014981.1 -1 validated p.R810* 0.000 138 0% 106 41.5% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases GUCA1C 9626 genome.wustl.edu 37 3 108672498 108672498 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005459.3 -1 validated p.H38N 1.000 172 0% 186 32.8% 0 - possibly_damaging(0.943) deleterious(0.02) deleterious(0.770) superfamily_EF-hand SLC9A10 285335 genome.wustl.edu 37 3 111936384 111936384 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_183061.1 -1 validated p.K565N 0.893 165 0% 157 30.6% 0 - probably_damaging(0.991) tolerated(0.09) deleterious(0.740) superfamily_Voltage-gated potassium channels CD200 4345 genome.wustl.edu 37 3 112066432 112066432 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001004196.2 +1 reviewed p.K175T 0.021 296 0.3% 245 32.2% 4 50% benign(0.086) tolerated(0.24) neutral(0.044) superfamily_SSF48726 CCDC80 151887 genome.wustl.edu 37 3 112357078 112357078 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_199511.1 -1 validated p.A559T 0.312 166 0% 185 29.7% 12 0% benign(0.007) tolerated(0.34) neutral(0.023) NULL TIGIT 201633 genome.wustl.edu 37 3 114014412 114014412 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_173799.3 +1 validated p.E28K 0.000 280 0% 358 27.4% 0 - benign(0.001) tolerated(0.19) neutral(0.050) HMMPfam_V-set,superfamily_Immunoglobulin LSAMP 4045 genome.wustl.edu 37 3 115805269 115805269 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002338.3 -1 reviewed p.R97Q 1.000 94 0% 68 26.5% 1 0% possibly_damaging(0.458) tolerated(0.41) neutral(0.165) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 TIMMDC1 51300 genome.wustl.edu 37 3 119222415 119222415 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016589.3 +1 validated p.R133C 1.000 30 0% 31 29% 82 52.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL POLQ 10721 genome.wustl.edu 37 3 121248606 121248606 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_199420.3 -1 validated p.E332* 1.000 62 0% 111 14.4% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases CCDC58 131076 genome.wustl.edu 37 3 122087074 122087074 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000479414 -1 known p.E88* 1.000 165 0% 162 27.2% 59 40.6% probably_damaging(0.991) tolerated(0.24) deleterious(0.481) HMMPfam_Cid2 PARP14 54625 genome.wustl.edu 37 3 122432362 122432362 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017554.2 +1 validated p.T1237 0.982 184 0% 168 33.3% 3 33.3% - - - HMMSmart_SM00506,superfamily_Macro domain-like ADCY5 111 genome.wustl.edu 37 3 123036912 123036912 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_183357.1 -1 validated p.L770P 0.999 16 0% 57 24.6% 2 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL MYLK 4638 genome.wustl.edu 37 3 123339180 123339180 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_053025.3 -1 reviewed p.T1748A 1.000 161 0% 235 27.7% 18 22.2% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL ZNF148 7707 genome.wustl.edu 37 3 124952765 124952765 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_021964.2 -1 validated p.R269C 1.000 198 0% 193 33.2% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 TXNRD3NB 645840 genome.wustl.edu 37 3 126291080 126291080 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001039783.1 -1 provisional p.E103* 0.008 29 0% 49 36.7% 0 - - - - NULL PLXND1 23129 genome.wustl.edu 37 3 129286396 129286396 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015103.2 -1 validated p.R1342H 1.000 13 0% 31 35.5% 34 44.1% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL NEK11 79858 genome.wustl.edu 37 3 130884308 130884308 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024800.4 +1 reviewed p.R374Q 0.538 88 0% 89 39.3% 8 62.5% probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL STAG1 10274 genome.wustl.edu 37 3 136076581 136076581 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005862.2 -1 reviewed p.R1016* 1.000 114 0% 139 30.9% 13 7.6% - - - NULL CLDN18 51208 genome.wustl.edu 37 3 137743490 137743490 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001002026.2 +1 validated p.L143M 1.000 138 0% 178 13.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PMP22_Claudin ESYT3 83850 genome.wustl.edu 37 3 138188301 138188301 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000383175 +1 known p.F488V 1.000 38 0% 75 41.3% 0 - benign(0) deleterious(0.03) neutral(0.364) NULL COPB2 9276 genome.wustl.edu 37 3 139076716 139076716 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004766.2 -1 validated p.L904V 1.000 66 0% 105 39% 360 46.3% benign(0.021) tolerated(0.07) neutral(0.320) NULL COPB2 9276 genome.wustl.edu 37 3 139085939 139085939 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004766.2 -1 validated p.D532N 1.000 196 0% 174 25.3% 87 48.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Coatomer_WDAD,superfamily_Amine_DH_B_like RBP2 5948 genome.wustl.edu 37 3 139173580 139173580 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004164.2 -1 reviewed p.K115 0.976 122 0% 157 32.5% 0 - - - - HMMPfam_Lipocalin,superfamily_Lipocalins CLSTN2 64084 genome.wustl.edu 37 3 140123571 140123571 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_022131.2 +1 validated p.I200 0.817 139 0% 199 26.1% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like TRIM42 287015 genome.wustl.edu 37 3 140397089 140397089 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152616.3 +1 reviewed p.C6 0.516 356 0% 440 30% 1 100% - - - NULL ZBTB38 253461 genome.wustl.edu 37 3 141161981 141161981 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001080412.2 +1 validated p.E251* 0.865 142 0% 172 33.1% 0 - - - - NULL RASA2 5922 genome.wustl.edu 37 3 141304903 141304903 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006506.2 +1 reviewed p.S597A 1.000 42 0% 62 33.9% 3 100% benign(0.045) tolerated(0.35) neutral(0.023) HMMSmart_RasGAP,superfamily_Rho_GAP XRN1 54464 genome.wustl.edu 37 3 142030361 142030361 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_019001.3 -1 validated p.S1705A 1.000 226 0% 178 34.8% 1 100% benign(0.086) tolerated(0.39) neutral(0.022) NULL IGSF10 285313 genome.wustl.edu 37 3 151155402 151155402 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_178822.4 -1 validated p.R2316Q 0.999 235 0% 239 20.5% 0 - probably_damaging(0.996) tolerated(0.08) deleterious(0.762) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin IGSF10 285313 genome.wustl.edu 37 3 151155468 151155468 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_178822.4 -1 validated p.K2294T 0.000 207 0% 190 33.7% 0 - benign(0.282) tolerated(0.21) neutral(0.131) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin LEKR1 389170 genome.wustl.edu 37 3 156746030 156746030 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001004316.2 +1 validated p.L199V 0.000 95 0% 80 10% 0 - benign(0.218) tolerated(0.3) neutral(0.050) NULL C3orf55 152078 genome.wustl.edu 37 3 157289762 157289762 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001130002.1 +1 validated p.D78N 0.000 15 0% 13 53.8% 0 - possibly_damaging(0.923) deleterious(0.01) deleterious(0.778) NULL RSRC1 51319 genome.wustl.edu 37 3 157840003 157840003 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016625.2 +1 provisional p.R37Q 1.000 150 0% 169 26% 6 83.3% unknown(0) deleterious(0.02) - NULL GFM1 85476 genome.wustl.edu 37 3 158399904 158399904 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024996.5 +1 reviewed p.F574 0.117 37 0% 49 32.7% 15 53.3% - - - HMMPfam_EFG_IV,superfamily_Ribosomal_S5_D2-typ_fold TRIM59 286827 genome.wustl.edu 37 3 160156820 160156820 + Missense_Mutation SNP C C T rs139273294 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_173084.2 -1 validated p.R51Q 1.000 163 0% 181 30.9% 0 - possibly_damaging(0.451) tolerated(0.25) neutral(0.184) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box SPTSSB 165679 genome.wustl.edu 37 3 161063940 161063940 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001040100.1 -1 validated p.R58C 1.000 76 0% 72 26.4% 1 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL SLITRK3 22865 genome.wustl.edu 37 3 164906868 164906868 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014926.2 -1 validated p.S584I 0.995 113 0% 132 40.9% 0 - benign(0) tolerated(0.39) neutral(0.016) HMMSmart_LRRCT,superfamily_SSF52058 BCHE 590 genome.wustl.edu 37 3 165547596 165547596 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000055.2 -1 reviewed p.R409I 0.915 227 0% 190 34.7% 0 - benign(0.031) deleterious(0.01) neutral(0.407) HMMPfam_COesterase,superfamily_SSF53474 MYNN 55892 genome.wustl.edu 37 3 169496751 169496751 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018657.3 +1 provisional p.E154D 0.999 74 0% 76 39.5% 5 0% possibly_damaging(0.643) tolerated(0.35) neutral(0.246) NULL PLD1 5337 genome.wustl.edu 37 3 171455341 171455341 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002662.3 -1 validated p.R90H 1.000 110 0% 117 27.4% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain PIK3CA 5290 genome.wustl.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A rs121913287 TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006218.2 +1 reviewed p.R88Q 1.000 171 0% 192 25.5% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B PIK3CA 5290 genome.wustl.edu 37 3 178917478 178917478 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006218.2 +1 reviewed p.G118D 1.000 138 0% 132 37.1% 2 0% probably_damaging(0.976) deleterious(0.04) deleterious(0.767) superfamily_SSF54236 ATP11B 23200 genome.wustl.edu 37 3 182554199 182554199 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014616.1 +1 validated p.R165* 0.676 429 0% 355 32.7% 0 - - - - HMMPfam_E1-E2_ATPase,superfamily_SSF81653 MCF2L2 23101 genome.wustl.edu 37 3 183056613 183056613 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015078.2 -1 validated p.R154Q 0.999 107 0% 113 23.9% 0 - possibly_damaging(0.458) tolerated(0.5) neutral(0.160) HMMSmart_SM00516 KLHL6 89857 genome.wustl.edu 37 3 183226156 183226156 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_130446.2 -1 validated p.N200 1.000 122 0% 164 28.7% 0 - - - - HMMPfam_BACK PARL 55486 genome.wustl.edu 37 3 183562032 183562032 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000417784 -1 known p.E11K 0.982 108 0% 161 36% 103 48.5% - - - HMMPfam_Rhomboid HTR3E 285242 genome.wustl.edu 37 3 183821994 183821994 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_182589.2 +1 reviewed p.W117G 0.997 34 0% 63 36.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD ECE2 9718 genome.wustl.edu 37 3 184003377 184003377 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014693.3 +1 validated p.K538N 1.000 35 0% 58 36.2% 0 - probably_damaging(0.999) tolerated(0.15) deleterious(0.732) "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" VPS8 23355 genome.wustl.edu 37 3 184612549 184612549 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001009921.2 +1 validated p.V614L 1.000 30 0% 21 38.1% 1 100% benign(0.104) tolerated(0.57) neutral(0.014) NULL MASP1 5648 genome.wustl.edu 37 3 187003681 187003681 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_139125.3 -1 reviewed p.R57W 1.000 187 0% 242 29.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB ATP13A5 344905 genome.wustl.edu 37 3 193048981 193048981 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_198505.2 -1 provisional p.K464N 0.623 98 0% 108 34.3% 1 0% benign(0.01) tolerated(0.48) neutral(0.011) HMMPfam_E1-E2_ATPase,superfamily_SSF81665 TMEM44 93109 genome.wustl.edu 37 3 194336413 194336413 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_138399.4 -1 validated p.S266L 1.000 107 0% 195 32.3% 5 20% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL MUC20 200958 genome.wustl.edu 37 3 195451792 195451792 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152673.2 +1 reviewed p.I106 0.000 79 0% 193 19.2% 11 27.2% - - - NULL ZNF141 7700 genome.wustl.edu 37 4 366775 366775 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000240499 +1 known p.F183L 0.001 301 0.3% 319 31.3% 0 - possibly_damaging(0.792) tolerated(0.65) neutral(0.300) HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF721 170960 genome.wustl.edu 37 4 435686 435686 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_133474.2 -1 validated p.R857I 0.917 175 0% 208 38% 5 40% benign(0.025) tolerated(0.18) neutral(0.057) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CPEB2 132864 genome.wustl.edu 37 4 15054149 15054149 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_182485.2 +1 reviewed p.R326Q 1.000 159 0% 110 40% 0 - possibly_damaging(0.933) deleterious(0) deleterious(0.824) superfamily_RNA-binding domain RBD GBA3 57733 genome.wustl.edu 37 4 22749586 22749586 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020973.3 +1 validated p.E318D 0.170 80 0% 56 25% 0 - benign(0) tolerated(0.93) - HMMPfam_Glyco_hydro_1,superfamily_(Trans)glycosidases SEL1L3 23231 genome.wustl.edu 37 4 25823689 25823689 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015187.3 -1 validated p.Y407H 1.000 59 0% 76 31.6% 23 39.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TBC1D19 55296 genome.wustl.edu 37 4 26638903 26638903 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018317.2 +1 validated p.R122Q 1.000 142 0% 151 27.8% 1 100% benign(0.156) tolerated(0.58) neutral(0.019) NULL STIM2 57620 genome.wustl.edu 37 4 27019558 27019558 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020860.3 +1 reviewed p.R659Q 1.000 485 0% 423 31.2% 6 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KLHL5 51088 genome.wustl.edu 37 4 39083717 39083717 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015990.4 +1 validated p.R326C 1.000 248 0.4% 210 31.9% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BACK NSUN7 79730 genome.wustl.edu 37 4 40796409 40796409 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024677.4 +1 validated p.D400Y 1.000 110 0% 146 29.5% 3 33.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_S-adenosyl-L-methionine-dependent methyltransferases GRXCR1 389207 genome.wustl.edu 37 4 42895338 42895338 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001080476.1 +1 provisional p.R19W 1.000 188 0% 141 27.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL YIPF7 285525 genome.wustl.edu 37 4 44638011 44638011 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_182592.2 -1 validated p.A94T 0.997 126 0.8% 125 13.6% 0 - benign(0) tolerated(1) - NULL GNPDA2 132789 genome.wustl.edu 37 4 44709820 44709820 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_138335.1 -1 provisional p.D240N 1.000 118 0% 82 24.4% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glucosamine_iso,superfamily_NagB/RpiA/CoA transferase-like GNPDA2 132789 genome.wustl.edu 37 4 44719247 44719247 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_138335.1 -1 provisional p.D98N 1.000 113 0% 90 35.6% 2 50% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Glucosamine_iso,superfamily_NagB/RpiA/CoA transferase-like NIPAL1 152519 genome.wustl.edu 37 4 48037665 48037665 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_207330.1 +1 provisional p.L237 0.993 187 0% 186 12.4% 0 - - - - HMMPfam_DUF803 DCUN1D4 23142 genome.wustl.edu 37 4 52779734 52779734 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001040402.1 +1 validated p.D288G 1.000 151 0% 130 30% 6 33.3% benign(0) tolerated(0.3) neutral(0.029) NULL LRRC66 339977 genome.wustl.edu 37 4 52861244 52861244 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001024611.1 -1 provisional p.A648 0.000 187 0% 215 37.2% 0 - - - - NULL FIP1L1 81608 genome.wustl.edu 37 4 54256766 54256766 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_030917.3 +1 reviewed p.S159Y 1.000 188 0% 179 29.6% 11 36.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Fip1 LOC441016 441016 genome.wustl.edu 37 4 54441787 54441787 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_496693.4 +1 model p.A19T 0.093 18 0% 26 34.6% 0 - - - - NULL PDCL2 132954 genome.wustl.edu 37 4 56435901 56435901 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152401.2 -1 reviewed p.H116N 1.000 24 0% 27 25.9% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Phosducin,superfamily_Thiordxn-like_fd STAP1 26228 genome.wustl.edu 37 4 68472019 68472019 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_012108.2 +1 reviewed p.E278* 0.995 79 0% 66 31.8% 1 0% - - - NULL SULT1E1 6783 genome.wustl.edu 37 4 70707804 70707804 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005420.2 -1 reviewed p.N265H 1.000 150 0% 160 10.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases SULT1E1 6783 genome.wustl.edu 37 4 70721060 70721060 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005420.2 -1 reviewed p.R77Q 0.116 60 0% 68 42.6% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases MUC7 4589 genome.wustl.edu 37 4 71347160 71347160 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001145006.1 +1 reviewed p.E233 0.000 447 0% 334 16.8% 0 - - - - NULL ENAM 10117 genome.wustl.edu 37 4 71508475 71508475 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_031889.2 +1 reviewed p.K444N 0.982 379 0% 393 32.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MOB1B 92597 genome.wustl.edu 37 4 71841002 71841002 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_173468.2 +1 reviewed p.I136M 0.998 152 0% 148 27% 0 - benign(0.062) tolerated(0.05) neutral(0.349) HMMPfam_Mob1_phocein,superfamily_Mob1/phocein ADAMTS3 9508 genome.wustl.edu 37 4 73161399 73161399 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014243.1 -1 reviewed p.C899R 1.000 280 0% 226 32.3% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ANKRD17 26057 genome.wustl.edu 37 4 74043215 74043215 + Missense_Mutation SNP T T A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032217.3 -1 reviewed p.E143D 1.000 296 0% 283 28.6% 1 0% benign(0.055) tolerated(1) neutral(0.004) NULL RASSF6 166824 genome.wustl.edu 37 4 74450942 74450942 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_201431.1 -1 validated p.R206 0.003 269 0% 235 31.9% 0 - - - - NULL CXCL1 2919 genome.wustl.edu 37 4 74735502 74735502 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001511.2 +1 validated p.E73K 0.987 75 0% 84 27.4% 140 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8,PatternScan_SMALL_CYTOKINES_CXC FRAS1 80144 genome.wustl.edu 37 4 79321919 79321919 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_025074.6 +1 reviewed p.S1335L 0.998 79 0% 67 37.3% 0 - benign(0.273) tolerated(0.13) neutral(0.282) NULL GK2 2712 genome.wustl.edu 37 4 80327753 80327753 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_033214.2 -1 validated p.F534L 0.994 322 0% 292 12.3% 0 - benign(0) tolerated(1) - NULL BMP3 651 genome.wustl.edu 37 4 81967605 81967605 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001201.2 +1 reviewed p.R344W 0.989 186 0% 127 25.2% 0 - benign(0.064) tolerated(0.19) neutral(0.054) NULL PRKG2 5593 genome.wustl.edu 37 4 82090832 82090832 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006259.1 -1 provisional p.R278K 1.000 169 0.6% 141 27.7% 0 - benign(0.002) tolerated(0.17) neutral(0.059) HMMSmart_cNMP,superfamily_cNMP_binding LOC100287465 100287465 genome.wustl.edu 37 4 83411218 83411218 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_002342457.1 +1 model p.D40N 1.000 203 0% 235 31.9% 2 0% - - - NULL SEC31A 22872 genome.wustl.edu 37 4 83770112 83770112 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001077207.1 -1 reviewed p.R783C 1.000 115 0% 123 35% 42 35.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HELQ 113510 genome.wustl.edu 37 4 84369965 84369965 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_133636.2 -1 validated p.L388I 1.000 128 0% 123 23.6% 0 - probably_damaging(0.994) tolerated(0.06) deleterious(0.774) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases WDFY3 23001 genome.wustl.edu 37 4 85731226 85731226 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014991.4 -1 reviewed p.R720Q 0.996 326 0% 214 28% 1 0% probably_damaging(0.985) tolerated(0.1) deleterious(0.718) superfamily_ARM repeat SLC10A6 345274 genome.wustl.edu 37 4 87754546 87754546 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_197965.2 -1 validated p.A137T 0.997 177 0% 206 33% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SBF ABCG2 9429 genome.wustl.edu 37 4 89036122 89036122 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004827.2 -1 reviewed p.E310 0.000 47 0% 74 28.4% 1 0% - - - NULL MMRN1 22915 genome.wustl.edu 37 4 90816586 90816586 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007351.2 +1 reviewed p.S155F 0.009 151 0% 124 33.1% 1 0% possibly_damaging(0.906) deleterious(0) deleterious(0.804) NULL TSPAN5 10098 genome.wustl.edu 37 4 99408005 99408005 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005723.3 -1 reviewed p.D55N 1.000 192 0% 300 36.7% 0 - benign(0.104) tolerated(0.25) neutral(0.045) HMMPfam_Tetraspannin ADH1A 124 genome.wustl.edu 37 4 100205733 100205733 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000667.2 -1 reviewed p.R130 0.893 116 0% 110 38.2% 0 - - - - superfamily_GroES-like,HMMPfam_ADH_N BANK1 55024 genome.wustl.edu 37 4 102981537 102981537 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017935.4 +1 reviewed p.M713I 0.727 194 0% 141 27% 1 0% benign(0.002) tolerated(0.1) neutral(0.286) NULL CENPE 1062 genome.wustl.edu 37 4 104074301 104074301 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001813.2 -1 validated p.S1047Y 0.476 128 0% 89 27% 1 100% possibly_damaging(0.951) tolerated(0.06) deleterious(0.717) NULL ELOVL6 79071 genome.wustl.edu 37 4 110980893 110980893 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001130721.1 -1 validated p.R80Q 1.000 115 0.9% 161 31.1% 6 66.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_ELO ENPEP 2028 genome.wustl.edu 37 4 111430901 111430901 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001977.3 +1 validated p.E378K 0.988 204 0% 185 31.4% 0 - probably_damaging(0.988) tolerated(0.17) deleterious(0.496) "HMMPfam_Peptidase_M1,superfamily_Metalloproteases (""zincins"") catalytic domain" ALPK1 80216 genome.wustl.edu 37 4 113348783 113348783 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001102406.1 +1 validated p.D253N 1.000 90 0% 111 28.8% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ANK2 287 genome.wustl.edu 37 4 114264208 114264208 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000514960 +1 known p.R399W 1.000 254 0.4% 221 27.6% 1 0% - - - NULL UGT8 7368 genome.wustl.edu 37 4 115544698 115544698 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001128174.1 +1 validated p.K221T 1.000 149 0% 119 14.3% 0 - possibly_damaging(0.644) deleterious(0) deleterious(0.670) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase NDST3 9348 genome.wustl.edu 37 4 118975453 118975453 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004784.2 +1 reviewed p.L130I 1.000 213 0.5% 178 30.3% 0 - benign(0.224) tolerated(0.27) neutral(0.056) NULL SYNPO2 171024 genome.wustl.edu 37 4 119947885 119947885 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_133477.2 +1 validated p.R121* 0.118 115 0% 113 38.9% 0 - - - - NULL C4orf3 401152 genome.wustl.edu 37 4 120221530 120221530 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000399075 -1 known p.F187S 0.624 209 0% 199 30.7% 308 41.5% unknown(0) deleterious(0.02) - NULL TRPC3 7222 genome.wustl.edu 37 4 122833213 122833213 + Silent SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001130698.1 -1 validated p.F459 0.994 88 0% 79 13.9% 0 - - - - NULL TRPC3 7222 genome.wustl.edu 37 4 122853674 122853674 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001130698.1 -1 validated p.E247K 1.000 47 0% 78 25.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK KIAA1109 84162 genome.wustl.edu 37 4 123164181 123164181 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015312.3 +1 reviewed p.S1567Y 1.000 229 0% 179 11.2% 0 - benign(0.148) deleterious(0.04) neutral(0.362) NULL BBS12 166379 genome.wustl.edu 37 4 123663963 123663963 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152618.2 +1 reviewed p.K306Q 0.000 80 0% 120 27.5% 1 100% benign(0.006) tolerated(0.58) neutral(0.005) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like FAT4 79633 genome.wustl.edu 37 4 126369696 126369696 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024582.4 +1 validated p.N2509H 0.175 124 0% 90 41.1% 0 - benign(0.101) tolerated(0.07) neutral(0.327) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126411420 126411420 + Silent SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024582.4 +1 validated p.A4481 0.167 176 0% 180 27.2% 0 - - - - NULL PLK4 10733 genome.wustl.edu 37 4 128806961 128806961 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014264.3 +1 reviewed p.R146C 0.151 196 0% 205 27.8% 6 66.6% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase LARP1B 55132 genome.wustl.edu 37 4 129019373 129019373 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018078.2 +1 reviewed p.R234Q 0.998 75 0% 102 34.3% 3 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) "HMMPfam_La,HMMSmart_SM00715,superfamily_""Winged helix"" DNA-binding domain" PCDH18 54510 genome.wustl.edu 37 4 138450798 138450798 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_019035.3 -1 reviewed p.E815D 1.000 93 0% 85 30.6% 0 - probably_damaging(0.996) tolerated(0.4) deleterious(0.478) NULL ELMOD2 255520 genome.wustl.edu 37 4 141461345 141461345 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_153702.2 +1 validated p.T141 0.057 159 0% 180 18.3% 18 5.5% - - - HMMPfam_ELMO_CED12 SMARCA5 8467 genome.wustl.edu 37 4 144468561 144468561 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003601.2 +1 reviewed p.E893K 1.000 351 0% 215 36.7% 117 52.9% probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_Homeodomain_like,superfamily_SSF52540 MAB21L2 10586 genome.wustl.edu 37 4 151504540 151504540 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006439.4 +1 reviewed p.S120L 1.000 83 0% 122 28.7% 0 - probably_damaging(0.958) deleterious(0) deleterious(0.846) HMMPfam_Mab-21 PET112 5188 genome.wustl.edu 37 4 152609907 152609907 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000510720 -1 known p.R67W 1.000 44 0% 75 34.7% 23 26% - - - HMMPfam_GatB FBXW7 55294 genome.wustl.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_033632.2 -1 reviewed p.R465C 1.000 409 0% 310 31.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 KIAA0922 23240 genome.wustl.edu 37 4 154512292 154512292 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015196.3 +1 validated p.I585 0.000 145 0.7% 159 31.4% 0 - - - - NULL RNF175 285533 genome.wustl.edu 37 4 154636776 154636776 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_173662.2 -1 validated p.S223 0.000 75 0% 85 30.6% 5 20% - - - superfamily_RING/U-box PLRG1 5356 genome.wustl.edu 37 4 155463404 155463404 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002669.2 -1 provisional p.R208* 1.000 205 0% 157 25.5% 18 11.1% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 FAM198B 51313 genome.wustl.edu 37 4 159048640 159048640 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001031700.2 -1 validated p.I501 0.800 336 0% 308 23.4% 4 0% - - - NULL RXFP1 59350 genome.wustl.edu 37 4 159520411 159520411 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000440678 +1 known p.L101I 0.995 53 0% 41 26.8% 0 - - - - NULL RAPGEF2 9693 genome.wustl.edu 37 4 160271394 160271394 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014247.2 +1 validated p.S1112L 1.000 85 0% 71 29.6% 1 100% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) NULL FSTL5 56884 genome.wustl.edu 37 4 163032496 163032496 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020116.3 -1 validated p.S18L 0.590 211 0% 187 26.2% 0 - benign(0.014) deleterious(0.01) neutral(0.406) NULL TRIM60 166655 genome.wustl.edu 37 4 165962176 165962176 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152620.2 +1 reviewed p.R318* 0.006 97 0% 150 31.3% 0 - - - - HMMSmart_PRY KLHL2 11275 genome.wustl.edu 37 4 166231874 166231874 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007246.3 +1 validated p.Y403 0.998 525 0% 523 36.1% 11 63.6% - - - HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central CPE 1363 genome.wustl.edu 37 4 166408731 166408731 + Splice_Site SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001873.2 +1 reviewed e6+2 1.000 97 0% 102 27.5% 0 - - - - - GALNT7 51809 genome.wustl.edu 37 4 174219449 174219449 + Splice_Site SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017423.2 +1 reviewed e6+1 1.000 87 0% 89 32.6% 0 - - - - - ASB5 140458 genome.wustl.edu 37 4 177142387 177142387 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_080874.2 -1 reviewed p.E197* 1.000 138 0% 146 30.8% 0 - - - - HMMPfam_Ank,superfamily_Ankyrin repeat WWC2 80014 genome.wustl.edu 37 4 184190176 184190176 + Missense_Mutation SNP C C T rs192456369 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024949.5 +1 validated p.R754C 1.000 483 0% 503 31.4% 0 - probably_damaging(0.955) tolerated(0.22) neutral(0.441) HMMPfam_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) STOX2 56977 genome.wustl.edu 37 4 184930789 184930789 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020225.1 +1 provisional p.F266 0.831 54 0% 69 27.5% 0 - - - - NULL SLC6A3 6531 genome.wustl.edu 37 5 1422128 1422128 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001044.4 -1 reviewed p.R219C 1.000 5 0.000 19 0.526 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF ADCY2 108 genome.wustl.edu 37 5 7743841 7743841 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020546.2 +1 reviewed p.F644 0.974 384 0% 348 35.6% 0 - - - - NULL TAS2R1 50834 genome.wustl.edu 37 5 9629892 9629892 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_019599.2 -1 reviewed p.L85I 0.000 122 0% 131 37.4% 0 - benign(0) tolerated(0.42) neutral(0.014) HMMPfam_TAS2R,superfamily_SSF81321 DNAH5 1767 genome.wustl.edu 37 5 13700829 13700829 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001369.2 -1 reviewed p.R4548M 1.000 252 0% 269 16.7% 0 - possibly_damaging(0.924) deleterious(0) deleterious(0.818) HMMPfam_Dynein_heavy DNAH5 1767 genome.wustl.edu 37 5 13735963 13735963 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001369.2 -1 reviewed p.R3845H 1.000 289 0% 254 36.2% 1 0% possibly_damaging(0.884) tolerated(0.12) deleterious(0.605) NULL MARCH11 441061 genome.wustl.edu 37 5 16177968 16177968 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001102562.1 -1 provisional p.R187Q 1.000 64 0% 64 39.1% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMSmart_SM00744,HMMPfam_zf-C3HC4 CDH12 1010 genome.wustl.edu 37 5 21783489 21783489 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004061.3 -1 reviewed p.F457L 1.000 198 0% 167 31.7% 0 - benign(0.002) tolerated(0.29) neutral(0.029) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH12 1010 genome.wustl.edu 37 5 21802423 21802423 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004061.3 -1 reviewed p.T370M 0.996 173 1.7% 122 32% 0 - possibly_damaging(0.458) tolerated(0.24) neutral(0.188) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH10 1008 genome.wustl.edu 37 5 24511481 24511481 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006727.2 -1 reviewed p.I319 0.007 240 0% 198 33.3% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH9 1007 genome.wustl.edu 37 5 26906918 26906918 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016279.3 -1 reviewed p.D185Y 0.999 109 0% 63 39.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin SLC45A2 51151 genome.wustl.edu 37 5 33954545 33954545 + Missense_Mutation SNP C C T rs142299109 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016180.3 -1 reviewed p.R318H 1.000 62 0% 75 25.3% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) superfamily_MFS general substrate transporter RAI14 26064 genome.wustl.edu 37 5 34830830 34830830 + Missense_Mutation SNP A A T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001145525.1 +1 validated p.Q971L 1.000 117 0% 158 28.5% 48 52% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL IL7R 3575 genome.wustl.edu 37 5 35857130 35857130 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002185.2 +1 reviewed p.V17 0.363 190 0% 243 29.2% 0 - - - - NULL IL7R 3575 genome.wustl.edu 37 5 35867468 35867468 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002185.2 +1 reviewed p.I94 0.736 139 0% 125 30.4% 0 - - - - NULL LMBRD2 92255 genome.wustl.edu 37 5 36122537 36122537 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001007527.1 -1 validated p.R322Q 1.000 98 0% 82 41.5% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_LMBR1 NUP155 9631 genome.wustl.edu 37 5 37303002 37303002 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_153485.1 -1 reviewed p.I1109S 1.000 119 0% 155 28.4% 11 36.3% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Nucleoporin OSMR 9180 genome.wustl.edu 37 5 38904490 38904490 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003999.2 +1 reviewed p.F390 0.005 119 0% 120 10.8% 1 0% - - - HMMSmart_SM00060,superfamily_Fibronectin type III RICTOR 253260 genome.wustl.edu 37 5 38950385 38950385 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152756.3 -1 validated p.F1189V 0.999 470 0% 387 31.3% 0 - benign(0) tolerated(0.49) neutral(0.011) superfamily_ARM repeat DAB2 1601 genome.wustl.edu 37 5 39382955 39382955 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001343.2 -1 validated p.S369L 0.838 159 0% 162 28.4% 4 0% benign(0) tolerated(0.21) neutral(0.044) NULL DAB2 1601 genome.wustl.edu 37 5 39383332 39383332 + Silent SNP G G A rs145830813 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001343.2 -1 validated p.I243 1.000 206 0% 224 33.9% 2 0% - - - NULL CARD6 84674 genome.wustl.edu 37 5 40843441 40843441 + Silent SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032587.3 +1 reviewed p.E157 0.032 100 0% 123 14.6% 0 - - - - NULL HEATR7B2 133558 genome.wustl.edu 37 5 41004876 41004876 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_173489.4 -1 validated p.K1337N 1.000 108 0% 117 15.4% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) superfamily_ARM repeat SEPP1 6414 genome.wustl.edu 37 5 42807137 42807137 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001093726.1 -1 reviewed p.G123* 0.979 199 0% 203 28.6% 3 33.3% - - - HMMPfam_SelP_N NNT 23530 genome.wustl.edu 37 5 43653235 43653235 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_012343.3 +1 reviewed p.A660E 1.000 38 0% 46 13% 17 29.4% benign(0.403) deleterious(0.02) deleterious(0.512) HMMPfam_PNTB DDX4 54514 genome.wustl.edu 37 5 55083825 55083825 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024415.2 +1 validated p.F390C 1.000 137 0% 133 34.6% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases DDX4 54514 genome.wustl.edu 37 5 55088604 55088604 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024415.2 +1 validated p.F480L 1.000 145 0% 156 39.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases LOC345645 345645 genome.wustl.edu 37 5 55572256 55572256 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_002342506.1 -1 model p.R54I 1.000 61 0% 79 10.1% 0 - - - - NULL MAP3K1 4214 genome.wustl.edu 37 5 56167798 56167798 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005921.1 +1 validated p.S455R 1.000 215 0% 161 26.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_RING,superfamily_SSF57850 CD180 4064 genome.wustl.edu 37 5 66479890 66479890 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005582.2 -1 validated p.E261K 0.000 230 0% 222 32% 0 - benign(0) tolerated(0.35) neutral(0.021) superfamily_L domain-like MARVELD2 153562 genome.wustl.edu 37 5 68715232 68715232 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001038603.2 +1 validated p.S7F 0.879 87 0% 115 33.9% 2 100% unknown(0) tolerated(0.06) - NULL FCHO2 115548 genome.wustl.edu 37 5 72302290 72302290 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_138782.2 +1 validated p.K172E 1.000 20 0% 26 26.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FCHO2 115548 genome.wustl.edu 37 5 72383526 72383526 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_138782.2 +1 validated p.E786K 1.000 148 0% 130 40% 4 75% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL POLK 51426 genome.wustl.edu 37 5 74879241 74879241 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016218.2 +1 validated p.K353T 1.000 95 0% 97 26.