#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
AADACL3	126767	genome.wustl.edu	37	1	12785847	12785847	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:12785847C>A	ENST00000359318.5	+	4	1142	c.937C>A	c.(937-939)Cac>Aac	p.H313N	AADACL3_ENST00000332530.3_Missense_Mutation_p.H243N	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	313							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CGTGACCTGGCACCATATGGA	0.502																																																	0													72.0	71.0	71.0					1																	12785847		1980	4146	6126	SO:0001583	missense	126767				CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.937C>A	1.37:g.12785847C>A	ENSP00000352268:p.His313Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXR9|Q5VUY1	Missense_Mutation	SNP	pfam_AB_hydrolase_3	p.H313N	ENST00000359318.5	37	c.937	CCDS41253.1	1	.	.	.	.	.	.	.	.	.	.	C	6.527	0.465450	0.12402	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.10382	2.88;2.88	5.54	0.34	0.15985	Alpha/beta hydrolase fold-3 (1);	0.779397	0.12669	N	0.448946	T	0.25494	0.0620	M	0.70787	2.145	0.22620	N	0.998921	D;B	0.64830	0.994;0.321	D;B	0.67103	0.949;0.187	T	0.13229	-1.0517	10	0.27785	T	0.31	-5.5756	9.7012	0.40187	0.0:0.4067:0.0:0.5933	.	313;243	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	N	243;313	ENSP00000333352:H243N;ENSP00000352268:H313N	ENSP00000333352:H243N	H	+	1	0	AADACL3	12708434	0.849000	0.29639	0.084000	0.20598	0.060000	0.15804	0.262000	0.18460	-0.197000	0.10350	-0.339000	0.08088	CAC	AADACL3	-	pfam_AB_hydrolase_3		0.502	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AADACL3	HGNC	protein_coding	OTTHUMT00000005324.2	C	NM_001103170		12785847	+1	no_errors	ENST00000359318	ensembl	human	known	70_37	missense	SNP	0.197	A
ABCA4	24	genome.wustl.edu	37	1	94486804	94486804	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:94486804C>G	ENST00000370225.3	-	35	5096	c.5010G>C	c.(5008-5010)gaG>gaC	p.E1670D	ABCA4_ENST00000536513.1_5'Flank	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1670					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACACTGTAATCTCTGAGAGCT	0.552																																																	0													193.0	185.0	188.0					1																	94486804		2203	4300	6503	SO:0001583	missense	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.5010G>C	1.37:g.94486804C>G	ENSP00000359245:p.Glu1670Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.E1670D	ENST00000370225.3	37	c.5010	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114107	0.37339	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	D	0.91068	-2.78	5.24	3.36	0.38483	.	0.158738	0.56097	N	0.000040	T	0.80969	0.4726	M	0.65498	2.005	0.80722	D	1	B	0.12013	0.005	B	0.20955	0.032	T	0.77330	-0.2628	10	0.45353	T	0.12	.	5.9046	0.18986	0.0:0.6263:0.1458:0.2279	.	1670	P78363	ABCA4_HUMAN	D	462;1670	ENSP00000359245:E1670D	ENSP00000359245:E1670D	E	-	3	2	ABCA4	94259392	0.981000	0.34729	0.905000	0.35620	0.883000	0.51084	0.233000	0.17911	0.770000	0.33336	0.655000	0.94253	GAG	ABCA4	-	tigrfam_Rim_ABC_transpt		0.552	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	C	NM_000350		94486804	-1	no_errors	ENST00000370225	ensembl	human	known	70_37	missense	SNP	1.000	G
ABCA4	24	genome.wustl.edu	37	1	94487408	94487408	+	Silent	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:94487408C>G	ENST00000370225.3	-	33	4853	c.4767G>C	c.(4765-4767)gtG>gtC	p.V1589V		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1589					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ATACCCCGCTCACATTCATGA	0.443																																																	0													62.0	66.0	65.0					1																	94487408		2203	4300	6503	SO:0001819	synonymous_variant	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.4767G>C	1.37:g.94487408C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.V1589	ENST00000370225.3	37	c.4767	CCDS747.1	1																																																																																			ABCA4	-	tigrfam_Rim_ABC_transpt		0.443	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	C	NM_000350		94487408	-1	no_errors	ENST00000370225	ensembl	human	known	70_37	silent	SNP	0.999	G
ACAP2	23527	genome.wustl.edu	37	3	195022848	195022848	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:195022848G>A	ENST00000326793.6	-	14	1402	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	391					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TTTCTCTTTGGACTCATTTCC	0.418																																																	0													149.0	167.0	161.0					3																	195022848		2203	4300	6503	SO:0001583	missense	23527				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1172C>T	3.37:g.195022848G>A	ENSP00000324287:p.Ser391Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.S391F	ENST00000326793.6	37	c.1172	CCDS33924.1	3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977012	0.74360	.	.	ENSG00000114331	ENST00000326793	T	0.52526	0.66	5.86	5.86	0.93980	.	0.309128	0.35838	N	0.002956	T	0.38081	0.1027	N	0.14661	0.345	0.49915	D	0.999835	B	0.32101	0.356	B	0.34652	0.187	T	0.33343	-0.9872	10	0.62326	D	0.03	.	19.174	0.93594	0.0:0.0:1.0:0.0	.	391	Q15057	ACAP2_HUMAN	F	391	ENSP00000324287:S391F	ENSP00000324287:S391F	S	-	2	0	ACAP2	196504137	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	9.869000	0.99810	2.777000	0.95525	0.591000	0.81541	TCC	ACAP2	-	NULL		0.418	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP2	HGNC	protein_coding	OTTHUMT00000342126.2	G	NM_012287		195022848	-1	no_errors	ENST00000326793	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAM18	8749	genome.wustl.edu	37	8	39505933	39505933	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr8:39505933G>C	ENST00000265707.5	+	12	1162	c.1117G>C	c.(1117-1119)Gag>Cag	p.E373Q	ADAM18_ENST00000379866.1_Missense_Mutation_p.E349Q|ADAM18_ENST00000541111.1_Intron	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	373	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTCAAAATTTGAGACTAAATG	0.348																																																	0													63.0	64.0	63.0					8																	39505933		2203	4300	6503	SO:0001583	missense	8749			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1117G>C	8.37:g.39505933G>C	ENSP00000265707:p.Glu373Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.E373Q	ENST00000265707.5	37	c.1117	CCDS6113.1	8	.	.	.	.	.	.	.	.	.	.	G	7.567	0.665998	0.14710	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.63417	-0.04;-0.04	5.4	4.51	0.55191	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.639474	0.13867	N	0.357285	T	0.61073	0.2318	L	0.58810	1.83	0.23016	N	0.998422	B;B	0.28760	0.185;0.221	B;B	0.39771	0.281;0.309	T	0.50906	-0.8772	10	0.13853	T	0.58	.	10.1732	0.42922	0.0915:0.0:0.9085:0.0	.	349;373	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	Q	373;349;305	ENSP00000265707:E373Q;ENSP00000369195:E349Q	ENSP00000265707:E373Q	E	+	1	0	ADAM18	39625090	0.012000	0.17670	0.035000	0.18076	0.155000	0.21991	1.867000	0.39499	2.803000	0.96430	0.585000	0.79938	GAG	ADAM18	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.348	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM18	HGNC	protein_coding	OTTHUMT00000376916.1	G	NM_014237		39505933	+1	no_errors	ENST00000265707	ensembl	human	known	70_37	missense	SNP	0.004	C
ADCY6	112	genome.wustl.edu	37	12	49162768	49162768	+	Silent	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:49162768C>T	ENST00000307885.4	-	20	4027	c.3333G>A	c.(3331-3333)gtG>gtA	p.V1111V	RP11-579D7.2_ENST00000548742.1_RNA|MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000357869.3_Silent_p.V1058V|ADCY6_ENST00000550422.1_Silent_p.V1058V	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	1111					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TAGAGACATTCACTGTGTTCC	0.612																																																	0													132.0	128.0	130.0					12																	49162768		2203	4300	6503	SO:0001819	synonymous_variant	112				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.3333G>A	12.37:g.49162768C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NR75|Q9UDB0	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.V1111	ENST00000307885.4	37	c.3333	CCDS8767.1	12																																																																																			ADCY6	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.612	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY6	HGNC	protein_coding	OTTHUMT00000408863.1	C	NM_020983		49162768	-1	no_errors	ENST00000307885	ensembl	human	known	70_37	silent	SNP	0.994	T