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IMS,superfamily_DNA/RNA polymerases SV2C 22987 genome.wustl.edu 37 5 75428097 75428097 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014979.1 +1 provisional p.F174 0.989 179 0% 128 39.8% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter IQGAP2 10788 genome.wustl.edu 37 5 75885466 75885466 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006633.2 +1 validated p.E185* 1.000 31 0% 41 29.3% 0 - - - - superfamily_Calponin-homology domain CH-domain IQGAP2 10788 genome.wustl.edu 37 5 75970448 75970448 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006633.2 +1 validated p.H1147 0.070 332 0% 332 26.5% 3 100% - - - HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP F2R 2149 genome.wustl.edu 37 5 76029225 76029225 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001992.3 +1 reviewed p.S392F 0.000 63 0% 67 38.8% 3 0% benign(0.001) deleterious(0.01) neutral(0.406) superfamily_SSF81321 PDE8B 8622 genome.wustl.edu 37 5 76624876 76624876 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003719.2 +1 validated p.S215L 1.000 74 0% 71 38% 0 - benign(0.045) deleterious(0.03) neutral(0.367) HMMPfam_Response_reg WDR41 55255 genome.wustl.edu 37 5 76754915 76754915 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018268.2 -1 validated p.R128I 0.914 155 0% 99 34.3% 8 50% benign(0.002) tolerated(0.06) neutral(0.323) HMMSmart_WD40,superfamily_WD40_like JMY 133746 genome.wustl.edu 37 5 78596648 78596648 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152405.4 +1 validated p.R615W 1.000 122 0% 98 16.3% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL JMY 133746 genome.wustl.edu 37 5 78608307 78608307 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152405.4 +1 validated p.R684* 1.000 334 0% 346 33.2% 0 - - - - NULL CMYA5 202333 genome.wustl.edu 37 5 79027465 79027465 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_153610.3 +1 validated p.P959 0.000 196 0% 258 19% 0 - - - - NULL SERINC5 256987 genome.wustl.edu 37 5 79473811 79473811 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_178276.5 -1 validated p.V91M 1.000 58 0% 87 34.5% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Serinc SPZ1 84654 genome.wustl.edu 37 5 79616235 79616235 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032567.3 +1 validated p.Q67H 0.078 281 0.4% 360 28.9% 0 - possibly_damaging(0.598) deleterious(0.02) deleterious(0.590) NULL CKMT2 1160 genome.wustl.edu 37 5 80562071 80562071 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001099735.1 +1 reviewed p.K418N 0.516 238 0% 242 31% 5 60% possibly_damaging(0.515) deleterious(0.01) deleterious(0.579) superfamily_SSF55931 ATP6AP1L 92270 genome.wustl.edu 37 5 81614108 81614108 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001017971.1 +1 provisional p.I222L 0.000 82 0% 83 37.3% 7 42.8% benign(0.001) deleterious(0.03) neutral(0.364) NULL GPR98 84059 genome.wustl.edu 37 5 89933626 89933626 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032119.3 +1 reviewed p.A701S 0.923 123 0% 104 34.6% 0 - benign(0) tolerated(0.29) neutral(0.029) NULL GPR98 84059 genome.wustl.edu 37 5 89971105 89971105 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032119.3 +1 reviewed p.A1719V 0.007 55 0% 55 34.5% 0 - benign(0.025) tolerated(0.36) neutral(0.021) HMMSmart_SM00237 ST8SIA4 7903 genome.wustl.edu 37 5 100191972 100191972 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005668.4 -1 reviewed p.F211C 1.000 262 0% 220 32.7% 1 0% probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMPfam_Glyco_transf_29 FBXL17 64839 genome.wustl.edu 37 5 107521821 107521821 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000496714 -1 known p.D183G 1.000 40 0% 57 26.3% 4 25% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_SSF52047 MAN2A1 4124 genome.wustl.edu 37 5 109190857 109190857 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002372.2 +1 reviewed p.S998L 0.136 86 0% 79 31.6% 7 85.7% benign(0) tolerated(0.08) neutral(0.300) superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C WDR36 134430 genome.wustl.edu 37 5 110446885 110446885 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_139281.2 +1 reviewed p.A598T 1.000 326 0% 231 31.2% 3 100% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) superfamily_WD40_like APC 324 genome.wustl.edu 37 5 112174166 112174166 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000038.4 +1 reviewed p.S959P 1.000 167 0% 194 42.3% 0 - possibly_damaging(0.694) tolerated(0.23) neutral(0.290) NULL APC 324 genome.wustl.edu 37 5 112174518 112174518 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000038.4 +1 reviewed p.P1076L 0.027 183 0% 233 29.6% 0 - benign(0.066) deleterious(0) neutral(0.449) NULL SEMA6A 57556 genome.wustl.edu 37 5 115813618 115813618 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020796.3 -1 validated p.C525G 1.000 229 0% 230 14.8% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat FTMT 94033 genome.wustl.edu 37 5 121188335 121188335 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_177478.1 +1 validated p.A226V 0.974 139 0% 136 32.4% 0 - possibly_damaging(0.808) deleterious(0.01) deleterious(0.710) superfamily_Ferritin/RR_like ZNF474 133923 genome.wustl.edu 37 5 121488227 121488227 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_207317.1 +1 provisional p.L181R 0.006 153 0% 152 36.2% 0 - possibly_damaging(0.669) tolerated(0.53) neutral(0.244) NULL SLC27A6 28965 genome.wustl.edu 37 5 128324429 128324429 + Silent SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001017372.1 +1 reviewed p.G274 0.955 262 0% 286 32.5% 2 100% - - - HMMPfam_AMP-binding,superfamily_SSF56801 SLC27A6 28965 genome.wustl.edu 37 5 128326057 128326057 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001017372.1 +1 reviewed p.K290T 1.000 99 0% 125 39.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_AMP-binding,superfamily_SSF56801 ADAMTS19 171019 genome.wustl.edu 37 5 128984591 128984591 + Missense_Mutation SNP C C G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_133638.3 +1 reviewed p.Q696E 1.000 287 0% 237 22.8% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZCCHC10 54819 genome.wustl.edu 37 5 132334466 132334466 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017665.1 -1 provisional p.T108A 0.680 93 0% 98 37.8% 11 45.4% unknown(0) - - NULL TIFAB 497189 genome.wustl.edu 37 5 134785161 134785161 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001099221.1 -1 validated p.P157S 0.001 33 0% 51 23.5% 1 0% unknown(0) tolerated(0.34) - NULL TGFBI 7045 genome.wustl.edu 37 5 135389745 135389745 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000509485 +1 known p.W38* 1.000 84 0% 141 22% 18 0% benign(0.054) deleterious(0.01) neutral(0.409) HMMPfam_Fasciclin,superfamily_FAS1 domain TRPC7 57113 genome.wustl.edu 37 5 135651465 135651465 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000503275 -1 known p.R261* 0.991 45 0% 64 28.1% 0 - - - - NULL PCDHA1 56147 genome.wustl.edu 37 5 140167022 140167022 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018900.2 +1 reviewed p.G383R 1.000 75 0% 146 35.6% 0 - probably_damaging(0.996) deleterious(0.05) deleterious(0.807) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA2 56146 genome.wustl.edu 37 5 140175879 140175879 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018905.2 +1 reviewed p.E444K 0.002 53 0% 99 18.2% 0 - possibly_damaging(0.803) tolerated(0.2) neutral(0.351) HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHB2 56133 genome.wustl.edu 37 5 140475258 140475258 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018936.2 +1 reviewed p.R295Q 0.000 142 0% 205 34.1% 9 0% benign(0.003) tolerated(0.61) neutral(0.004) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB8 56128 genome.wustl.edu 37 5 140559775 140559775 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_019120.2 +1 reviewed p.A720 0.000 49 0% 98 24.5% 1 0% - - - NULL PCDHB16 57717 genome.wustl.edu 37 5 140562255 140562255 + Silent SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020957.1 +1 reviewed p.R41 0.018 72 0% 115 22.6% 0 - - - - HMMPfam_Cadherin_2,superfamily_Cadherin PCDHB11 56125 genome.wustl.edu 37 5 140580339 140580339 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018931.2 +1 reviewed p.S331Y 0.000 173 0% 237 32.1% 0 - possibly_damaging(0.611) deleterious(0) deleterious(0.656) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB12 56124 genome.wustl.edu 37 5 140589331 140589331 + Silent SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018932.3 +1 reviewed p.A284 0.000 144 0% 256 16% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB14 56122 genome.wustl.edu 37 5 140603120 140603120 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018934.2 +1 reviewed p.L15I 0.000 74 0% 102 25.5% 0 - benign(0.096) tolerated(0.13) neutral(0.260) NULL PCDHGA5 56110 genome.wustl.edu 37 5 140744574 140744574 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018918.2 +1 reviewed p.T226M 0.004 46 0% 83 19.3% 0 - benign(0.006) tolerated(0.12) neutral(0.261) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA8 9708 genome.wustl.edu 37 5 140773387 140773387 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032088.1 +1 reviewed p.S336L 0.000 87 0% 165 10.9% 0 - benign(0.023) tolerated(0.08) neutral(0.301) HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGA8 9708 genome.wustl.edu 37 5 140773459 140773459 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032088.1 +1 reviewed p.S360Y 1.000 65 0% 103 28.2% 0 - possibly_damaging(0.44) deleterious(0) deleterious(0.588) HMMPfam_Cadherin,superfamily_Cadherin-like PCDHGB5 56101 genome.wustl.edu 37 5 140780023 140780023 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018925.2 +1 reviewed p.C777R 0.008 110 0% 217 26.3% 1 0% - - - NULL PCDHGB5 56101 genome.wustl.edu 37 5 140780136 140780136 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032099.1 +1 reviewed p.F814 0.005 61 0% 98 34.7% 0 - - - - NULL PCDHGA12 26025 genome.wustl.edu 37 5 140812447 140812447 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003735.2 +1 reviewed p.F707 0.663 63 0% 140 33.6% 0 - - - - NULL PCDHGA12 26025 genome.wustl.edu 37 5 140812690 140812690 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003735.2 +1 reviewed p.S788 0.906 109 0% 169 39.6% 1 0% - - - NULL HDAC3 8841 genome.wustl.edu 37 5 141005270 141005270 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003883.3 -1 reviewed p.E347D 1.000 86 0% 158 13.3% 69 20.2% benign(0.011) tolerated(0.39) neutral(0.017) superfamily_Arginase/deacetylase GNPDA1 10007 genome.wustl.edu 37 5 141391505 141391505 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005471.4 -1 validated p.E32D 0.860 40 0% 43 37.2% 22 36.3% benign(0) tolerated(1) - HMMPfam_Glucosamine_iso,superfamily_SSF100950 GRXCR2 643226 genome.wustl.edu 37 5 145252389 145252389 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001080516.1 -1 provisional p.E48G 1.000 210 0% 241 32.4% 0 - probably_damaging(0.974) deleterious(0.01) deleterious(0.822) NULL DPYSL3 1809 genome.wustl.edu 37 5 146773638 146773638 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001387.2 -1 validated p.A558V 0.998 51 0% 66 39.4% 3 33.3% benign(0.007) tolerated(0.2) neutral(0.049) NULL SCGB3A2 117156 genome.wustl.edu 37 5 147261026 147261026 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_054023.4 +1 reviewed p.N25D 0.048 296 0% 334 28.7% 0 - benign(0.001) tolerated(0.73) neutral(0.002) NULL SPINK7 84651 genome.wustl.edu 37 5 147695204 147695204 + Missense_Mutation SNP A A T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032566.2 +1 validated p.K72I 0.998 105 0% 118 37.3% 0 - probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_Kazal_1,HMMSmart_KAZAL,superfamily_SSF100895 PDGFRB 5159 genome.wustl.edu 37 5 149500463 149500463 + Silent SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002609.3 -1 reviewed p.I858 1.000 12 0% 22 27.3% 6 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like ZNF300 91975 genome.wustl.edu 37 5 150276037 150276037 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_052860.2 -1 reviewed p.S255F 0.000 472 0% 396 27.8% 1 0% probably_damaging(0.964) tolerated(0.7) neutral(0.408) superfamily_C2H2 and C2HC zinc fingers FAT2 2196 genome.wustl.edu 37 5 150923147 150923147 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001447.2 -1 reviewed p.G2514D 1.000 186 0% 277 20.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150942966 150942966 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001447.2 -1 reviewed p.D1165A 1.000 36 0% 57 10.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150947662 150947662 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001447.2 -1 reviewed p.V277 0.814 66 0% 86 34.9% 0 - - - - superfamily_Cadherin-like KIF4B 285643 genome.wustl.edu 37 5 154393811 154393811 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001099293.1 +1 provisional p.D131G 1.000 164 0% 259 36.7% 0 - possibly_damaging(0.73) deleterious(0.01) deleterious(0.672) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 KCNMB1 3779 genome.wustl.edu 37 5 169812344 169812344 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004137.2 -1 reviewed p.T36 0.034 15 0% 47 21.3% 8 0% - - - HMMPfam_CaKB NSD1 64324 genome.wustl.edu 37 5 176683967 176683967 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_022455.4 +1 reviewed p.F1594C 1.000 157 0% 227 34.8% 5 80% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00249 NSD1 64324 genome.wustl.edu 37 5 176710828 176710828 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_022455.4 +1 reviewed p.R2017Q 1.000 287 0% 320 33.4% 12 58.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain CNOT6 57472 genome.wustl.edu 37 5 179980414 179980414 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015455.3 +1 reviewed p.R110* 1.000 76 0% 91 28.6% 5 0% - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like BTNL3 10917 genome.wustl.edu 37 5 180432368 180432368 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_197975.1 +1 validated p.P299 0.000 165 0% 291 34.7% 0 - - - - HMMSmart_PRY MYLK4 340156 genome.wustl.edu 37 6 2675340 2675340 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001012418.3 -1 validated p.E354K 0.999 60 0% 70 38.6% 0 - benign(0) deleterious(0.03) neutral(0.364) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SYCP2L 221711 genome.wustl.edu 37 6 10894348 10894348 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001040274.2 +1 validated p.S83P 0.818 109 0% 135 23% 1 100% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL HIVEP1 3096 genome.wustl.edu 37 6 12120616 12120616 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002114.2 +1 validated p.F196 0.616 293 0% 365 30.7% 0 - - - - NULL CCDC90A 63933 genome.wustl.edu 37 6 13801587 13801587 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001031713.2 -1 validated p.A225V 0.991 126 0% 122 35.2% 65 52.3% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_DUF1640 MBOAT1 154141 genome.wustl.edu 37 6 20109846 20109846 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001080480.1 -1 provisional p.P448 0.353 133 0% 156 25.6% 17 35.2% - - - NULL FKSG83 387316 genome.wustl.edu 37 6 27293585 27293585 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032030.2 +1 validated p.R175I 0.000 107 0% 99 30.3% 0 - - - - NULL OR2J3 442186 genome.wustl.edu 37 6 29079940 29079940 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001005216.2 +1 validated p.P91 0.000 666 0% 530 32.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2H2 7932 genome.wustl.edu 37 6 29555794 29555794 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007160.3 +1 provisional p.L25I 0.839 438 0% 483 31.5% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_Family A G protein-coupled receptor-like TRIM31 11074 genome.wustl.edu 37 6 30080282 30080282 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007028.3 -1 reviewed p.M101L 0.007 148 0% 198 36.9% 1 0% benign(0.016) tolerated(0.11) neutral(0.272) HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_RING/U-box VARS2 57176 genome.wustl.edu 37 6 30883636 30883636 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020442.4 +1 validated p.L166 0.213 59 0% 155 32.9% 8 50% - - - HMMPfam_tRNA-synt_1,superfamily_Nucleotidylyl transferase MSH5 4439 genome.wustl.edu 37 6 31711941 31711941 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_025259.5 +1 reviewed p.P188L 0.077 220 0% 324 38.3% 0 - benign(0.007) tolerated(0.2) neutral(0.049) NULL HSPA1L 3305 genome.wustl.edu 37 6 31778028 31778028 + Silent SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005527.3 -1 reviewed p.D574 0.018 136 0% 304 33.9% 2 50% - - - HMMPfam_HSP70,superfamily_SSF100934 RNF5 6048 genome.wustl.edu 37 6 32146373 32146373 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006913.3 +1 reviewed p.I29L 1.000 31 0% 29 24.1% 79 50.6% probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 NOTCH4 4855 genome.wustl.edu 37 6 32169955 32169955 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004557.3 -1 reviewed p.S1218Y 0.892 27 0% 80 30% 2 0% possibly_damaging(0.924) tolerated(0.42) neutral(0.387) HMMPfam_Notch,HMMSmart_SM00004,superfamily_Notch domain HLA-DMA 3108 genome.wustl.edu 37 6 32917167 32917167 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006120.3 -1 reviewed p.N221S 0.484 52 0% 57 35.1% 289 38% benign(0.089) tolerated(0.71) neutral(0.008) NULL BRD2 6046 genome.wustl.edu 37 6 32948136 32948136 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000449025 +1 known p.W727* 1.000 243 0% 329 28.6% 182 44.5% unknown(0) deleterious(0.01) - NULL BRD2 6046 genome.wustl.edu 37 6 32948431 32948432 + Frame_Shift_Ins INS - - A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001113182.1 +1 reviewed p.D782fs 1.000:0.281 - - - - - - - - - NULL COL11A2 1302 genome.wustl.edu 37 6 33154424 33154424 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_080680.2 -1 reviewed p.N260H 0.996 49 0% 73 37% 0 - probably_damaging(0.983) deleterious(0.01) deleterious(0.835) NULL SCUBE3 222663 genome.wustl.edu 37 6 35212477 35212477 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152753.2 +1 provisional p.R764C 1.000 70 0% 131 10.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00181,superfamily_Growth factor receptor domain,HMMPfam_GCC2_GCC3 FKBP5 2289 genome.wustl.edu 37 6 35543629 35543629 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001145775.1 -1 reviewed p.P453S 0.000 164 0% 225 11.1% 1 0% benign(0) tolerated(0.15) neutral(0.241) NULL DNAH8 1769 genome.wustl.edu 37 6 38866033 38866033 + Splice_Site SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001371.2 +1 validated e57-1 0.999 252 0% 198 27.3% 0 - - - - - UBR2 23304 genome.wustl.edu 37 6 42600342 42600342 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015255.2 +1 reviewed p.F445C 1.000 86 0% 93 36.6% 1 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL XPO5 57510 genome.wustl.edu 37 6 43515352 43515352 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020750.2 -1 validated p.R718H 1.000 44 0% 84 22.6% 13 46.1% possibly_damaging(0.923) - - superfamily_ARM repeat VEGFA 7422 genome.wustl.edu 37 6 43745252 43745252 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001025366.2 +1 reviewed p.I235 0.077 22 0% 69 34.8% 53 41.5% - - - HMMPfam_PDGF,HMMSmart_SM00141,superfamily_Cystine-knot cytokines HSP90AB1 3326 genome.wustl.edu 37 6 44218900 44218900 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007355.2 +1 provisional p.R358H 1.000 175 0% 347 31.4% 881 49% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ribosomal protein S5 domain 2-like,HMMPfam_HSP90 TCTE1 202500 genome.wustl.edu 37 6 44255515 44255515 + Silent SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_182539.3 -1 validated p.S16 0.080 10 0% 33 30.3% 1 0% - - - NULL MUT 4594 genome.wustl.edu 37 6 49419303 49419303 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000255.3 -1 reviewed p.R403Q 1.000 191 0% 199 28.1% 12 50% probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMPfam_MM_CoA_mutase,PatternScan_METMALONYL_COA_MUTASE,superfamily_Cobalamin (vitamin B12)-dependent enzymes PKHD1 5314 genome.wustl.edu 37 6 51890904 51890904 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_138694.3 -1 reviewed p.R1235Q 0.009 132 0% 124 33.9% 0 - benign(0.001) tolerated(0.59) neutral(0.004) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains BMP5 653 genome.wustl.edu 37 6 55684513 55684513 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_021073.2 -1 reviewed p.R208Q 1.000 136 0% 127 24.4% 0 - possibly_damaging(0.843) tolerated(0.36) neutral(0.343) HMMPfam_TGFb_propeptide BEND6 221336 genome.wustl.edu 37 6 56846689 56846689 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152731.2 +1 validated p.M27I 1.000 395 0% 409 28.6% 0 - benign(0.022) tolerated(0.74) neutral(0.003) NULL ZNF451 26036 genome.wustl.edu 37 6 57012178 57012178 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001031623.2 +1 validated p.S432Y 0.016 278 0.4% 265 37.4% 0 - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL PRIM2 5558 genome.wustl.edu 37 6 57372328 57372328 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000425433 +1 known p.R245I 1.000 161 0% 134 11.9% 15 0% - - - HMMPfam_DNA_primase_lrg KHDRBS2 202559 genome.wustl.edu 37 6 62757802 62757802 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152688.2 -1 validated p.S106* 1.000 331 0% 254 26% 0 - - - - HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 PHF3 23469 genome.wustl.edu 37 6 64416666 64416666 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015153.2 +1 provisional p.R1204Q 1.000 199 0% 186 37.1% 1 100% probably_damaging(0.983) deleterious(0.01) deleterious(0.835) NULL KCNQ5 56479 genome.wustl.edu 37 6 73843172 73843172 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_019842.3 +1 reviewed p.R426C 1.000 98 0% 89 25.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KCNQ5 56479 genome.wustl.edu 37 6 73900379 73900379 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_019842.3 +1 reviewed p.S554Y 1.000 63 0% 65 29.2% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_KCNQ_channel LCA5 167691 genome.wustl.edu 37 6 80196939 80196939 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001122769.2 -1 reviewed p.S626A 0.000 325 0% 279 31.2% 1 0% possibly_damaging(0.473) tolerated(0.52) neutral(0.165) NULL UFL1 23376 genome.wustl.edu 37 6 97001363 97001363 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015323.4 +1 validated p.S790F 1.000 94 0% 60 35% 10 60% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) NULL SIM1 6492 genome.wustl.edu 37 6 100838682 100838682 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005068.2 -1 reviewed p.C619F 1.000 209 0% 146 24.7% 0 - possibly_damaging(0.677) deleterious(0) deleterious(0.685) HMMPfam_SIM_C SNX3 8724 genome.wustl.edu 37 6 108544222 108544222 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003795.4 -1 reviewed p.E64* 1.000 40 0% 55 40% 69 8.6% - - - HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain LACE1 246269 genome.wustl.edu 37 6 108645237 108645237 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_145315.3 +1 reviewed p.E116D 0.048 124 0% 189 32.8% 0 - benign(0.018) tolerated(0.55) neutral(0.007) superfamily_SSF52540 SLC16A10 117247 genome.wustl.edu 37 6 111543325 111543325 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018593.4 +1 validated p.E479* 0.762 178 0% 189 31.7% 2 0% - - - superfamily_MFS_gen_substrate_transporter HS3ST5 222537 genome.wustl.edu 37 6 114379326 114379326 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_153612.3 -1 validated p.R46* 0.984 58 0% 60 31.7% 0 - - - - NULL SLC35F1 222553 genome.wustl.edu 37 6 118588241 118588241 + Silent SNP C C T rs188928224 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001029858.3 +1 validated p.I187 0.121 325 0% 315 22.2% 0 - - - - HMMPfam_DUF914 SLC35F1 222553 genome.wustl.edu 37 6 118588247 118588247 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001029858.3 +1 validated p.I189 0.428 313 0.3% 315 38.4% 0 - - - - HMMPfam_DUF914 TRDN 10345 genome.wustl.edu 37 6 123760118 123760118 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006073.2 -1 validated p.K321T 1.000 9 0.000 16 0.375 0 - unknown(0) tolerated(0.63) - NULL RNF217 154214 genome.wustl.edu 37 6 125404013 125404013 + Nonsense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000432968 +1 known p.L228* 1.000 109 0% 91 26.4% 4 25% - - - NULL NCOA7 135112 genome.wustl.edu 37 6 126210977 126210977 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_181782.3 +1 validated p.L593 0.000 202 0% 196 34.2% 2 0% - - - NULL KIAA0408 9729 genome.wustl.edu 37 6 127771328 127771328 + Missense_Mutation SNP C C A rs192736673 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014702.4 -1 validated p.R102I 0.000 231 0% 217 36.9% 0 - benign(0.343) tolerated(0.17) neutral(0.167) NULL LAMA2 3908 genome.wustl.edu 37 6 129687474 129687474 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000426.3 +1 reviewed p.Y1610H 0.998 56 0% 55 29.1% 0 - benign(0.001) tolerated(0.55) neutral(0.007) superfamily_ConA_like_lec_gl,HMMPfam_Laminin_I ARHGAP18 93663 genome.wustl.edu 37 6 129955211 129955211 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_033515.2 -1 validated p.E198* 1.000 133 0% 122 11.5% 0 - - - - NULL MOXD1 26002 genome.wustl.edu 37 6 132713400 132713400 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000392401 -1 known p.A101 0.628 31 0% 44 31.8% 0 - - - - NULL EYA4 2070 genome.wustl.edu 37 6 133834159 133834159 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004100.4 +1 reviewed p.Y495C 1.000 114 0% 114 37.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hydrolase MYB 4602 genome.wustl.edu 37 6 135509017 135509017 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001130173.1 +1 reviewed p.W63R 1.000 84 0% 96 32.3% 1 0% possibly_damaging(0.95) deleterious(0) deleterious(0.838) HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding TXLNB 167838 genome.wustl.edu 37 6 139609899 139609899 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_153235.3 -1 validated p.E46D 0.000 219 0% 204 34.8% 0 - possibly_damaging(0.923) deleterious(0.01) deleterious(0.778) NULL HIVEP2 3097 genome.wustl.edu 37 6 143092118 143092118 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006734.3 -1 provisional p.S1253L 0.685 96 0% 148 16.2% 0 - benign(0.01) tolerated(0.15) neutral(0.241) NULL PEX3 8504 genome.wustl.edu 37 6 143810357 143810357 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003630.2 +1 reviewed p.E372 1.000 142 0% 149 28.2% 23 39.1% - - - NULL LTV1 84946 genome.wustl.edu 37 6 144184235 144184235 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032860.3 +1 provisional p.R377* 0.986 219 0% 258 29.1% 43 11.6% - - - HMMPfam_LTV PLAGL1 5325 genome.wustl.edu 37 6 144262742 144262742 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001080951.1 -1 reviewed p.A404V 0.003 74 0% 93 34.4% 4 75% benign(0) tolerated(0.19) neutral(0.050) NULL UTRN 7402 genome.wustl.edu 37 6 144898291 144898291 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007124.2 +1 reviewed p.R2449H 0.548 143 0% 73 34.2% 1 0% benign(0.051) tolerated(0.66) neutral(0.005) HMMSmart_SPEC GRM1 2911 genome.wustl.edu 37 6 146350666 146350666 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000838.3 +1 reviewed p.L5I 0.994 147 0% 150 31.3% 0 - benign(0.006) tolerated(0.7) neutral(0.002) NULL GRM1 2911 genome.wustl.edu 37 6 146625858 146625858 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000838.3 +1 reviewed p.F354L 1.000 104 0% 71 22.5% 0 - benign(0.004) deleterious(0.01) neutral(0.406) HMMPfam_ANF_receptor,superfamily_SSF53822 SASH1 23328 genome.wustl.edu 37 6 148865925 148865925 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015278.3 +1 validated p.D1107N 1.000 9 0.000 16 0.375 2 50% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL ZC3H12D 340152 genome.wustl.edu 37 6 149795380 149795380 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_207360.2 -1 validated p.A100 0.066 14 0% 33 48.5% 0 - - - - NULL SYNE1 23345 genome.wustl.edu 37 6 152510441 152510441 + Silent SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_182961.2 -1 reviewed p.I7749 1.000 166 0% 167 34.7% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152529286 152529286 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_182961.2 -1 reviewed p.R7549C 1.000 199 0% 188 33.5% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152688316 152688316 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000454018 -1 known p.E454* 0.004 95 0% 117 31.6% 0 - - - - NULL IGF2R 3482 genome.wustl.edu 37 6 160454141 160454141 + Splice_Site SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000876.2 +1 reviewed e9+2 0.987 79 0% 118 35.6% 1 100% - - - - WDR27 253769 genome.wustl.edu 37 6 170060807 170060807 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_182552.3 -1 validated p.V361I 0.000 26 0% 46 28.3% 8 25% benign(0.001) tolerated(1) - NULL PAPOLB 56903 genome.wustl.edu 37 7 4899890 4899890 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020144.4 -1 validated p.D518Y 0.490 193 0% 261 24.9% 0 - benign(0.001) deleterious(0.02) neutral(0.383) NULL RSPH10B2 728194 genome.wustl.edu 37 7 6797468 6797468 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001099697.1 +1 provisional p.E54K 0.001 112 0% 237 27.8% 0 - benign(0.156) tolerated(0.41) neutral(0.029) NULL LOC100131257 100131257 genome.wustl.edu 37 7 7118420 7118420 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_001716696.1 -1 model p.E262* 1.000 170 0% 185 29.7% 0 - - - - superfamily_C2H2 and C2HC zinc fingers NXPH1 30010 genome.wustl.edu 37 7 8791118 8791118 + Missense_Mutation SNP G G A rs145299363 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152745.2 +1 reviewed p.A179T 1.000 92 0% 69 15.9% 0 - benign(0.011) tolerated(0.59) neutral(0.005) HMMPfam_Neurexophilin ISPD 729920 genome.wustl.edu 37 7 16131416 16131416 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001101426.3 -1 validated p.Q420H 0.963 13 0% 14 28.6% 1 0% possibly_damaging(0.848) deleterious(0.01) deleterious(0.731) NULL TWISTNB 221830 genome.wustl.edu 37 7 19748423 19748423 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001002926.1 -1 validated p.E73* 0.992 89 0% 86 31.4% 1 0% - - - HMMPfam_RNA_pol_Rpb7_N ABCB5 340273 genome.wustl.edu 37 7 20685493 20685493 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000404938 +1 known p.E265* 1.000 278 0% 244 32.8% 0 - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB5 340273 genome.wustl.edu 37 7 20691167 20691167 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_178559.5 +1 validated p.R41Q 1.000 213 0% 184 31.5% 0 - benign(0.241) tolerated(0.06) neutral(0.347) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH11 8701 genome.wustl.edu 37 7 21695579 21695579 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003777.3 +1 reviewed p.E1697K 0.000 77 0% 50 28% 0 - benign(0.004) tolerated(0.91) - HMMPfam_DHC_N2 CDCA7L 55536 genome.wustl.edu 37 7 21947891 21947891 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018719.4 -1 validated p.L180I 0.000 55 0% 67 26.9% 13 53.8% possibly_damaging(0.653) deleterious(0) deleterious(0.674) NULL STK31 56164 genome.wustl.edu 37 7 23802486 23802486 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_031414.3 +1 reviewed p.D454Y 0.998 241 0% 246 33.3% 0 - benign(0.313) deleterious(0.02) deleterious(0.481) NULL DFNA5 1687 genome.wustl.edu 37 7 24789230 24789230 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001127453.1 -1 reviewed p.S55F 0.799 188 0% 221 29.4% 1 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_Gasdermin OSBPL3 26031 genome.wustl.edu 37 7 24880316 24880316 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015550.2 -1 reviewed p.Q496 1.000 40 0% 49 36.7% 2 100% - - - HMMPfam_Oxysterol_BP OSBPL3 26031 genome.wustl.edu 37 7 24911363 24911363 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015550.2 -1 reviewed p.D89N 1.000 116 0% 120 31.7% 4 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like HOXA7 3204 genome.wustl.edu 37 7 27194671 27194671 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006896.3 -1 reviewed p.K184E 1.000 35 0% 101 31.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 ADCYAP1R1 117 genome.wustl.edu 37 7 31124988 31124988 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001118.3 +1 reviewed p.A200 0.953 108 0% 190 28.9% 3 33.3% - - - HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like NT5C3 51251 genome.wustl.edu 37 7 33059274 33059274 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001002010.1 -1 reviewed p.I173S 1.000 115 0% 131 38.9% 19 36.8% benign(0.405) deleterious(0.01) deleterious(0.536) HMMPfam_UMPH-1,superfamily_HAD-like BBS9 27241 genome.wustl.edu 37 7 33192343 33192343 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_198428.2 +1 reviewed p.Y48C 1.000 122 0% 125 35.2% 0 - benign(0.332) deleterious(0.02) deleterious(0.487) NULL BMPER 168667 genome.wustl.edu 37 7 34118739 34118739 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_133468.3 +1 validated p.R450H 0.793 83 0% 80 31.2% 0 - benign(0) tolerated(0.24) neutral(0.037) HMMPfam_VWD,HMMSmart_VWD ANLN 54443 genome.wustl.edu 37 7 36464171 36464171 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018685.2 +1 validated p.D874G 1.000 108 0% 82 26.8% 11 54.5% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL AMPH 273 genome.wustl.edu 37 7 38500961 38500961 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000441628 -1 known p.G64* 1.000 294 0% 252 30.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL AMPH 273 genome.wustl.edu 37 7 38574563 38574563 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001635.2 -1 reviewed p.E40K 1.000 73 0% 74 17.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BAR,HMMSmart_SM00721 GLI3 2737 genome.wustl.edu 37 7 42018306 42018306 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000168.5 -1 reviewed p.F513 0.985 52 0% 64 31.2% 0 - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355 C7orf25 79020 genome.wustl.edu 37 7 42949404 42949404 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001099858.1 -1 validated p.D424Y 1.000 108 0% 115 29.6% 30 40% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_DUF1308 ADCY1 107 genome.wustl.edu 37 7 45662327 45662327 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_021116.2 +1 reviewed p.F335 0.998 23 0% 29 27.6% 0 - - - - HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase IGFBP1 3484 genome.wustl.edu 37 7 45930309 45930309 + Missense_Mutation SNP A A T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000596.2 +1 reviewed p.K171I 0.000 48 0% 97 10.3% 1 0% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) superfamily_Thyroglobulin type-1 domain HUS1 3364 genome.wustl.edu 37 7 48016010 48016010 + Silent SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000433977 -1 known p.I137 0.000 11 0.000 9 0.556 0 - - - - HMMPfam_Hus1 C7orf57 136288 genome.wustl.edu 37 7 48083164 48083164 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001100159.1 +1 validated p.P110T 0.995 63 0% 77 29.9% 1 0% probably_damaging(0.977) tolerated(0.08) deleterious(0.719) NULL ABCA13 154664 genome.wustl.edu 37 7 48315177 48315177 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152701.3 +1 reviewed p.N1972H 0.001 127 0% 88 39.8% 1 0% probably_damaging(0.99) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48390345 48390345 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152701.3 +1 reviewed p.Q3437R 0.998 93 0% 90 37.8% 0 - benign(0.04) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48550725 48550725 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152701.3 +1 reviewed p.A4524T 0.960 69 0% 81 22.2% 0 - probably_damaging(0.979) - - NULL FIGNL1 63979 genome.wustl.edu 37 7 50513485 50513485 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001042762.1 -1 validated p.E501K 1.000 213 0% 215 30.7% 10 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases SEC61G 23480 genome.wustl.edu 37 7 54825211 54825211 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001012456.1 -1 reviewed p.R24K 1.000 75 0% 128 31.2% 674 46.8% benign(0) tolerated(0.47) neutral(0.011) HMMPfam_SecE,PatternScan_SECE_SEC61G,superfamily_Preprotein translocase SecE subunit ZNF479 90827 genome.wustl.edu 37 7 57188340 57188340 + Missense_Mutation SNP C C A rs186421110 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_033273.1 -1 provisional p.R261I 0.982 188 0% 206 28.2% 0 - benign(0) tolerated(0.36) neutral(0.020) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF716 441234 genome.wustl.edu 37 7 57528659 57528659 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_002342727.1 +1 model p.K164N 0.926 138 0% 152 30.3% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_C2H2 and C2HC zinc fingers ERV3-1 2086 genome.wustl.edu 37 7 64453167 64453167 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001007253.3 -1 reviewed p.V80L 0.874 113 0% 159 17.6% 1 100% possibly_damaging(0.574) deleterious(0) deleterious(0.641) NULL KCTD7 154881 genome.wustl.edu 37 7 66098334 66098334 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_153033.3 +1 validated p.E73K 1.000 38 0% 93 37.6% 1 100% possibly_damaging(0.546) tolerated(0.2) neutral(0.234) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain AUTS2 26053 genome.wustl.edu 37 7 69599557 69599557 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015570.2 +1 validated p.F220 1.000 227 0% 262 37% 3 66.6% - - - NULL CCDC146 57639 genome.wustl.edu 37 7 76908304 76908304 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020879.2 +1 validated p.K527T 1.000 101 0% 102 28.4% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GNAI1 2770 genome.wustl.edu 37 7 79840331 79840331 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002069.5 +1 validated p.H213N 1.000 143 0% 116 31% 2 0% possibly_damaging(0.834) deleterious(0) deleterious(0.762) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases GNAT3 346562 genome.wustl.edu 37 7 80117878 80117878 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001102386.1 -1 provisional p.G92 0.973 43 0% 31 22.6% 0 - - - - HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases CACNA2D1 781 genome.wustl.edu 37 7 81799875 81799875 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000722.2 -1 reviewed p.E115D 0.836 359 0% 279 25.4% 0 - benign(0) tolerated(0.89) - HMMPfam_VWA_N PCLO 27445 genome.wustl.edu 37 7 82580373 82580373 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_033026.5 -1 validated p.T3177 0.221 101 0% 106 21.7% 0 - - - - NULL PCLO 27445 genome.wustl.edu 37 7 82584826 82584826 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_033026.5 -1 validated p.R1815* 0.895 620 0% 631 30.9% 0 - - - - NULL PCLO 27445 genome.wustl.edu 37 7 82584919 82584919 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_033026.5 -1 validated p.E1784* 1.000 555 0% 493 29.4% 0 - - - - NULL ABCB1 5243 genome.wustl.edu 37 7 87160739 87160739 + Silent SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000927.3 -1 reviewed p.I852 0.998 386 0% 342 33.3% 0 - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ZNF804B 219578 genome.wustl.edu 37 7 88847582 88847582 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_181646.2 +1 provisional p.I74M 1.000 171 0% 177 19.2% 0 - probably_damaging(0.962) deleterious(0.01) deleterious(0.810) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 ZNF804B 219578 genome.wustl.edu 37 7 88963897 88963897 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_181646.2 +1 provisional p.P534L 0.842 262 0% 183 30.1% 0 - benign(0) tolerated(1) - NULL ZNF804B 219578 genome.wustl.edu 37 7 88964771 88964771 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_181646.2 +1 provisional p.I825 0.000 312 0% 233 30.5% 0 - - - - NULL SAMD9 54809 genome.wustl.edu 37 7 92733273 92733273 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017654.2 -1 validated p.R713I 0.004 459 0% 412 31.8% 0 - benign(0) tolerated(0.13) neutral(0.253) NULL HEPACAM2 253012 genome.wustl.edu 37 7 92848735 92848735 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001039372.1 -1 provisional p.P37S 1.000 202 0% 157 29.