AFF3	3899	genome.wustl.edu	37	2	100289020	100289020	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:100289020C>T	ENST00000409236.2	-	10	1235	c.1123G>A	c.(1123-1125)Gat>Aat	p.D375N	AFF3_ENST00000317233.4_Missense_Mutation_p.D375N|AFF3_ENST00000409579.1_Missense_Mutation_p.D400N|AFF3_ENST00000356421.2_Missense_Mutation_p.D400N			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	375					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCCTCTTCATCACTGCTTAGC	0.423																																																	0													211.0	187.0	195.0					2																	100289020		2203	4300	6503	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1123G>A	2.37:g.100289020C>T	ENSP00000387207:p.Asp375Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.D400N	ENST00000409236.2	37	c.1198	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757586	0.89843	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.35	5.35	0.76521	.	0.245199	0.27922	N	0.017304	T	0.76154	0.3948	L	0.39245	1.2	0.38121	D	0.93785	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.78239	-0.2281	10	0.49607	T	0.09	.	17.247	0.87031	0.0:1.0:0.0:0.0	.	529;375;400	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	N	375;400;400;375;375;529;400	ENSP00000317421:D375N;ENSP00000348793:D400N;ENSP00000386834:D400N;ENSP00000387207:D375N	ENSP00000317421:D375N	D	-	1	0	AFF3	99655452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.038000	0.64177	2.513000	0.84729	0.655000	0.94253	GAT	AFF3	-	pfam_TF_AF4/FMR2		0.423	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	C	NM_002285		100289020	-1	no_errors	ENST00000356421	ensembl	human	known	70_37	missense	SNP	1.000	T
AHI1	54806	genome.wustl.edu	37	6	135751040	135751040	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr6:135751040C>G	ENST00000367800.4	-	16	2688	c.2472G>C	c.(2470-2472)ttG>ttC	p.L824F	AHI1_ENST00000457866.2_Missense_Mutation_p.L824F|AHI1_ENST00000417892.2_Missense_Mutation_p.L178F|AHI1_ENST00000327035.6_Missense_Mutation_p.L824F	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	824					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CCATAATTCTCAAAGTACTGT	0.308																																																	0													56.0	54.0	55.0					6																	135751040		1811	4074	5885	SO:0001583	missense	54806			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.2472G>C	6.37:g.135751040C>G	ENSP00000356774:p.Leu824Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain	p.L824F	ENST00000367800.4	37	c.2472	CCDS47483.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.52|17.52	3.411232|3.411232	0.62399|0.62399	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000417892;ENST00000265602;ENST00000327035;ENST00000367801|ENST00000367799	T;T;T;T;T|.	0.69806|.	-0.43;-0.43;-0.43;-0.43;-0.43|.	4.92|4.92	0.859|0.859	0.19036|0.19036	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.52645|.	0.1747|.	M|M	0.79805|0.79805	2.47|2.47	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.79784|.	0.993;0.984;0.96|.	T|.	0.54741|.	-0.8248|.	10|.	0.87932|.	D|.	0|.	-8.0532|-8.0532	6.1108|6.1108	0.20100|0.20100	0.0:0.5794:0.1279:0.2927|0.0:0.5794:0.1279:0.2927	.|.	824;824;824|.	Q8N157-2;Q8N157;Q4FD35|.	.;AHI1_HUMAN;.|.	F|S	824;824;178;824;824;824|324	ENSP00000356774:L824F;ENSP00000388650:L824F;ENSP00000416867:L178F;ENSP00000265602:L824F;ENSP00000322478:L824F|.	ENSP00000265602:L824F|.	L|X	-|-	3|2	2|2	AHI1|AHI1	135792733|135792733	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.241000|0.241000	0.18065|0.18065	0.470000|0.470000	0.27294|0.27294	0.585000|0.585000	0.79938|0.79938	TTG|TGA	AHI1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.308	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	AHI1	HGNC	protein_coding	OTTHUMT00000391948.1	C	NM_017651		135751040	-1	no_errors	ENST00000265602	ensembl	human	known	70_37	missense	SNP	1.000	G
AKAP13	11214	genome.wustl.edu	37	15	86087109	86087109	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr15:86087109C>G	ENST00000394518.2	+	5	680	c.585C>G	c.(583-585)atC>atG	p.I195M	AKAP13_ENST00000361243.2_Missense_Mutation_p.I195M	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	195					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTCTCAGTATCCACAACCAGG	0.577																																					Melanoma(94;603 1453 3280 32295 32951)												0													82.0	75.0	77.0					15																	86087109		2202	4299	6501	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.585C>G	15.37:g.86087109C>G	ENSP00000378026:p.Ile195Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.I195M	ENST00000394518.2	37	c.585	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311018	0.60414	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.36340	1.26;1.26	5.62	0.838	0.18902	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.38453	0.1041	N	0.24115	0.695	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.69142	0.916;0.962	T	0.23833	-1.0177	9	0.87932	D	0	.	6.8784	0.24158	0.3252:0.5238:0.0:0.151	.	195;195	Q12802;Q12802-2	AKP13_HUMAN;.	M	195;195;194;194	ENSP00000354718:I195M;ENSP00000378026:I195M	ENSP00000354718:I195M	I	+	3	3	AKAP13	83888113	0.993000	0.37304	1.000000	0.80357	0.986000	0.74619	0.219000	0.17641	0.260000	0.21731	-0.244000	0.11960	ATC	AKAP13	-	superfamily_Ankyrin_rpt-contain_dom		0.577	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	C	NM_007200		86087109	+1	no_errors	ENST00000361243	ensembl	human	known	70_37	missense	SNP	0.987	G
ALOXE3	59344	genome.wustl.edu	37	17	8000035	8000035	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:8000035G>C	ENST00000448843.2	-	16	2386	c.2046C>G	c.(2044-2046)atC>atG	p.I682M	ALOXE3_ENST00000318227.3_Missense_Mutation_p.I814M|ALOXE3_ENST00000380149.1_Missense_Mutation_p.I838M	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	682	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TGTCCCTTGAGATCTGGGCCA	0.637																																																	0													110.0	107.0	108.0					17																	8000035		2203	4300	6503	SO:0001583	missense	59344			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.2046C>G	17.37:g.8000035G>C	ENSP00000400581:p.Ile682Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C	p.I814M	ENST00000448843.2	37	c.2442	CCDS11130.1	17	.	.	.	.	.	.	.	.	.	.	G	16.50	3.142024	0.57044	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.81579	-1.51;-1.51;-1.51	5.13	3.03	0.35002	Lipoxygenase, C-terminal (3);	0.049115	0.85682	D	0.000000	D	0.87172	0.6111	M	0.87827	2.91	0.47123	D	0.999325	P;D;D	0.60160	0.69;0.987;0.987	P;D;D	0.67900	0.64;0.954;0.954	D	0.84522	0.0628	10	0.52906	T	0.07	-31.9908	3.5476	0.07835	0.2673:0.0:0.5532:0.1795	.	814;682;682	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	M	838;814;682	ENSP00000369494:I838M;ENSP00000314879:I814M;ENSP00000400581:I682M	ENSP00000314879:I814M	I	-	3	3	ALOXE3	7940760	0.974000	0.33945	0.999000	0.59377	0.913000	0.54294	-0.000000	0.12993	0.765000	0.33221	0.643000	0.83706	ATC	ALOXE3	-	pfam_LipOase_C,superfamily_LipOase_C		0.637	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOXE3	HGNC	protein_coding	OTTHUMT00000441475.1	G			8000035	-1	no_errors	ENST00000318227	ensembl	human	known	70_37	missense	SNP	0.999	C
ALPK3	57538	genome.wustl.edu	37	15	85383981	85383981	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr15:85383981G>C	ENST00000258888.5	+	5	2244	c.2077G>C	c.(2077-2079)Gag>Cag	p.E693Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	693					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCCAAAGGAGAGGCCACCAC	0.607																																																	0													52.0	50.0	51.0					15																	85383981		2203	4299	6502	SO:0001583	missense	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2077G>C	15.37:g.85383981G>C	ENSP00000258888:p.Glu693Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.E693Q	ENST00000258888.5	37	c.2077	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294533	0.60086	.	.	ENSG00000136383	ENST00000258888	T	0.63255	-0.03	5.23	5.23	0.72850	.	5.551380	0.01386	U	0.013087	T	0.73385	0.3580	L	0.32530	0.975	0.32576	N	0.529155	D	0.69078	0.997	P	0.61397	0.888	T	0.62191	-0.6906	10	0.66056	D	0.02	-28.3617	14.3314	0.66559	0.0:0.0:1.0:0.0	.	693	Q96L96	ALPK3_HUMAN	Q	693	ENSP00000258888:E693Q	ENSP00000258888:E693Q	E	+	1	0	ALPK3	83184985	0.870000	0.30015	0.930000	0.37139	0.205000	0.24178	2.762000	0.47597	2.444000	0.82710	0.557000	0.71058	GAG	ALPK3	-	NULL		0.607	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	G	NM_020778		85383981	+1	no_errors	ENST00000258888	ensembl	human	known	70_37	missense	SNP	0.876	C
ALX1	8092	genome.wustl.edu	37	12	85695176	85695176	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:85695176G>C	ENST00000316824.3	+	4	1059	c.904G>C	c.(904-906)Gaa>Caa	p.E302Q		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	302					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GCCAGAGTTTGAAAGGAGGTC	0.443																																																	0													102.0	98.0	99.0					12																	85695176		2203	4300	6503	SO:0001583	missense	8092			U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.904G>C	12.37:g.85695176G>C	ENSP00000315417:p.Glu302Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q546C8|Q96FH4	Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain	p.E302Q	ENST00000316824.3	37	c.904	CCDS9028.1	12	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124591	0.77436	.	.	ENSG00000180318	ENST00000316824	D	0.94828	-3.53	6.17	6.17	0.99709	Paired-like homeodomain protein, OAR (1);	0.000000	0.85682	D	0.000000	D	0.96090	0.8726	L	0.43152	1.355	0.80722	D	1	D	0.61697	0.99	D	0.65684	0.937	D	0.95508	0.8583	10	0.56958	D	0.05	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	302	Q15699	ALX1_HUMAN	Q	302	ENSP00000315417:E302Q	ENSP00000315417:E302Q	E	+	1	0	ALX1	84219307	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.635000	0.83286	2.941000	0.99782	0.655000	0.94253	GAA	ALX1	-	pfam_OAR_dom		0.443	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALX1	HGNC	protein_coding	OTTHUMT00000406072.1	G	NM_006982		85695176	+1	no_errors	ENST00000316824	ensembl	human	known	70_37	missense	SNP	1.000	C