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_V-set,superfamily_Immunoglobulin BET1 10282 genome.wustl.edu 37 7 93625485 93625485 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000425626 -1 known p.S98L 0.000 81 0% 82 42.7% 1 0% unknown(0) - - NULL SGCE 8910 genome.wustl.edu 37 7 94232653 94232653 + Silent SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000428696 -1 known p.V246A 1.000 93 0% 69 24.6% 5 20% - - - HMMPfam_Sarcoglycan_2 CYP3A5 1577 genome.wustl.edu 37 7 99247699 99247699 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000777.2 -1 reviewed p.T470 0.661 370 0% 433 12.9% 2 0% - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP3A5 1577 genome.wustl.edu 37 7 99277480 99277480 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000777.2 -1 reviewed p.L14I 0.435 90 0% 93 32.3% 1 0% possibly_damaging(0.681) deleterious(0.01) deleterious(0.649) NULL CYP3A7 1551 genome.wustl.edu 37 7 99293367 99293367 + Nonstop_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000292414 -1 known p.*534R 0.527 54 0% 52 30.8% 0 - - - - NULL ZCWPW1 55063 genome.wustl.edu 37 7 100017499 100017499 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017984.3 -1 validated p.G12 0.838 62 1.6% 88 30.7% 0 - - - - NULL ACHE 43 genome.wustl.edu 37 7 100491567 100491567 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015831.2 -1 reviewed p.F96S 1.000 11 0% 21 38.1% 0 - probably_damaging(0.967) tolerated(0.29) neutral(0.438) HMMPfam_COesterase,superfamily_SSF53474 MUC3A 4584 genome.wustl.edu 37 7 100550885 100550885 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_001725354.2 +1 model p.S489Y 0.001 399 0% 444 14.2% 1 0% - - - NULL MUC17 140453 genome.wustl.edu 37 7 100685023 100685023 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001040105.1 +1 provisional p.I3442 0.001 243 0.4% 363 34.2% 0 - - - - NULL MOGAT3 346606 genome.wustl.edu 37 7 100842054 100842054 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_178176.2 -1 provisional p.H116N 0.991 8 0.000 37 0.378 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DAGAT CUX1 1523 genome.wustl.edu 37 7 101870948 101870948 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_181552.2 +1 reviewed p.L1144 0.625 17 0% 34 41.2% 6 33.3% - - - HMMPfam_CUT SLC26A5 375611 genome.wustl.edu 37 7 103050861 103050861 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_198999.2 -1 reviewed p.R236W 1.000 142 0% 150 23.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Sulfate_transp RELN 5649 genome.wustl.edu 37 7 103205756 103205756 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005045.3 -1 reviewed p.R1727W 1.000 119 0.8% 119 26.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GPR22 2845 genome.wustl.edu 37 7 107114563 107114563 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005295.2 +1 reviewed p.R20* 0.986 201 0% 135 31.9% 0 - - - - superfamily_Family A G protein-coupled receptor-like NRCAM 4897 genome.wustl.edu 37 7 107816942 107816942 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001037132.1 -1 reviewed p.F1028L 0.912 162 0.6% 184 32.6% 0 - benign(0) tolerated(1) - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III NRCAM 4897 genome.wustl.edu 37 7 107825047 107825047 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001037132.1 -1 reviewed p.E683K 1.000 34 0% 54 37% 1 100% possibly_damaging(0.439) deleterious(0.01) deleterious(0.548) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III NRCAM 4897 genome.wustl.edu 37 7 107875081 107875081 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001037132.1 -1 reviewed p.D59G 1.000 167 0% 142 33.8% 1 0% probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin DOCK4 9732 genome.wustl.edu 37 7 111517132 111517132 + Silent SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000445943 -1 known p.P554H 0.953 32 0% 37 40.5% 0 - - - - NULL PPP1R3A 5506 genome.wustl.edu 37 7 113518832 113518832 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002711.3 -1 reviewed p.A772V 1.000 497 0.2% 413 25.7% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL ASZ1 136991 genome.wustl.edu 37 7 117066957 117066957 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_130768.2 -1 validated p.K46N 1.000 220 0% 278 29.1% 0 - benign(0.065) tolerated(0.13) neutral(0.257) HMMSmart_ANK,superfamily_ANK PTPRZ1 5803 genome.wustl.edu 37 7 121653537 121653537 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002851.2 +1 reviewed p.E1479D 0.009 134 0% 165 26.7% 0 - benign(0.287) deleterious(0) deleterious(0.533) NULL AASS 10157 genome.wustl.edu 37 7 121741694 121741694 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005763.3 -1 reviewed p.F440C 1.000 141 0% 114 28.9% 0 - benign(0.008) tolerated(0.15) neutral(0.241) NULL SPAM1 6677 genome.wustl.edu 37 7 123594387 123594387 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003117.4 +1 reviewed p.E255* 0.836 295 0% 210 30% 0 - - - - HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat GPR37 2861 genome.wustl.edu 37 7 124387310 124387310 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005302.2 -1 provisional p.E371K 1.000 106 0% 83 34.9% 1 0% benign(0.144) tolerated(0.28) neutral(0.044) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GCC1 79571 genome.wustl.edu 37 7 127224376 127224376 + Silent SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024523.5 -1 reviewed p.G287 0.989 39 0% 38 28.9% 4 75% - - - NULL CCDC136 64753 genome.wustl.edu 37 7 128441311 128441311 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_022742.3 +1 validated p.E140* 0.979 18 0% 44 47.7% 0 - - - - NULL CPA1 1357 genome.wustl.edu 37 7 130027730 130027730 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001868.2 +1 reviewed p.E380K 1.000 270 0% 414 33.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M14,HMMSmart_Zn_pept,superfamily_SSF53187 CNOT4 4850 genome.wustl.edu 37 7 135098328 135098328 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_013316.2 -1 validated p.F199S 1.000 139 0% 116 31% 2 50% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_SSF54928 DENND2A 27147 genome.wustl.edu 37 7 140221700 140221700 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015689.3 -1 validated p.R956W 1.000 19 0% 42 23.8% 27 22.2% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_dDENN,HMMSmart_SM00801 MGAM 8972 genome.wustl.edu 37 7 141708471 141708471 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004668.2 +1 reviewed p.R98Q 0.982 147 0% 148 25% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Trefoil TRBV10-2 28584 genome.wustl.edu 37 7 142206758 142206758 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000426318 -1 known p.E33* 0.000 189 0% 202 30.2% 0 - - - - HMMPfam_V-set,superfamily_SSF48726 TRBV19 28568 genome.wustl.edu 37 7 142326586 142326586 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000390393 +1 known p.L6F 0.000 191 0% 194 39.7% 0 - benign(0.016) tolerated(0.12) neutral(0.261) NULL TRPV5 56302 genome.wustl.edu 37 7 142612682 142612682 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_019841.4 -1 reviewed p.I393 0.001 97 0% 117 33.3% 0 - - - - NULL TAS2R41 259287 genome.wustl.edu 37 7 143175456 143175456 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_176883.2 +1 provisional p.F164C 0.000 124 0% 138 29% 0 - probably_damaging(0.984) tolerated(0.05) deleterious(0.776) HMMPfam_TAS2R,superfamily_SSF81321 OR2F2 135948 genome.wustl.edu 37 7 143632829 143632829 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001004685.1 +1 provisional p.M168I 0.002 249 0% 185 32.4% 0 - benign(0.016) tolerated(0.09) neutral(0.297) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2A12 346525 genome.wustl.edu 37 7 143792936 143792936 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001004135.1 +1 provisional p.V246M 0.637 478 0% 412 35.4% 0 - benign(0.208) deleterious(0.01) neutral(0.426) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CNTNAP2 26047 genome.wustl.edu 37 7 147815297 147815297 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014141.5 +1 reviewed p.S824Y 1.000 94 0% 125 19.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases C7orf33 202865 genome.wustl.edu 37 7 148311228 148311228 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_145304.2 +1 predicted p.S100Y 0.128 128 0% 168 31.5% 0 - benign(0.347) - - NULL LOC100288724 100288724 genome.wustl.edu 37 7 150311737 150311737 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_002342806.1 -1 model p.A42V 1.000 87 0% 109 15.6% 0 - - - - HMMPfam_Ion_trans MLL3 58508 genome.wustl.edu 37 7 151842291 151842291 + Silent SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_170606.2 -1 reviewed p.G4707 0.999 148 0% 187 33.7% 8 12.5% - - - NULL XRCC2 7516 genome.wustl.edu 37 7 152346093 152346093 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005431.1 -1 reviewed p.R159 0.000 156 0% 221 36.2% 2 100% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases XRCC2 7516 genome.wustl.edu 37 7 152346221 152346221 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005431.1 -1 reviewed p.L117V 0.009 125 0% 161 32.9% 1 100% benign(0.007) tolerated(0.97) - superfamily_P-loop containing nucleoside triphosphate hydrolases HTR5A 3361 genome.wustl.edu 37 7 154863006 154863006 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024012.2 +1 reviewed p.T133A 1.000 13 0% 19 47.4% 0 - benign(0.1) tolerated(0.3) neutral(0.036) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like VIPR2 7434 genome.wustl.edu 37 7 158827282 158827282 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003382.4 -1 validated p.I290S 0.084 10 0% 24 29.2% 0 - benign(0.078) tolerated(0.1) neutral(0.292) HMMPfam_7tm_2,superfamily_SSF81321 DLGAP2 9228 genome.wustl.edu 37 8 1616573 1616573 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004745.3 +1 reviewed p.T550M 1.000 11 0% 13 61.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DLGAP2 9228 genome.wustl.edu 37 8 1624774 1624774 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004745.3 +1 reviewed p.D680N 1.000 7 0.000 13 0.308 0 - benign(0.012) deleterious(0) neutral(0.445) HMMPfam_GKAP MYOM2 9172 genome.wustl.edu 37 8 2021562 2021562 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003970.2 +1 validated p.A368T 1.000 11 0% 20 40% 0 - possibly_damaging(0.8) tolerated(0.21) neutral(0.345) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 CSMD1 64478 genome.wustl.edu 37 8 2800041 2800041 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_033225.5 -1 validated p.F3497L 1.000 21 0% 20 20% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PRSS55 203074 genome.wustl.edu 37 8 10388874 10388874 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_198464.2 +1 validated p.V139 0.002 67 0% 150 32% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases MSR1 4481 genome.wustl.edu 37 8 16012621 16012621 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_138715.2 -1 reviewed p.R284* 0.982 71 0% 73 49.3% 0 - - - - HMMPfam_Collagen VPS37A 137492 genome.wustl.edu 37 8 17123485 17123485 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152415.2 +1 validated p.I65M 1.000 109 0% 105 30.5% 8 62.5% possibly_damaging(0.826) deleterious(0.01) deleterious(0.719) superfamily_UBC-like PDGFRL 5157 genome.wustl.edu 37 8 17486038 17486038 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006207.1 +1 reviewed p.V183A 1.000 200 0% 243 25.5% 5 60% possibly_damaging(0.596) deleterious(0.01) deleterious(0.612) superfamily_Immunoglobulin MTUS1 57509 genome.wustl.edu 37 8 17541987 17541987 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001001924.2 -1 reviewed p.A896 0.001 316 0% 369 16.5% 6 33.3% - - - NULL KIAA1967 57805 genome.wustl.edu 37 8 22464808 22464808 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_021174.4 +1 validated p.H153Y 1.000 27 0% 31 29% 25 52% benign(0.202) tolerated(0.2) neutral(0.069) NULL ADRA1A 148 genome.wustl.edu 37 8 26627684 26627684 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000680.2 -1 reviewed p.E461 1.000 352 0% 435 29.4% 0 - - - - NULL CLU 1191 genome.wustl.edu 37 8 27468106 27468106 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001831.2 -1 reviewed p.D47Y 0.298 32 0% 66 18.2% 64 40.6% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL EXTL3 2137 genome.wustl.edu 37 8 28574253 28574253 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001440.2 +1 provisional p.V226A 0.028 94 0% 134 35.1% 4 75% benign(0.427) tolerated(0.46) neutral(0.151) HMMPfam_Exostosin GTF2E2 2961 genome.wustl.edu 37 8 30469818 30469818 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002095.4 -1 validated p.K183E 1.000 134 0% 176 35.2% 51 47% benign(0.261) tolerated(0.11) neutral(0.299) NULL KCNU1 157855 genome.wustl.edu 37 8 36766981 36766981 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001031836.2 +1 validated p.F753L 0.966 463 0% 367 33% 0 - benign(0.034) tolerated(0.31) neutral(0.029) NULL GINS4 84296 genome.wustl.edu 37 8 41397256 41397256 + Silent SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032336.2 +1 validated p.P119 0.992 76 0% 132 34.1% 11 54.5% - - - HMMPfam_Sld5 AP3M2 10947 genome.wustl.edu 37 8 42015547 42015547 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001134296.1 +1 reviewed p.F121S 1.000 88 0% 130 33.1% 1 0% possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMPfam_Clat_adaptor_s,superfamily_SNARE-like ENSG00000215179 0 genome.wustl.edu 37 8 47885713 47885713 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000399732 -1 known p.N174D 1.000 87 0% 120 42.5% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PRKDC 5591 genome.wustl.edu 37 8 48762032 48762032 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001081640.1 -1 validated p.R2346Q 0.000 169 0% 205 35.1% 1 0% - - - NULL SNAI2 6591 genome.wustl.edu 37 8 49832690 49832690 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003068.3 -1 reviewed p.C130 1.000 113 0.9% 128 30.5% 2 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PXDNL 137902 genome.wustl.edu 37 8 52320932 52320932 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_144651.4 -1 validated p.A1084 0.981 36 0% 46 30.4% 0 - - - - HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases ST18 9705 genome.wustl.edu 37 8 53126781 53126781 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014682.2 -1 validated p.R13C 0.608 140 0% 111 36% 0 - probably_damaging(0.989) deleterious(0.03) deleterious(0.804) NULL RP1 6101 genome.wustl.edu 37 8 55541146 55541146 + Silent SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006269.1 +1 reviewed p.E1568 0.850 151 0% 159 37.1% 0 - - - - NULL C8orf45 157777 genome.wustl.edu 37 8 67796203 67796203 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_173518.4 +1 validated p.I349M 1.000 123 0% 167 30.5% 0 - benign(0.056) deleterious(0.02) neutral(0.387) HMMSmart_SM00350 SULF1 23213 genome.wustl.edu 37 8 70515855 70515855 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001128204.1 +1 validated p.A404V 1.000 111 0% 116 40.5% 5 20% benign(0.001) tolerated(0.64) neutral(0.003) superfamily_Alkaline_phosphatase_core SULF1 23213 genome.wustl.edu 37 8 70550843 70550843 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001128204.1 +1 validated p.F797L 0.977 139 0% 140 30% 14 0% possibly_damaging(0.797) tolerated(0.12) deleterious(0.560) superfamily_Alkaline_phosphatase_core TRAM1 23471 genome.wustl.edu 37 8 71512312 71512312 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014294.5 -1 reviewed p.T43 0.999 71 0% 70 35.7% 39 48.7% - - - NULL TRPA1 8989 genome.wustl.edu 37 8 72948540 72948540 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007332.2 -1 reviewed p.F846L 0.850 143 0% 128 16.4% 0 - benign(0.093) tolerated(1) neutral(0.007) HMMPfam_Ion_trans LOC392232 392232 genome.wustl.edu 37 8 73122081 73122081 + RNA SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XR_037363.2 -1 model NULL 0.863 139 0% 127 30.7% 0 - - - - - ZFHX4 79776 genome.wustl.edu 37 8 77616819 77616819 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024721.4 +1 validated p.F166L 1.000 180 0% 198 34.8% 0 - benign(0.016) - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77767552 77767552 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024721.4 +1 validated p.D2754N 1.000 100 0% 92 22.8% 0 - possibly_damaging(0.887) - - NULL DCAF4L2 138009 genome.wustl.edu 37 8 88885963 88885963 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152418.3 -1 validated p.A79 0.982 126 0% 145 34.5% 0 - - - - superfamily_WD40_like NECAB1 64168 genome.wustl.edu 37 8 91837010 91837010 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_022351.4 +1 validated p.E64* 1.000 9 0.000 8 0.500 0 - - - - HMMSmart_SM00054,superfamily_EF-hand C8orf38 137682 genome.wustl.edu 37 8 96047721 96047721 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152416.2 +1 reviewed p.R113* 1.000 114 0% 127 35.4% 9 11.1% - - - HMMPfam_SQS_PSY,superfamily_Terpenoid synthases VPS13B 157680 genome.wustl.edu 37 8 100168838 100168838 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017890.3 +1 reviewed p.R692Q 1.000 212 0% 227 30.8% 0 - benign(0.001) tolerated(0.88) - NULL VPS13B 157680 genome.wustl.edu 37 8 100654319 100654319 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017890.3 +1 reviewed p.S1859L 0.002 243 0% 173 31.8% 0 - benign(0) tolerated(0.69) neutral(0.002) NULL RIMS2 9699 genome.wustl.edu 37 8 104928761 104928761 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001100117.1 +1 validated p.I678V 1.000 98 0% 85 37.6% 0 - benign(0.253) tolerated(0.09) neutral(0.323) HMMSmart_SM00228,superfamily_PDZ domain-like RIMS2 9699 genome.wustl.edu 37 8 105263357 105263357 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001100117.1 +1 validated p.S1266Y 1.000 100 0% 112 24.1% 0 - benign(0.323) tolerated(0.32) neutral(0.125) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) LRP12 29967 genome.wustl.edu 37 8 105509746 105509746 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_013437.4 -1 reviewed p.S345Y 1.000 125 0% 149 37.6% 1 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain ABRA 137735 genome.wustl.edu 37 8 107781936 107781936 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_139166.4 -1 validated p.R161 0.997 196 0% 212 30.2% 0 - - - - NULL ANGPT1 284 genome.wustl.edu 37 8 108348480 108348480 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001146.3 -1 reviewed p.R158Q 1.000 95 0% 107 43% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL TMEM74 157753 genome.wustl.edu 37 8 109797216 109797216 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_153015.1 -1 provisional p.A38T 0.998 102 0% 94 37.2% 2 100% benign(0) tolerated(0.16) neutral(0.059) NULL CSMD3 114788 genome.wustl.edu 37 8 113326673 113326673 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_198123.1 -1 validated p.L2512I 1.000 207 0% 144 29.9% 0 - probably_damaging(0.987) tolerated(0.2) deleterious(0.485) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 113529263 113529263 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_198123.1 -1 validated p.A1586S 1.000 236 0% 156 19.2% 0 - probably_damaging(0.971) deleterious(0.02) deleterious(0.796) superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain SLC30A8 169026 genome.wustl.edu 37 8 118183386 118183386 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_173851.2 +1 reviewed p.L315I 1.000 192 0% 139 36% 0 - probably_damaging(0.966) tolerated(0.07) deleterious(0.727) HMMPfam_Cation_efflux TAF2 6873 genome.wustl.edu 37 8 120768345 120768345 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003184.3 -1 reviewed p.L927I 1.000 128 0% 103 25.2% 11 54.5% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL WDR67 93594 genome.wustl.edu 37 8 124121587 124121587 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_145647.3 +1 validated p.R414C 1.000 168 0% 150 33.3% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ATAD2 29028 genome.wustl.edu 37 8 124383979 124383979 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014109.3 -1 reviewed p.R156Q 1.000 77 0% 83 33.7% 2 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FER1L6 654463 genome.wustl.edu 37 8 124998335 124998335 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001039112.2 +1 validated p.L480V 0.997 160 0% 218 38.1% 0 - benign(0.003) tolerated(0.15) neutral(0.241) NULL TRIB1 10221 genome.wustl.edu 37 8 126445587 126445587 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_025195.2 +1 validated p.K130T 1.000 94 0% 232 28.4% 6 50% benign(0.007) tolerated(0.42) neutral(0.014) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) TRIB1 10221 genome.wustl.edu 37 8 126448487 126448487 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_025195.2 +1 validated p.R298H 0.999 84 0% 135 21.5% 10 10% probably_damaging(0.999) tolerated(0.19) deleterious(0.540) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ADCY8 114 genome.wustl.edu 37 8 131795963 131795963 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001115.2 -1 reviewed p.S1081* 1.000 66 0% 64 29.7% 0 - - - - HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase LRRC6 23639 genome.wustl.edu 37 8 133645194 133645194 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_012472.3 -1 provisional p.E149* 1.000 194 0% 177 33.9% 3 0% - - - superfamily_Outer arm dynein light chain 1 TG 7038 genome.wustl.edu 37 8 133953739 133953739 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003235.4 +1 reviewed p.D1729N 1.000 139 0% 301 20.9% 0 - possibly_damaging(0.836) deleterious(0.01) deleterious(0.725) NULL ZNF250 58500 genome.wustl.edu 37 8 146108178 146108178 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_021061.3 -1 validated p.P135 0.163 87 0% 172 33.7% 1 0% - - - NULL ZNF252 286101 genome.wustl.edu 37 8 146202799 146202799 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000355436 -1 known p.R371Q 0.000 43 0% 44 40.9% 2 50% benign(0.362) deleterious(0.02) deleterious(0.498) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 RFX3 5991 genome.wustl.edu 37 9 3247980 3247980 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002919.2 -1 reviewed p.E674* 0.025 224 0% 199 35.7% 0 - - - - NULL KIAA1432 57589 genome.wustl.edu 37 9 5720745 5720745 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020829.2 +1 validated p.A160T 1.000 501 0% 521 16.1% 2 0% benign(0.002) tolerated(0.65) neutral(0.003) NULL RANBP6 26953 genome.wustl.edu 37 9 6012762 6012762 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_012416.2 -1 validated p.R949H 1.000 91 0% 100 23% 10 80% probably_damaging(0.985) tolerated(0.07) deleterious(0.751) NULL RANBP6 26953 genome.wustl.edu 37 9 6013866 6013866 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_012416.2 -1 validated p.F581C 1.000 147 0% 212 35.8% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM-type_fold MPDZ 8777 genome.wustl.edu 37 9 13168518 13168518 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003829.3 -1 validated p.R1034Q 1.000 512 0% 497 30.8% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like FREM1 158326 genome.wustl.edu 37 9 14784483 14784483 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_144966.5 -1 reviewed p.E1443K 0.997 69 0% 72 29.2% 2 0% probably_damaging(0.966) deleterious(0.01) deleterious(0.814) NULL FREM1 158326 genome.wustl.edu 37 9 14819281 14819281 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_144966.5 -1 reviewed p.N833H 0.020 97 0% 105 32.4% 0 - benign(0.007) tolerated(0.14) neutral(0.249) NULL SNAPC3 6619 genome.wustl.edu 37 9 15447168 15447168 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001039697.1 +1 validated p.R220* 1.000 502 0% 518 32.8% 16 6.2% - - - NULL C9orf93 203238 genome.wustl.edu 37 9 15744567 15744567 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_173550.2 +1 predicted p.K782N 0.997 379 0% 328 34.5% 1 0% possibly_damaging(0.605) tolerated(0.1) deleterious(0.496) NULL KIAA1797 54914 genome.wustl.edu 37 9 20948333 20948333 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017794.3 +1 validated p.K1247Q 1.000 163 0% 160 10.6% 8 0% probably_damaging(0.971) tolerated(0.18) deleterious(0.469) superfamily_ARM-type_fold IFNA14 3448 genome.wustl.edu 37 9 21239397 21239397 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002172.2 -1 validated p.N180H 0.003 626 0% 632 29.1% 0 - benign(0.01) tolerated(0.09) neutral(0.297) HMMPfam_Interferon,superfamily_4_helix_cytokine CDKN2A 1029 genome.wustl.edu 37 9 21970980 21970980 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000077.3 -1 reviewed p.V126 0.013 24 0% 31 35.5% 7 42.8% - - - superfamily_Ankyrin repeat C9orf82 79886 genome.wustl.edu 37 9 26886162 26886162 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024828.3 -1 validated p.K177Q 1.000 52 0% 28 28.6% 2 0% possibly_damaging(0.795) tolerated(0.29) neutral(0.328) NULL C9orf82 79886 genome.wustl.edu 37 9 26887478 26887478 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024828.3 -1 validated p.E113* 1.000 35 0% 60 25% 2 0% - - - NULL PLAA 9373 genome.wustl.edu 37 9 26905614 26905614 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001031689.2 -1 validated p.Q761H 0.982 114 0% 116 26.7% 46 50% benign(0.234) tolerated(0.08) neutral(0.324) HMMPfam_PUL,superfamily_ARM-type_fold IFNK 56832 genome.wustl.edu 37 9 27524857 27524857 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020124.2 +1 reviewed p.E175* 0.992 149 0% 165 29.7% 0 - - - - HMMPfam_Interferon,HMMSmart_SM00076,PatternScan_INTERFERON_A_B_D,superfamily_4-helical cytokines LINGO2 158038 genome.wustl.edu 37 9 27950498 27950498 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152570.1 -1 provisional p.E58K 1.000 272 0.4% 212 31.1% 0 - possibly_damaging(0.883) deleterious(0.04) deleterious(0.694) HMMSmart_LRRNT,superfamily_SSF52058 TAF1L 138474 genome.wustl.edu 37 9 32631331 32631331 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_153809.2 -1 provisional p.R1416K 1.000 431 0% 516 33.5% 0 - possibly_damaging(0.936) tolerated(0.29) neutral(0.411) HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain ARID3C 138715 genome.wustl.edu 37 9 34622032 34622032 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001017363.1 -1 reviewed p.G375W 1.000 47 0% 94 35.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1045 23349 genome.wustl.edu 37 9 34971317 34971317 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015297.1 +1 validated p.R8W 1.000 66 0% 85 35.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FANCG 2189 genome.wustl.edu 37 9 35077266 35077266 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004629.1 -1 reviewed p.R214H 0.994 95 0% 152 31.6% 17 29.4% benign(0.274) tolerated(0.09) neutral(0.326) superfamily_TPR-like RGP1 9827 genome.wustl.edu 37 9 35752005 35752005 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001080496.1 +1 provisional p.R312Q 0.995 22 0% 65 43.1% 7 71.4% probably_damaging(0.968) tolerated(0.61) neutral(0.414) HMMPfam_Rgp1 CNTNAP3 79937 genome.wustl.edu 37 9 39171504 39171504 + Nonsense_Mutation SNP G G A rs1693027 byCluster TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_033655.3 -1 reviewed p.R399* 1.000 150 0% 123 22.8% 1 0% - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 FAM74A3 728495 genome.wustl.edu 37 9 40715655 40715655 + RNA SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NR_026801.1 +1 predicted NULL 0.422 19 0% 19 31.6% 0 - - - - - FAM75A6 389730 genome.wustl.edu 37 9 43627781 43627781 + Silent SNP A A T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001145196.1 -1 predicted p.L302 0.001 149 0% 303 19.1% 0 - - - - NULL LOC100288765 100288765 genome.wustl.edu 37 9 69830400 69830400 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_002342925.1 +1 model p.R9I 0.241 123 0% 194 10.3% 0 - - - - NULL APBA1 320 genome.wustl.edu 37 9 72082853 72082853 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001163.3 -1 reviewed p.I456 1.000 110 0% 173 16.8% 0 - - - - HMMSmart_PTB,superfamily_SSF50729 TMEM2 23670 genome.wustl.edu 37 9 74340530 74340530 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_013390.2 -1 validated p.I715M 0.998 210 0% 246 28.9% 0 - benign(0.006) tolerated(0.1) neutral(0.286) superfamily_Pectin lyase-like GCNT1 2650 genome.wustl.edu 37 9 79117571 79117571 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001097633.1 +1 reviewed p.D92N 0.958 177 0% 144 23.6% 6 50% possibly_damaging(0.466) tolerated(0.33) neutral(0.177) NULL VPS13A 23230 genome.wustl.edu 37 9 79896809 79896809 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_033305.2 +1 reviewed p.K977N 0.389 79 0% 75 33.3% 1 100% benign(0.01) tolerated(0.53) neutral(0.008) NULL FAM75D1 389763 genome.wustl.edu 37 9 84608839 84608839 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001001670.2 +1 validated p.A1152S 0.001 120 0% 154 12.3% 0 - benign(0.008) tolerated(0.59) neutral(0.004) NULL RASEF 158158 genome.wustl.edu 37 9 85613321 85613321 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152573.2 -1 provisional p.E588 0.494 277 0% 331 30.2% 1 0% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF27 55582 genome.wustl.edu 37 9 86482758 86482758 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017576.1 -1 provisional p.K925N 1.000 71 0% 92 29.3% 4 50% possibly_damaging(0.739) deleterious(0) deleterious(0.715) NULL KIF27 55582 genome.wustl.edu 37 9 86502079 86502079 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017576.1 -1 provisional p.E706* 0.604 70 0% 69 15.9% 1 0% - - - NULL FAM75C1 441452 genome.wustl.edu 37 9 90536920 90536920 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001145124.1 +1 validated p.E700K 0.014 121 0% 292 14.4% 0 - - - - NULL ZNF782 158431 genome.wustl.edu 37 9 99581129 99581129 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001001662.1 -1 provisional p.K392N 1.000 465 0% 514 32.1% 2 50% benign(0.284) deleterious(0) deleterious(0.531) superfamily_C2H2 and C2HC zinc fingers ZNF322P1 387328 genome.wustl.edu 37 9 99961776 99961776 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_199005.1 -1 validated p.E6D 0.971 464 0% 493 17.8% 0 - probably_damaging(0.983) tolerated(0.36) neutral(0.449) NULL TSTD2 158427 genome.wustl.edu 37 9 100368496 100368496 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_139246.4 -1 validated p.L295V 0.999 76 0% 126 35.7% 0 - benign(0.022) tolerated(0.46) neutral(0.013) HMMPfam_Rhodanese,HMMSmart_SM00450,superfamily_Rhodanese/Cell cycle control phosphatase NCBP1 4686 genome.wustl.edu 37 9 100410468 100410468 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002486.4 +1 reviewed p.V287A 1.000 82 0% 77 35.1% 8 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM-type_fold NANS 54187 genome.wustl.edu 37 9 100845273 100845273 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018946.3 +1 reviewed p.V339A 0.168 46 0% 57 31.6% 447 49.2% benign(0.317) deleterious(0.01) deleterious(0.505) superfamily_AFP III-like domain (Pfam 01354),HMMPfam_SAF TEX10 54881 genome.wustl.edu 37 9 103090176 103090176 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017746.3 -1 validated p.R565Q 1.000 173 0% 127 25.2% 27 40.7% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) NULL OR13C3 138803 genome.wustl.edu 37 9 107298109 107298109 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001001961.1 -1 provisional p.R329I 1.000 266 0% 265 28.7% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_SSF81321 ABCA1 19 genome.wustl.edu 37 9 107645350 107645350 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005502.2 -1 reviewed p.T131A 0.013 139 0% 139 22.3% 3 66.6% benign(0) tolerated(0.5) neutral(0.010) NULL RAD23B 5887 genome.wustl.edu 37 9 110062463 110062463 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002874.3 +1 reviewed p.K36N 1.000 118 0% 104 37.5% 32 59.3% benign(0.008) tolerated(0.24) neutral(0.037) HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like OR2K2 26248 genome.wustl.edu 37 9 114090248 114090248 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_205859.1 -1 provisional p.A156T 0.064 192 0% 156 32.7% 0 - benign(0.229) deleterious(0.04) neutral(0.372) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SUSD1 64420 genome.wustl.edu 37 9 114874078 114874078 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000374263 -1 known p.R343C 0.974 71 0% 136 33.8% 10 70% benign(0.118) deleterious(0.01) neutral(0.415) NULL PTGS1 5742 genome.wustl.edu 37 9 125148756 125148756 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000962.2 +1 reviewed p.Y347 0.875 77 0% 134 30.6% 25 52% - - - HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases OR5C1 392391 genome.wustl.edu 37 9 125551633 125551633 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001001923.1 +1 provisional p.S141L 1.000 111 0% 171 26.9% 0 - probably_damaging(0.958) deleterious(0) deleterious(0.846) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RABGAP1 23637 genome.wustl.edu 37 9 125838991 125838991 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_012197.3 +1 validated p.R792C 1.000 116 0% 152 34.9% 5 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Ypt/Rab-GAP domain of gyp1p LRSAM1 90678 genome.wustl.edu 37 9 130217327 130217327 + Silent SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001005373.1 +1 validated p.L41 1.000 34 0% 76 38.2% 3 33.3% - - - superfamily_L domain-like TMSB4XP4 7118 genome.wustl.edu 37 9 131104549 131104549 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000323496 +1 known p.F13 1.000 22 0% 25 28% 2 0% - - - HMMPfam_Thymosin,HMMSmart_THY ABL1 25 genome.wustl.edu 37 9 133729585 133729585 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007313.2 +1 reviewed p.F91V 1.000 179 0% 271 31.7% 2 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain NTNG2 84628 genome.wustl.edu 37 9 135114519 135114519 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032536.2 +1 validated p.R361 1.000 10 0% 28 39.3% 0 - - - - HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin SETX 23064 genome.wustl.edu 37 9 135176062 135176062 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015046.5 -1 reviewed p.E1835K 0.385 205 0% 302 10.9% 2 0% benign(0.344) tolerated(0.29) neutral(0.138) NULL SETX 23064 genome.wustl.edu 37 9 135202168 135202168 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015046.5 -1 reviewed p.R1606Q 0.998 353 0.3% 402 17.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SARDH 1757 genome.wustl.edu 37 9 136529114 136529114 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001134707.1 -1 reviewed p.S885N 1.000 16 0% 55 27.3% 1 0% benign(0.003) tolerated(0.27) neutral(0.034) superfamily_SSF101790 VAV2 7410 genome.wustl.edu 37 9 136637093 136637093 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001134398.1 -1 reviewed p.F737 0.992 43 0% 99 36.4% 26 46.1% - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain KCNT1 57582 genome.wustl.edu 37 9 138651597 138651597 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020822.2 +1 validated p.I309 1.000 4 0.000 17 0.412 0 - - - - HMMPfam_Ion_trans_2,superfamily_SSF81324 WDR37 22884 genome.wustl.edu 37 10 1123910 1123910 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014023.3 +1 reviewed p.E68* 1.000 78 0% 130 31.5% 0 - - - - NULL PITRM1 10531 genome.wustl.edu 37 10 3207618 3207618 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014889.2 -1 validated p.E174K 1.000 35 0% 73 13.7% 8 12.5% benign(0.065) tolerated(0.61) neutral(0.009) superfamily_LuxS/MPP-like metallohydrolase SFMBT2 57713 genome.wustl.edu 37 10 7230654 7230654 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001029880.1 -1 provisional p.R580 1.000 51 0% 101 31.7% 0 - - - - NULL SEPHS1 22929 genome.wustl.edu 37 10 13386914 13386914 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_012247.3 -1 reviewed p.E13K 1.000 102 0% 84 21.4% 34 50% benign(0.139) tolerated(0.06) neutral(0.335) NULL HSPA14 51182 genome.wustl.edu 37 10 14890638 14890638 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000441647 +1 known p.S73L 0.787 50 0% 67 29.9% 4 75% - - - HMMPfam_HSP70,superfamily_Actin-like ATPase domain FAM188A 80013 genome.wustl.edu 37 10 15879309 15879309 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024948.2 -1 validated p.S157L 1.000 335 0% 261 29.5% 5 20% benign(0.006) tolerated(0.21) neutral(0.044) NULL TRDMT1 1787 genome.wustl.edu 37 10 17199651 17199651 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004412.5 -1 reviewed p.D226Y 0.997 101 0% 93 33.3% 3 33.3% possibly_damaging(0.44) deleterious(0.02) deleterious(0.526) superfamily_S-adenosyl-L-methionine-dependent methyltransferases MRC1 4360 genome.wustl.edu 37 10 17917129 17917129 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001009567.1 +1 reviewed p.V805A 1.000 117 0% 118 30.5% 0 - possibly_damaging(0.935) deleterious(0.01) deleterious(0.786) HMMSmart_SM00034,superfamily_C-type lectin-like SLC39A12 221074 genome.wustl.edu 37 10 18250573 18250573 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001145195.1 +1 validated p.E109* 1.000 209 0% 237 28.7% 0 - - - - NULL GAD2 2572 genome.wustl.edu 37 10 26513546 26513546 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000818.2 +1 reviewed p.W230* 1.000 92 0% 106 28.3% 0 - - - - HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases APBB1IP 54518 genome.wustl.edu 37 10 26789913 26789913 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_019043.3 +1 validated p.S109Y 0.003 194 0% 240 30% 2 0% possibly_damaging(0.679) deleterious(0) deleterious(0.686) NULL APBB1IP 54518 genome.wustl.edu 37 10 26822424 26822424 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_019043.3 +1 validated p.M290I 1.000 26 0% 33 27.3% 0 - benign(0.307) tolerated(0.24) neutral(0.133) NULL PDSS1 23590 genome.wustl.edu 37 10 27012809 27012809 + Silent SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014317.3 +1 reviewed p.I228 0.998 121 0% 160 18.1% 10 10% - - - HMMPfam_polyprenyl_synt,superfamily_Terpenoid synthases RAB18 22931 genome.wustl.edu 37 10 27793920 27793920 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000423465 +1 known p.R40I 0.254 76 0% 107 31.8% 0 - - - - NULL ARMC4 55130 genome.wustl.edu 37 10 28229653 28229653 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018076.2 -1 validated p.R609C 1.000 122 0% 115 40% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00185,superfamily_ARM repeat LYZL2 119180 genome.wustl.edu 37 10 30915043 30915043 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_183058.2 -1 validated p.A143T 0.984 87 0% 118 26.3% 0 - benign(0.382) tolerated(0.35) neutral(0.142) HMMPfam_Lys,HMMSmart_LYZ1,PatternScan_LACTALBUMIN_LYSOZYME_1,superfamily_SSF53955 KIF5B 3799 genome.wustl.edu 37 10 32324588 32324588 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004521.2 -1 validated p.V275A 1.000 109 0% 120 33.3% 9 77.7% possibly_damaging(0.456) deleterious(0) deleterious(0.594) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 CCDC7 221016 genome.wustl.edu 37 10 32740748 32740748 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001026383.1 +1 validated p.E60* 1.000 92 0% 99 20.2% 2 0% - - - NULL C10orf68 79741 genome.wustl.edu 37 10 32974982 32974982 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024688.2 +1 validated p.E43A 0.000 81 0% 125 31.2% 1 100% possibly_damaging(0.666) tolerated(0.06) deleterious(0.558) NULL CUL2 8453 genome.wustl.edu 37 10 35333532 35333532 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003591.2 -1 provisional p.L226V 1.000 101 0% 141 33.3% 4 25% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_Cullin,superfamily_Cullin repeat CREM 1390 genome.wustl.edu 37 10 35467886 35467886 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_181571.1 +1 reviewed p.E80* 1.000 58 0% 50 16% 12 0% - - - HMMPfam_pKID NAMPTL 646309 genome.wustl.edu 37 10 36812683 36812683 + Silent SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000440465 -1 known p.T160 0.956 92 0% 113 14.2% 14 0% - - - NULL ANKRD30A 91074 genome.wustl.edu 37 10 37508274 37508274 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_052997.2 +1 validated p.I1156L 0.001 361 0% 226 35.4% 0 - benign(0.005) deleterious(0.02) neutral(0.383) NULL RET 5979 genome.wustl.edu 37 10 43606666 43606666 + Silent SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020975.4 +1 reviewed p.V425 0.998 5 0.000 40 0.275 0 - - - - NULL ZNF485 220992 genome.wustl.edu 37 10 44112108 44112108 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_145312.3 +1 validated p.R206I 1.000 85 0% 119 16% 0 - benign(0.179) tolerated(0.06) neutral(0.339) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 RASSF4 83937 genome.wustl.edu 37 10 45485142 45485142 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032023.3 +1 reviewed p.A220T 1.000 20 0% 39 28.2% 13 69.2% benign(0.015) deleterious(0.01) neutral(0.406) HMMPfam_RA,HMMSmart_SM00314 ZNF22 7570 genome.wustl.edu 37 10 45498900 45498900 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006963.4 +1 validated p.R28 0.679 68 0% 55 32.7% 24 58.3% - - - NULL ZFAND4 93550 genome.wustl.edu 37 10 46113631 46113631 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001128324.1 -1 validated p.L669I 1.000 103 0% 144 26.4% 10 60% benign(0.043) tolerated(0.06) neutral(0.325) HMMPfam_zf-AN1,HMMSmart_SM00154 FAM21C 253725 genome.wustl.edu 37 10 46280278 46280278 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015262.2 +1 validated p.P871S 0.786 598 0.2% 720 24.6% 4 75% benign(0.076) deleterious(0.02) neutral(0.389) NULL PPYR1 5540 genome.wustl.edu 37 10 47086862 47086862 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005972.4 +1 validated p.P27T 0.001 134 0% 292 16.4% 0 - benign(0.077) tolerated(0.43) neutral(0.019) superfamily_Family A G protein-coupled receptor-like FRMPD2 143162 genome.wustl.edu 37 10 49459707 49459707 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001018071.3 -1 reviewed p.A18D 1.000 58 0% 72 30.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00750 MAPK8 5599 genome.wustl.edu 37 10 49617972 49617972 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_139047.1 +1 reviewed p.F101L 1.000 317 0% 327 33.3% 11 81.8% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_MAPK,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase AGAP7 653268 genome.wustl.edu 37 10 51464676 51464676 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001077685.1 -1 provisional p.E594K 1.000 80 0% 111 19.8% 3 0% probably_damaging(0.99) tolerated(0.72) neutral(0.443) superfamily_ANK FAM13C 220965 genome.wustl.edu 37 10 61007423 61007423 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001143773.1 -1 validated p.R487K 1.000 296 0% 254 32.7% 1 0% probably_damaging(0.988) tolerated(0.15) deleterious(0.678) NULL ANK3 288 genome.wustl.edu 37 10 61835108 61835108 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020987.2 -1 reviewed p.S1844* 1.000 269 0% 260 33.8% 0 - - - - NULL ANK3 288 genome.wustl.edu 37 10 61994479 61994479 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020987.2 -1 reviewed p.L288 0.995 59 0% 66 21.2% 1 100% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ARID5B 84159 genome.wustl.edu 37 10 63845621 63845621 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032199.2 +1 validated p.E454* 1.000 504 0% 629 30.8% 5 20% - - - NULL ARID5B 84159 genome.wustl.edu 37 10 63850777 63850777 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032199.2 +1 validated p.E519K 0.002 182 0% 229 35.8% 4 0% benign(0.01) tolerated(0.41) neutral(0.015) NULL RTKN2 219790 genome.wustl.edu 37 10 64022544 64022544 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_145307.2 -1 provisional p.R33* 1.000 104 0% 93 29% 4 0% - - - HMMSmart_SM00742 DNA2 1763 genome.wustl.edu 37 10 70182086 70182086 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001080449.1 -1 provisional p.D951N 0.002 73 0% 84 28.6% 6 33.3% benign(0.001) tolerated(0.41) neutral(0.015) superfamily_P-loop containing nucleoside triphosphate hydrolases DNA2 1763 genome.wustl.edu 37 10 70225470 70225470 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001080449.1 -1 provisional p.E267K 1.000 35 0% 84 33.3% 2 50% benign(0.021) tolerated(0.39) neutral(0.017) HMMPfam_Dna2 STOX1 219736 genome.wustl.edu 37 10 70641809 70641809 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001130161.2 +1 reviewed p.A136T 0.997 169 0% 247 32.4% 1 0% benign(0.001) tolerated(0.46) neutral(0.012) HMMPfam_Stork_head SUPV3L1 6832 genome.wustl.edu 37 10 70947501 70947501 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003171.3 +1 provisional p.I187M 0.991 40 0% 62 22.6% 11 36.3% benign(0.055) tolerated(0.11) neutral(0.275) superfamily_SSF52540 PPP3CB 5532 genome.wustl.edu 37 10 75231282 75231282 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001142353.1 -1 validated p.L205I 1.000 217 0% 198 37.4% 10 30% benign(0.164) tolerated(0.08) neutral(0.315) HMMPfam_Metallophos,HMMSmart_PP2Ac,superfamily_SSF56300 DLG5 9231 genome.wustl.edu 37 10 79576335 79576335 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004747.3 -1 reviewed p.A1333 0.012 24 0% 43 46.5% 19 42.1% - - - superfamily_PDZ domain-like GHITM 27069 genome.wustl.edu 37 10 85909925 85909925 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014394.2 +1 validated p.A236V 0.997 128 0% 102 32.4% 229 44.5% possibly_damaging(0.794) deleterious(0) deleterious(0.742) HMMPfam_UPF0005 LDB3 11155 genome.wustl.edu 37 10 88477859 88477859 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007078.2 +1 reviewed p.F605L 1.000 33 0% 70 21.4% 1 100% possibly_damaging(0.946) tolerated(0.14) deleterious(0.639) HMMPfam_LIM,superfamily_Glucocorticoid receptor-like (DNA-binding domain) PTEN 5728 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A rs121913292 TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000371953 +1 known p.R130Q 1.000 369 0% 299 39.1% 13 38.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89717672 89717672 + Nonsense_Mutation SNP C C T rs121909219 byCluster TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000371953 +1 known p.R233* 0.984 360 0% 293 34.1% 45 11.1% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 LIPA 3988 genome.wustl.edu 37 10 91005432 91005432 + Splice_Site SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000235.2 -1 reviewed e2+1 0.996 99 0% 132 27.3% 0 - - - - - KIF20B 9585 genome.wustl.edu 37 10 91497657 91497657 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016195.2 +1 validated p.N980T 0.016 321 0% 259 30.9% 2 0% benign(0.135) tolerated(0.17) neutral(0.070) NULL RPP30 10556 genome.wustl.edu 37 10 92660427 92660427 + Splice_Site SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001104546.1 +1 validated e11+2 1.000 283 0% 235 11.5% 95 16.8% - - - - ANKRD1 27063 genome.wustl.edu 37 10 92675581 92675581 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014391.2 -1 reviewed p.E236 1.000 58 0% 50 36% 14 0% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK BTAF1 9044 genome.wustl.edu 37 10 93695422 93695422 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003972.2 +1 validated p.R8H 1.000 127 0% 139 38.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat PLCE1 51196 genome.wustl.edu 37 10 96030304 96030304 + Missense_Mutation SNP C C T rs121912605 TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016341.3 +1 reviewed p.S1484L 1.000 123 0% 170 34.1% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI-PLC-X,HMMSmart_SM00148,superfamily_PLC-like phosphodiesterases COX15 1355 genome.wustl.edu 37 10 101483779 101483779 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_078470.4 -1 reviewed p.G228 0.864 175 0% 209 39.2% 24 41.6% - - - HMMPfam_COX15-CtaA ABCC2 1244 genome.wustl.edu 37 10 101590170 101590170 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000392.3 +1 reviewed p.F909L 0.967 95 0% 123 14.6% 0 - benign(0) tolerated(1) - NULL PKD2L1 9033 genome.wustl.edu 37 10 102089040 102089040 + Silent SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016112.2 -1 reviewed p.R93 1.000 42 0% 93 19.4% 0 - - - - NULL PPRC1 23082 genome.wustl.edu 37 10 103909051 103909051 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015062.3 +1 reviewed p.R1619Q 1.000 50 0% 85 29.4% 97 49.4% probably_damaging(0.977) deleterious(0.04) deleterious(0.768) NULL ELOVL3 83401 genome.wustl.edu 37 10 103988814 103988814 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152310.1 +1 provisional p.Q206 1.000 26 0% 57 12.3% 1 0% - - - HMMPfam_ELO OBFC1 79991 genome.wustl.edu 37 10 105648830 105648830 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024928.4 -1 validated p.H317Y 0.997 61 0% 95 18.9% 52 42.3% benign(0.005) tolerated(0.45) neutral(0.012) HMMPfam_DUF1879 WDR96 80217 genome.wustl.edu 37 10 105932175 105932175 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_025145.5 -1 provisional p.V860G 1.000 171 0% 207 24.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like CCDC147 159686 genome.wustl.edu 37 10 106160580 106160580 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001008723.1 +1 validated p.R653K 1.000 155 0% 154 37.7% 0 - benign(0.163) tolerated(0.17) neutral(0.073) NULL SORCS1 114815 genome.wustl.edu 37 10 108339212 108339212 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001013031.1 -1 reviewed p.P1096S 0.974 127 0% 182 27.5% 1 0% benign(0.001) tolerated(0.23) neutral(0.042) NULL SORCS1 114815 genome.wustl.edu 37 10 108459026 108459026 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001013031.1 -1 reviewed p.E453 1.000 91 0% 84 23.8% 0 - - - - HMMSmart_VPS10,superfamily_SSF110296 PDCD4 27250 genome.wustl.edu 37 10 112657809 112657809 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014456.3 +1 reviewed p.E458G 1.000 243 0.4% 191 33% 118 38.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SHOC2 8036 genome.wustl.edu 37 10 112769007 112769007 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007373.3 +1 reviewed p.V429A 1.000 77 0% 74 13.5% 2 0% benign(0.101) deleterious(0.05) neutral(0.353) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like FAM160B1 57700 genome.wustl.edu 37 10 116621012 116621012 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020940.3 +1 validated p.R704Q 1.000 127 0% 134 29.9% 6 16.6% probably_damaging(0.989) deleterious(0.01) deleterious(0.845) NULL PNLIP 5406 genome.wustl.edu 37 10 118313334 118313334 + Silent SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000936.2 +1 reviewed p.T185 0.000 27 0% 31 25.8% 0 - - - - HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases SEC23IP 11196 genome.wustl.edu 37 10 121658165 121658165 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007190.2 +1 reviewed p.S130 0.000 419 0.2% 537 28.5% 4 25% - - - NULL SEC23IP 11196 genome.wustl.edu 37 10 121685667 121685667 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007190.2 +1 reviewed p.R747 1.000 162 0% 149 32.9% 12 33.3% - - - NULL FANK1 92565 genome.wustl.edu 37 10 127697100 127697100 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_145235.3 +1 validated p.N277T 1.000 87 0% 105 24.8% 41 58.5% benign(0.044) tolerated(0.35) neutral(0.023) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat NPS 594857 genome.wustl.edu 37 10 129350873 129350873 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001030013.1 +1 provisional p.K80N 1.000 224 0% 248 27.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL EBF3 253738 genome.wustl.edu 37 10 131671739 131671739 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000355311 -1 known p.T253M 1.000 41 0% 68 48.5% 0 - possibly_damaging(0.648) tolerated(0.06) deleterious(0.550) NULL ATHL1 80162 genome.wustl.edu 37 11 292645 292645 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_025092.4 +1 validated p.L376V 0.061 4 0.000 9 0.556 29 44.8% possibly_damaging(0.736) deleterious(0.01) deleterious(0.675) HMMPfam_Glyco_hydro_65m,superfamily_Six-hairpin glycosidases MUC5B 727897 genome.wustl.edu 37 11 1263423 1263423 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002458.1 +1 validated p.P1774 0.000 13 0% 45 35.6% 2 100% - - - NULL MUC5B 727897 genome.wustl.edu 37 11 1267606 1267606 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002458.1 +1 validated p.E3169* 0.000 30 0% 67 40.3% 7 14.2% - - - NULL MUC5B 727897 genome.wustl.edu 37 11 1271044 1271044 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002458.1 +1 validated p.T4315A 0.001 36 0% 67 31.3% 6 66.6% unknown(0) - - NULL NAP1L4 4676 genome.wustl.edu 37 11 2993340 2993340 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005969.3 -1 reviewed p.F103V 1.000 168 0% 215 29.8% 74 50% benign(0.08) tolerated(0.1) neutral(0.292) HMMPfam_NAP RHOG 391 genome.wustl.edu 37 11 3849290 3849290 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001665.3 -1 validated p.A27T 0.995 22 0% 64 25% 72 44.4% benign(0.003) deleterious(0.01) neutral(0.406) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases OR52R1 119695 genome.wustl.edu 37 11 4825161 4825161 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001005177.3 -1 validated p.I229 0.000 162 0% 173 34.1% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51Q1 390061 genome.wustl.edu 37 11 5443786 5443786 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001004757.2 +1 validated p.A119V 1.000 455 0% 458 33% 0 - probably_damaging(0.991) deleterious(0.05) deleterious(0.789) HMMPfam_7tm_1,superfamily_SSF81321 TRIM5 85363 genome.wustl.edu 37 11 5701172 5701172 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_033034.2 -1 reviewed p.K79T 0.984 137 0% 182 30.8% 9 33.3% benign(0.055) deleterious(0) neutral(0.448) superfamily_RING/U-box OR52N1 79473 genome.wustl.edu 37 11 5809120 5809120 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001001913.1 -1 provisional p.F309L 0.369 338 0% 320 30% 0 - benign(0) tolerated(1) - superfamily_SSF81321 OR52E4 390081 genome.wustl.edu 37 11 5905801 5905801 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001005165.1 +1 provisional p.E93D 0.051 416 0.2% 318 31.8% 0 - benign(0.023) tolerated(0.12) neutral(0.262) HMMPfam_7tm_1,superfamily_SSF81321 OR56A1 120796 genome.wustl.edu 37 11 6048169 6048169 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001001917.2 -1 validated p.L256I 0.002 247 0% 215 34.4% 0 - benign(0.09) deleterious(0.01) neutral(0.412) HMMPfam_7tm_1,superfamily_SSF81321 OR52B2 255725 genome.wustl.edu 37 11 6191186 6191186 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001004052.1 -1 provisional p.R124H 1.000 344 0% 387 31.3% 0 - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 SMPD1 6609 genome.wustl.edu 37 11 6414911 6414911 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000543.3 +1 reviewed p.R443Q 0.993 45 0% 96 34.4% 14 0% possibly_damaging(0.782) tolerated(0.2) neutral(0.342) HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases DCHS1 8642 genome.wustl.edu 37 11 6662658 6662658 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003737.2 -1 reviewed p.D63N 1.000 7 0.000 11 0.455 0 - probably_damaging(1) tolerated(0.43) deleterious(0.513) HMMPfam_Cadherin,superfamily_Cadherin OR2AG1 144125 genome.wustl.edu 37 11 6806533 6806533 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001004489.2 +1 validated p.E89* 0.001 240 0% 199 27.1% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF215 7762 genome.wustl.edu 37 11 6977532 6977532 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_013250.2 +1 validated p.K442E 0.012 264 0% 230 32.6% 0 - benign(0.001) deleterious(0.01) neutral(0.406) superfamily_C2H2 and C2HC zinc fingers NLRP14 338323 genome.wustl.edu 37 11 7063897 7063897 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_176822.3 +1 reviewed p.F214L 1.000 231 0% 188 27.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NACHT ST5 6764 genome.wustl.edu 37 11 8715677 8715677 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005418.3 -1 reviewed p.G1127D 1.000 53 0% 84 33.3% 90 35.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF143 7702 genome.wustl.edu 37 11 9517878 9517878 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003442.5 +1 validated p.R265Q 1.000 63 0% 71 28.2% 5 80% probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_C2H2 and C2HC zinc fingers USP47 55031 genome.wustl.edu 37 11 11959901 11959901 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017944.3 +1 validated p.F657L 1.000 90 0% 65 30.8% 7 14.2% benign(0.032) tolerated(0.31) neutral(0.029) NULL COPB1 1315 genome.wustl.edu 37 11 14508011 14508011 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001144061.1 -1 reviewed p.R247C 1.000 237 0% 246 31.3% 17 23.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adaptin_N,superfamily_ARM-type_fold ABCC8 6833 genome.wustl.edu 37 11 17464343 17464343 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000352.3 -1 reviewed p.F518 1.000 34 0% 66 16.7% 0 - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain USH1C 10083 genome.wustl.edu 37 11 17547929 17547929 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_153676.3 -1 reviewed p.F213L 1.000 12 0% 34 17.6% 0 - probably_damaging(0.967) tolerated(0.06) deleterious(0.732) HMMPfam_PDZ,superfamily_PDZ MRGPRX3 117195 genome.wustl.edu 37 11 18158857 18158857 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_054031.3 +1 reviewed p.I36 0.938 161 0% 213 29.1% 0 - - - - superfamily_Family A G protein-coupled receptor-like PTPN5 84867 genome.wustl.edu 37 11 18762153 18762153 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006906.1 -1 validated p.F304L 1.000 19 0% 43 25.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II ANO3 63982 genome.wustl.edu 37 11 26574805 26574805 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_031418.2 +1 validated p.I433M 1.000 525 0% 444 31.1% 0 - possibly_damaging(0.925) tolerated(0.38) neutral(0.391) NULL C11orf41 25758 genome.wustl.edu 37 11 33565480 33565480 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_012194.1 +1 validated p.D494N 0.806 240 0% 278 29.1% 0 - benign(0.139) deleterious(0.02) neutral(0.395) NULL C11orf41 25758 genome.wustl.edu 37 11 33689584 33689584 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_012194.1 +1 validated p.D1818N 0.998 32 0% 38 18.4% 0 - possibly_damaging(0.819) deleterious(0.04) deleterious(0.658) NULL NAT10 55226 genome.wustl.edu 37 11 34139774 34139774 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024662.2 +1 validated p.D202G 1.000 64 0% 76 17.1% 4 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL C11orf74 119710 genome.wustl.edu 37 11 36654935 36654935 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_138787.2 +1 predicted p.L80I 0.367 140 0% 112 28.6% 30 56.6% benign(0.35) tolerated(0.3) neutral(0.140) NULL API5 8539 genome.wustl.edu 37 11 43351561 43351561 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001142930.1 +1 validated p.R392C 1.000 131 0% 105 31.4% 13 53.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_API5,superfamily_ARM-type_fold TTC17 55761 genome.wustl.edu 37 11 43419005 43419005 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018259.5 +1 validated p.F294L 1.000 360 0% 367 39.2% 6 16.6% benign(0) tolerated(0.71) neutral(0.002) superfamily_SSF48452 EXT2 2132 genome.wustl.edu 37 11 44193272 44193272 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000401.3 +1 reviewed p.W442R 1.000 318 0% 328 30.5% 10 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AMBRA1 55626 genome.wustl.edu 37 11 46564236 46564236 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017749.2 -1 validated p.S354L 0.999 45 4.4% 90 37.8% 2 50% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL CKAP5 9793 genome.wustl.edu 37 11 46784276 46784276 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001008938.1 -1 validated p.R1310C 1.000 156 0.6% 150 20.7% 28 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat NR1H3 10062 genome.wustl.edu 37 11 47282993 47282993 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005693.2 +1 validated p.R234Q 1.000 49 0% 108 25% 31 32.2% benign(0.155) tolerated(0.19) neutral(0.063) superfamily_Nuclear receptor ligand-binding domain LOC340970 340970 genome.wustl.edu 37 11 49013331 49013331 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_002343062.1 -1 model p.C35R 1.000 160 0% 157 27.4% 0 - - - - HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box ENSG00000181950 0 genome.wustl.edu 37 11 55234662 55234662 + Missense_Mutation SNP C C A rs181940029 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000314689 +1 known p.S44Y 0.000 126 0% 177 32.8% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4C11 219429 genome.wustl.edu 37 11 55371520 55371520 + Silent SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001004700.1 -1 provisional p.I110 0.886 248 0% 206 10.7% 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR5I1 10798 genome.wustl.edu 37 11 55703607 55703607 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006637.1 -1 reviewed p.E90D 0.000 284 0% 189 33.9% 0 - benign(0.007) tolerated(0.28) neutral(0.032) HMMPfam_7tm_1,superfamily_SSF81321 OR8H2 390151 genome.wustl.edu 37 11 55872802 55872802 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001005200.1 +1 provisional p.T95M 0.000 993 0% 738 31.3% 0 - benign(0.002) tolerated(0.23) neutral(0.042) HMMPfam_7tm_1,superfamily_SSF81321 OR8K5 219453 genome.wustl.edu 37 11 55927111 55927111 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001004058.2 -1 validated p.M228T 0.007 231 0% 240 34.6% 0 - possibly_damaging(0.707) deleterious(0.01) deleterious(0.661) HMMPfam_7tm_1,superfamily_SSF81321 OR5T1 390155 genome.wustl.edu 37 11 56043864 56043864 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001004745.1 +1 provisional p.F250L 0.607 496 0% 534 31.3% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR9G1 390174 genome.wustl.edu 37 11 56467967 56467967 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001005213.1 +1 provisional p.S35F 0.000 303 0% 243 20.6% 0 - benign(0.001) tolerated(0.11) neutral(0.272) superfamily_SSF81321 OR5AK3P 81228 genome.wustl.edu 37 11 56739023 56739023 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000326876 +1 known p.S167P 0.000 71 0% 94 19.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5AN1 390195 genome.wustl.edu 37 11 59132298 59132298 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001004729.1 +1 provisional p.R123C 1.000 426 0% 426 30% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 GIF 2694 genome.wustl.edu 37 11 59610010 59610010 + Silent SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005142.2 -1 reviewed p.I139 0.837 95 0% 135 17% 0 - - - - HMMPfam_Cobalamin_bind TTC9C 283237 genome.wustl.edu 37 11 62496346 62496346 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_173810.3 +1 provisional p.Q9R 1.000 20 0% 38 15.8% 23 39.1% benign(0) tolerated(0.36) neutral(0.020) HMMSmart_SM00028,superfamily_TPR-like FERMT3 83706 genome.wustl.edu 37 11 63987447 63987447 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_178443.2 +1 reviewed p.D392 0.301 12 0% 33 57.6% 6 0% - - - HMMPfam_PH,HMMSmart_SM00233,HMMPfam_FERM_M,HMMSmart_SM00295,superfamily_PH domain-like SART1 9092 genome.wustl.edu 37 11 65744523 65744523 + Silent SNP G G A rs185941895 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005146.4 +1 reviewed p.P632 0.999 17 0% 32 28.1% 175 40.5% - - - HMMPfam_SART-1 CATSPER1 117144 genome.wustl.edu 37 11 65787798 65787798 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_053054.3 -1 reviewed p.A685V 0.603 27 0% 35 28.6% 0 - benign(0) tolerated(0.47) neutral(0.011) superfamily_Voltage-gated potassium channels NPAS4 266743 genome.wustl.edu 37 11 66190287 66190287 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_178864.3 +1 validated p.F191L 1.000 22 0% 70 42.9% 0 - benign(0.34) tolerated(0.27) neutral(0.141) NULL PPP6R3 55291 genome.wustl.edu 37 11 68305257 68305257 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018312.4 +1 validated p.R42H 1.000 69 0% 76 30.3% 0 - benign(0.123) tolerated(0.14) neutral(0.260) NULL PPP6R3 55291 genome.wustl.edu 37 11 68367930 68367930 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018312.4 +1 validated p.W640* 1.000 93 0% 123 29.3% 8 0% - - - NULL RNF121 55298 genome.wustl.edu 37 11 71705778 71705778 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018320.4 +1 reviewed p.S214L 1.000 69 0% 163 28.2% 13 38.4% possibly_damaging(0.56) tolerated(0.13) neutral(0.444) superfamily_SSF57850 NUMA1 4926 genome.wustl.edu 37 11 71726137 71726137 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006185.2 -1 validated p.E804 0.278 15 0% 40 17.5% 46 19.5% - - - NULL C2CD3 26005 genome.wustl.edu 37 11 73796730 73796730 + Silent SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015531.4 -1 validated p.C1281 1.000 75 0% 83 26.5% 0 - - - - HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) XRRA1 143570 genome.wustl.edu 37 11 74563071 74563071 + Silent SNP G G A rs188659360 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_182969.1 -1 validated p.F401 0.017 64 0% 93 23.7% 3 0% probably_damaging(0.965) - - superfamily_L domain-like MOGAT2 80168 genome.wustl.edu 37 11 75439135 75439135 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_025098.2 +1 provisional p.F199S 0.085 16 0% 26 23.1% 0 - benign(0) tolerated(0.42) neutral(0.014) HMMPfam_DAGAT UVRAG 7405 genome.wustl.edu 37 11 75562938 75562938 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003369.3 +1 reviewed p.R43Q 1.000 289 0% 373 27.6% 1 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMSmart_C2,superfamily_C2_CaLB UVRAG 7405 genome.wustl.edu 37 11 75572800 75572800 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003369.3 +1 reviewed p.R82K 1.000 35 0% 46 26.1% 1 0% benign(0) tolerated(0.2) neutral(0.049) HMMSmart_C2,superfamily_C2_CaLB UVRAG 7405 genome.wustl.edu 37 11 75718615 75718615 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003369.3 +1 reviewed p.R317C 1.000 147 0% 160 34.4% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C11orf30 56946 genome.wustl.edu 37 11 76158035 76158035 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020193.3 +1 validated p.R18I 1.000 76 0% 105 29.5% 2 100% possibly_damaging(0.527) tolerated(0.06) deleterious(0.500) HMMPfam_ENT NDUFC2 4718 genome.wustl.edu 37 11 77784179 77784179 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004549.4 -1 validated p.R59C 1.000 210 0% 380 33.7% 335 35.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NDUF_C2 CCDC89 220388 genome.wustl.edu 37 11 85396179 85396179 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152723.1 -1 provisional p.R332H 0.164 152 0% 128 38.3% 3 33.3% probably_damaging(0.998) tolerated(0.11) deleterious(0.746) NULL C11orf73 51501 genome.wustl.edu 37 11 86056716 86056716 + RNA SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NR_024596.1 +1 validated NULL 0.657 77 0% 58 27.6% 18 72.2% - - - - ENSG00000204456 0 genome.wustl.edu 37 11 89500140 89500140 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000375974 -1 known p.S76P 0.000 152 0% 177 23.7% 0 - - - - NULL FAT3 120114 genome.wustl.edu 37 11 92623929 92623929 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001008781.2 +1 validated p.L4442 0.372 32 0% 65 35.4% 0 - - - - NULL CCDC67 159989 genome.wustl.edu 37 11 93088644 93088644 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_181645.3 +1 validated p.R46Q 0.940 92 0% 88 29.5% 0 - possibly_damaging(0.67) tolerated(0.38) neutral(0.255) NULL MED17 9440 genome.wustl.edu 37 11 93526927 93526927 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004268.4 +1 reviewed p.V224G 1.000 86 0% 97 21.6% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF2364 HEPHL1 341208 genome.wustl.edu 37 11 93778868 93778868 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001098672.1 +1 validated p.P67L 1.000 94 0% 134 17.9% 0 - possibly_damaging(0.892) deleterious(0.01) deleterious(0.757) superfamily_Cupredoxin HEPHL1 341208 genome.wustl.edu 37 11 93779019 93779019 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001098672.1 +1 validated p.K117N 1.000 132 0% 182 30.2% 0 - probably_damaging(0.97) deleterious(0.01) deleterious(0.818) superfamily_Cupredoxin,HMMPfam_Cu-oxidase_3 TMEM133 83935 genome.wustl.edu 37 11 100863100 100863100 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032021.2 +1 validated p.E21* 0.003 166 0% 125 33.6% 2 50% - - - NULL PGR 5241 genome.wustl.edu 37 11 100996830 100996830 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000926.4 -1 reviewed p.I566S 0.998 40 0% 55 25.5% 10 70% benign(0.021) deleterious(0) neutral(0.446) HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Glucocorticoid receptor-like (DNA-binding domain) MMP3 4314 genome.wustl.edu 37 11 102713510 102713510 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002422.3 -1 reviewed p.S81 0.000 80 0% 73 31.5% 0 - - - - HMMPfam_PG_binding_1,superfamily_PGBD-like MMP13 4322 genome.wustl.edu 37 11 102815092 102815092 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002427.3 -1 reviewed p.Y440C 0.986 132 0% 155 35.5% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX DYNC2H1 79659 genome.wustl.edu 37 11 102991711 102991711 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001080463.1 +1 reviewed p.E436* 1.000 27 0% 25 32% 0 - - - - HMMPfam_DHC_N1 DYNC2H1 79659 genome.wustl.edu 37 11 103026164 103026164 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001080463.1 +1 reviewed p.E1226D 1.000 113 0% 80 31.2% 0 - benign(0.07) tolerated(0.12) neutral(0.266) HMMPfam_DHC_N2 DDI1 414301 genome.wustl.edu 37 11 103907653 103907653 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001001711.2 +1 validated p.E35K 0.992 112 0% 108 38.9% 0 - possibly_damaging(0.848) deleterious(0.03) deleterious(0.690) HMMPfam_ubiquitin,HMMSmart_UBQ,superfamily_SSF54236 AASDHPPT 60496 genome.wustl.edu 37 11 105967615 105967615 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015423.2 +1 reviewed p.R304Q 0.969 108 0.9% 103 40.8% 20 30% probably_damaging(0.984) deleterious(0) deleterious(0.875) NULL ATM 472 genome.wustl.edu 37 11 108173607 108173607 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000051.3 +1 reviewed p.E1783* 0.901 223 0% 208 31.2% 0 - - - - superfamily_ARM repeat ATM 472 genome.wustl.edu 37 11 108190750 108190750 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000051.3 +1 reviewed p.E2139D 1.000 121 0% 126 11.1% 0 - benign(0.286) tolerated(0.7) neutral(0.090) HMMPfam_FAT,superfamily_ARM repeat ATM 472 genome.wustl.edu 37 11 108205734 108205734 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000051.3 +1 reviewed p.I2683M 0.639 132 0% 130 33.8% 3 33.3% possibly_damaging(0.572) deleterious(0.01) deleterious(0.602) superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat BTG4 54766 genome.wustl.edu 37 11 111365929 111365929 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017589.2 -1 reviewed p.K207 0.176 190 0% 166 27.7% 2 0% - - - NULL ANKK1 255239 genome.wustl.edu 37 11 113270483 113270483 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_178510.1 +1 reviewed p.H598N 1.000 4 0.000 21 0.333 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK DRD2 1813 genome.wustl.edu 37 11 113286177 113286177 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000795.3 -1 reviewed p.R230Q 0.996 67 0% 142 29.6% 0 - benign(0.127) tolerated(0.96) neutral(0.011) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HTR3B 9177 genome.wustl.edu 37 11 113802105 113802105 + Splice_Site SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006028.3 +1 reviewed e3-1 1.000 44 0% 82 30.5% 0 - - - - - HTR3B 9177 genome.wustl.edu 37 11 113802527 113802527 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006028.3 +1 reviewed p.E102 0.707 122 0% 167 34.1% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like FAM55A 120400 genome.wustl.edu 37 11 114393786 114393786 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152315.2 -1 validated p.Q166R 0.012 209 0% 171 34.5% 0 - benign(0.003) tolerated(0.45) neutral(0.012) NULL DSCAML1 57453 genome.wustl.edu 37 11 117374633 117374633 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020693.2 -1 provisional p.I822 0.970 12 0% 42 38.1% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin AMICA1 120425 genome.wustl.edu 37 11 118074145 118074145 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001098526.1 -1 validated p.R257Q 0.000 507 0% 703 32.7% 0 - probably_damaging(0.956) tolerated(0.26) neutral(0.433) NULL MLL 4297 genome.wustl.edu 37 11 118374094 118374094 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005933.2 +1 validated p.S2493F 0.442 160 0% 182 28% 0 - benign(0.303) - - NULL ARCN1 372 genome.wustl.edu 37 11 118461177 118461177 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001655.4 +1 reviewed p.R314C 1.000 86 0% 135 36.3% 10 70% possibly_damaging(0.945) tolerated(0.13) deleterious(0.642) HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor UPK2 7379 genome.wustl.edu 37 11 118828379 118828379 + Splice_Site SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006760.3 +1 reviewed e4+1 1.000 27 0% 48 37.5% 0 - - - - - CCDC84 338657 genome.wustl.edu 37 11 118882686 118882686 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_198489.1 +1 provisional p.A184V 0.038 89 0% 139 33.8% 12 58.3% benign(0.001) tolerated(0.46) neutral(0.012) NULL HYOU1 10525 genome.wustl.edu 37 11 118918791 118918791 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001130991.1 -1 reviewed p.M793T 1.000 68 0% 88 36.4% 97 47.4% benign(0.023) tolerated(0.48) neutral(0.011) superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain UBASH3B 84959 genome.wustl.edu 37 11 122677201 122677201 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032873.4 +1 validated p.I560R 1.000 110 0% 146 32.9% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PGAM,superfamily_SSF53254 OR6M1 390261 genome.wustl.edu 37 11 123676550 123676550 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001005325.1 -1 provisional p.E170* 0.005 267 0% 214 28% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8D4 338662 genome.wustl.edu 37 11 123777351 123777351 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001005197.1 +1 provisional p.F71L 0.972 428 0% 464 33% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 OR8B12 219858 genome.wustl.edu 37 11 124413346 124413346 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001005195.1 -1 provisional p.D69Y 0.983 293 0% 290 34.