AMBRA1	55626	genome.wustl.edu	37	11	46569828	46569828	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:46569828C>G	ENST00000458649.2	-	2	521	c.103G>C	c.(103-105)Gat>Cat	p.D35H	AMBRA1_ENST00000533727.1_Missense_Mutation_p.D35H|AMBRA1_ENST00000426438.1_Missense_Mutation_p.D35H|AMBRA1_ENST00000528950.1_Missense_Mutation_p.D35H|AMBRA1_ENST00000298834.3_Missense_Mutation_p.D35H|AMBRA1_ENST00000314845.3_Missense_Mutation_p.D35H|AMBRA1_ENST00000534300.1_Missense_Mutation_p.D35H			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	35					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CGGGTTTTATCTTCTACCAGC	0.517																																																	0													196.0	206.0	203.0					11																	46569828		2201	4299	6500	SO:0001583	missense	55626			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.103G>C	11.37:g.46569828C>G	ENSP00000415327:p.Asp35His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D35H	ENST00000458649.2	37	c.103		11	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103192	0.76983	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.71934	-0.44;-0.61;-0.26;-0.38;-0.26;-0.37;-0.38	6.08	6.08	0.98989	.	0.044251	0.85682	D	0.000000	T	0.80618	0.4657	L	0.39898	1.24	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.72338	0.95;0.977;0.977;0.967;0.977;0.967	T	0.80616	-0.1303	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	35;35;35;35;35;35	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	H	35	ENSP00000318313:D35H;ENSP00000433372:D35H;ENSP00000431926:D35H;ENSP00000410899:D35H;ENSP00000298834:D35H;ENSP00000415327:D35H;ENSP00000433945:D35H	ENSP00000298834:D35H	D	-	1	0	AMBRA1	46526404	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.130000	0.77235	2.894000	0.99253	0.591000	0.81541	GAT	AMBRA1	-	NULL		0.517	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	C	NM_017749		46569828	-1	no_errors	ENST00000458649	ensembl	human	known	70_37	missense	SNP	1.000	G
ANKHD1	54882	genome.wustl.edu	37	5	139889366	139889366	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr5:139889366C>T	ENST00000360839.2	+	21	4064	c.3910C>T	c.(3910-3912)Cac>Tac	p.H1304Y	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.H1304Y|ANKHD1_ENST00000297183.6_Missense_Mutation_p.H1304Y	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1304						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACAAAGGTCACTACAAATT	0.373																																																	0													79.0	74.0	76.0					5																	139889366		2203	4300	6503	SO:0001583	missense	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3910C>T	5.37:g.139889366C>T	ENSP00000354085:p.His1304Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.H1304Y	ENST00000360839.2	37	c.3910	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573171	0.86542	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.49	5.49	0.81192	Ankyrin repeat-containing domain (4);	0.112301	0.64402	D	0.000013	T	0.75361	0.3839	L	0.45744	1.44	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.994;0.996;0.991;0.991	D;D;D;D;D	0.78314	0.985;0.991;0.952;0.988;0.988	T	0.75045	-0.3456	10	0.54805	T	0.06	.	19.7382	0.96215	0.0:1.0:0.0:0.0	.	515;1304;1323;1304;1304	E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3	.;.;.;.;ANKH1_HUMAN	Y	1304;1337;1304;1304;838;515;1323;457;1304	ENSP00000354085:H1304Y;ENSP00000297183:H1304Y;ENSP00000394489:H1323Y;ENSP00000405602:H457Y;ENSP00000432016:H1304Y	ENSP00000432016:H1304Y	H	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139869550	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.666000	0.83877	2.741000	0.93983	0.585000	0.79938	CAC	ANKHD1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.373	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	C	NM_017747		139889366	+1	no_errors	ENST00000297183	ensembl	human	known	70_37	missense	SNP	1.000	T
APEX1	328	genome.wustl.edu	37	14	20923756	20923756	+	5'UTR	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr14:20923756G>A	ENST00000216714.3	+	0	220				APEX1_ENST00000557365.1_Intron|APEX1_ENST00000398030.4_5'UTR|APEX1_ENST00000555414.1_5'UTR|OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000557054.1_5'UTR|OSGEP_ENST00000206542.4_5'Flank	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1						aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	TAAAAATATTGCTTCGGTGGG	0.587								Other BER factors																																									0													59.0	55.0	57.0					14																	20923756		2203	4300	6503	SO:0001623	5_prime_UTR_variant	328			X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.-49G>A	14.37:g.20923756G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q969L5|Q99775	RNA	SNP	-	NULL	ENST00000216714.3	37	NULL	CCDS9550.1	14																																																																																			APEX1	-	-		0.587	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEX1	HGNC	protein_coding	OTTHUMT00000073641.3	G	NM_001641		20923756	+1	no_errors	ENST00000556296	ensembl	human	putative	70_37	rna	SNP	0.105	A
LVRN	206338	genome.wustl.edu	37	5	115339016	115339016	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr5:115339016G>C	ENST00000357872.4	+	12	2100	c.1976G>C	c.(1975-1977)aGa>aCa	p.R659T	AQPEP_ENST00000395528.2_Missense_Mutation_p.R176T	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		659						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										GGATATTATAGAGTTAATTAT	0.279																																																	0													53.0	60.0	57.0					5																	115339016		2198	4282	6480	SO:0001583	missense	206338																														ENST00000357872.4:c.1976G>C	5.37:g.115339016G>C	ENSP00000350541:p.Arg659Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.R659T	ENST00000357872.4	37	c.1976	CCDS4124.1	5	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938737	0.73557	.	.	ENSG00000172901	ENST00000395528;ENST00000357872;ENST00000379578	T;T	0.10005	2.92;2.92	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000001	T	0.42359	0.1199	M	0.91818	3.245	0.49299	D	0.999772	D	0.71674	0.998	D	0.69824	0.966	T	0.54193	-0.8330	10	0.72032	D	0.01	.	17.5103	0.87758	0.0:0.0:1.0:0.0	.	659	Q6Q4G3	AMPQ_HUMAN	T	176;659;648	ENSP00000378899:R176T;ENSP00000350541:R659T	ENSP00000350541:R659T	R	+	2	0	AC010282.1	115366915	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.206000	0.65192	2.498000	0.84270	0.460000	0.39030	AGA	AQPEP	-	NULL		0.279	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_genename	protein_coding	OTTHUMT00000250852.1	G			115339016	+1	no_errors	ENST00000357872	ensembl	human	known	70_37	missense	SNP	1.000	C
ARAP3	64411	genome.wustl.edu	37	5	141033523	141033523	+	Silent	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr5:141033523G>C	ENST00000239440.4	-	33	4694	c.4629C>G	c.(4627-4629)ctC>ctG	p.L1543L	FCHSD1_ENST00000522126.1_5'Flank|ARAP3_ENST00000512390.1_5'UTR|FCHSD1_ENST00000522783.1_5'Flank|ARAP3_ENST00000513878.1_Silent_p.L1192L|ARAP3_ENST00000508305.1_Silent_p.L1374L|FCHSD1_ENST00000435817.2_5'Flank|FCHSD1_ENST00000519800.1_5'Flank	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1543					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGGGTCATGTGAGGGGCTGGC	0.607																																																	0													51.0	57.0	55.0					5																	141033523		2200	4291	6491	SO:0001819	synonymous_variant	64411			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.4629C>G	5.37:g.141033523G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DIT1|D3DQE3	Silent	SNP	pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.L1543	ENST00000239440.4	37	c.4629	CCDS4266.1	5																																																																																			ARAP3	-	NULL		0.607	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	HGNC	protein_coding	OTTHUMT00000251805.1	G	NM_022481		141033523	-1	no_errors	ENST00000239440	ensembl	human	known	70_37	silent	SNP	1.000	C
ASAH2	56624	genome.wustl.edu	37	10	51974603	51974603	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr10:51974603G>A	ENST00000395526.4	-	8	1039	c.1040C>T	c.(1039-1041)tCa>tTa	p.S347L	ASAH2_ENST00000447815.1_Missense_Mutation_p.S347L|ASAH2_ENST00000443575.1_Missense_Mutation_p.S189L|ASAH2_ENST00000329428.6_Missense_Mutation_p.S328L	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	347					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)			large_intestine(1)|lung(9)|urinary_tract(1)	11						TAGGTTTGATGAAGCAAAGGC	0.443																																																	0													101.0	74.0	83.0					10																	51974603		2202	4294	6496	SO:0001583	missense	56624			AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.1040C>T	10.37:g.51974603G>A	ENSP00000378897:p.Ser347Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	pfam_Ceramidase_alk	p.S347L	ENST00000395526.4	37	c.1040	CCDS7239.2	10	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962410	0.92791	.	.	ENSG00000188611	ENST00000395526;ENST00000447815;ENST00000443575;ENST00000329428	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.26	5.26	0.73747	.	0.064020	0.64402	D	0.000004	T	0.63850	0.2546	M	0.88640	2.97	0.58432	D	0.999998	D;P	0.58268	0.982;0.947	P;P	0.54174	0.7;0.744	T	0.71839	-0.4471	10	0.59425	D	0.04	.	16.3694	0.83347	0.0:0.0:1.0:0.0	.	347;347	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	L	347;347;189;328	ENSP00000378897:S347L;ENSP00000388206:S347L;ENSP00000392766:S189L;ENSP00000329886:S328L	ENSP00000329886:S328L	S	-	2	0	ASAH2	51644609	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.947000	0.93000	2.463000	0.83235	0.455000	0.32223	TCA	ASAH2	-	pfam_Ceramidase_alk		0.443	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAH2	HGNC	protein_coding	OTTHUMT00000048061.3	G	NM_019893		51974603	-1	no_errors	ENST00000395526	ensembl	human	known	70_37	missense	SNP	1.000	A