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SPA17 53340 genome.wustl.edu 37 11 124545165 124545165 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017425.3 +1 reviewed p.S2L 1.000 146 0.7% 155 29% 58 53.4% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL SLC37A2 219855 genome.wustl.edu 37 11 124951675 124951675 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_198277.2 +1 validated p.N253S 0.000 20 0% 42 21.4% 1 0% benign(0) tolerated(0.77) neutral(0.001) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter HYLS1 219844 genome.wustl.edu 37 11 125769318 125769318 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001134793.1 +1 reviewed p.R19* 0.253 77 0% 66 21.2% 34 91.1% - - - NULL ETS1 2113 genome.wustl.edu 37 11 128360374 128360374 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001143820.1 -1 validated p.Q104 1.000 92 0% 155 27.7% 3 66.6% - - - HMMPfam_SAM_PNT,HMMSmart_SAM_PNT,superfamily_SAM_homology KCNJ1 3758 genome.wustl.edu 37 11 128710042 128710042 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000220.2 -1 reviewed p.E52* 1.000 132 0% 192 32.3% 0 - - - - HMMPfam_IRK,superfamily_Voltage-gated potassium channels SNX19 399979 genome.wustl.edu 37 11 130785043 130785043 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014758.2 -1 validated p.L264 0.001 50 0% 85 38.8% 4 100% - - - HMMPfam_PXA,HMMSmart_SM00313 CACNA2D4 93589 genome.wustl.edu 37 12 1919485 1919485 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_172364.4 -1 reviewed p.D894N 0.965 11 0% 42 19% 0 - possibly_damaging(0.858) deleterious(0) deleterious(0.776) NULL DYRK4 8798 genome.wustl.edu 37 12 4705829 4705829 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003845.1 +1 provisional p.N165T 0.999 53 0% 81 29.6% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase KCNA5 3741 genome.wustl.edu 37 12 5154345 5154345 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002234.2 +1 reviewed p.F344 0.790 34 0% 59 11.9% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CD163L1 283316 genome.wustl.edu 37 12 7585167 7585167 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_174941.4 -1 reviewed p.S204Y 0.000 200 0% 166 21.7% 0 - benign(0.013) deleterious(0.02) neutral(0.384) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like SLC2A14 144195 genome.wustl.edu 37 12 7984272 7984272 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_153449.2 -1 provisional p.S90Y 0.836 60 0% 95 38.9% 0 - possibly_damaging(0.927) deleterious(0) deleterious(0.820) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter FOXJ2 55810 genome.wustl.edu 37 12 8205425 8205425 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018416.2 +1 validated p.F568 1.000 10 0% 36 38.9% 2 50% - - - NULL FAM90A1 55138 genome.wustl.edu 37 12 8375299 8375299 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018088.3 -1 validated p.E172K 0.000 14 0% 33 33.3% 1 100% benign(0) tolerated(0.45) neutral(0.012) NULL A2M 2 genome.wustl.edu 37 12 9230446 9230446 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000014.4 -1 reviewed p.A1043T 0.995 169 0% 142 12.7% 95 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp PZP 5858 genome.wustl.edu 37 12 9311046 9311046 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002864.2 -1 validated p.S1088 0.015 205 0% 170 31.8% 0 - - - - superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp KLRC3 3823 genome.wustl.edu 37 12 10568248 10568248 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007333.2 -1 reviewed p.F245V 0.047 57 0% 74 41.9% 0 - unknown(0) - - NULL ARHGDIB 397 genome.wustl.edu 37 12 15103494 15103494 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001175.4 -1 validated p.T51 0.002 400 0% 357 31.4% 26 3.8% - - - HMMPfam_Rho_GDI,superfamily_E set domains PTPRO 5800 genome.wustl.edu 37 12 15654583 15654583 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_030667.1 +1 reviewed p.R231C 1.000 171 0% 153 28.8% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL PDE3A 5139 genome.wustl.edu 37 12 20774339 20774339 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000921.3 +1 validated p.R512* 0.995 82 0% 63 23.8% 1 0% - - - NULL RECQL 5965 genome.wustl.edu 37 12 21636461 21636461 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002907.3 -1 reviewed p.E183 0.860 354 0% 332 30.4% 6 50% - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases KCNJ8 3764 genome.wustl.edu 37 12 21918719 21918719 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004982.2 -1 reviewed p.L405F 1.000 264 0% 293 18.8% 7 0% benign(0) tolerated(0.08) neutral(0.300) NULL KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 byCluster TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_033360.2 -1 reviewed p.G12D 1.000 42 0% 50 30% 1 0% possibly_damaging(0.886) deleterious(0) deleterious(0.791) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases IFLTD1 160492 genome.wustl.edu 37 12 25699349 25699349 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001145728.1 -1 validated p.Y150* 0.949 233 0% 202 31.2% 0 - - - - superfamily_Lamin A/C globular tail domain ITPR2 3709 genome.wustl.edu 37 12 26568245 26568245 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002223.2 -1 validated p.P2433T 0.987 159 0% 149 33.6% 6 50% benign(0) tolerated(0.09) neutral(0.296) HMMPfam_Ion_trans IPO8 10526 genome.wustl.edu 37 12 30806009 30806009 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006390.2 -1 reviewed p.L656I 1.000 193 0% 129 32.6% 3 33.3% possibly_damaging(0.857) tolerated(0.2) neutral(0.380) superfamily_ARM-type_fold CPNE8 144402 genome.wustl.edu 37 12 39223234 39223234 + Silent SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_153634.2 -1 reviewed p.C118 1.000 365 0% 281 30.6% 1 0% - - - HMMSmart_C2,superfamily_C2_CaLB C12orf40 283461 genome.wustl.edu 37 12 40040646 40040646 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001031748.2 +1 validated p.N114H 0.000 110 0% 79 40.5% 0 - benign(0.001) - - NULL C12orf40 283461 genome.wustl.edu 37 12 40114750 40114750 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001031748.2 +1 validated p.E552D 0.000 205 0% 150 27.3% 0 - possibly_damaging(0.532) - - NULL CNTN1 1272 genome.wustl.edu 37 12 41333284 41333284 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001843.2 +1 reviewed p.S459N 0.982 109 0% 60 28.3% 2 0% possibly_damaging(0.858) tolerated(0.18) neutral(0.387) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin GXYLT1 283464 genome.wustl.edu 37 12 42499711 42499711 + Missense_Mutation SNP C C T rs76555438 TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_173601.1 -1 validated p.R258H 1.000 124 0% 126 34.9% 2 100% probably_damaging(0.979) deleterious(0.04) deleterious(0.771) HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases ADAMTS20 80070 genome.wustl.edu 37 12 43822260 43822260 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_025003.3 -1 validated p.E1243D 1.000 100 0% 90 25.6% 0 - benign(0.354) tolerated(0.43) neutral(0.126) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADAMTS20 80070 genome.wustl.edu 37 12 43925874 43925874 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_025003.3 -1 validated p.S193Y 0.000 210 0% 236 30.5% 0 - benign(0.01) tolerated(0.17) neutral(0.059) NULL NELL2 4753 genome.wustl.edu 37 12 45173726 45173726 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001145107.1 -1 reviewed p.E189* 1.000 254 0% 207 36.2% 0 - - - - HMMSmart_LamG,HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 ANO6 196527 genome.wustl.edu 37 12 45796859 45796859 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001142679.1 +1 validated p.L539 0.969 236 0% 279 28.7% 2 50% - - - NULL ARID2 196528 genome.wustl.edu 37 12 46246049 46246049 + Silent SNP T T G rs146664069 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000422737 +1 known p.L1355R 1.000 183 0% 193 28% 1 100% - - - NULL MLL2 8085 genome.wustl.edu 37 12 49415845 49415845 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003482.3 -1 validated p.R5501Q 1.000 101 0% 173 34.1% 20 45% unknown(0) - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain PRPF40B 25766 genome.wustl.edu 37 12 50036024 50036024 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001031698.1 +1 provisional p.E609K 1.000 29 0% 58 34.5% 33 51.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SCN8A 6334 genome.wustl.edu 37 12 52139748 52139748 + Missense_Mutation SNP A A G rs181076505 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014191.2 +1 reviewed p.Q687R 1.000 131 0% 155 26.5% 0 - possibly_damaging(0.681) tolerated(0.34) neutral(0.266) NULL KRT85 3891 genome.wustl.edu 37 12 52761185 52761185 + Missense_Mutation SNP G G A rs56033871 TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002283.3 -1 reviewed p.S2L 0.985 10 0% 23 47.8% 0 - benign(0.208) deleterious(0) neutral(0.465) NULL KRT6B 3854 genome.wustl.edu 37 12 52841590 52841590 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005555.3 -1 reviewed p.R466C 1.000 218 0% 391 27.9% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament,PatternScan_IF KRT76 51350 genome.wustl.edu 37 12 53170650 53170650 + Silent SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015848.4 -1 reviewed p.G142 0.000 28 0% 61 37.7% 0 - - - - NULL CALCOCO1 57658 genome.wustl.edu 37 12 54105644 54105644 + RNA SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NR_026554.1 -1 validated NULL 0.000 14 0% 72 33.3% 17 23.5% - - - - HOXC5 3222 genome.wustl.edu 37 12 54428124 54428124 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018953.2 +1 reviewed p.E173* 1.000 30 0% 55 27.3% 0 - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like ITGA5 3678 genome.wustl.edu 37 12 54797491 54797491 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002205.2 -1 reviewed p.S565Y 1.000 39 0% 73 11% 4 0% benign(0.248) deleterious(0.04) neutral(0.374) HMMPfam_Integrin_alpha2,superfamily_SSF69179 OR6C3 254786 genome.wustl.edu 37 12 55726085 55726085 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_054104.1 +1 provisional p.L201 0.000 373 0% 354 32.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR6C65 403282 genome.wustl.edu 37 12 55795032 55795032 + Silent SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001005518.1 +1 provisional p.S240 0.054 148 0% 144 31.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 METTL7B 196410 genome.wustl.edu 37 12 56077752 56077752 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152637.2 +1 validated p.S218 0.616 165 0% 411 33.8% 0 - - - - superfamily_SSF53335 ITGA7 3679 genome.wustl.edu 37 12 56090126 56090126 + Missense_Mutation SNP C C T rs150583010 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001144996.1 -1 reviewed p.G614R 1.000 4 0.000 10 0.400 0 - benign(0.001) tolerated(0.69) neutral(0.002) HMMPfam_Integrin_alpha2,superfamily_Integrin domains TIMELESS 8914 genome.wustl.edu 37 12 56818547 56818547 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003920.3 -1 validated p.R623W 1.000 45 0% 66 48.5% 5 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL BAZ2A 11176 genome.wustl.edu 37 12 56999815 56999815 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_013449.3 -1 validated p.E766D 0.993 15 0% 23 30.4% 4 25% possibly_damaging(0.942) tolerated(0.41) neutral(0.402) NULL SHMT2 6472 genome.wustl.edu 37 12 57628070 57628070 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005412.5 +1 reviewed p.R481C 0.991 38 0% 122 33.6% 287 35.1% probably_damaging(0.961) deleterious(0) deleterious(0.849) superfamily_PyrdxlP-dep_Trfase_major SLC26A10 65012 genome.wustl.edu 37 12 58018721 58018721 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_133489.2 +1 validated p.R434C 0.298 50 0% 171 35.7% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_STAS,superfamily_Anti-sigma factor antagonist SpoIIaa CDK4 1019 genome.wustl.edu 37 12 58145447 58145447 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000075.2 -1 reviewed p.G18 1.000 54 0% 80 41.2% 109 45.8% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase IFNG 3458 genome.wustl.edu 37 12 68551796 68551796 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000619.2 -1 reviewed p.S88N 0.000 156 0% 144 40.3% 0 - benign(0) tolerated(0.09) neutral(0.296) HMMPfam_IFN-gamma,superfamily_4-helical cytokines MDM1 56890 genome.wustl.edu 37 12 68719294 68719294 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017440.4 -1 reviewed p.R187I 1.000 440 0.2% 465 33.8% 10 60% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL BEST3 144453 genome.wustl.edu 37 12 70070986 70070986 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032735.2 -1 validated p.V230I 1.000 97 0% 117 25.6% 0 - benign(0.009) tolerated(0.9) neutral(0.001) HMMPfam_Bestrophin TBC1D15 64786 genome.wustl.edu 37 12 72291686 72291686 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_022771.4 +1 reviewed p.R400I 1.000 156 0% 139 26.6% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p BBS10 79738 genome.wustl.edu 37 12 76740131 76740131 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024685.3 -1 reviewed p.S545F 0.000 291 0% 303 37.3% 0 - probably_damaging(0.959) deleterious(0.01) deleterious(0.808) superfamily_GroEL-ATPase ZDHHC17 23390 genome.wustl.edu 37 12 77220694 77220694 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015336.2 +1 validated p.R302W 1.000 190 0% 124 30.6% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL MYF6 4618 genome.wustl.edu 37 12 81102648 81102648 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002469.2 +1 reviewed p.S213L 1.000 82 0% 64 39.1% 0 - probably_damaging(0.957) tolerated(0.3) neutral(0.429) NULL CCDC59 29080 genome.wustl.edu 37 12 82748291 82748291 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014167.4 -1 validated p.R183C 1.000 48 0% 43 27.9% 69 40.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRRIQ1 84125 genome.wustl.edu 37 12 85518171 85518171 + Nonsense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001079910.1 +1 validated p.L1294* 0.000 317 0% 282 29.8% 3 66.6% - - - NULL MGAT4C 25834 genome.wustl.edu 37 12 86383187 86383187 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_013244.3 -1 validated p.S46 0.893 41 0% 52 40.4% 0 - - - - NULL C12orf50 160419 genome.wustl.edu 37 12 88390377 88390377 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152589.1 -1 predicted p.K112N 1.000 144 0% 121 30.6% 0 - possibly_damaging(0.818) deleterious(0) deleterious(0.754) NULL CEP290 80184 genome.wustl.edu 37 12 88512302 88512302 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_025114.3 -1 reviewed p.R557C 1.000 82 0% 56 10.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PLXNC1 10154 genome.wustl.edu 37 12 94603463 94603463 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005761.1 +1 provisional p.R513* 0.989 235 0.4% 307 30.6% 1 0% - - - NULL CDK17 5128 genome.wustl.edu 37 12 96707124 96707124 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002595.3 -1 reviewed p.R131H 1.000 89 0% 112 42.9% 1 100% probably_damaging(0.999) tolerated(0.46) deleterious(0.502) NULL C12orf63 374467 genome.wustl.edu 37 12 97051792 97051792 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_198520.2 +1 validated p.D170N 1.000 226 0% 218 32.6% 0 - unknown(0) tolerated(0.79) - NULL C12orf63 374467 genome.wustl.edu 37 12 97085076 97085076 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_198520.2 +1 validated p.R509 0.958 108 0% 127 30.7% 0 - - - - NULL ANKS1B 56899 genome.wustl.edu 37 12 99194779 99194779 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152788.3 -1 validated p.A1064V 1.000 96 0% 93 29% 0 - possibly_damaging(0.842) tolerated(0.27) neutral(0.356) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like C12orf42 374470 genome.wustl.edu 37 12 103872168 103872168 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001099336.1 -1 validated p.E13* 0.003 74 0% 69 14.5% 0 - - - - NULL TDG 6996 genome.wustl.edu 37 12 104376599 104376599 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003211.4 +1 reviewed p.G167 0.994 251 0% 230 23% 10 30% - - - HMMPfam_UDG,superfamily_UDNA_glycsylseSF GLT8D2 83468 genome.wustl.edu 37 12 104393197 104393197 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_031302.3 -1 provisional p.S127L 0.137 273 0% 231 19.5% 1 0% possibly_damaging(0.767) deleterious(0) deleterious(0.729) HMMPfam_Glyco_transf_8,superfamily_SSF53448 ENSG00000179821 0 genome.wustl.edu 37 12 105371541 105371541 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000312876 -1 known p.D83A 1.000 32 0% 43 44.2% 0 - - - - HMMPfam_Filament NAA25 80018 genome.wustl.edu 37 12 112509855 112509855 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024953.3 -1 reviewed p.E294* 1.000 45 0% 68 32.4% 3 0% - - - HMMPfam_NatB_MDM20,superfamily_TPR-like C12orf51 283450 genome.wustl.edu 37 12 112686222 112686222 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001109662.2 -1 validated p.F927V 1.000 30 0% 46 28.3% 0 - benign(0.002) - - NULL RASAL1 8437 genome.wustl.edu 37 12 113559336 113559336 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004658.1 -1 reviewed p.R136C 0.642 68 0% 157 38.9% 7 71.4% benign(0.011) tolerated(0.2) neutral(0.050) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) IQCD 115811 genome.wustl.edu 37 12 113645265 113645265 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_138451.1 -1 provisional p.R236K 0.000 63 0% 97 30.9% 12 66.6% benign(0.004) tolerated(0.13) neutral(0.253) NULL PLBD2 196463 genome.wustl.edu 37 12 113824749 113824749 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_173542.3 +1 validated p.E432K 0.980 22 0% 40 37.5% 14 50% benign(0.002) tolerated(0.8) neutral(0.001) HMMPfam_Phospholip_B TBX5 6910 genome.wustl.edu 37 12 114836450 114836450 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000192.3 -1 reviewed p.A146 0.045 15 0% 25 20% 0 - - - - HMMPfam_T-box,HMMSmart_SM00425,superfamily_p53-like transcription factors,PatternScan_TBOX_2 MED13L 23389 genome.wustl.edu 37 12 116534502 116534502 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015335.3 -1 validated p.E151K 1.000 142 0% 152 28.9% 3 100% possibly_damaging(0.65) deleterious(0.05) deleterious(0.574) NULL CCDC64 92558 genome.wustl.edu 37 12 120499525 120499525 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_207311.2 +1 validated p.V219 0.997 104 0% 172 41.9% 10 80% - - - NULL PXN 5829 genome.wustl.edu 37 12 120660724 120660724 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001080855.1 -1 validated p.L145 0.924 11 0% 41 46.3% 9 55.5% - - - HMMPfam_Paxillin COQ5 84274 genome.wustl.edu 37 12 120941426 120941426 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000302223 -1 known p.F219L 0.000 14 0% 23 21.7% 96 47.9% unknown(0) tolerated(0.49) - NULL KDM2B 84678 genome.wustl.edu 37 12 121970820 121970820 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032590.4 -1 reviewed p.Y274 0.390 10 0% 25 44% 3 33.3% - - - HMMSmart_SM00558,HMMPfam_JmjC,superfamily_Clavaminate synthase-like TMEM120B 144404 genome.wustl.edu 37 12 122181540 122181540 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001080825.2 +1 validated p.T25 0.001 32 0% 63 30.2% 4 0% - - - HMMPfam_TMPIT DNAH10 196385 genome.wustl.edu 37 12 124359937 124359937 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_207437.3 +1 validated p.D2582Y 1.000 45 0% 99 10.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases POLE 5426 genome.wustl.edu 37 12 133250289 133250289 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006231.2 -1 validated p.V411L 1.000 120 0% 257 30.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,superfamily_RNaseH_fold ZNF268 10795 genome.wustl.edu 37 12 133779075 133779075 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003415.2 +1 validated p.Q268R 0.000 65 0% 68 22.1% 0 - benign(0) tolerated(1) - superfamily_C2H2 and C2HC zinc fingers ENSG00000187721 0 genome.wustl.edu 37 13 19601067 19601067 + Silent SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000433887 -1 known p.*68L 0.020 24 0% 23 34.8% 0 - - - - NULL TPTE2 93492 genome.wustl.edu 37 13 19997250 19997250 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_199254.2 -1 validated p.K507N 0.889 159 0% 147 27.2% 0 - benign(0.248) deleterious(0.01) neutral(0.431) superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 IFT88 8100 genome.wustl.edu 37 13 21173633 21173633 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_175605.3 +1 reviewed p.R256S 1.000 23 0% 31 35.5% 1 0% possibly_damaging(0.607) tolerated(0.14) neutral(0.460) HMMPfam_TPR_1,HMMSmart_SM00671,HMMSmart_SM00028,superfamily_TPR-like SACS 26278 genome.wustl.edu 37 13 23912155 23912155 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014363.4 -1 reviewed p.D1954Y 1.000 96 0% 94 40.4% 0 - probably_damaging(0.992) deleterious(0.02) deleterious(0.831) NULL SACS 26278 genome.wustl.edu 37 13 23912323 23912323 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014363.4 -1 reviewed p.E1898* 1.000 116 0% 108 27.8% 2 0% - - - NULL NUPL1 9818 genome.wustl.edu 37 13 25883413 25883413 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014089.3 +1 reviewed p.L93F 1.000 45 0% 38 18.4% 1 100% possibly_damaging(0.45) tolerated(0.32) neutral(0.171) NULL ATP8A2 51761 genome.wustl.edu 37 13 26273425 26273425 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016529.4 +1 validated p.E776K 1.000 96 0% 98 34.7% 0 - benign(0.055) tolerated(0.08) neutral(0.303) superfamily_HAD-like GPR12 2835 genome.wustl.edu 37 13 27333417 27333417 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005288.3 -1 validated p.R183Q 0.001 31 0% 26 50% 0 - benign(0.002) tolerated(0.37) neutral(0.019) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FRY 10129 genome.wustl.edu 37 13 32721489 32721489 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_023037.2 +1 validated p.R417Q 1.000 66 0% 93 25.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FRY 10129 genome.wustl.edu 37 13 32783023 32783023 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_023037.2 +1 validated p.N1351S 0.922 112 0% 128 31.2% 0 - benign(0) tolerated(0.55) neutral(0.007) NULL FRY 10129 genome.wustl.edu 37 13 32821627 32821627 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_023037.2 +1 validated p.F2332 1.000 124 0% 118 24.6% 0 - - - - NULL LHFP 10186 genome.wustl.edu 37 13 40175086 40175086 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005780.2 -1 reviewed p.G90S 1.000 116 0% 160 21.2% 5 0% possibly_damaging(0.639) tolerated(0.07) deleterious(0.542) HMMPfam_L_HGMIC_fpl KIAA0564 23078 genome.wustl.edu 37 13 42385395 42385395 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015058.1 -1 validated p.L677F 1.000 179 0% 173 11% 2 0% benign(0.118) deleterious(0.03) neutral(0.374) superfamily_P-loop containing nucleoside triphosphate hydrolases CCDC122 160857 genome.wustl.edu 37 13 44411474 44411474 + Missense_Mutation SNP A A T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_144974.3 -1 validated p.I255N 1.000 146 0% 161 12.4% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HTR2A 3356 genome.wustl.edu 37 13 47409732 47409732 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000621.3 -1 reviewed p.S219L 0.554 168 0% 155 13.5% 0 - benign(0.208) tolerated(0.19) neutral(0.070) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HTR2A 3356 genome.wustl.edu 37 13 47469906 47469906 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000621.3 -1 reviewed p.T46A 1.000 194 0% 255 32.2% 0 - probably_damaging(0.995) tolerated(0.07) deleterious(0.776) superfamily_Family A G protein-coupled receptor-like CAB39L 81617 genome.wustl.edu 37 13 49924940 49924940 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001079670.1 -1 validated p.F168L 1.000 238 0% 253 27.7% 4 25% possibly_damaging(0.523) deleterious(0.03) deleterious(0.541) HMMPfam_Mo25,superfamily_ARM-type_fold SPRYD7 57213 genome.wustl.edu 37 13 50495696 50495696 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020456.2 -1 validated p.V137 1.000 83 0% 99 19.2% 26 73% - - - HMMPfam_SPRY,HMMSmart_SM00449 KCNRG 283518 genome.wustl.edu 37 13 50589732 50589732 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_173605.1 +1 validated p.L35 0.923 228 0% 220 34.1% 2 100% - - - HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain RNASEH2B 79621 genome.wustl.edu 37 13 51503712 51503712 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024570.2 +1 reviewed p.Q80K 1.000 77 0% 81 11.1% 35 20% probably_damaging(0.999) tolerated(0.35) deleterious(0.511) HMMPfam_RNase_H2-Ydr279 WDFY2 115825 genome.wustl.edu 37 13 52332385 52332385 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_052950.3 +1 reviewed p.F374 0.999 50 0% 82 23.2% 9 66.6% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 LOC341689 341689 genome.wustl.edu 37 13 59104453 59104453 + RNA SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XR_017487.3 +1 model NULL 0.085 234 0% 215 20.5% 0 - - - - - DIAPH3 81624 genome.wustl.edu 37 13 60384965 60384965 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001042517.1 -1 validated p.L1040 0.941 135 0% 164 32.3% 12 58.3% - - - HMMSmart_SM00498 DIAPH3 81624 genome.wustl.edu 37 13 60584769 60584769 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001042517.1 -1 validated p.S269N 1.000 104 0% 65 33.8% 1 100% probably_damaging(0.97) deleterious(0.04) deleterious(0.761) HMMPfam_Drf_GBD LOC121906 121906 genome.wustl.edu 37 13 98128099 98128099 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_002344083.1 +1 model p.G120 1.000 61 0% 61 32.8% 0 - - - - HMMPfam_Proteasome,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) IPO5 3843 genome.wustl.edu 37 13 98668014 98668014 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000469360 +1 known p.S826L 0.964 125 0% 175 28.6% 116 43.1% - - - superfamily_ARM repeat TM9SF2 9375 genome.wustl.edu 37 13 100169899 100169899 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004800.1 +1 provisional p.D68A 1.000 64 0% 70 37.1% 21 23.8% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL ERCC5 2073 genome.wustl.edu 37 13 103515335 103515335 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000123.2 +1 reviewed p.E612D 0.004 178 0% 170 39.4% 12 41.6% benign(0.002) tolerated(0.53) neutral(0.007) superfamily_PIN domain-like SLC10A2 6555 genome.wustl.edu 37 13 103718243 103718243 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000452.2 -1 reviewed p.V119 0.000 200 0.5% 206 27.7% 0 - - - - HMMPfam_SBF COL4A2 1284 genome.wustl.edu 37 13 111102753 111102753 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001846.2 +1 reviewed p.R431* 0.087 15 0% 33 30.3% 17 0% - - - HMMPfam_Collagen ARHGEF7 8874 genome.wustl.edu 37 13 111857651 111857651 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001113511.1 +1 reviewed p.D111N 1.000 49 0% 78 34.6% 1 0% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain PROZ 8858 genome.wustl.edu 37 13 113814465 113814465 + Nonsense_Mutation SNP G G T rs3024778 byCluster;byFrequency TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003891.1 +1 provisional p.E70* 1.000 61 0% 102 46.1% 0 - - - - HMMPfam_Gla,HMMSmart_SM00069,PatternScan_GLA_1,superfamily_GLA-domain ATP4B 496 genome.wustl.edu 37 13 114309194 114309194 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000705.3 -1 reviewed p.L59P 0.977 10 0% 34 17.6% 0 - benign(0.173) deleterious(0.01) neutral(0.422) HMMPfam_Na_K-ATPase OR4Q3 441669 genome.wustl.edu 37 14 20215626 20215626 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_172194.1 +1 provisional p.L14I 0.975 394 0.3% 330 32.7% 0 - possibly_damaging(0.895) deleterious(0.03) deleterious(0.718) superfamily_SSF81321 OR4M1 441670 genome.wustl.edu 37 14 20248736 20248736 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001005500.1 +1 provisional p.F85L 0.995 557 0.2% 509 31.6% 0 - benign(0.17) tolerated(1) neutral(0.015) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4K13 390433 genome.wustl.edu 37 14 20502032 20502032 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001004714.1 -1 provisional p.A296T 0.001 104 0% 82 29.3% 0 - benign(0.002) tolerated(0.6) neutral(0.004) superfamily_SSF81321 OR4K17 390436 genome.wustl.edu 37 14 20586408 20586408 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001004715.1 +1 provisional p.F281L 0.921 246 0% 207 35.7% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR6S1 341799 genome.wustl.edu 37 14 21108984 21108984 + Silent SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001001968.1 -1 provisional p.N289 1.000 219 0% 364 10.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 CMTM5 116173 genome.wustl.edu 37 14 23846538 23846538 + Missense_Mutation SNP C C G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_138460.2 +1 reviewed p.D26E 1.000 18 0% 31 32.3% 0 - probably_damaging(0.975) deleterious(0) deleterious(0.861) NULL MYH7 4625 genome.wustl.edu 37 14 23900677 23900677 + Missense_Mutation SNP C C T rs3218713 byCluster TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000257.2 -1 reviewed p.R249Q 1.000 117 0% 265 35.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases RNF31 55072 genome.wustl.edu 37 14 24620710 24620710 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017999.4 +1 validated p.S585F 0.032 20 0% 45 37.8% 34 47% possibly_damaging(0.508) deleterious(0.01) deleterious(0.576) NULL IPO4 79711 genome.wustl.edu 37 14 24651346 24651346 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024658.3 -1 validated p.E874D 1.000 14 0% 38 18.4% 85 54.1% benign(0.031) tolerated(0.31) neutral(0.029) superfamily_ARM repeat C14orf21 161424 genome.wustl.edu 37 14 24771468 24771468 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_174913.1 +1 provisional p.T327 0.129 174 0% 233 30% 2 50% - - - HMMPfam_PUF,HMMSmart_Pumilio,superfamily_ARM-type_fold G2E3 55632 genome.wustl.edu 37 14 31074996 31074996 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017769.3 +1 validated p.K432N 1.000 102 0% 92 32.6% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HECT,superfamily_HECT HECTD1 25831 genome.wustl.edu 37 14 31613289 31613289 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000261312 -1 known p.K936Q 0.002 32 0% 55 32.7% 0 - benign(0.067) deleterious(0.03) neutral(0.369) NULL HECTD1 25831 genome.wustl.edu 37 14 31637506 31637506 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015382.2 -1 validated p.I540M 1.000 219 0% 266 35% 0 - probably_damaging(0.966) deleterious(0) deleterious(0.853) superfamily_ARM repeat AKAP6 9472 genome.wustl.edu 37 14 33015867 33015867 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004274.4 +1 reviewed p.E670K 1.000 232 0% 225 35.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL BAZ1A 11177 genome.wustl.edu 37 14 35295280 35295280 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_013448.2 -1 validated p.E159* 1.000 63 0% 88 37.5% 0 - - - - NULL KIAA0391 9692 genome.wustl.edu 37 14 35736002 35736002 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014672.2 +1 provisional p.L449 0.992 130 0% 187 30.5% 56 37.5% - - - NULL KLHL28 54813 genome.wustl.edu 37 14 45414302 45414302 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017658.3 -1 validated p.R277Q 1.000 186 0% 197 34% 1 100% benign(0.017) tolerated(0.1) neutral(0.287) superfamily_Galactose oxidase central domain MGAT2 4247 genome.wustl.edu 37 14 50088956 50088957 + Frame_Shift_Ins INS - - C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002408.3 +1 reviewed p.R325fs 1.000:1.000 - - - - - - - - - HMMPfam_MGAT2,superfamily_Nucleotide-diphospho-sugar transferases SOS2 6655 genome.wustl.edu 37 14 50649313 50649313 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006939.2 -1 validated p.K242N 1.000 65 0% 111 30.6% 0 - benign(0) tolerated(0.53) neutral(0.007) HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain TMX1 81542 genome.wustl.edu 37 14 51713891 51713891 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_030755.4 +1 validated p.W132* 1.000 167 0% 174 39.7% 10 10% - - - superfamily_Thioredoxin-like NID2 22795 genome.wustl.edu 37 14 52520978 52520978 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007361.3 -1 validated p.D277N 1.000 82 0% 89 31.5% 0 - benign(0.251) tolerated(0.35) neutral(0.046) NULL SAMD4A 23034 genome.wustl.edu 37 14 55169136 55169136 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015589.4 +1 validated p.D184Y 1.000 94 0% 110 39.1% 1 0% probably_damaging(0.992) deleterious(0.02) deleterious(0.831) NULL KTN1 3895 genome.wustl.edu 37 14 56119646 56119646 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001079521.1 +1 validated p.G894 0.639 177 0% 141 31.9% 98 48.9% - - - NULL C14orf101 54916 genome.wustl.edu 37 14 57114036 57114036 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017799.3 +1 validated p.R649W 1.000 93 0% 98 23.5% 11 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL JKAMP 51528 genome.wustl.edu 37 14 59951259 59951259 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000442454 +1 known p.A6S 0.000 6 0.000 6 0.667 1 100% - - - NULL C14orf135 64430 genome.wustl.edu 37 14 60574495 60574495 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000404681 +1 known p.L47I 1.000 98 0% 79 17.7% 1 0% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL SYT16 83851 genome.wustl.edu 37 14 62536447 62536447 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_031914.2 +1 validated p.K217R 0.999 319 0% 364 28.8% 2 0% benign(0.022) deleterious(0) neutral(0.446) NULL KCNH5 27133 genome.wustl.edu 37 14 63453860 63453860 + Missense_Mutation SNP C C T rs148002630 TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_139318.3 -1 reviewed p.R160Q 1.000 206 0% 164 28% 0 - benign(0.138) deleterious(0.02) neutral(0.395) NULL SYNE2 23224 genome.wustl.edu 37 14 64540714 64540714 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_182914.2 +1 reviewed p.E3576* 0.996 274 0% 298 31.2% 0 - - - - NULL FUT8 2530 genome.wustl.edu 37 14 66028359 66028359 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_178154.1 +1 reviewed p.G26 1.000 293 0% 199 28.6% 2 50% - - - NULL GPHN 10243 genome.wustl.edu 37 14 67567593 67567593 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020806.4 +1 reviewed p.R420C 1.000 57 0% 48 33.3% 2 50% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_MoeA_N,superfamily_MoeA_N ZFYVE26 23503 genome.wustl.edu 37 14 68244886 68244886 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015346.3 -1 reviewed p.L1585R 1.000 199 0% 232 27.