BAAT	570	genome.wustl.edu	37	9	104133675	104133675	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr9:104133675C>G	ENST00000395051.3	-	1	82	c.12G>C	c.(10-12)ttG>ttC	p.L4F	BAAT_ENST00000259407.2_Missense_Mutation_p.L4F			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	4					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GGGTAGCTGTCAACTGGATCA	0.443																																																	0													57.0	52.0	54.0					9																	104133675		2203	4300	6503	SO:0001583	missense	570			L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.12G>C	9.37:g.104133675C>G	ENSP00000378491:p.Leu4Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3B7W9|Q96L31	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.L4F	ENST00000395051.3	37	c.12	CCDS6752.1	9	.	.	.	.	.	.	.	.	.	.	C	9.941	1.217534	0.22373	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.62498	0.02;0.02	4.41	1.23	0.21249	.	0.350263	0.20850	N	0.084554	T	0.74351	0.3705	M	0.89904	3.07	0.26357	N	0.977107	D	0.71674	0.998	D	0.65684	0.937	T	0.64232	-0.6456	10	0.62326	D	0.03	-3.7481	0.7627	0.01009	0.1946:0.3927:0.1889:0.2238	.	4	Q14032	BAAT_HUMAN	F	4	ENSP00000259407:L4F;ENSP00000378491:L4F	ENSP00000259407:L4F	L	-	3	2	BAAT	103173496	0.424000	0.25490	0.730000	0.30809	0.017000	0.09413	0.232000	0.17891	0.457000	0.26962	-0.136000	0.14681	TTG	BAAT	-	pirsf_Acyl-CoA_thioEstase_long-chain		0.443	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAAT	HGNC	protein_coding	OTTHUMT00000053433.1	C			104133675	-1	no_errors	ENST00000259407	ensembl	human	known	70_37	missense	SNP	0.560	G
BAP1	8314	genome.wustl.edu	37	3	52437848	52437848	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:52437848G>C	ENST00000460680.1	-	13	1784	c.1313C>G	c.(1312-1314)tCa>tGa	p.S438*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.S420*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTGCAGCACTGACAGTTGCCC	0.567			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0													101.0	104.0	103.0					3																	52437848		2203	4300	6503	SO:0001587	stop_gained	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1313C>G	3.37:g.52437848G>C	ENSP00000417132:p.Ser438*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	pfam_Peptidase_C12,prints_Peptidase_C12	p.S438*	ENST00000460680.1	37	c.1313	CCDS2853.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.46|15.46	2.840744|2.840744	0.51057|0.51057	.|.	.|.	ENSG00000163930|ENSG00000163930	ENST00000469613|ENST00000460680;ENST00000296288	.|.	.|.	.|.	6.05|6.05	5.14|5.14	0.70334|0.70334	.|.	.|0.320868	.|0.29722	.|N	.|0.011369	T|.	0.76835|.	0.4043|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79725|.	-0.1683|.	3|.	.|0.72032	.|D	.|0.01	.|.	17.3868|17.3868	0.87418|0.87418	0.0:0.1342:0.8658:0.0|0.0:0.1342:0.8658:0.0	.|.	.|.	.|.	.|.	E|X	30|438;420	.|.	.|ENSP00000296288:S420X	Q|S	-|-	1|2	0|0	BAP1|BAP1	52412888|52412888	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.908000|0.908000	0.53690|0.53690	3.543000|3.543000	0.53633|0.53633	2.880000|2.880000	0.98712|0.98712	0.655000|0.655000	0.94253|0.94253	CAG|TCA	BAP1	-	NULL		0.567	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAP1	HGNC	protein_coding	OTTHUMT00000350895.1	G			52437848	-1	no_errors	ENST00000460680	ensembl	human	known	70_37	nonsense	SNP	0.957	C
BARHL2	343472	genome.wustl.edu	37	1	91182448	91182448	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:91182448G>A	ENST00000370445.4	-	1	346	c.305C>T	c.(304-306)aCg>aTg	p.T102M		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	102	Gln/Pro-rich.				cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CAAACTTTGCGTcggggccgc	0.746																																					GBM(199;3561 4100 22440)												0													5.0	7.0	6.0					1																	91182448		2034	4053	6087	SO:0001583	missense	343472			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.305C>T	1.37:g.91182448G>A	ENSP00000359474:p.Thr102Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVP2|Q7Z4N7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.T102M	ENST00000370445.4	37	c.305	CCDS730.1	1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.600238	0.46423	.	.	ENSG00000143032	ENST00000370445	T	0.21932	1.98	6.02	6.02	0.97574	.	0.391617	0.21884	N	0.067681	T	0.07458	0.0188	N	0.14661	0.345	0.22675	N	0.998861	B	0.30870	0.298	B	0.31442	0.13	T	0.20075	-1.0286	10	0.42905	T	0.14	.	18.0311	0.89285	0.0:0.0:1.0:0.0	.	102	Q9NY43	BARH2_HUMAN	M	102	ENSP00000359474:T102M	ENSP00000359474:T102M	T	-	2	0	BARHL2	90955036	0.974000	0.33945	0.993000	0.49108	0.966000	0.64601	0.055000	0.14229	2.857000	0.98124	0.650000	0.86243	ACG	BARHL2	-	NULL		0.746	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARHL2	HGNC	protein_coding	OTTHUMT00000027728.2	G			91182448	-1	no_errors	ENST00000370445	ensembl	human	known	70_37	missense	SNP	0.991	A
RITA1	84934	genome.wustl.edu	37	12	113624747	113624747	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:113624747G>A	ENST00000548278.1	+	3	888	c.196G>A	c.(196-198)Gtg>Atg	p.V66M	RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Missense_Mutation_p.V90M|C12orf52_ENST00000549621.1_Missense_Mutation_p.V66M|DDX54_ENST00000314045.7_5'Flank|DDX54_ENST00000306014.5_5'Flank	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		66					negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						AACCAGAGGCGTGGGCAAGGA	0.617																																																	0													56.0	56.0	56.0					12																	113624747		2203	4300	6503	SO:0001583	missense	84934																														ENST00000548278.1:c.196G>A	12.37:g.113624747G>A	ENSP00000449841:p.Val66Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Missense_Mutation	SNP	NULL	p.V66M	ENST00000548278.1	37	c.196	CCDS9166.1	12	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987053	0.35036	.	.	ENSG00000139405	ENST00000549621;ENST00000548278;ENST00000552495;ENST00000436053;ENST00000299731;ENST00000266813	T;T;T	0.34472	1.38;1.38;1.36	4.86	-0.45	0.12223	.	0.924286	0.09016	N	0.860769	T	0.29158	0.0725	M	0.66939	2.045	0.09310	N	1	P;P;P	0.37398	0.593;0.593;0.593	B;B;B	0.27715	0.082;0.082;0.082	T	0.18241	-1.0343	10	0.51188	T	0.08	-2.2021	5.879	0.18844	0.2424:0.3974:0.3602:0.0	.	66;90;66	Q96K30-2;F8VRG5;Q96K30	.;.;RITA_HUMAN	M	66;66;90;66;66;66	ENSP00000448289:V66M;ENSP00000449841:V66M;ENSP00000448680:V90M	ENSP00000266813:V66M	V	+	1	0	C12orf52	112109130	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	-0.541000	0.06099	-0.018000	0.14079	-0.119000	0.15052	GTG	C12orf52	-	NULL		0.617	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf52	HGNC	protein_coding	OTTHUMT00000405239.1	G			113624747	+1	no_errors	ENST00000436053	ensembl	human	known	70_37	missense	SNP	0.000	A
C20orf24	55969	genome.wustl.edu	37	20	35238037	35238037	+	Silent	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr20:35238037C>G	ENST00000373852.5	+	3	387	c.252C>G	c.(250-252)ctC>ctG	p.L84L	TGIF2-C20orf24_ENST00000558530.1_Silent_p.L110L|C20orf24_ENST00000344795.3_Silent_p.L84L|C20orf24_ENST00000342422.3_Intron			Q9BUV8	CT024_HUMAN	chromosome 20 open reading frame 24	84										breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TCCTGTACCTCTACTTCAGCA	0.458																																																	0													301.0	253.0	269.0					20																	35238037		2203	4300	6503	SO:0001819	synonymous_variant	55969			AF112213	CCDS13279.1, CCDS13280.1, CCDS56190.1	20q11.23	2011-01-25			ENSG00000101084	ENSG00000101084			15870	protein-coding gene	gene with protein product						15178406	Standard	NM_018840		Approved	PNAS-11, RIP5		Q9BUV8	OTTHUMG00000032384	ENST00000373852.5:c.252C>G	20.37:g.35238037C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5U0|O00605|Q5QPG6|Q5QPG7|Q9BT03|Q9BZU7|Q9UI05	Silent	SNP	NULL	p.L84	ENST00000373852.5	37	c.252	CCDS56190.1	20																																																																																			C20orf24	-	NULL		0.458	C20orf24-001	KNOWN	basic|CCDS	protein_coding	C20orf24	HGNC	protein_coding	OTTHUMT00000079006.1	C	NM_018840		35238037	+1	no_errors	ENST00000373852	ensembl	human	known	70_37	silent	SNP	1.000	G
CAPRIN1	4076	genome.wustl.edu	37	11	34097786	34097786	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:34097786C>G	ENST00000341394.4	+	5	559	c.370C>G	c.(370-372)Cag>Gag	p.Q124E	CAPRIN1_ENST00000532820.1_Missense_Mutation_p.Q124E|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.Q43E|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.Q124E|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.Q124E	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	124					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TTTGCAGATTCAGAAAACAAT	0.323																																																	0													48.0	52.0	51.0					11																	34097786		2202	4298	6500	SO:0001583	missense	4076			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.370C>G	11.37:g.34097786C>G	ENSP00000340329:p.Gln124Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	pfam_Caprin-1_C	p.Q124E	ENST00000341394.4	37	c.370	CCDS31453.1	11	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692654	0.88735	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000534825;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	L	0.33710	1.025	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.78314	0.98;0.991	T	0.03157	-1.1066	10	0.02654	T	1	.	19.8632	0.96793	0.0:1.0:0.0:0.0	.	124;124	Q14444;Q14444-2	CAPR1_HUMAN;.	E	124;124;124;124;124;43	ENSP00000340329:Q124E;ENSP00000374296:Q124E;ENSP00000431373:Q124E;ENSP00000434150:Q124E;ENSP00000434204:Q124E;ENSP00000431581:Q43E	ENSP00000340329:Q124E	Q	+	1	0	CAPRIN1	34054362	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.228000	0.78079	2.704000	0.92352	0.561000	0.74099	CAG	CAPRIN1	-	NULL		0.323	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	CAPRIN1	HGNC	protein_coding	OTTHUMT00000388680.2	C	NM_005898		34097786	+1	no_errors	ENST00000341394	ensembl	human	known	70_37	missense	SNP	1.000	G
CCDC108	255101	genome.wustl.edu	37	2	219875665	219875665	+	Silent	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:219875665G>A	ENST00000341552.5	-	25	4094	c.4011C>T	c.(4009-4011)acC>acT	p.T1337T	CCDC108_ENST00000453220.1_Silent_p.T1337T|CCDC108_ENST00000441968.1_Silent_p.T1337T|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1337						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAGGACATCGGTCTGGACCT	0.522																																																	0													65.0	68.0	67.0					2																	219875665		2203	4300	6503	SO:0001819	synonymous_variant	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4011C>T	2.37:g.219875665G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.T1337	ENST00000341552.5	37	c.4011	CCDS2430.2	2																																																																																			CCDC108	-	NULL		0.522	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	G	NM_194302		219875665	-1	no_errors	ENST00000341552	ensembl	human	known	70_37	silent	SNP	0.171	A
CCDC57	284001	genome.wustl.edu	37	17	80151681	80151681	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:80151681G>A	ENST00000389641.4	-	6	838	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	CCDC57_ENST00000392347.1_Missense_Mutation_p.H268Y|CCDC57_ENST00000392343.3_Missense_Mutation_p.H268Y			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	268										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TGCACAGAGTGAAGTTTATCC	0.443																																																	0													94.0	89.0	91.0					17																	80151681		1931	4139	6070	SO:0001583	missense	284001			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.802C>T	17.37:g.80151681G>A	ENSP00000374292:p.His268Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	NULL	p.H268Y	ENST00000389641.4	37	c.802		17	.	.	.	.	.	.	.	.	.	.	g	4.461	0.085438	0.08583	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.22945	3.09;3.09;1.93	4.78	0.423	0.16463	.	1.246340	0.05489	N	0.556198	T	0.12347	0.0300	N	0.08118	0	0.09310	N	0.999996	B;B	0.14012	0.009;0.009	B;B	0.12156	0.007;0.007	T	0.28554	-1.0040	10	0.30078	T	0.28	-9.3445	3.7684	0.08632	0.2846:0.0:0.546:0.1695	.	268;268	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	Y	268	ENSP00000374292:H268Y;ENSP00000376158:H268Y;ENSP00000376154:H268Y	ENSP00000374292:H268Y	H	-	1	0	CCDC57	77744970	0.002000	0.14202	0.007000	0.13788	0.747000	0.42532	0.671000	0.25172	-0.056000	0.13221	0.558000	0.71614	CAC	CCDC57	-	NULL		0.443	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC57	HGNC	protein_coding	OTTHUMT00000277182.3	G	NM_198082		80151681	-1	no_errors	ENST00000389641	ensembl	human	known	70_37	missense	SNP	0.083	A
CCNK	8812	genome.wustl.edu	37	14	99976674	99976674	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr14:99976674C>G	ENST00000389879.5	+	11	1421	c.1298C>G	c.(1297-1299)tCc>tGc	p.S433C	RP11-688G15.3_ENST00000557733.1_RNA|CCNK_ENST00000555049.1_Intron	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	433					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ACCGGGATGTCCACCACCAGC	0.701																																																	0													20.0	22.0	21.0					14																	99976674		1917	4113	6030	SO:0001583	missense	8812			AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.1298C>G	14.37:g.99976674C>G	ENSP00000374529:p.Ser433Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59FT6|Q86U16|Q96B63|Q9NNY9	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.S433C	ENST00000389879.5	37	c.1298	CCDS45160.1	14	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039729	0.35989	.	.	ENSG00000090061	ENST00000437596;ENST00000389879	T	0.31247	1.5	3.96	2.09	0.27110	.	0.279169	0.35585	N	0.003103	T	0.19127	0.0459	L	0.27053	0.805	0.80722	D	1	P	0.51653	0.947	B	0.40741	0.339	T	0.02150	-1.1205	10	0.62326	D	0.03	-13.7246	8.0084	0.30338	0.1587:0.7564:0.0:0.0848	.	433	O75909	CCNK_HUMAN	C	453;433	ENSP00000374529:S433C	ENSP00000374529:S433C	S	+	2	0	CCNK	99046427	1.000000	0.71417	0.998000	0.56505	0.682000	0.39822	6.814000	0.75236	0.335000	0.23614	-0.350000	0.07774	TCC	CCNK	-	NULL		0.701	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNK	HGNC	protein_coding	OTTHUMT00000413721.1	C			99976674	+1	no_errors	ENST00000389879	ensembl	human	known	70_37	missense	SNP	1.000	G
CEP76	79959	genome.wustl.edu	37	18	12699876	12699876	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr18:12699876G>C	ENST00000262127.2	-	3	473	c.248C>G	c.(247-249)tCt>tGt	p.S83C	CEP76_ENST00000423709.2_Missense_Mutation_p.S83C|CEP76_ENST00000586887.1_5'UTR|PSMG2_ENST00000317615.6_5'Flank|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	83					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGTTTTGGAGAGGAAGGGAG	0.279																																																	0													30.0	29.0	29.0					18																	12699876		2202	4299	6501	SO:0001583	missense	79959			BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.248C>G	18.37:g.12699876G>C	ENSP00000262127:p.Ser83Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.S83C	ENST00000262127.2	37	c.248	CCDS11861.1	18	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557115	0.45590	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	T;T	0.80824	-1.38;-1.42	5.79	5.79	0.91817	.	0.299670	0.37530	N	0.002053	D	0.82328	0.5013	L	0.34521	1.04	0.25836	N	0.984117	D;D;P	0.69078	0.997;0.982;0.457	P;P;B	0.60473	0.875;0.642;0.35	T	0.76277	-0.3018	10	0.54805	T	0.06	-16.6897	13.6524	0.62318	0.0:0.0:0.8457:0.1543	.	83;83;83	B4DP81;Q8TAP6-2;Q8TAP6	.;.;CEP76_HUMAN	C	83	ENSP00000262127:S83C;ENSP00000403074:S83C	ENSP00000262127:S83C	S	-	2	0	CEP76	12689876	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	3.311000	0.51919	2.734000	0.93682	0.655000	0.94253	TCT	CEP76	-	NULL		0.279	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP76	HGNC	protein_coding	OTTHUMT00000254611.1	G	NM_024899		12699876	-1	no_errors	ENST00000262127	ensembl	human	known	70_37	missense	SNP	0.996	C
CHD4	1108	genome.wustl.edu	37	12	6707155	6707155	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:6707155C>G	ENST00000357008.2	-	12	1960	c.1797G>C	c.(1795-1797)aaG>aaC	p.K599N	CHD4_ENST00000544484.1_Missense_Mutation_p.K596N|CHD4_ENST00000309577.6_Missense_Mutation_p.K599N|CHD4_ENST00000544040.1_Missense_Mutation_p.K592N	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	599					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GGTCCTTGTTCTTTCGCTTTC	0.478																																					Colon(32;586 792 4568 16848 45314)												0													214.0	206.0	209.0					12																	6707155		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1797G>C	12.37:g.6707155C>G	ENSP00000349508:p.Lys599Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IXZ5	Missense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.K599N	ENST00000357008.2	37	c.1797	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	C	8.681	0.905216	0.17760	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90844	-2.72;-2.74;-2.72;-2.74	3.83	1.94	0.25998	Chromo domain-like (1);	0.000000	0.85682	D	0.000000	D	0.94013	0.8082	M	0.82323	2.585	0.49051	D	0.999743	D;D;D	0.89917	1.0;0.999;0.983	D;D;P	0.83275	0.996;0.968;0.694	D	0.91439	0.5172	10	0.72032	D	0.01	-4.9585	6.5429	0.22390	0.0:0.6011:0.1402:0.2587	.	599;599;592	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	N	596;592;599;599;573	ENSP00000440392:K596N;ENSP00000440542:K592N;ENSP00000312419:K599N;ENSP00000349508:K599N	ENSP00000312419:K599N	K	-	3	2	CHD4	6577416	0.999000	0.42202	0.502000	0.27614	0.001000	0.01503	0.716000	0.25836	-0.004000	0.14419	-2.689000	0.00140	AAG	CHD4	-	superfamily_Chromodomain-like		0.478	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		C	NM_001273		6707155	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	missense	SNP	1.000	G