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_ZINC_FINGER_C2H2_1 RGS6 9628 genome.wustl.edu 37 14 72926360 72926360 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004296.4 +1 validated p.S121 0.000 37 0% 60 15% 1 100% - - - "superfamily_""Winged helix"" DNA-binding domain" DPF3 8110 genome.wustl.edu 37 14 73181152 73181152 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_012074.3 -1 provisional p.D195N 0.998 80 0% 154 29.9% 0 - possibly_damaging(0.838) deleterious(0.03) deleterious(0.684) superfamily_SSF57667 MLH3 27030 genome.wustl.edu 37 14 75513424 75513424 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001040108.1 -1 reviewed p.V979F 0.000 204 0% 252 34.1% 7 71.4% unknown(0) deleterious(0.03) - NULL MLH3 27030 genome.wustl.edu 37 14 75514328 75514328 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001040108.1 -1 reviewed p.T677 0.004 128 0% 175 29.7% 1 100% - - - NULL C14orf1 11161 genome.wustl.edu 37 14 76123750 76123750 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007176.2 -1 validated p.F32L 0.804 107 0% 133 34.6% 71 53.5% probably_damaging(0.996) tolerated(0.32) deleterious(0.486) HMMPfam_Erg28 C14orf118 55668 genome.wustl.edu 37 14 76620831 76620831 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017926.2 +1 validated p.R42H 1.000 72 1.4% 58 44.8% 2 100% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ZDHHC22 283576 genome.wustl.edu 37 14 77600273 77600273 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_174976.2 -1 validated p.E182A 1.000 6 0.000 14 0.286 0 - benign(0.055) tolerated(0.08) neutral(0.303) NULL POMT2 29954 genome.wustl.edu 37 14 77765877 77765877 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_013382.5 -1 reviewed p.R282C 1.000 56 0% 113 38.9% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PMT SLIRP 81892 genome.wustl.edu 37 14 78177192 78177192 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_031210.4 +1 validated p.E37* 1.000 145 0% 235 18.3% 294 6.8% - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 NRXN3 9369 genome.wustl.edu 37 14 79434674 79434674 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004796.4 +1 reviewed p.E670K 1.000 103 0% 78 30.8% 0 - benign(0.292) tolerated(0.37) neutral(0.109) superfamily_ConA_like_lec_gl C14orf159 80017 genome.wustl.edu 37 14 91662798 91662798 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001102368.1 +1 validated p.N425 0.151 25 0% 75 32% 62 43.5% - - - NULL TC2N 123036 genome.wustl.edu 37 14 92251541 92251541 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001128595.1 -1 validated p.R443* 1.000 367 0% 337 40.9% 23 26% - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) TC2N 123036 genome.wustl.edu 37 14 92258712 92258712 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001128595.1 -1 validated p.S349F 1.000 205 0% 211 28.9% 17 35.2% possibly_damaging(0.819) tolerated(0.05) deleterious(0.655) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) TRIP11 9321 genome.wustl.edu 37 14 92480758 92480758 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004239.3 -1 reviewed p.R329S 0.173 130 0% 167 32.3% 1 0% benign(0.304) tolerated(0.15) neutral(0.336) NULL UBR7 55148 genome.wustl.edu 37 14 93685647 93685647 + Missense_Mutation SNP C C G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_175748.3 +1 validated p.D300E 0.987 62 0% 78 30.8% 24 29.1% possibly_damaging(0.895) tolerated(0.37) neutral(0.372) NULL BTBD7 55727 genome.wustl.edu 37 14 93709114 93709114 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001002860.2 -1 validated p.S968 0.024 86 0% 128 27.3% 0 - - - - NULL SERPINA10 51156 genome.wustl.edu 37 14 94756345 94756345 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001100607.1 -1 reviewed p.R196C 0.006 116 0% 132 28% 0 - possibly_damaging(0.866) deleterious(0.04) deleterious(0.684) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin TCL1A 8115 genome.wustl.edu 37 14 96178581 96178581 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001098725.1 -1 validated p.F91L 0.865 144 0% 215 26% 0 - probably_damaging(0.974) tolerated(0.78) neutral(0.417) HMMPfam_TCL1_MTCP1,superfamily_TCL1_MTCP1 ATG2B 55102 genome.wustl.edu 37 14 96784131 96784131 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018036.5 -1 validated p.N981H 1.000 232 0% 214 28% 0 - possibly_damaging(0.746) tolerated(0.2) neutral(0.323) NULL EIF5 1983 genome.wustl.edu 37 14 103805657 103805657 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001969.3 +1 validated p.R298H 1.000 114 0% 125 30.4% 66 36.3% benign(0.335) tolerated(0.14) neutral(0.355) HMMSmart_SM00515,superfamily_ARM repeat AHNAK2 113146 genome.wustl.edu 37 14 105412333 105412333 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_138420.2 -1 validated p.S3152L 0.029 26 0% 56 58.9% 0 - probably_damaging(0.999) tolerated(0.17) deleterious(0.549) NULL IGHV1-24 28467 genome.wustl.edu 37 14 106733326 106733326 + Nonsense_Mutation SNP G G A rs146235389 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000390610 -1 known p.R57* 0.899 394 0% 534 31.8% 3 0% - - - HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 OR4M2 390538 genome.wustl.edu 37 15 22369034 22369034 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001004719.2 +1 validated p.F153L 0.021 1592 0% 1294 13.1% 0 - possibly_damaging(0.523) tolerated(0.19) neutral(0.226) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4N4 283694 genome.wustl.edu 37 15 22383122 22383122 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001005241.1 +1 provisional p.S217Y 0.983 452 0% 478 12.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR4N4 283694 genome.wustl.edu 37 15 22383340 22383340 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001005241.1 +1 provisional p.R290C 0.642 278 0% 339 10.9% 0 - benign(0.233) deleterious(0.01) neutral(0.429) superfamily_SSF81321 NIPA2 81614 genome.wustl.edu 37 15 23012432 23012432 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001008860.2 -1 reviewed p.L99I 1.000 172 0% 272 21% 19 10.5% probably_damaging(0.966) deleterious(0) deleterious(0.853) HMMPfam_DUF803,superfamily_Multidrug resistance efflux transporter EmrE MAGEL2 54551 genome.wustl.edu 37 15 23889356 23889356 + Silent SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_019066.4 -1 reviewed p.A575 0.002 26 0% 39 28.2% 0 - - - - HMMPfam_MAGE ATP10A 57194 genome.wustl.edu 37 15 25932878 25932878 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024490.3 -1 reviewed p.M1088T 1.000 107 0% 203 33.5% 1 0% benign(0.009) deleterious(0.03) neutral(0.365) NULL GABRA5 2558 genome.wustl.edu 37 15 27126074 27126074 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000810.3 +1 reviewed p.L56 0.082 26 0% 54 31.5% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD HERC2 8924 genome.wustl.edu 37 15 28467335 28467335 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004667.4 -1 reviewed p.D1831Y 0.997 57 0% 98 9.2% 1 0% possibly_damaging(0.91) deleterious(0.03) deleterious(0.727) NULL ENSG00000206149 0 genome.wustl.edu 37 15 28886686 28886686 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000382946 +1 known p.R472Q 1.000 388 0% 516 17.1% 1 0% - - - NULL RYR3 6263 genome.wustl.edu 37 15 34042194 34042194 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001036.3 +1 validated p.V2738 0.136 47 0% 56 25% 0 - - - - HMMPfam_RyR C15orf24 56851 genome.wustl.edu 37 15 34376669 34376669 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020154.2 -1 validated p.N199H 1.000 171 0% 220 30.5% 161 37.8% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_DUF2012 PGBD4 161779 genome.wustl.edu 37 15 34395157 34395157 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152595.4 +1 validated p.S142L 0.354 92 0% 98 30.6% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL SLC12A6 9990 genome.wustl.edu 37 15 34553131 34553131 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_133647.1 -1 reviewed p.F136S 1.000 101 0% 157 31.8% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL AQR 9716 genome.wustl.edu 37 15 35174815 35174815 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014691.2 -1 validated p.R1018Q 1.000 153 0% 128 32% 17 41.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF52540 FSIP1 161835 genome.wustl.edu 37 15 39893089 39893089 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152597.4 -1 validated p.E580* 0.544 136 0% 123 37.4% 0 - - - - NULL BUB1B 701 genome.wustl.edu 37 15 40502378 40502378 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001211.5 +1 reviewed p.A784 0.044 100 0% 147 31.3% 23 34.7% - - - superfamily_Protein kinase-like (PK-like) FAM82A2 55177 genome.wustl.edu 37 15 41029328 41029328 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018145.1 -1 provisional p.T451 0.956 166 0% 299 30.4% 54 38.8% - - - superfamily_TPR-like SPINT1 6692 genome.wustl.edu 37 15 41148248 41148248 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_181642.2 +1 reviewed p.R442C 0.001 28 0% 56 26.8% 431 49.6% possibly_damaging(0.804) deleterious(0.02) deleterious(0.685) HMMPfam_Kunitz_BPTI,HMMSmart_SM00131,superfamily_BPTI-like RHOV 171177 genome.wustl.edu 37 15 41555061 41555061 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007236.4 +1 reviewed p.S110N 1.000 153 0% 210 32.9% 47 48.9% benign(0.015) tolerated(0.14) neutral(0.250) superfamily_EF-hand MGA 23269 genome.wustl.edu 37 15 41999948 41999948 + Silent SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001080541.2 +1 validated p.V737 1.000 65 0% 77 33.8% 0 - - - - NULL GANC 2595 genome.wustl.edu 37 15 42630604 42630604 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_198141.2 +1 reviewed p.D587N 1.000 201 0% 203 16.7% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases ZFP106 64397 genome.wustl.edu 37 15 42714724 42714724 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_022473.1 -1 provisional p.K1760T 1.000 123 0% 180 33.3% 6 50% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMSmart_WD40,superfamily_WD40_like,HMMSmart_PQQ,HMMPfam_WD40 TGM7 116179 genome.wustl.edu 37 15 43585075 43585075 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_052955.2 -1 validated p.A91T 0.999 39 0% 58 43.1% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Transglut_N,superfamily_Ig_E-set TP53BP1 7158 genome.wustl.edu 37 15 43784215 43784215 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001141980.1 -1 validated p.E91* 1.000 222 0% 318 29.6% 1 0% - - - NULL MAP1A 4130 genome.wustl.edu 37 15 43818847 43818847 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002373.5 +1 reviewed p.E1726K 1.000 40 0% 98 29.6% 0 - possibly_damaging(0.882) deleterious(0) deleterious(0.789) NULL SPATA5L1 79029 genome.wustl.edu 37 15 45707792 45707792 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024063.2 +1 validated p.R551Q 0.997 111 0% 124 32.3% 18 61.1% benign(0.008) tolerated(0.15) neutral(0.241) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases SHC4 399694 genome.wustl.edu 37 15 49118203 49118203 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_203349.3 -1 validated p.D620Y 0.919 322 0% 349 28.7% 0 - benign(0) tolerated(0.66) neutral(0.003) superfamily_SH2 domain FGF7 2252 genome.wustl.edu 37 15 49716625 49716625 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002009.3 +1 reviewed p.V44A 1.000 236 0% 190 31.6% 1 0% possibly_damaging(0.882) tolerated(0.37) neutral(0.363) NULL FGF7 2252 genome.wustl.edu 37 15 49776510 49776510 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002009.3 +1 reviewed p.E132K 1.000 124 0% 105 15.2% 0 - benign(0.011) tolerated(0.65) neutral(0.004) HMMPfam_FGF,HMMSmart_SM00442,PatternScan_HBGF_FGF,superfamily_Cytokine DTWD1 56986 genome.wustl.edu 37 15 49926772 49926772 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001144955.1 +1 validated p.K150E 0.996 274 0% 282 18.8% 31 12.9% benign(0) tolerated(0.97) - HMMPfam_DTW TNFAIP8L3 388121 genome.wustl.edu 37 15 51350092 51350092 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_207381.2 -1 provisional p.E289* 1.000 99 0% 124 25.8% 2 50% - - - HMMPfam_DUF758 PIGB 9488 genome.wustl.edu 37 15 55643036 55643036 + Silent SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004855.4 +1 reviewed p.V421 0.295 154 0% 164 35.4% 5 40% - - - HMMPfam_Glyco_transf_22 PYGO1 26108 genome.wustl.edu 37 15 55841157 55841157 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015617.1 -1 provisional p.G29D 1.000 229 0.4% 226 34.1% 1 100% benign(0.388) deleterious(0.03) deleterious(0.488) NULL RFX7 64864 genome.wustl.edu 37 15 56387541 56387541 + Silent SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_022841.5 -1 validated p.S795 0.966 252 0% 184 35.9% 0 - - - - NULL CGNL1 84952 genome.wustl.edu 37 15 57731216 57731216 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032866.3 +1 validated p.G340E 1.000 142 0% 127 29.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GCOM1 145781 genome.wustl.edu 37 15 57896505 57896505 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001018090.1 +1 reviewed p.E38D 0.095 122 0% 142 16.9% 1 0% benign(0.014) deleterious(0) neutral(0.445) NULL CCNB2 9133 genome.wustl.edu 37 15 59408985 59408985 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004701.2 +1 reviewed p.D232Y 1.000 255 0% 269 30.9% 107 42.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like NARG2 79664 genome.wustl.edu 37 15 60748862 60748862 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024611.4 -1 validated p.L220 0.323 102 0% 99 28.3% 3 100% - - - NULL VPS13C 54832 genome.wustl.edu 37 15 62270920 62270920 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020821.1 -1 validated p.K732T 0.435 189 0% 170 34.7% 0 - benign(0.03) tolerated(0.08) neutral(0.301) NULL LOC100289289 100289289 genome.wustl.edu 37 15 62546496 62546496 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_002343368.1 -1 model p.N762H 1.000 19 0% 21 33.3% 0 - - - - NULL RAB8B 51762 genome.wustl.edu 37 15 63548721 63548721 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016530.2 +1 validated p.V114 1.000 90 0% 82 29.3% 3 0% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMSmart_SM00177,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases LOC100130855 100130855 genome.wustl.edu 37 15 63848988 63848988 + RNA SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XR_078495.1 -1 model NULL 0.000 18 0% 35 22.9% 0 - - - - - DENND4A 10260 genome.wustl.edu 37 15 65964167 65964167 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001144823.1 -1 validated p.A1475V 0.970 116 0% 117 31.6% 1 100% benign(0) deleterious(0.05) neutral(0.345) NULL AAGAB 79719 genome.wustl.edu 37 15 67495183 67495183 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024666.3 -1 validated p.G308 1.000 120 0% 126 15.9% 39 28.2% - - - NULL MYO9A 4649 genome.wustl.edu 37 15 72324929 72324929 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006901.2 -1 validated p.A281T 1.000 111 0% 111 33.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases ADPGK 83440 genome.wustl.edu 37 15 73044839 73044839 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_031284.4 -1 validated p.L445S 0.203 130 0% 108 33.3% 19 42.1% possibly_damaging(0.433) deleterious(0.04) deleterious(0.490) HMMPfam_ADP_PFK_GK,superfamily_SSF53613 ENSG00000233166 0 genome.wustl.edu 37 15 75594985 75594985 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000454231 -1 known p.A12 0.974 29 0% 49 34.7% 0 - - - - NULL CSPG4 1464 genome.wustl.edu 37 15 75968105 75968105 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001897.4 -1 reviewed p.T2252M 0.990 8 0.000 52 0.308 10 10% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ETFA 2108 genome.wustl.edu 37 15 76508916 76508916 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000126.3 -1 reviewed p.I329T 0.227 34 0% 54 25.9% 142 47.8% benign(0) tolerated(0.28) neutral(0.032) superfamily_DHS-like NAD/FAD-binding domain SGK269 79834 genome.wustl.edu 37 15 77471399 77471399 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024776.2 -1 validated p.G957D 1.000 144 0% 152 32.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1199 57214 genome.wustl.edu 37 15 81212487 81212487 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018689.1 +1 validated p.D617A 1.000 49 0% 102 27.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC647020 647020 genome.wustl.edu 37 15 81410530 81410530 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_001719614.2 -1 model p.F89C 1.000 36 0% 84 26.2% 0 - - - - superfamily_L domain-like BNC1 646 genome.wustl.edu 37 15 83933080 83933080 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001717.3 -1 reviewed p.P308L 0.979 110 0% 78 35.9% 0 - probably_damaging(0.974) tolerated(1) neutral(0.416) NULL ZNF592 9640 genome.wustl.edu 37 15 85341672 85341672 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014630.2 +1 validated p.F901 1.000 29 0% 62 25.8% 17 58.8% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 AKAP13 11214 genome.wustl.edu 37 15 86205640 86205640 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006738.4 +1 reviewed p.G1589 1.000 166 0% 171 29.8% 1 0% - - - NULL IQGAP1 8826 genome.wustl.edu 37 15 91016190 91016190 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003870.3 +1 reviewed p.R766Q 0.964 126 0% 169 14.8% 7 28.5% benign(0.003) tolerated(0.61) neutral(0.004) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases CRTC3 64784 genome.wustl.edu 37 15 91184374 91184374 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_022769.3 +1 validated p.H532N 0.040 17 0% 17 23.5% 2 0% possibly_damaging(0.891) tolerated(0.35) neutral(0.371) NULL BLM 641 genome.wustl.edu 37 15 91292703 91292703 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000057.2 +1 reviewed p.E69K 0.000 194 0% 201 29.4% 0 - probably_damaging(0.99) tolerated(0.52) neutral(0.450) NULL SV2B 9899 genome.wustl.edu 37 15 91795664 91795664 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014848.4 +1 validated p.G233E 1.000 52 0% 57 22.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLCO3A1 28232 genome.wustl.edu 37 15 92669338 92669338 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_013272.3 +1 validated p.L408I 0.993 102 0% 131 29% 9 44.4% probably_damaging(0.998) tolerated(0.14) deleterious(0.724) HMMPfam_OATP,superfamily_MFS general substrate transporter CHD2 1106 genome.wustl.edu 37 15 93467575 93467575 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001271.3 +1 reviewed p.S29 0.848 258 0.4% 337 33.8% 3 66.6% - - - NULL NR2F2 7026 genome.wustl.edu 37 15 96877406 96877406 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_021005.3 +1 reviewed p.I182L 1.000 26 0% 45 46.7% 24 29.1% possibly_damaging(0.887) tolerated(0.09) deleterious(0.643) superfamily_Nuclear receptor ligand-binding domain,HMMPfam_zf-C4_C ADAMTS17 170691 genome.wustl.edu 37 15 100514743 100514743 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_139057.2 -1 reviewed p.R1051Q 1.000 20 0% 37 24.3% 1 0% benign(0.061) tolerated(0.15) neutral(0.245) HMMPfam_PLAC SRRM2 23524 genome.wustl.edu 37 16 2814932 2814932 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016333.3 +1 validated p.D1468A 0.814 221 0% 623 30.8% 22 54.5% unknown(0) - - NULL OR2C1 4993 genome.wustl.edu 37 16 3405993 3405993 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_012368.2 +1 validated p.S18L 0.983 123 0% 210 33.8% 0 - possibly_damaging(0.793) deleterious(0) deleterious(0.742) superfamily_Family A G protein-coupled receptor-like ADCY9 115 genome.wustl.edu 37 16 4164273 4164273 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001116.2 -1 reviewed p.E391K 1.000 36 0% 32 15.6% 0 - probably_damaging(1) tolerated(0.15) deleterious(0.741) HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain NMRAL1 57407 genome.wustl.edu 37 16 4511942 4511942 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020677.3 -1 provisional p.E247K 1.000 18 0% 45 31.1% 256 40.6% benign(0.251) tolerated(0.52) neutral(0.034) superfamily_NAD(P)-bd GRIN2A 2903 genome.wustl.edu 37 16 9858336 9858336 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000833.3 -1 reviewed p.R1022H 1.000 167 0% 174 40.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_NMDAR2_C GRIN2A 2903 genome.wustl.edu 37 16 9892164 9892164 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000833.3 -1 reviewed p.D776N 1.000 45 0% 63 22.2% 0 - probably_damaging(0.953) tolerated(0.3) neutral(0.425) HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II GRIN2A 2903 genome.wustl.edu 37 16 10031828 10031828 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000833.3 -1 reviewed p.H332R 1.000 78 0% 87 29.9% 0 - benign(0.038) tolerated(0.49) neutral(0.013) superfamily_Periplasmic binding protein-like I EMP2 2013 genome.wustl.edu 37 16 10626882 10626882 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001424.4 -1 validated p.A128 0.000 51 0% 78 34.6% 217 39.6% - - - HMMPfam_PMP22_Claudin KIAA0430 9665 genome.wustl.edu 37 16 15710962 15710962 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014647.3 -1 validated p.A1008 0.128 200 0% 354 33.9% 0 - - - - NULL XYLT1 64131 genome.wustl.edu 37 16 17353332 17353332 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_022166.3 -1 reviewed p.P142 0.043 131 0% 150 28.7% 0 - - - - NULL ACSM2A 123876 genome.wustl.edu 37 16 20480978 20480978 + Missense_Mutation SNP G G T rs185396407 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001010845.2 +1 validated p.R178I 0.963 554 0% 627 30% 0 - possibly_damaging(0.78) deleterious(0.02) deleterious(0.674) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSM1 116285 genome.wustl.edu 37 16 20693784 20693784 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_052956.2 -1 validated p.G135 0.054 122 0% 162 32.1% 0 - - - - HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like DNAH3 55567 genome.wustl.edu 37 16 20994085 20994085 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017539.1 -1 provisional p.K2606T 0.999 33 0% 59 30.5% 0 - benign(0.019) tolerated(0.17) neutral(0.060) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH3 55567 genome.wustl.edu 37 16 21093012 21093012 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017539.1 -1 provisional p.E972K 0.984 187 0% 212 35.8% 0 - benign(0.004) tolerated(0.85) neutral(0.001) HMMPfam_DHC_N2 UQCRC2 7385 genome.wustl.edu 37 16 21994410 21994410 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003366.2 +1 validated p.A427V 1.000 81 0% 80 13.8% 463 24.8% benign(0.13) tolerated(0.76) neutral(0.012) superfamily_LuxS/MPP-like metallohydrolase SCNN1G 6340 genome.wustl.edu 37 16 23208689 23208689 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001039.3 +1 reviewed p.V340I 0.998 73 0% 84 35.7% 7 28.5% benign(0) tolerated(1) - HMMPfam_ASC PALB2 79728 genome.wustl.edu 37 16 23640560 23640560 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024675.3 -1 reviewed p.N851H 0.004 73 0% 131 27.5% 6 50% benign(0.006) tolerated(0.28) neutral(0.032) superfamily_WD40_like XPO6 23214 genome.wustl.edu 37 16 28123225 28123225 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015171.2 -1 provisional p.A752T 0.900 31 0% 36 36.1% 24 33.3% benign(0) tolerated(0.61) neutral(0.004) superfamily_ARM repeat APOBR 55911 genome.wustl.edu 37 16 28508359 28508359 + Missense_Mutation SNP G G A rs143668661 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018690.2 +1 reviewed p.R657Q 0.000 8 0.000 36 0.472 5 80% benign(0.051) tolerated(0.64) neutral(0.006) NULL FBRS 64319 genome.wustl.edu 37 16 30679892 30679892 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001105079.1 +1 validated p.R176C 1.000 24 0% 16 25% 31 45.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SRCAP 10847 genome.wustl.edu 37 16 30718621 30718621 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006662.2 +1 validated p.E142K 1.000 31 0% 78 10.3% 2 50% unknown(0) - - HMMPfam_HSA,HMMSmart_SM00573 PRSS8 5652 genome.wustl.edu 37 16 31143491 31143491 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002773.3 -1 reviewed p.R291C 0.001 5 0.000 38 0.158 658 14.4% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL MYLK3 91807 genome.wustl.edu 37 16 46761267 46761267 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_182493.2 -1 validated p.D599N 1.000 34 0% 66 30.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ABCC12 94160 genome.wustl.edu 37 16 48138169 48138169 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_033226.2 -1 reviewed p.E928D 1.000 67 0% 108 30.6% 0 - possibly_damaging(0.948) tolerated(0.1) deleterious(0.677) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain PAPD5 64282 genome.wustl.edu 37 16 50245299 50245299 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001040284.2 +1 validated p.R11Q 1.000 76 0% 67 26.9% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Nucleotidyltransferase CYLD 1540 genome.wustl.edu 37 16 50788285 50788285 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015247.2 +1 reviewed p.F288C 1.000 74 0% 74 40.5% 5 20% benign(0.345) deleterious(0) deleterious(0.553) HMMPfam_CAP_GLY,superfamily_Cap-Gly domain FTO 79068 genome.wustl.edu 37 16 54145785 54145785 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001080432.2 +1 reviewed p.I492 0.035 201 0% 304 28.3% 3 0% - - - NULL GPR97 222487 genome.wustl.edu 37 16 57719645 57719645 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_170776.4 +1 validated p.V449 0.873 36 0% 86 29.1% 0 - - - - HMMPfam_7tm_2 SETD6 79918 genome.wustl.edu 37 16 58552344 58552344 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024860.2 +1 validated p.R314H 1.000 38 0% 22 40.9% 32 50% probably_damaging(0.983) tolerated(0.18) deleterious(0.485) superfamily_RuBisCo LSMT C-terminal substrate-binding domain CNOT1 23019 genome.wustl.edu 37 16 58577366 58577366 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_206999.1 -1 validated p.D1527Y 0.000 49 0% 53 26.4% 5 0% benign(0) - - NULL CTCF 10664 genome.wustl.edu 37 16 67655479 67655479 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006565.2 +1 reviewed p.R448* 1.000 87 0% 191 30.4% 5 20% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers GFOD2 81577 genome.wustl.edu 37 16 67709476 67709476 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_030819.3 -1 validated p.F247S 1.000 30 0% 69 39.1% 15 53.3% possibly_damaging(0.529) tolerated(0.15) neutral(0.419) HMMPfam_GFO_IDH_MocA_C,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain EDC4 23644 genome.wustl.edu 37 16 67916940 67916940 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014329.3 +1 validated p.A1237T 0.724 8 0.000 25 0.320 146 48.6% benign(0) tolerated(0.65) neutral(0.003) NULL ZFP90 146198 genome.wustl.edu 37 16 68597759 68597759 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_133458.2 +1 provisional p.E357K 1.000 135 0% 179 20.7% 3 0% benign(0.048) tolerated(0.09) neutral(0.299) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFP90 146198 genome.wustl.edu 37 16 68598588 68598588 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_133458.2 +1 provisional p.R633Q 1.000 156 0% 168 32.7% 2 50% probably_damaging(0.985) deleterious(0.01) deleterious(0.838) superfamily_C2H2 and C2HC zinc fingers HP 3240 genome.wustl.edu 37 16 72094270 72094270 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005143.3 +1 reviewed p.E234 1.000 83 0% 153 31.4% 552 46.3% - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys ZFHX3 463 genome.wustl.edu 37 16 72822233 72822233 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006885.3 -1 reviewed p.G3314 1.000 57 0% 52 30.8% 13 7.6% - - - NULL ZFHX3 463 genome.wustl.edu 37 16 72845838 72845838 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006885.3 -1 reviewed p.R1210Q 1.000 225 0% 249 29.3% 0 - unknown(0) - - NULL FA2H 79152 genome.wustl.edu 37 16 74752910 74752910 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024306.4 -1 reviewed p.F254 0.885 34 0% 85 21.2% 12 50% - - - HMMPfam_FA_hydroxylase WDR59 79726 genome.wustl.edu 37 16 74908203 74908203 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_030581.3 -1 validated p.H943 0.987 25 0% 28 39.3% 33 33.3% - - - NULL CNTNAP4 85445 genome.wustl.edu 37 16 76532582 76532582 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_138994.3 +1 validated p.Q713* 0.414 104 1% 114 31.6% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases ATMIN 23300 genome.wustl.edu 37 16 81076021 81076021 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015251.2 +1 validated p.A200T 1.000 97 0% 102 30.4% 4 25% probably_damaging(0.995) tolerated(0.07) deleterious(0.776) HMMSmart_SM00355 PLCG2 5336 genome.wustl.edu 37 16 81954809 81954809 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002661.2 +1 validated p.D748Y 1.000 92 0% 115 33.9% 9 33.3% possibly_damaging(0.482) deleterious(0) deleterious(0.605) superfamily_SH3,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SSF50729,superfamily_SSF55550 MLYCD 23417 genome.wustl.edu 37 16 83945881 83945881 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_012213.2 +1 reviewed p.A286V 1.000 27 0% 48 25% 14 21.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MCD DNAAF1 123872 genome.wustl.edu 37 16 84205874 84205874 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_178452.4 +1 reviewed p.P513S 0.000 15 0% 33 27.3% 8 75% benign(0.135) tolerated(0.77) neutral(0.013) NULL FOXL1 2300 genome.wustl.edu 37 16 86612649 86612649 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005250.2 +1 validated p.F107S 1.000 19 0% 43 27.9% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Fork_head,HMMSmart_FH,superfamily_SSF46785 ZNF778 197320 genome.wustl.edu 37 16 89294417 89294417 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_182531.2 +1 validated p.S546L 0.000 110 0% 250 34.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SMG6 23293 genome.wustl.edu 37 17 1972142 1972142 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017575.4 -1 validated p.F1255L 1.000 7 0.000 22 0.318 24 50% probably_damaging(0.954) deleterious(0.02) deleterious(0.780) HMMSmart_SM00670,superfamily_PIN domain-like CTNS 1497 genome.wustl.edu 37 17 3563924 3563924 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001031681.2 +1 reviewed p.R367C 0.237 10 0.000 9 0.444 11 27.2% benign(0.003) deleterious(0.03) neutral(0.364) NULL ZMYND15 84225 genome.wustl.edu 37 17 4645733 4645733 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001136046.1 +1 provisional p.A364V 1.000 35 0% 105 33.3% 0 - benign(0.15) tolerated(0.08) neutral(0.313) NULL ZNF232 7775 genome.wustl.edu 37 17 5009459 5009459 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014519.2 -1 validated p.K332T 0.000 73 0% 139 36% 21 28.5% unknown(0) tolerated(0.18) - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF594 84622 genome.wustl.edu 37 17 5087196 5087196 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032530.1 -1 validated p.K119T 0.646 131 0% 182 37.4% 1 0% possibly_damaging(0.911) tolerated(0.2) neutral(0.412) HMMSmart_ZnF_C2H2,superfamily_SSF57667 NLRP1 22861 genome.wustl.edu 37 17 5462355 5462355 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_033004.3 -1 reviewed p.Y554C 0.000 106 0% 148 28.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PITPNM3 83394 genome.wustl.edu 37 17 6364709 6364709 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_031220.3 -1 reviewed p.R825H 1.000 20 0% 46 37% 1 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_LNS2,HMMSmart_SM00775,superfamily_HAD-like KIAA0753 9851 genome.wustl.edu 37 17 6493947 6493947 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014804.2 -1 validated p.Q815P 0.035 78 0% 101 33.7% 9 0% possibly_damaging(0.677) deleterious(0) deleterious(0.685) NULL TMEM95 339168 genome.wustl.edu 37 17 7259722 7259722 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_198154.1 +1 provisional p.L149I 1.000 73 0% 191 22% 0 - possibly_damaging(0.722) - - NULL CD68 968 genome.wustl.edu 37 17 7483303 7483303 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001251.2 +1 reviewed p.T75 0.000 42 0% 84 25% 10 20% - - - HMMPfam_Lamp DNAH2 146754 genome.wustl.edu 37 17 7674139 7674139 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020877.2 +1 validated p.R1417H 0.871 98 1% 216 28.2% 2 50% benign(0.053) tolerated(0.13) neutral(0.256) HMMPfam_DHC_N2 DNAH2 146754 genome.wustl.edu 37 17 7674666 7674666 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020877.2 +1 validated p.D1461Y 1.000 65 0% 110 37.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DHC_N2 DNAH2 146754 genome.wustl.edu 37 17 7705015 7705015 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020877.2 +1 validated p.G2940E 0.991 74 0% 149 38.3% 0 - possibly_damaging(0.852) tolerated(0.19) neutral(0.377) superfamily_P-loop containing nucleoside triphosphate hydrolases CHD3 1107 genome.wustl.edu 37 17 7813831 7813831 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000439235 +1 known p.R236C 1.000 44 0% 80 37.5% 176 46% unknown(0) deleterious(0.01) - HMMPfam_CHDCT2 ALOX15B 247 genome.wustl.edu 37 17 7950374 7950374 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001141.2 +1 reviewed p.Q479 0.468 35 0% 89 41.6% 0 - - - - HMMPfam_Lipoxygenase,superfamily_Lipoxigenase MYH1 4619 genome.wustl.edu 37 17 10399439 10399439 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005963.3 -1 reviewed p.R1666Q 1.000 201 0% 175 32% 0 - benign(0.017) tolerated(0.06) neutral(0.323) HMMPfam_Myosin_tail_1 MYH1 4619 genome.wustl.edu 37 17 10400422 10400422 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005963.3 -1 reviewed p.E1540D 0.998 155 0% 135 37.8% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Myosin_tail_1 MYH1 4619 genome.wustl.edu 37 17 10411797 10411797 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005963.3 -1 reviewed p.A594S 0.000 71 0% 84 36.9% 0 - benign(0) tolerated(0.46) neutral(0.012) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 TEKT3 64518 genome.wustl.edu 37 17 15231385 15231385 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_031898.2 -1 reviewed p.R196Q 1.000 267 0% 318 13.5% 1 0% benign(0.003) tolerated(0.43) neutral(0.013) HMMPfam_Tektin CCDC144A 9720 genome.wustl.edu 37 17 16608558 16608558 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014695.1 +1 provisional p.S170* 0.028 424 0% 508 19.5% 0 - - - - NULL MYO15A 51168 genome.wustl.edu 37 17 18067133 18067133 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000418233 +1 known p.S5Y 1.000 12 0% 21 28.6% 0 - unknown(0) - - NULL LGALS9C 654346 genome.wustl.edu 37 17 18387193 18387193 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001040078.2 +1 validated p.V15A 0.647 65 0% 128 16.4% 0 - benign(0.018) deleterious(0) neutral(0.445) HMMSmart_SM00276,superfamily_Concanavalin A-like lectins/glucanases FBXW10 10517 genome.wustl.edu 37 17 18682560 18682560 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_031456.3 +1 validated p.T1035 0.980 88 0% 144 30.6% 1 100% - - - NULL CCDC144NL 339184 genome.wustl.edu 37 17 20799111 20799111 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001004306.1 -1 provisional p.D75N 0.003 72 0% 144 19.4% 0 - possibly_damaging(0.922) deleterious(0.05) deleterious(0.717) NULL DHRS13 147015 genome.wustl.edu 37 17 27228258 27228258 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_144683.3 -1 validated p.I144 0.575 23 0% 66 22.7% 25 48% - - - HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains SSH2 85464 genome.wustl.edu 37 17 27963303 27963303 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_033389.2 -1 reviewed p.D622Y 1.000 152 0% 213 38% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NSRP1 84081 genome.wustl.edu 37 17 28511765 28511765 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032141.2 +1 validated p.F250 0.993 186 0% 186 31.2% 19 36.8% - - - NULL SLC6A4 6532 genome.wustl.edu 37 17 28530328 28530328 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001045.4 -1 reviewed p.P560 0.689 125 0% 162 34% 0 - - - - HMMPfam_SNF OMG 4974 genome.wustl.edu 37 17 29622074 29622074 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002544.4 -1 validated p.A426T 0.054 551 0% 514 33.3% 0 - benign(0) tolerated(0.06) neutral(0.323) NULL NF1 4763 genome.wustl.edu 37 17 29653179 29653179 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001042492.2 +1 reviewed p.L1726R 0.998 155 0% 129 27.9% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00516 SUZ12 23512 genome.wustl.edu 37 17 30320913 30320913 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015355.2 +1 reviewed p.Q441H 0.960 94 0% 105 22.9% 11 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYO1D 4642 genome.wustl.edu 37 17 31087410 31087410 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015194.1 -1 provisional p.F398 1.000 835 0% 828 32.4% 3 33.3% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases SLFN5 162394 genome.wustl.edu 37 17 33591578 33591578 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_144975.3 +1 validated p.S505 0.000 109 0% 168 36.9% 12 50% - - - NULL SLFN12 55106 genome.wustl.edu 37 17 33749312 33749312 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018042.3 -1 validated p.E246* 0.000 284 0% 316 32.3% 1 0% - - - HMMPfam_AAA_4 SLFN12L 100506736 genome.wustl.edu 37 17 33849343 33849343 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001145027.1 -1 validated p.R19I 0.000 145 0% 198 35.4% 0 - unknown(0) deleterious(0.01) - NULL GGNBP2 79893 genome.wustl.edu 37 17 34916663 34916663 + Missense_Mutation SNP A A T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024835.2 +1 validated p.K160M 1.000 123 0% 203 10.8% 11 45.4% probably_damaging(0.97) deleterious(0.01) deleterious(0.818) NULL ACACA 31 genome.wustl.edu 37 17 35578754 35578754 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_198834.1 -1 reviewed p.R1192* 1.000 143 0% 102 30.4% 2 0% - - - HMMPfam_ACC_central WNK4 65266 genome.wustl.edu 37 17 40945619 40945619 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032387.4 +1 reviewed p.E723K 1.000 74 0% 188 35.6% 0 - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) NULL SPPL2C 162540 genome.wustl.edu 37 17 43923486 43923486 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_175882.2 +1 validated p.A405V 1.000 24 0% 86 29.1% 0 - benign(0) tolerated(1) - HMMSmart_SM00730,HMMPfam_Peptidase_A22B LRRC37A2 