CHN1	1123	genome.wustl.edu	37	2	175673663	175673663	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:175673663C>T	ENST00000409900.3	-	11	1385	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N	CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409156.3_Missense_Mutation_p.D332N|CHN1_ENST00000295497.7_Missense_Mutation_p.D233N|CHN1_ENST00000409597.1_Missense_Mutation_p.D174N	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	358	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			GGGTAGGCATCATATGTAATG	0.378			T	TAF15	extraskeletal myxoid chondrosarcoma																																			Dom	yes		2	2q31-q32.1	1123	chimerin (chimaerin) 1		M	0													274.0	268.0	270.0					2																	175673663		1890	4113	6003	SO:0001583	missense	1123				CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.1072G>A	2.37:g.175673663C>T	ENSP00000386741:p.Asp358Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd	p.D358N	ENST00000409900.3	37	c.1072	CCDS46455.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.545904	0.96488	.	.	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156;ENST00000409089;ENST00000444394;ENST00000413882;ENST00000443238	T;T;T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16	4.97	4.97	0.65823	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.042800	0.85682	D	0.000000	T	0.40448	0.1117	L	0.55481	1.735	0.80722	D	1	D;D;D	0.59767	0.986;0.975;0.967	P;P;P	0.62649	0.905;0.905;0.732	T	0.10154	-1.0642	10	0.46703	T	0.11	.	17.5651	0.87917	0.0:1.0:0.0:0.0	.	332;358;233	B4DV19;P15882;P15882-2	.;CHIN_HUMAN;.	N	358;233;174;332;150;133;176;184	ENSP00000386741:D358N;ENSP00000295497:D233N;ENSP00000386469:D174N;ENSP00000386470:D332N;ENSP00000386322:D150N;ENSP00000411911:D133N;ENSP00000410496:D176N;ENSP00000409798:D184N	ENSP00000295497:D233N	D	-	1	0	CHN1	175381909	1.000000	0.71417	0.921000	0.36526	0.996000	0.88848	7.776000	0.85560	2.458000	0.83093	0.455000	0.32223	GAT	CHN1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_RhoGAP_dom		0.378	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHN1	HGNC	protein_coding	OTTHUMT00000334453.1	C	NM_001822		175673663	-1	no_errors	ENST00000409900	ensembl	human	known	70_37	missense	SNP	1.000	T
CNGB3	54714	genome.wustl.edu	37	8	87588313	87588313	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr8:87588313C>T	ENST00000320005.5	-	18	2196	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	717					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						tgtttatcttcattttctttt	0.313																																																	0													66.0	68.0	67.0					8																	87588313		2203	4300	6503	SO:0001583	missense	54714			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2149G>A	8.37:g.87588313C>T	ENSP00000316605:p.Glu717Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JA51|Q9NRE9	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E717K	ENST00000320005.5	37	c.2149	CCDS6244.1	8	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280428	0.23392	.	.	ENSG00000170289	ENST00000320005	T	0.61510	0.1	3.04	2.15	0.27550	.	7.689020	0.03490	U	0.216411	T	0.35008	0.0917	N	0.08118	0	0.19775	N	0.99996	B;B	0.26483	0.15;0.093	B;B	0.23852	0.049;0.022	T	0.25537	-1.0129	10	0.07175	T	0.84	.	8.0946	0.30820	0.0:0.8759:0.0:0.1241	.	712;717	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	K	717	ENSP00000316605:E717K	ENSP00000316605:E717K	E	-	1	0	CNGB3	87657429	0.002000	0.14202	0.166000	0.22797	0.607000	0.37147	-0.383000	0.07398	0.830000	0.34757	0.446000	0.29264	GAA	CNGB3	-	NULL		0.313	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1	C	NM_019098		87588313	-1	no_errors	ENST00000320005	ensembl	human	known	70_37	missense	SNP	0.389	T
CNTLN	54875	genome.wustl.edu	37	9	17502646	17502646	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr9:17502646G>C	ENST00000380647.3	+	26	4301	c.4217G>C	c.(4216-4218)aGa>aCa	p.R1406T	CNTLN_ENST00000425824.1_Missense_Mutation_p.R1406T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	0					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAAGATATTAGATGATATTAA	0.323																																																	0													29.0	26.0	27.0					9																	17502646		1777	4044	5821	SO:0001583	missense	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.4217G>C	9.37:g.17502646G>C	ENSP00000370021:p.Arg1406Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.R1406T	ENST00000380647.3	37	c.4217	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214879	0.39102	.	.	ENSG00000044459	ENST00000380647;ENST00000425824	T;T	0.19669	2.13;2.13	5.63	4.73	0.59995	.	.	.	.	.	T	0.13415	0.0325	N	0.19112	0.55	0.52099	D	0.999941	B	0.20671	0.047	B	0.17979	0.02	T	0.05903	-1.0857	9	0.72032	D	0.01	.	7.4574	0.27274	0.0912:0.1685:0.7403:0.0	.	1406	Q9NXG0-2	.	T	1406	ENSP00000370021:R1406T;ENSP00000392798:R1406T	ENSP00000370021:R1406T	R	+	2	0	CNTLN	17492646	0.997000	0.39634	0.929000	0.37066	0.982000	0.71751	1.281000	0.33214	1.350000	0.45770	0.655000	0.94253	AGA	CNTLN	-	NULL		0.323	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	G	NM_017738		17502646	+1	no_errors	ENST00000380647	ensembl	human	known	70_37	missense	SNP	0.555	C
CNTNAP1	8506	genome.wustl.edu	37	17	40844536	40844536	+	Silent	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:40844536C>T	ENST00000264638.4	+	17	2767	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	850	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ATGTGGTCTTCGCCTTTGATG	0.517																																																	0													146.0	126.0	133.0					17																	40844536		2203	4300	6503	SO:0001819	synonymous_variant	8506			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2550C>T	17.37:g.40844536C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.F850	ENST00000264638.4	37	c.2550	CCDS11436.1	17																																																																																			CNTNAP1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.517	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1	C	NM_003632		40844536	+1	no_errors	ENST00000264638	ensembl	human	known	70_37	silent	SNP	0.856	T
COL4A2	1284	genome.wustl.edu	37	13	111088655	111088655	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr13:111088655G>T	ENST00000360467.5	+	13	1072	c.766G>T	c.(766-768)Gac>Tac	p.D256Y		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	256	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GATTCCATCAGACACCCTCCA	0.453																																																	0													91.0	97.0	95.0					13																	111088655		1952	4134	6086	SO:0001583	missense	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.766G>T	13.37:g.111088655G>T	ENSP00000353654:p.Asp256Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.D256Y	ENST00000360467.5	37	c.766	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	G	11.65	1.700604	0.30142	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.91295	-2.82	4.84	3.99	0.46301	.	0.427103	0.19522	N	0.112254	D	0.91099	0.7198	M	0.78049	2.395	0.09310	N	1	P	0.43094	0.799	P	0.45946	0.498	D	0.84918	0.0852	10	0.59425	D	0.04	.	9.4238	0.38567	0.0994:0.0:0.9006:0.0	.	256	P08572	CO4A2_HUMAN	Y	256	ENSP00000353654:D256Y	ENSP00000257309:D256Y	D	+	1	0	COL4A2	109886656	0.894000	0.30519	0.012000	0.15200	0.000000	0.00434	4.057000	0.57455	1.167000	0.42706	-0.266000	0.10368	GAC	COL4A2	-	NULL		0.453	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	G	NM_001846		111088655	+1	no_errors	ENST00000360467	ensembl	human	known	70_37	missense	SNP	0.049	T
COL8A1	1295	genome.wustl.edu	37	3	99514078	99514078	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:99514078G>A	ENST00000261037.3	+	5	1713	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	COL8A1_ENST00000273342.4_Missense_Mutation_p.E445K	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	445	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TTTCCTTGGTGAAGTAGGGCC	0.607																																																	0													37.0	34.0	35.0					3																	99514078		2203	4300	6503	SO:0001583	missense	1295			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1333G>A	3.37:g.99514078G>A	ENSP00000261037:p.Glu445Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.E445K	ENST00000261037.3	37	c.1333	CCDS2934.1	3	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506542	0.64410	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.93659	-3.26;-3.26	5.95	5.95	0.96441	.	0.198059	0.51477	D	0.000082	D	0.90177	0.6930	L	0.48218	1.51	0.58432	D	0.999999	P;P	0.44734	0.842;0.675	B;B	0.40165	0.321;0.242	D	0.87938	0.2715	10	0.10636	T	0.68	.	17.8686	0.88804	0.0:0.0:1.0:0.0	.	446;445	E7EPK9;P27658	.;CO8A1_HUMAN	K	445	ENSP00000261037:E445K;ENSP00000273342:E445K	ENSP00000261037:E445K	E	+	1	0	COL8A1	100996768	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.824000	0.99380	2.817000	0.96982	0.563000	0.77884	GAA	COL8A1	-	pfam_Collagen		0.607	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL8A1	HGNC	protein_coding	OTTHUMT00000309001.1	G	NM_001850		99514078	+1	no_errors	ENST00000261037	ensembl	human	known	70_37	missense	SNP	1.000	A
CREBBP	1387	genome.wustl.edu	37	16	3794922	3794922	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr16:3794922G>A	ENST00000262367.5	-	23	4764	c.3955C>T	c.(3955-3957)Cga>Tga	p.R1319*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.R1281*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1319	Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTTTCTTTTCGAGGTCTGCCA	0.368			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													114.0	106.0	108.0					16																	3794922		2197	4300	6497	SO:0001587	stop_gained	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3955C>T	16.37:g.3794922G>A	ENSP00000262367:p.Arg1319*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.R1319*	ENST00000262367.5	37	c.3955	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.814886	0.96982	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.49	4.51	0.55191	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.6244	15.8521	0.78940	0.0:0.0:0.8632:0.1368	.	.	.	.	X	1319;1349;1281	.	ENSP00000262367:R1319X	R	-	1	2	CREBBP	3734923	0.998000	0.40836	0.995000	0.50966	0.998000	0.95712	2.616000	0.46376	1.419000	0.47118	0.561000	0.74099	CGA	CREBBP	-	superfamily_Znf_FYVE_PHD		0.368	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	G	NM_004380		3794922	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	nonsense	SNP	0.990	A
CX3CL1	6376	genome.wustl.edu	37	16	57416206	57416206	+	Silent	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr16:57416206G>A	ENST00000006053.6	+	3	567	c.456G>A	c.(454-456)ggG>ggA	p.G152G	CX3CL1_ENST00000565912.1_Silent_p.G114G|CX3CL1_ENST00000564948.1_3'UTR|CX3CL1_ENST00000563383.1_Silent_p.G158G	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	152	Mucin-like stalk.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGGCCCTGGGGACCTCCCCAG	0.662																																																	0													26.0	30.0	28.0					16																	57416206		2195	4283	6478	SO:0001819	synonymous_variant	6376			U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.456G>A	16.37:g.57416206G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O00672	Silent	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_fractalkine_CX3CL1	p.G152	ENST00000006053.6	37	c.456	CCDS10779.1	16																																																																																			CX3CL1	-	NULL		0.662	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CL1	HGNC	protein_coding	OTTHUMT00000257345.3	G	NM_002996		57416206	+1	no_errors	ENST00000006053	ensembl	human	known	70_37	silent	SNP	0.136	A
CXorf40B	541578	genome.wustl.edu	37	X	149100845	149100845	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:149100845C>T	ENST00000370406.3	-	5	1222	c.394G>A	c.(394-396)Gag>Aag	p.E132K	XX-FW81066F1.2_ENST00000457775.1_RNA|CXorf40B_ENST00000462691.1_Missense_Mutation_p.E132K|CXorf40B_ENST00000355203.2_Missense_Mutation_p.E132K|CXorf40B_ENST00000370404.1_Missense_Mutation_p.E132K			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	132										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GGTATGGGCTCCAGTAACCAC	0.502																																																	0													151.0	129.0	137.0					X																	149100845		2201	4297	6498	SO:0001583	missense	541578			BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021			17402	protein-coding gene	gene with protein product							Standard	XM_005274698		Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.394G>A	X.37:g.149100845C>T	ENSP00000359434:p.Glu132Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_PUA-like_domain	p.E132K	ENST00000370406.3	37	c.394	CCDS35426.1	X	.	.	.	.	.	.	.	.	.	.	c	12.65	2.001158	0.35320	.	.	ENSG00000197021	ENST00000462691;ENST00000370406;ENST00000355203;ENST00000370404	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	3.22	-5.66	0.02451	PUA-like domain (1);	0.896831	0.09700	N	0.767074	D	0.89784	0.6815	M	0.66939	2.045	0.35877	D	0.828686	B	0.11235	0.004	B	0.11329	0.006	T	0.73313	-0.4022	10	0.56958	D	0.05	-17.352	15.8802	0.79197	0.0:0.5798:0.4202:0.0	.	132	Q96DE9	CX04B_HUMAN	K	132	ENSP00000417546:E132K;ENSP00000359434:E132K;ENSP00000347339:E132K;ENSP00000359432:E132K	ENSP00000347339:E132K	E	-	1	0	CXorf40B	148851503	0.995000	0.38212	0.182000	0.23118	0.829000	0.46940	0.512000	0.22755	-0.903000	0.03881	0.292000	0.19580	GAG	CXorf40B	-	superfamily_PUA-like_domain		0.502	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf40B	HGNC	protein_coding	OTTHUMT00000082896.2	C	NP_001013867		149100845	-1	no_errors	ENST00000355203	ensembl	human	known	70_37	missense	SNP	0.781	T
DCC	1630	genome.wustl.edu	37	18	50731697	50731697	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr18:50731697G>C	ENST00000442544.2	+	10	2301	c.1685G>C	c.(1684-1686)aGa>aCa	p.R562T	DCC_ENST00000412726.1_Missense_Mutation_p.R410T|DCC_ENST00000581580.1_Missense_Mutation_p.R217T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	562	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAAGGTTACAGATTGTTCTGC	0.488																																																	0													200.0	181.0	188.0					18																	50731697		2203	4300	6503	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1685G>C	18.37:g.50731697G>C	ENSP00000389140:p.Arg562Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R562T	ENST00000442544.2	37	c.1685	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217488	0.39201	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.57907	0.37;0.37	5.78	5.78	0.91487	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66499	0.2795	L	0.39397	1.21	0.47698	D	0.999493	P;P;D	0.71674	0.942;0.942;0.998	P;P;D	0.74023	0.828;0.762;0.982	T	0.67684	-0.5607	10	0.87932	D	0	.	18.7793	0.91925	0.0:0.0:1.0:0.0	.	410;410;562	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	T	562;495;410	ENSP00000389140:R562T;ENSP00000397322:R410T	ENSP00000304146:R495T	R	+	2	0	DCC	48985695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.952000	0.63618	2.722000	0.93159	0.655000	0.94253	AGA	DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.488	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	G	NM_005215		50731697	+1	no_errors	ENST00000442544	ensembl	human	known	70_37	missense	SNP	1.000	C
DDR2	4921	genome.wustl.edu	37	1	162746018	162746018	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:162746018G>A	ENST00000367922.3	+	17	2579	c.2141G>A	c.(2140-2142)cGa>cAa	p.R714Q	RN7SL861P_ENST00000473793.2_RNA|DDR2_ENST00000367921.3_Missense_Mutation_p.R714Q	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	714	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	CTGGCCACACGAAACTGTTTA	0.458																																					NSCLC(161;314 2006 8283 19651 23192)												0													154.0	152.0	153.0					1																	162746018		2203	4300	6503	SO:0001583	missense	4921			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2141G>A	1.37:g.162746018G>A	ENSP00000356899:p.Arg714Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z730	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R714Q	ENST00000367922.3	37	c.2141	CCDS1241.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.499895	0.96355	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.87334	-2.24;-2.24	5.18	5.18	0.71444	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93664	0.7976	M	0.87971	2.92	0.39311	D	0.965087	D	0.89917	1.0	D	0.97110	1.0	D	0.94005	0.7279	9	0.59425	D	0.04	.	17.6139	0.88063	0.0:0.0:1.0:0.0	.	714	Q16832	DDR2_HUMAN	Q	714	ENSP00000356899:R714Q;ENSP00000356898:R714Q	ENSP00000356898:R714Q	R	+	2	0	DDR2	161012642	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.671000	0.98627	2.541000	0.85698	0.637000	0.83480	CGA	DDR2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.458	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	HGNC	protein_coding	OTTHUMT00000083213.2	G	NM_006182		162746018	+1	no_errors	ENST00000367921	ensembl	human	known	70_37	missense	SNP	1.000	A
DDX60	55601	genome.wustl.edu	37	4	169172224	169172224	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr4:169172224C>G	ENST00000393743.3	-	28	4030	c.3739G>C	c.(3739-3741)Gaa>Caa	p.E1247Q	DDX60_ENST00000505393.1_5'Flank	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1247	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CCTTTTCTTTCAAATTTTACT	0.299																																																	0													104.0	109.0	108.0					4																	169172224		2201	4300	6501	SO:0001583	missense	55601			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.3739G>C	4.37:g.169172224C>G	ENSP00000377344:p.Glu1247Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PK35|Q9NVE3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1247Q	ENST00000393743.3	37	c.3739	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	C	5.173	0.217537	0.09810	.	.	ENSG00000137628	ENST00000393743	T	0.42900	0.96	5.12	-10.2	0.00374	Helicase, C-terminal (2);	2.336760	0.01518	N	0.018257	T	0.17746	0.0426	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10613	-1.0622	10	0.13853	T	0.58	.	3.1731	0.06559	0.3122:0.2372:0.3583:0.0923	.	1247	Q8IY21	DDX60_HUMAN	Q	1247	ENSP00000377344:E1247Q	ENSP00000377344:E1247Q	E	-	1	0	DDX60	169408799	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-4.083000	0.00298	-1.837000	0.01189	0.467000	0.42956	GAA	DDX60	-	smart_Helicase_C,pfscan_Helicase_C		0.299	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	C	NM_017631		169172224	-1	no_errors	ENST00000393743	ensembl	human	known	70_37	missense	SNP	0.000	G