474170 genome.wustl.edu 37 17 44626546 44626546 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001006607.2 +1 validated p.A1347 0.005 116 0% 179 10.6% 3 0% - - - NULL CDC27 996 genome.wustl.edu 37 17 45214585 45214585 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001114091.1 -1 reviewed p.E622* 1.000 83 0% 116 21.6% 5 0% - - - HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like KPNB1 3837 genome.wustl.edu 37 17 45755744 45755744 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000290158 +1 known p.V773A 1.000 116 0% 178 34.8% 248 47.9% benign(0.083) tolerated(0.07) neutral(0.325) superfamily_ARM repeat CBX1 10951 genome.wustl.edu 37 17 46154232 46154232 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001127228.1 -1 reviewed p.F45L 1.000 131 0% 200 31% 37 45.9% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_Chromo,HMMSmart_SM00298,PatternScan_CHROMO_1,superfamily_Chromo domain-like IGF2BP1 10642 genome.wustl.edu 37 17 47118747 47118747 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006546.3 +1 reviewed p.E276K 1.000 57 0% 138 34.1% 0 - benign(0.419) deleterious(0.01) deleterious(0.542) HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I) CACNA1G 8913 genome.wustl.edu 37 17 48696108 48696108 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018896.3 +1 validated p.F1840 0.994 12 0% 37 35.1% 1 100% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels ANKFN1 162282 genome.wustl.edu 37 17 54517729 54517729 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_153228.2 +1 validated p.E321* 1.000 118 0% 143 34.3% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III COIL 8161 genome.wustl.edu 37 17 55027901 55027901 + Silent SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004645.2 -1 reviewed p.G234 0.022 146 0% 219 11% 10 10% - - - NULL AKAP1 8165 genome.wustl.edu 37 17 55187411 55187411 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003488.3 +1 reviewed p.S580 0.042 50 0% 69 33.3% 21 57.1% - - - NULL MRPS23 51649 genome.wustl.edu 37 17 55917273 55917273 + Silent SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016070.2 -1 reviewed p.S148 0.105 177 0% 266 28.9% 274 45.9% - - - NULL C17orf47 284083 genome.wustl.edu 37 17 56620466 56620466 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001038704.1 -1 predicted p.K361T 0.001 75 0% 96 31.2% 0 - probably_damaging(0.988) - - NULL TEX14 56155 genome.wustl.edu 37 17 56657088 56657088 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_198393.2 -1 reviewed p.S1099L 0.950 68 0% 75 32% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL USP32 84669 genome.wustl.edu 37 17 58348773 58348773 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032582.3 -1 validated p.R214Q 1.000 97 0% 98 30.6% 0 - probably_damaging(0.997) tolerated(0.74) neutral(0.468) superfamily_SSF47473 FTSJ3 117246 genome.wustl.edu 37 17 61898928 61898928 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017647.3 -1 reviewed p.R558W 0.987 156 0% 283 33.9% 30 30% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL POLG2 11232 genome.wustl.edu 37 17 62489027 62489027 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007215.3 -1 reviewed p.R225Q 0.000 120 0% 239 31% 3 33.3% benign(0.017) tolerated(0.19) neutral(0.050) superfamily_SSF55681 LOC100289243 100289243 genome.wustl.edu 37 17 62746678 62746678 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_002343577.1 +1 model p.P102 0.994 64 0% 84 35.7% 10 50% - - - HMMPfam_Sec63,HMMSmart_SM00611 RGS9 8787 genome.wustl.edu 37 17 63193350 63193350 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003835.3 +1 reviewed p.E323* 1.000 69 0% 87 31% 1 0% - - - HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS CEP112 201134 genome.wustl.edu 37 17 64059106 64059106 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_145036.3 -1 validated p.S350Y 1.000 292 0% 347 23.9% 0 - probably_damaging(0.996) tolerated(0.12) deleterious(0.722) NULL ABCA8 10351 genome.wustl.edu 37 17 66937090 66937090 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007168.2 -1 reviewed p.S37* 0.003 113 0% 105 32.4% 1 0% - - - NULL ABCA6 23460 genome.wustl.edu 37 17 67101675 67101675 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_080284.2 -1 reviewed p.E890K 0.011 146 0% 113 35.4% 2 0% benign(0.002) tolerated(0.18) neutral(0.056) NULL ABCA10 10349 genome.wustl.edu 37 17 67190014 67190014 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_080282.3 -1 reviewed p.E488* 1.000 175 0% 207 31.4% 0 - - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases TRIM47 91107 genome.wustl.edu 37 17 73870695 73870695 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_033452.2 -1 validated p.R596C 0.998 6 0.000 21 0.333 132 47.7% benign(0.307) deleterious(0) deleterious(0.540) NULL QRICH2 84074 genome.wustl.edu 37 17 74276783 74276783 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032134.1 -1 provisional p.L1305 0.212 6 0.000 24 0.417 1 100% - - - NULL RNF213 57674 genome.wustl.edu 37 17 78332269 78332269 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000508628 +1 known p.N3682D 0.000 24 0% 56 42.9% 5 40% benign(0.025) tolerated(0.23) neutral(0.043) NULL USP14 9097 genome.wustl.edu 37 18 203147 203147 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005151.3 +1 reviewed p.F331C 1.000 265 0% 215 28.4% 18 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_SSF54001 THOC1 9984 genome.wustl.edu 37 18 214894 214894 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005131.2 -1 validated p.V569A 1.000 264 0% 258 39.5% 95 51.5% possibly_damaging(0.617) tolerated(0.1) deleterious(0.501) HMMSmart_DEATH,superfamily_DEATH_like EMILIN2 84034 genome.wustl.edu 37 18 2891059 2891059 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032048.2 +1 validated p.E312K 0.006 62 0% 101 33.7% 1 0% possibly_damaging(0.633) tolerated(0.63) neutral(0.225) NULL MYOM1 8736 genome.wustl.edu 37 18 3100327 3100327 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003803.3 -1 reviewed p.D1225N 1.000 50 0% 87 32.2% 0 - benign(0.218) tolerated(0.26) neutral(0.056) HMMSmart_SM00409,HMMPfam_V-set PTPRM 5797 genome.wustl.edu 37 18 8076512 8076512 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001105244.1 +1 reviewed p.L501I 1.000 110 0% 86 14% 2 0% benign(0.096) tolerated(0.16) neutral(0.067) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III APCDD1 147495 genome.wustl.edu 37 18 10487854 10487854 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_153000.4 +1 validated p.R455I 1.000 46 0% 57 24.6% 87 1.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NAPG 8774 genome.wustl.edu 37 18 10526103 10526103 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003826.2 +1 reviewed p.A2T 1.000 24 0% 35 22.9% 3 66.6% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL SLMO1 10650 genome.wustl.edu 37 18 12427106 12427106 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001142405.1 +1 validated p.E120* 0.764 50 0% 152 32.9% 2 100% - - - HMMPfam_PRELI MC2R 4158 genome.wustl.edu 37 18 13885386 13885386 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000529.2 -1 reviewed p.I44 0.989 56 0% 71 31% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ANKRD30B 374860 genome.wustl.edu 37 18 14763881 14763881 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001145029.1 +1 validated p.I339M 0.028 46 0% 45 33.3% 0 - possibly_damaging(0.847) deleterious(0.01) deleterious(0.731) NULL ANKRD30B 374860 genome.wustl.edu 37 18 14803793 14803793 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001145029.1 +1 validated p.E752* 0.000 72 0% 96 28.1% 0 - - - - NULL ENSG00000180777 0 genome.wustl.edu 37 18 14810129 14810129 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000320584 +1 known p.S135Y 0.002 37 0% 48 37.5% 0 - probably_damaging(0.964) deleterious(0) deleterious(0.851) NULL ROCK1 6093 genome.wustl.edu 37 18 18629823 18629823 + Missense_Mutation SNP T T A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005406.2 -1 reviewed p.K65I 1.000 93 0% 103 21.4% 2 0% benign(0.009) deleterious(0.03) neutral(0.365) superfamily_Kinase_like ESCO1 114799 genome.wustl.edu 37 18 19153312 19153312 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_052911.2 -1 validated p.N498T 1.000 170 0% 165 32.1% 2 100% benign(0.079) tolerated(0.09) neutral(0.302) NULL LAMA3 3909 genome.wustl.edu 37 18 21419829 21419829 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_198129.1 +1 reviewed p.H1091R 0.000 111 0% 118 36.4% 0 - benign(0) tolerated(0.55) neutral(0.007) NULL ZNF521 25925 genome.wustl.edu 37 18 22806757 22806757 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015461.2 -1 validated p.P375 0.066 118 0% 131 31.3% 0 - - - - NULL DSC3 1825 genome.wustl.edu 37 18 28576941 28576941 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001941.3 -1 reviewed p.G770V 0.995 170 0% 129 30.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DSG3 1830 genome.wustl.edu 37 18 29055636 29055636 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001944.2 +1 reviewed p.D805N 0.268 167 0% 143 25.9% 1 0% probably_damaging(0.985) deleterious(0.02) deleterious(0.815) NULL RNF138 51444 genome.wustl.edu 37 18 29709127 29709127 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016271.3 +1 reviewed p.E239* 1.000 88 0% 111 28.8% 10 60% - - - NULL MEP1B 4225 genome.wustl.edu 37 18 29797906 29797906 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005925.2 +1 validated p.R690Q 0.000 107 0% 132 31.8% 0 - benign(0.087) tolerated(0.3) neutral(0.035) NULL NOL4 8715 genome.wustl.edu 37 18 31709908 31709908 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003787.3 -1 validated p.S114L 1.000 471 0% 397 34.5% 0 - possibly_damaging(0.706) deleterious(0.02) deleterious(0.637) NULL ZSCAN30 100101467 genome.wustl.edu 37 18 32834020 32834020 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001112734.2 -1 validated p.S293 0.820 203 0% 232 31% 0 - - - - superfamily_C2H2 and C2HC zinc fingers EPG5 57724 genome.wustl.edu 37 18 43534502 43534502 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020964.2 -1 validated p.E289A 1.000 133 0% 169 29% 0 - benign(0.004) tolerated(0.15) neutral(0.241) NULL C18orf25 147339 genome.wustl.edu 37 18 43842930 43842930 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_145055.3 +1 validated p.S354Y 1.000 120 0% 129 38% 16 56.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PIAS2 9063 genome.wustl.edu 37 18 44470550 44470550 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004671.2 -1 validated p.T164 0.013 148 0% 124 30.6% 3 0% - - - NULL DYM 54808 genome.wustl.edu 37 18 46906063 46906063 + Nonsense_Mutation SNP C C A rs120074164 TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017653.3 -1 reviewed p.E87* 1.000 198 0% 204 17.2% 3 0% - - - HMMPfam_Dymeclin MYO5B 4645 genome.wustl.edu 37 18 47500803 47500803 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001080467.2 -1 reviewed p.F413 0.021 153 0.7% 242 38.8% 2 100% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases CXXC1 30827 genome.wustl.edu 37 18 47810828 47810828 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000445672 -1 known p.A199V 1.000 65 0% 167 31.7% 52 48% - - - NULL SKA1 220134 genome.wustl.edu 37 18 47917535 47917535 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001039535.2 +1 validated p.V164A 1.000 93 0% 130 22.3% 3 0% benign(0.21) tolerated(0.49) neutral(0.031) HMMPfam_DUF1395 DCC 1630 genome.wustl.edu 37 18 50734131 50734131 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005215.3 +1 reviewed p.N602S 1.000 146 0% 140 29.3% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III DSEL 92126 genome.wustl.edu 37 18 65179508 65179508 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032160.2 -1 validated p.L790V 0.997 201 0% 201 33.3% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL DSEL 92126 genome.wustl.edu 37 18 65180379 65180379 + Silent SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032160.2 -1 validated p.L499 0.998 121 0% 138 28.3% 1 0% - - - NULL FBXO15 201456 genome.wustl.edu 37 18 71797778 71797778 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001142958.1 -1 reviewed p.E150* 1.000 145 0% 230 30.9% 0 - - - - superfamily_SSF81383 MOB3A 126308 genome.wustl.edu 37 19 2076855 2076855 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_130807.2 -1 validated p.F193 0.988 6 0.000 15 0.400 19 21% - - - HMMPfam_Mob1_phocein,superfamily_Mob1_phocein ZNF556 80032 genome.wustl.edu 37 19 2877345 2877345 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024967.1 +1 provisional p.R130Q 0.000 52 0% 106 48.1% 1 0% probably_damaging(0.976) tolerated(0.67) neutral(0.420) superfamily_SSF57667 CATSPERD 257062 genome.wustl.edu 37 19 5744476 5744476 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152784.3 +1 validated p.F204L 0.000 160 0% 364 34.9% 0 - benign(0) tolerated(0.61) neutral(0.004) NULL EMR1 2015 genome.wustl.edu 37 19 6906538 6906538 + Splice_Site SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000450315 +1 known e9+2 0.206 122 0% 186 34.9% 0 - - - - - EMR1 2015 genome.wustl.edu 37 19 6921873 6921873 + Silent SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001974.3 +1 reviewed p.I590 1.000 189 0% 267 36% 0 - - - - HMMPfam_GPS,HMMSmart_SM00303,superfamily_Family A G protein-coupled receptor-like EVI5L 115704 genome.wustl.edu 37 19 7914025 7914025 + Silent SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_145245.3 +1 validated p.V182 1.000 12 0% 18 44.4% 4 75% - - - HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC MUC16 94025 genome.wustl.edu 37 19 9086055 9086055 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024690.2 -1 validated p.E1920 0.000 159 0% 204 32.8% 0 - - - - NULL ZNF562 54811 genome.wustl.edu 37 19 9764083 9764083 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001130031.1 -1 validated p.L275I 0.138 250 0.4% 329 28.6% 3 33.3% possibly_damaging(0.949) deleterious(0) deleterious(0.838) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF846 162993 genome.wustl.edu 37 19 9869200 9869200 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001077624.1 -1 validated p.L185F 0.002 148 0% 143 36.4% 6 33.3% possibly_damaging(0.69) deleterious(0.05) deleterious(0.593) superfamily_C2H2 and C2HC zinc fingers OLFM2 93145 genome.wustl.edu 37 19 9971459 9971459 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_058164.2 -1 provisional p.Q25 0.999 6 0.000 11 0.364 7 85.7% - - - NULL DNM2 1785 genome.wustl.edu 37 19 10913005 10913005 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001005360.1 +1 reviewed p.T488 0.751 18 0% 44 27.3% 101 53.4% - - - HMMPfam_Dynamin_M RAB3D 9545 genome.wustl.edu 37 19 11447873 11447873 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004283.3 -1 validated p.D68G 1.000 119 0% 306 26.1% 20 50% possibly_damaging(0.521) tolerated(1) neutral(0.175) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 CCDC151 115948 genome.wustl.edu 37 19 11545607 11545607 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_145045.4 -1 validated p.K77N 0.999 41 0% 103 26.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF763 284390 genome.wustl.edu 37 19 12089301 12089301 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001012753.1 +1 validated p.R191* 0.000 212 0% 367 30.5% 6 50% - - - HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF433 163059 genome.wustl.edu 37 19 12126814 12126814 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001080411.1 -1 provisional p.A290T 0.863 109 0% 212 34.9% 1 0% probably_damaging(0.968) deleterious(0.01) deleterious(0.816) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF878 729747 genome.wustl.edu 37 19 12155800 12155800 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001080404.1 -1 inferred p.G186E 0.758 168 0% 351 33% 0 - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) superfamily_C2H2 and C2HC zinc fingers ZNF442 79973 genome.wustl.edu 37 19 12460636 12460636 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_030824.2 -1 validated p.R588Q 0.000 207 0% 292 30.5% 3 0% benign(0.023) tolerated(0.73) neutral(0.003) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF442 79973 genome.wustl.edu 37 19 12461342 12461342 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_030824.2 -1 validated p.I353L 0.698 581 0% 838 29% 0 - benign(0.023) tolerated(0.08) neutral(0.301) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF799 90576 genome.wustl.edu 37 19 12501710 12501710 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001080821.1 -1 validated p.E501G 1.000 358 0% 501 36.3% 3 33.3% possibly_damaging(0.917) deleterious(0.04) deleterious(0.717) superfamily_C2H2 and C2HC zinc fingers WDR83 84292 genome.wustl.edu 37 19 12781083 12781083 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001099737.2 +1 reviewed p.F105S 1.000 20 0% 55 23.6% 33 45.4% possibly_damaging(0.63) deleterious(0) deleterious(0.664) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 CACNA1A 773 genome.wustl.edu 37 19 13386694 13386694 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001127222.1 -1 reviewed p.V1320A 1.000 33 0% 83 26.5% 0 - possibly_damaging(0.95) deleterious(0) deleterious(0.838) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1A 773 genome.wustl.edu 37 19 13419322 13419322 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001127222.1 -1 reviewed p.F563 0.935 20 0% 40 25% 1 0% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels PKN1 5585 genome.wustl.edu 37 19 14557323 14557323 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_213560.1 +1 reviewed p.A193V 0.934 14 0% 68 22.1% 46 23.9% benign(0.007) tolerated(0.34) neutral(0.023) HMMPfam_HR1,HMMSmart_SM00742,superfamily_HR1 repeat ENSG00000225607 0 genome.wustl.edu 37 19 15890551 15890551 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000412610 -1 known p.Q57H 0.066 24 0% 60 40% 0 - - - - superfamily_Cytochrome P450 CPAMD8 27151 genome.wustl.edu 37 19 17091369 17091369 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015692.2 -1 validated p.R555Q 0.998 26 0% 38 34.2% 5 60% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_A2M_N_2 PBX4 80714 genome.wustl.edu 37 19 19680940 19680940 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_025245.1 -1 reviewed p.R204C 1.000 8 0.000 29 0.276 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PBC ZNF626 199777 genome.wustl.edu 37 19 20808128 20808128 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001076675.2 -1 validated p.F185L 0.002 280 0% 337 13.6% 2 0% benign(0) tolerated(0.72) neutral(0.002) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF714 148206 genome.wustl.edu 37 19 21281114 21281114 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000291770 +1 known p.L14V 0.133 182 0% 264 37.5% 0 - benign(0.33) tolerated(0.07) neutral(0.422) HMMSmart_SM00349 ZNF708 7562 genome.wustl.edu 37 19 21476601 21476601 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_021269.2 -1 validated p.E389D 1.000 351 0% 463 28.9% 4 50% benign(0.011) deleterious(0.02) neutral(0.384) superfamily_C2H2 and C2HC zinc fingers ZNF43 7594 genome.wustl.edu 37 19 21991060 21991060 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003423.2 -1 validated p.F593L 0.923 276 0% 347 34.6% 0 - benign(0.001) tolerated(0.06) neutral(0.323) superfamily_C2H2 and C2HC zinc fingers ZNF208 7757 genome.wustl.edu 37 19 22157072 22157072 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007153.3 -1 provisional p.K255T 0.006 320 0% 422 10.2% 0 - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) superfamily_SSF57667 ZNF257 113835 genome.wustl.edu 37 19 22271727 22271727 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_033468.2 +1 provisional p.R392I 1.000 200 0% 235 17.4% 0 - benign(0) tolerated(0.35) neutral(0.021) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22496986 22496986 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_002343636.1 +1 model p.R123I 0.018 135 0% 231 18.2% 0 - possibly_damaging(0.592) tolerated(0.17) neutral(0.263) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22497357 22497357 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_002343636.1 +1 model p.E247* 0.490 425 0% 540 31.1% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22498330 22498330 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_002343636.1 +1 model p.I571T 0.998 330 0% 449 28.7% 0 - benign(0.301) tolerated(0.16) neutral(0.152) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF254 9534 genome.wustl.edu 37 19 24310450 24310450 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_203282.2 +1 validated p.K550E 0.015 426 0.2% 482 41.1% 14 42.8% benign(0.001) tolerated(1) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TSHZ3 57616 genome.wustl.edu 37 19 31767955 31767955 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020856.2 -1 validated p.R915Q 1.000 37 0% 73 38.4% 2 0% probably_damaging(0.987) tolerated(0.18) deleterious(0.492) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like ANKRD27 84079 genome.wustl.edu 37 19 33130360 33130360 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032139.2 -1 validated p.F340L 1.000 31 0% 99 13.1% 2 50% benign(0.019) tolerated(0.28) neutral(0.033) HMMPfam_VPS9,HMMSmart_VPS9,superfamily_SSF109993 SCGB2B2 284402 genome.wustl.edu 37 19 35085231 35085231 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001025591.2 -1 validated p.A32V 0.058 76 0% 196 30.1% 0 - possibly_damaging(0.507) - - superfamily_Secretoglobin LOC100132622 100132622 genome.wustl.edu 37 19 36159451 36159451 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_001719701.1 -1 model p.D52Y 1.000 27 0% 59 32.2% 0 - - - - NULL MLL4 9757 genome.wustl.edu 37 19 36222961 36222961 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014727.1 +1 reviewed p.R1864* 1.000 7 0.000 26 0.231 6 33.3% - - - NULL PRODH2 58510 genome.wustl.edu 37 19 36297638 36297638 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_021232.1 -1 reviewed p.R334L 1.000 28 0% 40 30% 0 - benign(0.429) deleterious(0.01) deleterious(0.545) HMMPfam_Pro_dh,superfamily_SSF51730 PRODH2 58510 genome.wustl.edu 37 19 36297998 36297998 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_021232.1 -1 reviewed p.A284D 0.000 6 0.000 12 0.333 0 - benign(0) tolerated(0.62) neutral(0.004) HMMPfam_Pro_dh,superfamily_SSF51730 APLP1 333 genome.wustl.edu 37 19 36367468 36367468 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001024807.1 +1 reviewed p.G465D 1.000 14 0% 32 37.5% 5 80% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_CAPPD an extracellular domain of amyloid beta A4 protein ZNF345 25850 genome.wustl.edu 37 19 37368919 37368919 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003419.3 +1 provisional p.R396I 0.989 368 0% 398 12.3% 1 0% benign(0.056) deleterious(0) neutral(0.448) superfamily_SSF57667 ZNF585B 92285 genome.wustl.edu 37 19 37676966 37676966 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152279.3 -1 validated p.E491D 1.000 351 0% 433 27.5% 1 100% benign(0.368) deleterious(0.02) deleterious(0.500) superfamily_SSF57667 C19orf33 64073 genome.wustl.edu 37 19 38795547 38795549 + In_Frame_Del DEL GAA GAA - rs139805446 byCluster;by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_033520.1 +1 provisional p.K91in_frame_del 0.206:0.197:0.147 - - - - - - - - - NULL RYR1 6261 genome.wustl.edu 37 19 39002960 39002960 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000540.2 +1 reviewed p.I3103 0.294 20 0% 74 32.4% 0 - - - - NULL FBXO17 115290 genome.wustl.edu 37 19 39433344 39433344 + Silent SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_148169.1 -1 reviewed p.S256 0.866 38 0% 110 34.5% 6 0% - - - HMMPfam_FBA,superfamily_Galactose-binding domain-like PLEKHG2 64857 genome.wustl.edu 37 19 39915363 39915363 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_022835.2 +1 validated p.S1197L 0.001 102 0% 318 30.8% 22 45.4% benign(0) tolerated(0.41) neutral(0.015) NULL PSMC4 5704 genome.wustl.edu 37 19 40485861 40485861 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006503.2 +1 reviewed p.A271T 1.000 92 0% 140 22.1% 311 44.6% possibly_damaging(0.884) deleterious(0.03) deleterious(0.710) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF229 7772 genome.wustl.edu 37 19 44934494 44934494 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014518.2 -1 validated p.E154 0.000 121 0% 158 27.2% 0 - - - - NULL KPTN 11133 genome.wustl.edu 37 19 47984032 47984032 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007059.2 -1 validated p.T195M 0.994 49 0% 90 24.4% 38 47.3% possibly_damaging(0.946) tolerated(0.15) deleterious(0.631) NULL SYNGR4 23546 genome.wustl.edu 37 19 48879403 48879403 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_012451.2 +1 reviewed p.R178H 1.000 34 0% 58 25.9% 0 - probably_damaging(1) tolerated(0.12) deleterious(0.760) NULL SPACA4 171169 genome.wustl.edu 37 19 49110402 49110402 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_133498.2 +1 validated p.G56D 0.060 12 0% 34 38.2% 1 100% probably_damaging(0.999) tolerated(0.37) deleterious(0.509) HMMPfam_UPAR_LY6,superfamily_SSF57302 CGB 1082 genome.wustl.edu 37 19 49526297 49526297 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000737.2 -1 reviewed p.R115H 0.542 26 0% 65 13.8% 0 - probably_damaging(0.975) deleterious(0.03) deleterious(0.781) HMMSmart_SM00068,HMMPfam_Cys_knot,PatternScan_GLYCO_HORMONE_BETA_2,superfamily_Cystine-knot cytokines SIGLEC7 27036 genome.wustl.edu 37 19 51648167 51648167 + Splice_Site SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014385.2 +1 validated e3-2 0.019 75 0% 169 30.8% 0 - - - - - ZNF577 84765 genome.wustl.edu 37 19 52376599 52376599 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032679.2 -1 validated p.E215A 0.000 143 0% 181 37.6% 3 66.6% probably_damaging(0.98) tolerated(0.07) deleterious(0.743) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF432 9668 genome.wustl.edu 37 19 52536998 52536998 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014650.2 -1 provisional p.R645Q 0.024 264 0% 330 29.1% 4 50% benign(0.214) deleterious(0.04) neutral(0.370) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF616 90317 genome.wustl.edu 37 19 52619792 52619792 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_178523.3 -1 validated p.T209A 0.038 277 1.1% 239 10.5% 1 0% possibly_damaging(0.664) tolerated(0.27) neutral(0.268) superfamily_SSF57667 ZNF836 162962 genome.wustl.edu 37 19 52658178 52658178 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001102657.1 -1 provisional p.K920Q 0.000 98 0% 130 34.6% 9 22.2% probably_damaging(0.983) tolerated(0.49) neutral(0.440) NULL ZNF610 162963 genome.wustl.edu 37 19 52869132 52869132 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_173530.2 +1 validated p.I167M 0.005 209 0% 293 33.4% 2 50% possibly_damaging(0.822) tolerated(0.09) deleterious(0.607) NULL ZNF83 55769 genome.wustl.edu 37 19 53116556 53116556 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001105549.1 -1 validated p.R421I 0.025 278 0% 423 33.1% 17 64.7% benign(0.005) tolerated(0.09) neutral(0.296) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF611 81856 genome.wustl.edu 37 19 53209139 53209139 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_030972.3 -1 validated p.R390I 0.999 297 0.7% 437 38.4% 1 100% possibly_damaging(0.701) tolerated(0.12) deleterious(0.512) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_Multiheme cytochromes,superfamily_C2H2 and C2HC zinc fingers ZNF28 7576 genome.wustl.edu 37 19 53303814 53303814 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006969.2 -1 validated p.K375 0.008 284 0% 411 30.4% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF665 79788 genome.wustl.edu 37 19 53668982 53668982 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024733.3 -1 provisional p.R254I 0.023 272 0% 392 35.5% 0 - benign(0.268) tolerated(0.17) neutral(0.087) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF818P 390963 genome.wustl.edu 37 19 53716480 53716480 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000344759 +1 known p.R81I 0.008 8 0.000 9 0.444 1 0% - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NLRP12 91662 genome.wustl.edu 37 19 54314492 54314492 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_144687.2 -1 reviewed p.E141K 0.825 22 0% 55 36.4% 0 - possibly_damaging(0.858) tolerated(0.87) neutral(0.332) NULL CACNG7 59284 genome.wustl.edu 37 19 54418681 54418681 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_031896.3 +1 reviewed p.V116I 1.000 40 0% 45 37.8% 0 - benign(0.002) tolerated(0.4) neutral(0.016) HMMPfam_PMP22_Claudin LILRB2 10288 genome.wustl.edu 37 19 54782713 54782713 + Silent SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005874.3 -1 reviewed p.S303 0.066 17 0% 26 38.5% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin KIR3DL2 3812 genome.wustl.edu 37 19 55377839 55377839 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006737.2 +1 reviewed p.D374Y 0.004 347 0% 472 29.9% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL NLRP7 199713 genome.wustl.edu 37 19 55438997 55438997 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001127255.1 -1 reviewed p.R986I 0.000 98 0% 248 30.2% 5 80% possibly_damaging(0.463) tolerated(0.09) neutral(0.449) superfamily_RNI-like GP6 51206 genome.wustl.edu 37 19 55526203 55526203 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001083899.1 -1 validated p.E370D 0.000 74 0% 124 37.9% 2 100% unknown(0) - - NULL TNNT1 7138 genome.wustl.edu 37 19 55653228 55653228 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003283.4 -1 reviewed p.F63 1.000 27 0% 89 22.5% 1 100% - - - NULL ZSCAN5A 79149 genome.wustl.edu 37 19 56736094 56736094 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024303.1 -1 provisional p.G108C 0.000 67 0% 126 28.6% 1 100% probably_damaging(0.959) deleterious(0.01) deleterious(0.808) HMMPfam_SCAN,HMMSmart_SCAN ZNF471 57573 genome.wustl.edu 37 19 57027674 57027674 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020813.2 +1 validated p.D22Y 0.117 241 0.4% 278 29.5% 1 100% possibly_damaging(0.697) tolerated(0.1) deleterious(0.536) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZFP28 140612 genome.wustl.edu 37 19 57066484 57066484 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020828.1 +1 provisional p.R777I 0.995 353 0% 333 30% 0 - probably_damaging(0.99) tolerated(0.17) deleterious(0.500) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PEG3 5178 genome.wustl.edu 37 19 57326152 57326152 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006210.2 -1 reviewed p.L1220I 0.001 228 0% 291 30.9% 0 - possibly_damaging(0.601) tolerated(0.21) neutral(0.252) superfamily_C2H2 and C2HC zinc fingers PEG3 5178 genome.wustl.edu 37 19 57334963 57334963 + Missense_Mutation SNP A A C rs35355795 byCluster;byFrequency TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006210.2 -1 reviewed p.F160C 0.014 33 0% 62 27.4% 0 - possibly_damaging(0.576) tolerated(0.27) neutral(0.231) NULL PEG3 5178 genome.wustl.edu 37 19 57335892 57335892 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006210.2 -1 reviewed p.F44L 0.989 83 0% 86 23.3% 0 - possibly_damaging(0.888) deleterious(0.03) deleterious(0.712) HMMPfam_SCAN,HMMSmart_SM00431 ZNF547 284306 genome.wustl.edu 37 19 57889367 57889367 + Silent SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_173631.2 +1 validated p.Q341 0.001 243 0% 427 31.1% 4 75% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers VN1R1 57191 genome.wustl.edu 37 19 57967043 57967043 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020633.2 -1 reviewed p.A271D 0.466 137 0% 184 17.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_V1R,superfamily_Family A G protein-coupled receptor-like ZNF772 400720 genome.wustl.edu 37 19 57985398 57985398 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001024596.2 -1 validated p.F238 0.005 109 0% 184 40.2% 0 - - - - NULL ZNF773 374928 genome.wustl.edu 37 19 58017979 58017979 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_198542.1 +1 provisional p.E172D 0.181 141 0% 232 32.3% 1 100% benign(0.001) tolerated(0.43) neutral(0.013) superfamily_C2H2 and C2HC zinc fingers ZIK1 284307 genome.wustl.edu 37 19 58101525 58101525 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001010879.2 +1 provisional p.A116S 0.001 149 0% 260 34.2% 0 - benign(0.013) tolerated(0.12) neutral(0.261) NULL ZNF211 10520 genome.wustl.edu 37 19 58152984 58152984 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006385.3 +1 validated p.S390Y 0.003 229 0% 338 33.4% 3 0% possibly_damaging(0.602) tolerated(0.36) neutral(0.228) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZSCAN4 201516 genome.wustl.edu 37 19 58187754 58187754 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152677.2 +1 validated p.D81Y 0.999 95 0% 147 33.3% 1 100% probably_damaging(0.973) deleterious(0) deleterious(0.859) HMMPfam_SCAN ZNF551 90233 genome.wustl.edu 37 19 58199354 58199354 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_138347.3 +1 validated p.S555R 0.000 266 0.4% 479 11.5% 1 0% possibly_damaging(0.767) tolerated(0.73) neutral(0.286) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF776 284309 genome.wustl.edu 37 19 58264652 58264652 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000431353 +1 known p.F57L 0.028 98 0% 160 25% 1 0% benign(0.009) tolerated(0.37) neutral(0.019) HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF776 284309 genome.wustl.edu 37 19 58265990 58265990 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_173632.3 +1 validated p.R498C 0.000 175 0.6% 285 32.6% 0 - probably_damaging(0.993) tolerated(0.08) deleterious(0.750) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF544 27300 genome.wustl.edu 37 19 58773135 58773135 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014480.2 +1 provisional p.S388Y 0.006 66 0% 101 28.7% 6 33.3% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF132 7691 genome.wustl.edu 37 19 58945910 58945910 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003433.3 -1 validated p.S301G 0.017 84 0% 113 25.7% 1 100% possibly_damaging(0.936) tolerated(0.29) neutral(0.411) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DEFB129 140881 genome.wustl.edu 37 20 210075 210075 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_080831.2 +1 validated p.P72L 0.000 238 0% 215 33.5% 0 - benign(0.075) tolerated(0.09) neutral(0.301) NULL CSNK2A1 1457 genome.wustl.edu 37 20 476388 476388 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001895.3 -1 reviewed p.V162A 1.000 114 0% 112 33% 25 44% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SIRPB1 10326 genome.wustl.edu 37 20 1559159 1559159 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006065.3 -1 reviewed p.F86 0.000 158 0% 212 29.7% 0 - - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin FAM113A 64773 genome.wustl.edu 37 20 2820510 2820510 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_022760.3 -1 predicted p.D17N 0.992 7 0.000 27 0.222 9 44.4% benign(0) tolerated(0.96) - NULL FASTKD5 60493 genome.wustl.edu 37 20 3128701 3128701 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_021826.4 -1 validated p.K339T 0.976 116 0% 157 32.5% 5 80% probably_damaging(0.982) deleterious(0.02) deleterious(0.809) NULL PAK7 57144 genome.wustl.edu 37 20 9561060 9561060 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020341.3 -1 reviewed p.G241E 1.000 282 0% 295 32.2% 0 - unknown(0) tolerated(0.45) - NULL JAG1 182 genome.wustl.edu 37 20 10639128 10639128 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000214.2 -1 reviewed p.E228K 1.000 124 0.8% 209 26.3% 4 75% benign(0.186) tolerated(0.2) neutral(0.067) HMMPfam_DSL,HMMSmart_DSL FLRT3 23767 genome.wustl.edu 37 20 14306338 14306338 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_013281.2 -1 reviewed p.S605 1.000 213 0% 215 30.7% 0 - - - - NULL KIF16B 55614 genome.wustl.edu 37 20 16337070 16337070 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024704.3 -1 validated p.N1176D 1.000 58 0% 80 28.7% 3 66.6% probably_damaging(0.969) tolerated(0.16) deleterious(0.471) superfamily_PX domain PCSK2 5126 genome.wustl.edu 37 20 17462701 17462701 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002594.2 +1 reviewed p.L635I 1.000 17 0% 21 28.6% 0 - possibly_damaging(0.556) deleterious(0) deleterious(0.634) NULL CST1 1469 genome.wustl.edu 37 20 23731499 23731499 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001898.2 -1 reviewed p.A2V 0.352 18 0% 33 45.5% 1 0% benign(0.017) deleterious(0) neutral(0.445) NULL ENTPD6 955 genome.wustl.edu 37 20 25204780 25204780 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000447877 +1 known p.S269L 0.053 5 0.000 15 0.267 86 60.4% - - - HMMPfam_GDA1_CD39 DEFB119 245932 genome.wustl.edu 37 20 29976866 29976866 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_153323.3 -1 validated p.T77A 0.000 231 0% 288 36.8% 0 - benign(0.395) deleterious(0) deleterious(0.572) NULL XKR7 343702 genome.wustl.edu 37 20 30585208 30585208 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001011718.1 +1 provisional p.Y563C 1.000 5 0.000 36 0.222 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HCK 3055 genome.wustl.edu 37 20 30681808 30681808 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002110.3 +1 reviewed p.T412K 0.922 37 0% 47 