DHX33	56919	genome.wustl.edu	37	17	5359375	5359375	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:5359375G>A	ENST00000225296.3	-	5	1177	c.977C>T	c.(976-978)cCt>cTt	p.P326L	DHX33_ENST00000433302.3_Silent_p.S139S	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	326	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGCGTACAGAGGAAGGACCAG	0.607																																																	0													163.0	120.0	134.0					17																	5359375		2203	4300	6503	SO:0001583	missense	56919			AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.977C>T	17.37:g.5359375G>A	ENSP00000225296:p.Pro326Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P326L	ENST00000225296.3	37	c.977	CCDS11072.1	17	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043386	0.75732	.	.	ENSG00000005100	ENST00000225296	T	0.03212	4.01	5.78	5.78	0.91487	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.23611	0.0571	M	0.91090	3.175	0.80722	D	1	D	0.54207	0.965	P	0.59643	0.861	T	0.01993	-1.1233	10	0.87932	D	0	.	18.9968	0.92817	0.0:0.0:1.0:0.0	.	326	Q9H6R0	DHX33_HUMAN	L	326	ENSP00000225296:P326L	ENSP00000225296:P326L	P	-	2	0	DHX33	5300099	1.000000	0.71417	0.960000	0.40013	0.152000	0.21847	9.769000	0.98969	2.717000	0.92951	0.655000	0.94253	CCT	DHX33	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.607	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX33	HGNC	protein_coding	OTTHUMT00000219826.2	G	NM_020162		5359375	-1	no_errors	ENST00000225296	ensembl	human	known	70_37	missense	SNP	1.000	A
DGKE	8526	genome.wustl.edu	37	17	54926195	54926195	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:54926195G>A	ENST00000284061.3	+	6	1207	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	343	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					AATGGAAGCAGATGGAATTAA	0.398																																																	0													130.0	126.0	127.0					17																	54926195		2203	4300	6503	SO:0001583	missense	8526			U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1027G>A	17.37:g.54926195G>A	ENSP00000284061:p.Asp343Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.D343N	ENST00000284061.3	37	c.1027	CCDS11590.1	17	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900065	0.72754	.	.	ENSG00000153933	ENST00000284061	T	0.25579	1.79	5.59	5.59	0.84812	Diacylglycerol kinase, catalytic domain (3);	0.144263	0.64402	D	0.000009	T	0.26991	0.0661	L	0.41573	1.285	0.80722	D	1	B;B	0.12630	0.006;0.006	B;B	0.25759	0.063;0.063	T	0.03335	-1.1047	10	0.27082	T	0.32	.	19.5907	0.95509	0.0:0.0:1.0:0.0	.	343;343	A1L4Q0;P52429	.;DGKE_HUMAN	N	343	ENSP00000284061:D343N	ENSP00000284061:D343N	D	+	1	0	DGKE	52281194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.019000	0.93662	2.642000	0.89623	0.563000	0.77884	GAT	DGKE	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom		0.398	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKE	HGNC	protein_coding	OTTHUMT00000440601.1	G	NM_003647		54926195	+1	no_errors	ENST00000284061	ensembl	human	known	70_37	missense	SNP	1.000	A
DLGAP1	9229	genome.wustl.edu	37	18	3879204	3879204	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr18:3879204G>A	ENST00000315677.3	-	4	1460	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R289W|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R289W|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R289W	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	289					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TAAACCTCCCGGGCCCGGCTC	0.632																																																	0													53.0	50.0	51.0					18																	3879204		2203	4300	6503	SO:0001583	missense	9229			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.865C>T	18.37:g.3879204G>A	ENSP00000316377:p.Arg289Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	pfam_GKAP	p.R289W	ENST00000315677.3	37	c.865	CCDS11836.1	18	.	.	.	.	.	.	.	.	.	.	G	19.26	3.794013	0.70452	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.37235	1.21;1.21	5.51	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	M	0.78049	2.395	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.67902	-0.5550	10	0.87932	D	0	-19.5296	15.4385	0.75165	0.0:0.0:0.8528:0.1472	.	289;289;289	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	W	289	ENSP00000316377:R289W;ENSP00000445973:R289W	ENSP00000316377:R289W	R	-	1	2	DLGAP1	3869204	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.893000	0.69798	1.296000	0.44742	0.655000	0.94253	CGG	DLGAP1	-	NULL		0.632	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	HGNC	protein_coding	OTTHUMT00000254394.4	G			3879204	-1	no_errors	ENST00000315677	ensembl	human	known	70_37	missense	SNP	1.000	A
DMBT1	1755	genome.wustl.edu	37	10	124402737	124402737	+	Silent	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr10:124402737C>T	ENST00000338354.3	+	53	7171	c.7065C>T	c.(7063-7065)tcC>tcT	p.S2355S	DMBT1_ENST00000368956.2_Silent_p.S1727S|DMBT1_ENST00000368909.3_Silent_p.S2355S|DMBT1_ENST00000359586.6_Silent_p.S1075S|DMBT1_ENST00000330163.4_Silent_p.S1727S|DMBT1_ENST00000344338.3_Silent_p.S2345S|DMBT1_ENST00000368955.3_Silent_p.S2345S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2355	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTTCCCCTCCGTGTACCTGC	0.592																																					Ovarian(182;93 2026 18125 22222 38972)												0													129.0	134.0	132.0					10																	124402737		2070	4215	6285	SO:0001819	synonymous_variant	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.7065C>T	10.37:g.124402737C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt	p.S2484	ENST00000338354.3	37	c.7452		10																																																																																			DMBT1	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.592	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	C	NM_004406		124402737	+1	no_errors	ENST00000368915	ensembl	human	known	70_37	silent	SNP	0.006	T
DNAAF2	55172	genome.wustl.edu	37	14	50094756	50094756	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr14:50094756C>G	ENST00000298292.8	-	2	2061	c.1981G>C	c.(1981-1983)Gat>Cat	p.D661H	RP11-649E7.7_ENST00000556657.1_RNA|DNAAF2_ENST00000406043.3_Intron	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	661					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						ATCTTATTATCAGTAACTTGA	0.343																																																	0													44.0	43.0	44.0					14																	50094756		2200	4298	6498	SO:0001583	missense	55172			AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1981G>C	14.37:g.50094756C>G	ENSP00000298292:p.Asp661His	Somatic		WXS	Illumina HiSeq	Phase_IV	B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	pfam_PIH	p.D661H	ENST00000298292.8	37	c.1981	CCDS9691.2	14	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457413	0.84317	.	.	ENSG00000165506	ENST00000298292	T	0.14893	2.47	5.47	5.47	0.80525	.	0.177421	0.36972	N	0.002302	T	0.38532	0.1044	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.05468	-1.0883	10	0.87932	D	0	.	18.7334	0.91744	0.0:1.0:0.0:0.0	.	661	Q9NVR5	KTU_HUMAN	H	661	ENSP00000298292:D661H	ENSP00000298292:D661H	D	-	1	0	DNAAF2	49164506	1.000000	0.71417	0.989000	0.46669	0.963000	0.63663	4.816000	0.62642	2.725000	0.93324	0.558000	0.71614	GAT	DNAAF2	-	NULL		0.343	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAAF2	HGNC	protein_coding	OTTHUMT00000276813.1	C			50094756	-1	no_errors	ENST00000298292	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAAF2	55172	genome.wustl.edu	37	14	50094828	50094828	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr14:50094828C>G	ENST00000298292.8	-	2	1989	c.1909G>C	c.(1909-1911)Gag>Cag	p.E637Q	RP11-649E7.7_ENST00000556657.1_RNA|DNAAF2_ENST00000406043.3_Intron	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	637					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						CTCAGGACCTCTTCAAGAAAC	0.333																																																	0													54.0	53.0	54.0					14																	50094828		2202	4297	6499	SO:0001583	missense	55172			AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1909G>C	14.37:g.50094828C>G	ENSP00000298292:p.Glu637Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	pfam_PIH	p.E637Q	ENST00000298292.8	37	c.1909	CCDS9691.2	14	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270784	0.59540	.	.	ENSG00000165506	ENST00000298292	T	0.14640	2.49	5.47	3.66	0.41972	.	0.397632	0.21502	N	0.073516	T	0.14184	0.0343	L	0.47716	1.5	0.58432	D	0.999996	D	0.56521	0.976	P	0.46685	0.524	T	0.05971	-1.0853	10	0.30078	T	0.28	.	7.5816	0.27967	0.0:0.7282:0.0:0.2718	.	637	Q9NVR5	KTU_HUMAN	Q	637	ENSP00000298292:E637Q	ENSP00000298292:E637Q	E	-	1	0	DNAAF2	49164578	0.678000	0.27586	0.998000	0.56505	0.990000	0.78478	1.501000	0.35693	0.802000	0.34089	0.558000	0.71614	GAG	DNAAF2	-	NULL		0.333	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAAF2	HGNC	protein_coding	OTTHUMT00000276813.1	C			50094828	-1	no_errors	ENST00000298292	ensembl	human	known	70_37	missense	SNP	0.872	G
DNAH6	1768	genome.wustl.edu	37	2	