42.6% 6 33.3% benign(0.27) deleterious(0.04) neutral(0.378) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) CBFA2T2 9139 genome.wustl.edu 37 20 32212579 32212579 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005093.3 +1 reviewed p.E243D 0.912 126 0% 189 31.2% 5 20% benign(0.001) tolerated(0.08) neutral(0.300) NULL NCOA6 23054 genome.wustl.edu 37 20 33328808 33328808 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014071.2 -1 reviewed p.S1751Y 1.000 53 0% 74 18.9% 20 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL NCOA6 23054 genome.wustl.edu 37 20 33342596 33342596 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014071.2 -1 reviewed p.S535L 0.998 104 0% 109 36.7% 0 - benign(0.176) deleterious(0) neutral(0.461) NULL C20orf24 55969 genome.wustl.edu 37 20 35240579 35240579 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_199483.1 +1 validated p.E129K 0.740 110 0% 249 31.7% 484 47.7% benign(0.043) deleterious(0) neutral(0.447) HMMPfam_Rab5ip NDRG3 57446 genome.wustl.edu 37 20 35310919 35310919 + Splice_Site SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032013.2 -1 validated e6+2 1.000 65 0% 122 36.9% 0 - - - - - ZHX3 23051 genome.wustl.edu 37 20 39832964 39832964 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015035.3 -1 reviewed p.K198T 1.000 184 0% 161 34.8% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL HNF4A 3172 genome.wustl.edu 37 20 43052674 43052674 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000457.3 +1 reviewed p.S303 0.480 14 0% 20 40% 0 - - - - HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain PABPC1L 80336 genome.wustl.edu 37 20 43545442 43545442 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001124756.1 +1 provisional p.F145V 1.000 61 0% 109 37.6% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 RBPJL 11317 genome.wustl.edu 37 20 43945485 43945485 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014276.2 +1 reviewed p.S480 0.665 39 0% 96 32.3% 0 - - - - NULL ZNF334 55713 genome.wustl.edu 37 20 45130103 45130103 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018102.3 -1 validated p.E625D 1.000 234 0% 233 35.2% 1 0% possibly_damaging(0.697) deleterious(0.02) deleterious(0.633) superfamily_SSF57667 ZNF334 55713 genome.wustl.edu 37 20 45130368 45130368 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018102.3 -1 validated p.R537I 0.528 317 0% 342 34.5% 0 - possibly_damaging(0.946) deleterious(0) deleterious(0.835) superfamily_SSF57667 ZNF334 55713 genome.wustl.edu 37 20 45131208 45131208 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_018102.3 -1 validated p.R257I 1.000 146 0% 191 34.6% 0 - possibly_damaging(0.902) tolerated(0.16) neutral(0.416) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 SLC13A3 64849 genome.wustl.edu 37 20 45192088 45192088 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_022829.4 -1 reviewed p.A533T 1.000 13 0% 18 22.2% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Na_sulph_symp ZNFX1 57169 genome.wustl.edu 37 20 47881369 47881369 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_021035.2 -1 validated p.R679W 1.000 122 0.8% 122 32% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases CBLN4 140689 genome.wustl.edu 37 20 54578975 54578975 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_080617.4 -1 reviewed p.E85K 1.000 56 0% 55 27.3% 0 - possibly_damaging(0.796) tolerated(0.13) deleterious(0.551) HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like ZBP1 81030 genome.wustl.edu 37 20 56191234 56191234 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000432548 -1 known p.D109Y 0.007 15 0% 25 36% 0 - - - - NULL RAB22A 57403 genome.wustl.edu 37 20 56928527 56928527 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020673.2 +1 reviewed p.R104* 1.000 112 0% 143 16.8% 17 0% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF831 128611 genome.wustl.edu 37 20 57768155 57768155 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_178457.1 +1 provisional p.G694E 0.000 4 0.000 31 0.355 0 - possibly_damaging(0.798) tolerated(0.08) deleterious(0.601) NULL SYCP2 10388 genome.wustl.edu 37 20 58442873 58442873 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014258.2 -1 reviewed p.N1340H 0.000 193 0% 136 33.8% 1 100% probably_damaging(0.982) tolerated(0.18) deleterious(0.482) NULL CDH26 60437 genome.wustl.edu 37 20 58562650 58562650 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_177980.2 +1 reviewed p.S327L 0.000 68 0% 93 28% 1 100% benign(0.001) tolerated(0.46) neutral(0.012) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin TCFL5 10732 genome.wustl.edu 37 20 61490808 61490808 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006602.2 -1 validated p.S301Y 1.000 53 0% 64 34.4% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL USP25 29761 genome.wustl.edu 37 21 17250772 17250772 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_013396.3 +1 validated p.R1049Q 1.000 180 0% 169 36.1% 31 16.1% possibly_damaging(0.706) tolerated(0.17) neutral(0.313) NULL C21orf91 54149 genome.wustl.edu 37 21 19165819 19165819 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001100420.1 -1 validated p.I269 0.927 75 0% 47 25.5% 15 26.6% - - - HMMPfam_EURL JAM2 58494 genome.wustl.edu 37 21 27081748 27081748 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_021219.2 +1 reviewed p.E270* 0.995 75 0% 80 38.8% 5 0% - - - NULL LTN1 26046 genome.wustl.edu 37 21 30339154 30339154 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015565.2 -1 validated p.E553D 0.050 156 0% 156 24.4% 1 100% possibly_damaging(0.489) tolerated(0.38) neutral(0.180) superfamily_ARM repeat CLDN8 9073 genome.wustl.edu 37 21 31587676 31587676 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_199328.2 -1 reviewed p.E190K 0.183 138 0.7% 114 14% 0 - benign(0.003) tolerated(0.57) neutral(0.006) NULL KRTAP11-1 337880 genome.wustl.edu 37 21 32253404 32253404 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_175858.2 -1 validated p.V147A 0.051 118 0% 108 28.7% 0 - benign(0.004) deleterious(0.03) neutral(0.364) HMMPfam_PMG GCFC1 94104 genome.wustl.edu 37 21 34110616 34110616 + Silent SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016631.3 -1 reviewed p.F783 1.000 133 0% 133 15% 5 80% - - - HMMPfam_GCFC DNAJC28 54943 genome.wustl.edu 37 21 34860704 34860704 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001040192.1 -1 validated p.E333* 1.000 92 0% 153 29.4% 4 25% - - - NULL DNAJC28 54943 genome.wustl.edu 37 21 34861619 34861619 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001040192.1 -1 validated p.M28L 0.001 68 0% 132 35.6% 0 - benign(0) tolerated(0.18) neutral(0.056) NULL DOPEY2 9980 genome.wustl.edu 37 21 37623473 37623473 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005128.2 +1 validated p.K1671T 1.000 44 0% 58 32.8% 4 50% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL LCA5L 150082 genome.wustl.edu 37 21 40778350 40778350 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152505.3 -1 validated p.E491* 0.005 75 0% 101 24.8% 1 0% - - - NULL FAM3B 54097 genome.wustl.edu 37 21 42716444 42716444 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_058186.3 +1 validated p.N110S 1.000 53 0% 54 18.5% 43 37.2% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL C21orf33 8209 genome.wustl.edu 37 21 45563136 45563136 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004649.6 +1 reviewed p.E191K 1.000 8 0.000 17 0.235 106 33% benign(0.341) tolerated(0.38) neutral(0.125) HMMPfam_DJ-1_PfpI,superfamily_Class I glutamine amidotransferase-like ADARB1 104 genome.wustl.edu 37 21 46596405 46596405 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015833.3 +1 validated p.F263 0.934 62 0% 106 30.2% 2 50% - - - HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like COL6A1 1291 genome.wustl.edu 37 21 47421198 47421198 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001848.2 +1 reviewed p.F618 1.000 6 0.000 31 0.194 46 0% - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 DIP2A 23181 genome.wustl.edu 37 21 47910559 47910559 + Silent SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015151.3 +1 reviewed p.S70 0.950 13 0% 27 33.3% 3 66.6% - - - HMMPfam_DMAP_binding OR11H1 81061 genome.wustl.edu 37 22 16449709 16449709 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001005239.1 -1 provisional p.F32L 0.236 882 0% 779 12.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81321 IGLV3-25 28793 genome.wustl.edu 37 22 23029254 23029254 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000390305 +1 known p.L8I 0.001 27 0% 38 50% 43 0% probably_damaging(0.991) deleterious(0.04) deleterious(0.793) NULL ADRBK2 157 genome.wustl.edu 37 22 26057559 26057559 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005160.3 +1 reviewed p.K94T 1.000 68 0% 51 27.5% 0 - benign(0.109) tolerated(0.61) neutral(0.013) HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam MYO18B 84700 genome.wustl.edu 37 22 26423514 26423514 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032608.5 +1 reviewed p.K2525R 1.000 49 0% 75 34.7% 3 0% benign(0.008) tolerated(0.36) neutral(0.020) NULL SEZ6L 23544 genome.wustl.edu 37 22 26707793 26707793 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_021115.4 +1 validated p.D581N 1.000 180 0.6% 299 27.4% 0 - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain C22orf31 25770 genome.wustl.edu 37 22 29456529 29456529 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015370.1 -1 predicted p.S102 0.000 76 0% 116 31.9% 0 - - - - NULL OSM 5008 genome.wustl.edu 37 22 30661091 30661091 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020530.3 -1 reviewed p.A26V 0.002 19 0% 103 36.9% 1 0% benign(0.001) tolerated(0.33) neutral(0.024) HMMPfam_LIF_OSM CCDC157 550631 genome.wustl.edu 37 22 30772688 30772688 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001017437.2 +1 validated p.R738Q 0.000 7 0.000 20 0.400 2 50% benign(0.033) tolerated(0.33) neutral(0.026) NULL SLC5A4 6527 genome.wustl.edu 37 22 32626980 32626980 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014227.2 -1 validated p.T368 0.066 52 0% 50 34% 0 - - - - HMMPfam_SSF APOL1 8542 genome.wustl.edu 37 22 36657678 36657678 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_145343.2 +1 reviewed p.F91S 0.001 42 0% 74 41.9% 82 51.2% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL RAC2 5880 genome.wustl.edu 37 22 37637190 37637190 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000401529 -1 known p.A42T 0.001 8 0.000 39 0.385 0 - benign(0.05) deleterious(0.01) neutral(0.409) NULL CARD10 29775 genome.wustl.edu 37 22 37893107 37893107 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014550.3 -1 reviewed p.S622 0.000 20 0% 57 26.3% 19 42.1% - - - NULL SREBF2 6721 genome.wustl.edu 37 22 42269984 42269984 + Silent SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004599.2 +1 reviewed p.I350 1.000 36 0% 66 18.2% 19 52.6% - - - HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic LOC100289204 100289204 genome.wustl.edu 37 22 42537363 42537363 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_002343781.1 +1 model p.R218C 0.000 8 0.000 33 0.394 7 42.8% unknown(0) - - NULL TCF20 6942 genome.wustl.edu 37 22 42609778 42609778 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005650.1 -1 reviewed p.K512E 1.000 269 0% 401 28.2% 6 66.6% probably_damaging(0.996) tolerated(0.09) deleterious(0.758) NULL SCUBE1 80274 genome.wustl.edu 37 22 43715941 43715941 + Splice_Site SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_173050.2 -1 validated e3+2 1.000 84 0% 111 36.9% 0 - - - - - EFCAB6 64800 genome.wustl.edu 37 22 44127641 44127641 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_022785.2 -1 validated p.V232A 0.000 44 0% 75 28% 1 100% benign(0.001) tolerated(0.49) neutral(0.011) superfamily_EF-hand SMC1B 27127 genome.wustl.edu 37 22 45795017 45795017 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_148674.3 -1 validated p.E357D 0.730 154 0% 235 34.5% 0 - benign(0.008) tolerated(0.08) neutral(0.300) HMMPfam_SMC_N,superfamily_SSF52540 MXRA5 25878 genome.wustl.edu 37 X 3239636 3239636 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015419.3 -1 reviewed p.E1364K 0.001 86 0% 146 30.1% 3 33.3% possibly_damaging(0.667) tolerated(0.08) deleterious(0.536) NULL MXRA5 25878 genome.wustl.edu 37 X 3248192 3248192 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_015419.3 -1 reviewed p.E192D 0.864 48 0% 72 38.9% 0 - benign(0.004) tolerated(0.96) - HMMSmart_SM00369,superfamily_L domain-like ATXN3L 92552 genome.wustl.edu 37 X 13337195 13337195 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001135995.1 -1 validated p.F287V 0.994 323 0% 351 31.9% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL OFD1 8481 genome.wustl.edu 37 X 13754736 13754736 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003611.2 +1 reviewed p.R84I 0.992 312 0% 377 30.2% 4 0% possibly_damaging(0.938) tolerated(0.2) neutral(0.432) HMMSmart_SM00667 OFD1 8481 genome.wustl.edu 37 X 13775907 13775907 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003611.2 +1 reviewed p.E514K 0.985 129 0% 137 27% 6 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL GEMIN8 54960 genome.wustl.edu 37 X 14027161 14027161 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001042479.1 -1 reviewed p.E200D 1.000 110 0.9% 131 33.6% 57 0% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL FANCB 2187 genome.wustl.edu 37 X 14861707 14861707 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001018113.1 -1 reviewed p.Q854H 0.974 356 0.3% 269 30.1% 0 - possibly_damaging(0.538) tolerated(0.14) neutral(0.431) NULL FANCB 2187 genome.wustl.edu 37 X 14863026 14863026 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001018113.1 -1 reviewed p.L627I 1.000 552 0% 419 33.4% 1 0% possibly_damaging(0.921) tolerated(1) neutral(0.371) NULL CTPS2 56474 genome.wustl.edu 37 X 16717206 16717206 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001144002.1 -1 reviewed p.F59 1.000 133 0% 194 35.1% 5 0% - - - HMMPfam_CTP_synth_N,superfamily_P-loop containing nucleoside triphosphate hydrolases CDKL5 6792 genome.wustl.edu 37 X 18600028 18600028 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001037343.1 +1 reviewed p.L141I 1.000 348 0% 300 35.3% 0 - possibly_damaging(0.748) tolerated(0.22) neutral(0.317) HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase CDKL5 6792 genome.wustl.edu 37 X 18622142 18622142 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001037343.1 +1 reviewed p.F366L 0.999 476 0% 489 35.2% 0 - probably_damaging(0.987) tolerated(0.08) deleterious(0.736) NULL PHKA2 5256 genome.wustl.edu 37 X 18956802 18956802 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000292.2 -1 reviewed p.W328* 1.000 101 0% 166 28.9% 2 100% - - - HMMPfam_PHK_AB,superfamily_Six-hairpin glycosidases MAP7D2 256714 genome.wustl.edu 37 X 20034378 20034378 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152780.3 -1 validated p.R452Q 0.046 122 0.8% 198 32.8% 0 - unknown(0) tolerated(0.11) - HMMPfam_MAP7 RPS6KA3 6197 genome.wustl.edu 37 X 20193391 20193391 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004586.2 -1 reviewed p.P373Q 1.000 147 0% 144 29.2% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_S_TK_X,HMMPfam_Pkinase_C KLHL15 80311 genome.wustl.edu 37 X 24024528 24024528 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_030624.2 -1 reviewed p.E95* 1.000 303 0% 509 18.7% 0 - - - - HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB LOC389842 389842 genome.wustl.edu 37 X 25663959 25663959 + Silent SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_372200.7 -1 model p.I162 0.001 122 0.8% 131 32.8% 128 0% - - - superfamily_PH domain-like LOC389842 389842 genome.wustl.edu 37 X 25664380 25664380 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_372200.7 -1 model p.N22S 0.998 93 0% 50 24% 0 - - - - superfamily_PH domain-like MAGEB10 139422 genome.wustl.edu 37 X 27839922 27839922 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_182506.3 +1 reviewed p.D167Y 0.789 76 0% 96 33.3% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_MAGE MAGEB10 139422 genome.wustl.edu 37 X 27840254 27840254 + Silent SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_182506.3 +1 reviewed p.P277 0.001 58 0% 57 10.5% 0 - - - - HMMPfam_MAGE MAGEB2 4113 genome.wustl.edu 37 X 30237265 30237265 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002364.4 +1 reviewed p.E190* 0.000 52 0% 65 44.6% 0 - - - - HMMPfam_MAGE DMD 1756 genome.wustl.edu 37 X 32519935 32519935 + Missense_Mutation SNP T T C rs128626244 TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004006.2 -1 reviewed p.K773E 1.000 29 0% 35 20% 0 - benign(0.075) deleterious(0.01) neutral(0.411) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat FAM47A 158724 genome.wustl.edu 37 X 34148652 34148652 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_203408.3 -1 validated p.E582* 0.000 158 0% 213 31.9% 0 - - - - NULL CXorf22 170063 genome.wustl.edu 37 X 35974224 35974224 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152632.3 +1 validated p.E441K 0.000 305 0% 281 19.2% 0 - benign(0) tolerated(0.94) - NULL CXorf22 170063 genome.wustl.edu 37 X 35985907 35985907 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152632.3 +1 validated p.R591Q 0.064 124 0% 91 24.2% 0 - probably_damaging(0.997) tolerated(0.17) deleterious(0.525) NULL CXorf22 170063 genome.wustl.edu 37 X 35988963 35988963 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152632.3 +1 validated p.K631 0.000 71 0% 56 33.9% 0 - - - - NULL FAM47C 442444 genome.wustl.edu 37 X 37028389 37028389 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001013736.2 +1 validated p.K636E 0.001 154 11% 245 19.2% 0 - benign(0.187) tolerated(1) neutral(0.018) NULL CYBB 1536 genome.wustl.edu 37 X 37655332 37655332 + Silent SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000397.3 +1 reviewed p.V204 0.152 223 0% 177 10.2% 2 0% - - - HMMPfam_Ferric_reduct RPGR 6103 genome.wustl.edu 37 X 38147138 38147138 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001034853.1 -1 reviewed p.E577K 0.000 71 0% 61 36.1% 7 100% possibly_damaging(0.895) tolerated(0.07) deleterious(0.672) NULL OTC 5009 genome.wustl.edu 37 X 38240627 38240627 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000531.5 +1 reviewed p.L111I 1.000 109 0% 94 34% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_Aspartate/ornithine carbamoyltransferase,HMMPfam_OTCace_N USP9X 8239 genome.wustl.edu 37 X 41031196 41031196 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001039590.2 +1 reviewed p.K1045E 1.000 423 0% 407 33.7% 1 100% benign(0.005) tolerated(0.2) neutral(0.049) NULL GPR34 2857 genome.wustl.edu 37 X 41555743 41555743 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001097579.1 +1 validated p.R286Q 1.000 116 0% 88 35.2% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SLC9A7 84679 genome.wustl.edu 37 X 46508159 46508159 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_032591.1 -1 reviewed p.K474T 1.000 63 0% 89 28.1% 4 0% possibly_damaging(0.498) deleterious(0.03) deleterious(0.531) HMMPfam_Na_H_Exchanger PHF16 9767 genome.wustl.edu 37 X 46887475 46887475 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001077445.1 +1 reviewed p.F219L 1.000 115 0% 121 28.1% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_PHD,superfamily_FYVE_PHD_ZnF,PatternScan_ZF_PHD_1,HMMPfam_PHD PORCN 64840 genome.wustl.edu 37 X 48369747 48369747 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_203475.1 +1 reviewed p.F67L 1.000 58 0% 131 27.5% 16 0% possibly_damaging(0.719) tolerated(0.13) deleterious(0.513) NULL PIM2 11040 genome.wustl.edu 37 X 48771423 48771423 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006875.3 -1 reviewed p.W307* 0.542 6 0.000 16 0.500 3 0% - - - NULL CACNA1F 778 genome.wustl.edu 37 X 49086968 49086968 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005183.2 -1 reviewed p.R209W 1.000 8 0.000 15 0.267 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CLCN5 1184 genome.wustl.edu 37 X 49856787 49856787 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001127898.1 +1 reviewed p.R788* 1.000 174 0% 159 32.1% 2 0% - - - HMMPfam_CBS,HMMSmart_SM00116,superfamily_CBS-domain CCNB3 85417 genome.wustl.edu 37 X 50054374 50054374 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_033031.2 +1 reviewed p.E1069* 0.003 160 0% 166 27.1% 0 - - - - NULL FAM120C 54954 genome.wustl.edu 37 X 54161390 54161390 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017848.4 -1 validated p.V497A 0.979 52 0% 42 19% 0 - benign(0.004) tolerated(0.36) neutral(0.020) NULL ITIH6 347365 genome.wustl.edu 37 X 54776435 54776435 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_198510.2 -1 reviewed p.L1279M 1.000 22 0% 29 41.4% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL APEX2 27301 genome.wustl.edu 37 X 55028732 55028732 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014481.2 +1 reviewed p.E97G 1.000 50 0% 40 20% 15 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos MAGEH1 28986 genome.wustl.edu 37 X 55479059 55479059 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014061.3 +1 reviewed p.F84 1.000 58 0% 62 32.3% 2 0% - - - NULL SPIN2A 54466 genome.wustl.edu 37 X 57162350 57162350 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_019003.3 -1 reviewed p.M227I 1.000 347 0% 420 29.8% 5 0% benign(0) tolerated(0.35) neutral(0.021) HMMPfam_Spin-Ssty FAM123B 139285 genome.wustl.edu 37 X 63411643 63411643 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_152424.3 -1 reviewed p.F508L 1.000 87 0% 149 21.5% 1 0% probably_damaging(0.971) tolerated(0.9) neutral(0.413) HMMPfam_WTX MSN 4478 genome.wustl.edu 37 X 64957102 64957102 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002444.2 +1 reviewed p.E385K 1.000 48 0% 73 27.4% 63 68.2% benign(0.019) tolerated(0.07) neutral(0.320) HMMPfam_ERM OPHN1 4983 genome.wustl.edu 37 X 67518844 67518844 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002547.2 -1 reviewed p.I83 0.986 139 0% 130 38.5% 1 0% - - - NULL IGBP1 3476 genome.wustl.edu 37 X 69354375 69354375 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001551.2 +1 reviewed p.R64Q 0.927 41 0% 74 32.4% 42 0% benign(0.18) tolerated(0.43) neutral(0.030) HMMPfam_TAP42 ARR3 407 genome.wustl.edu 37 X 69496309 69496309 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004312.2 +1 validated p.V124 1.000 46 0% 79 25.3% 0 - - - - HMMPfam_Arrestin_N,superfamily_E set domains IL2RG 3561 genome.wustl.edu 37 X 70330099 70330099 + Missense_Mutation SNP T T A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000206.2 -1 reviewed p.E167D 0.997 125 0% 277 25.3% 14 0% benign(0.002) tolerated(0.68) neutral(0.002) HMMSmart_FN3,superfamily_FN_III-like MED12 9968 genome.wustl.edu 37 X 70349668 70349668 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_005120.2 +1 reviewed p.V1277A 1.000 18 0% 40 30% 7 0% benign(0) tolerated(0.71) neutral(0.002) NULL OGT 8473 genome.wustl.edu 37 X 70779260 70779260 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_181672.2 +1 reviewed p.N582 1.000 135 0% 189 27.5% 4 0% - - - NULL NHSL2 340527 genome.wustl.edu 37 X 71359562 71359562 + Missense_Mutation SNP C C G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001013627.2 +1 provisional p.P356A 1.000 67 0% 89 25.8% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL NAP1L2 4674 genome.wustl.edu 37 X 72433613 72433613 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_021963.2 -1 reviewed p.G239V 1.000 308 0% 308 35.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NAP CHIC1 53344 genome.wustl.edu 37 X 72804265 72804265 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001039840.2 +1 validated p.E122* 1.000 31 0% 32 15.6% 1 0% - - - HMMPfam_Erf4 RLIM 51132 genome.wustl.edu 37 X 73812165 73812165 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016120.3 -1 reviewed p.R329C 1.000 124 0% 136 33.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATRX 546 genome.wustl.edu 37 X 76812925 76812925 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000489.3 -1 reviewed p.P2232 0.999 309 0% 244 29.9% 5 80% - - - NULL ATP7A 538 genome.wustl.edu 37 X 77284779 77284779 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000052.4 +1 reviewed p.T983 0.340 402 0% 424 31.1% 1 0% - - - HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M SH3BGRL 6451 genome.wustl.edu 37 X 80532663 80532663 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003022.2 +1 validated p.R76C 1.000 127 0% 103 21.4% 5 0% benign(0.034) tolerated(1) neutral(0.002) HMMPfam_SH3BGR,superfamily_Thioredoxin-like SH3BGRL 6451 genome.wustl.edu 37 X 80533858 80533858 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003022.2 +1 validated p.E87G 1.000 123 0% 118 41.5% 12 0% probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_SH3BGR,superfamily_Thioredoxin-like SATL1 340562 genome.wustl.edu 37 X 84349970 84349970 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001012980.2 -1 validated p.L389I 0.622 20 0% 26 26.9% 0 - possibly_damaging(0.951) deleterious(0.02) deleterious(0.777) superfamily_Acyl_CoA_acyltransferase ZNF711 7552 genome.wustl.edu 37 X 84526800 84526800 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_021998.4 +1 reviewed p.H751P 1.000 232 0% 177 16.4% 0 - probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers KLHL4 56062 genome.wustl.edu 37 X 86924367 86924367 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_057162.2 +1 reviewed p.Q712H 0.001 167 0% 180 19.4% 0 - benign(0.038) - - HMMSmart_SM00612 DIAPH2 1730 genome.wustl.edu 37 X 96013171 96013171 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006729.4 +1 reviewed p.E121K 1.000 74 0% 84 32.1% 0 - unknown(0) deleterious(0.05) - HMMPfam_Drf_GBD PCDH19 57526 genome.wustl.edu 37 X 99551504 99551504 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001105243.1 -1 reviewed p.S1026N 1.000 186 0.5% 195 24.6% 5 0% benign(0.071) tolerated(0.09) neutral(0.301) NULL CENPI 2491 genome.wustl.edu 37 X 100381742 100381742 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006733.2 +1 reviewed p.F244L 0.762 529 0% 636 32.5% 1 0% benign(0.001) tolerated(1) - HMMPfam_Mis6 TAF7L 54457 genome.wustl.edu 37 X 100531502 100531502 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_024885.3 -1 reviewed p.R322W 0.718 222 0.9% 292 30.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ARMCX2 9823 genome.wustl.edu 37 X 100911900 100911900 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014782.5 -1 reviewed p.T225 0.000 99 0% 137 32.8% 19 0% - - - NULL ARMCX2 9823 genome.wustl.edu 37 X 100912397 100912397 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014782.5 -1 reviewed p.G60R 0.939 121 0% 147 25.2% 16 0% unknown(0) deleterious(0) - NULL GPRASP1 9737 genome.wustl.edu 37 X 101912340 101912340 + Missense_Mutation SNP C C T rs181661823 by1000genomes TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001099410.1 +1 reviewed p.R1167W 0.001 345 0% 473 27.9% 2 50% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_DUF634,superfamily_ARM-type_fold NXF3 56000 genome.wustl.edu 37 X 102334367 102334367 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_022052.1 -1 reviewed p.D419Y 0.952 173 0% 276 35.1% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_NTF2,superfamily_NTF2-like ENSG00000245920 0 genome.wustl.edu 37 X 102932165 102932165 + RNA SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000501276 +1 known NULL 0.000 18 0.000 9 0.556 2 0% - - - - IL1RAPL2 26280 genome.wustl.edu 37 X 105011511 105011511 + Missense_Mutation SNP A A G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017416.1 +1 reviewed p.T640A 1.000 302 0% 257 37.7% 0 - probably_damaging(0.972) deleterious(0.01) deleterious(0.820) NULL SERPINA7 6906 genome.wustl.edu 37 X 105278299 105278299 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_000354.5 -1 reviewed p.G324D 0.997 193 0% 215 38.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin MUM1L1 139221 genome.wustl.edu 37 X 105450438 105450438 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000337685 +1 known p.R338I 0.016 63 0% 76 31.6% 0 - benign(0.236) tolerated(0.11) neutral(0.295) NULL MUM1L1 139221 genome.wustl.edu 37 X 105450762 105450762 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e ENST00000337685 +1 known p.F446C 0.999 164 0% 151 32.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_SSF63748 TBC1D8B 54885 genome.wustl.edu 37 X 106046161 106046161 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017752.2 +1 validated p.F26 1.000 76 0% 84 22.6% 0 - - - - NULL TBC1D8B 54885 genome.wustl.edu 37 X 106065236 106065236 + Silent SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_017752.2 +1 validated p.C130 1.000 253 0% 155 29.7% 0 - - - - NULL PRPS1 5631 genome.wustl.edu 37 X 106871947 106871947 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_002764.3 +1 reviewed p.V30A 1.000 39 0% 50 32% 11 0% benign(0.001) tolerated(1) - NULL VSIG1 340547 genome.wustl.edu 37 X 107319371 107319371 + Silent SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_182607.4 +1 reviewed p.I251 0.000 358 0% 371 30.5% 0 - - - - NULL IRS4 8471 genome.wustl.edu 37 X 107976486 107976486 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003604.2 -1 reviewed p.A1030V 0.999 113 0% 120 20% 0 - benign(0.029) deleterious(0.02) neutral(0.385) NULL GUCY2F 2986 genome.wustl.edu 37 X 108695265 108695265 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001522.2 -1 reviewed p.A487T 1.000 121 0% 109 23.9% 0 - benign(0.002) tolerated(0.16) neutral(0.059) NULL RGAG1 57529 genome.wustl.edu 37 X 109695735 109695735 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_020769.2 +1 validated p.E630 0.002 210 0% 414 31.9% 0 - - - - NULL CHRDL1 91851 genome.wustl.edu 37 X 109924822 109924822 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001143981.1 -1 reviewed p.T348 0.007 234 0% 280 35.4% 1 0% - - - NULL LOC203510 203510 genome.wustl.edu 37 X 111933609 111933609 + Missense_Mutation SNP T T C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e XM_001723892.1 +1 model p.V156A 0.852 140 0% 138 29% 0 - - - - HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box SLC6A14 11254 genome.wustl.edu 37 X 115572201 115572201 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_007231.3 +1 reviewed p.C94W 0.999 510 0.2% 391 16.6% 0 - probably_damaging(0.954) deleterious(0) deleterious(0.842) HMMPfam_SNF ZCCHC12 170261 genome.wustl.edu 37 X 117960106 117960106 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_173798.2 +1 provisional p.R300I 0.557 180 0% 287 33.4% 1 0% benign(0.03) tolerated(0.19) neutral(0.051) NULL ATP1B4 23439 genome.wustl.edu 37 X 119504647 119504647 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001142447.2 +1 reviewed p.L136M 1.000 394 0% 450 31.1% 0 - probably_damaging(0.992) tolerated(0.15) deleterious(0.689) HMMPfam_Na_K-ATPase CT47B1 643311 genome.wustl.edu 37 X 120008941 120008941 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001145718.1 -1 validated p.S195L 0.000 33 6.1% 71 47.9% 0 - possibly_damaging(0.915) tolerated(0.95) neutral(0.366) NULL XIAP 331 genome.wustl.edu 37 X 123019576 123019576 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001167.2 +1 reviewed p.E22* 1.000 108 0% 112 25% 1 0% - - - superfamily_SSF57924 STAG2 10735 genome.wustl.edu 37 X 123176469 123176469 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001042749.1 +1 validated p.R146* 1.000 89 0% 92 32.6% 22 0% - - - NULL STAG2 10735 genome.wustl.edu 37 X 123215311 123215311 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001042749.1 +1 validated p.R953* 1.000 194 0% 193 28.5% 5 0% - - - superfamily_ARM-type_fold ODZ1 10178 genome.wustl.edu 37 X 123775791 123775791 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014253.3 -1 reviewed p.E643* 1.000 466 0% 426 28.4% 0 - - - - HMMPfam_EGF,HMMSmart_EGF,superfamily_SSF57196 ODZ1 10178 genome.wustl.edu 37 X 124028186 124028186 + Missense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014253.3 -1 reviewed p.P165H 0.999 209 0% 202 27.2% 0 - possibly_damaging(0.918) tolerated(0.06) deleterious(0.691) HMMPfam_Ten_N ODZ1 10178 genome.wustl.edu 37 X 124097522 124097522 + Silent SNP A A T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014253.3 -1 reviewed p.S27 0.014 591 0% 661 30.7% 0 - - - - HMMPfam_Ten_N DCAF12L2 340578 genome.wustl.edu 37 X 125298631 125298631 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001013628.2 -1 reviewed p.E426A 0.555 112 0% 58 29.3% 0 - benign(0.277) tolerated(0.52) neutral(0.038) NULL DCAF12L1 139170 genome.wustl.edu 37 X 125686023 125686023 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_178470.4 -1 reviewed p.R190H 0.015 21 0% 39 35.9% 0 - probably_damaging(0.988) tolerated(0.18) deleterious(0.493) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 DCAF12L1 139170 genome.wustl.edu 37 X 125686436 125686436 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_178470.4 -1 reviewed p.A52 0.200 11 0% 30 20% 0 - - - - NULL SMARCA1 6594 genome.wustl.edu 37 X 128649940 128649940 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_003069.3 -1 reviewed p.D154Y 1.000 228 0% 258 24.8% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases ZDHHC9 51114 genome.wustl.edu 37 X 128948662 128948662 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001008222.2 -1 reviewed p.F199 1.000 310 0% 448 29.9% 17 0% - - - NULL BCORL1 63035 genome.wustl.edu 37 X 129148542 129148542 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_021946.3 +1 reviewed p.F598L 0.996 44 0% 89 32.6% 1 0% benign(0.001) deleterious(0.02) neutral(0.383) NULL RAB33A 9363 genome.wustl.edu 37 X 129318675 129318675 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_004794.2 +1 reviewed p.F225 1.000 74 0% 109 25.7% 2 0% - - - superfamily_SSF52540 FAM122B 159090 genome.wustl.edu 37 X 133915875 133915875 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_145284.5 -1 validated p.A193V 0.025 129 0% 158 27.8% 6 100% benign(0.252) tolerated(0.24) neutral(0.064) NULL FAM122B 159090 genome.wustl.edu 37 X 133921558 133921558 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_145284.5 -1 validated p.F128 1.000 101 0% 113 29.2% 7 0% - - - NULL DDX26B 203522 genome.wustl.edu 37 X 134714084 134714084 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_182540.4 +1 validated p.R794* 0.974 99 0% 141 33.3% 0 - - - - NULL GPR112 139378 genome.wustl.edu 37 X 135429713 135429713 + Missense_Mutation SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_153834.3 +1 reviewed p.S1283Y 0.000 699 0% 597 32.3% 0 - possibly_damaging(0.911) deleterious(0.03) deleterious(0.728) NULL GPR112 139378 genome.wustl.edu 37 X 135445719 135445719 + Missense_Mutation SNP A A C novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_153834.3 +1 reviewed p.K2454T 1.000 238 0% 233 30% 0 - possibly_damaging(0.891) deleterious(0) deleterious(0.795) NULL BRS3 680 genome.wustl.edu 37 X 135570441 135570441 + Silent SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001727.1 +1 validated p.V56 1.000 160 0% 130 33.8% 0 - - - - superfamily_SSF81321 HTATSF1 27336 genome.wustl.edu 37 X 135593363 135593363 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_014500.4 +1 reviewed p.E487* 0.028 303 0% 249 35.7% 45 0% - - - NULL VGLL1 51442 genome.wustl.edu 37 X 135630910 135630910 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_016267.3 +1 reviewed p.R126Q 0.003 284 0.4% 359 24.5% 3 0% benign(0.14) tolerated(0.58) neutral(0.017) NULL ATP11C 286410 genome.wustl.edu 37 X 138844260 138844260 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_173694.4 -1 validated p.K837Q 1.000 401 0.2% 375 27.2% 0 - probably_damaging(0.956) deleterious(0.04) deleterious(0.748) superfamily_HAD-like ATP11C 286410 genome.wustl.edu 37 X 138870439 138870439 + Missense_Mutation SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_173694.4 -1 validated p.D481N 0.994 194 0% 200 30% 1 0% benign(0.017) tolerated(0.39) neutral(0.017) superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N PASD1 139135 genome.wustl.edu 37 X 150817104 150817104 + Missense_Mutation SNP G G A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_173493.2 +1 reviewed p.R216K 0.000 312 0% 297 28.6% 0 - probably_damaging(0.984) - - NULL PASD1 139135 genome.wustl.edu 37 X 150828229 150828229 + Missense_Mutation SNP A A T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_173493.2 +1 reviewed p.E254D 0.000 252 0% 229 14% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL PNMA5 114824 genome.wustl.edu 37 X 152159591 152159591 + Silent SNP C C T novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001103150.1 -1 validated p.E184 0.091 37 0% 89 38.2% 0 - - - - NULL SSR4 6748 genome.wustl.edu 37 X 153061980 153061980 + Silent SNP C C A novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_006280.1 +1 reviewed p.I53 0.997 6 0.000 34 0.265 798 0% - - - HMMPfam_TRAP-delta ARHGAP4 393 genome.wustl.edu 37 X 153184500 153184500 + Missense_Mutation SNP T T G novel TCGA-A5-A0GP-01A-11W-A062-09 TCGA-A5-A0GP-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af31eaf8-70aa-45e9-bc2f-fbf70563fa7f 8b217975-1c6c-43e6-965c-a5ac92950f1e NM_001666.4 -1 reviewed p.D273A 0.998 35 0% 63 28.6% 6 16.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL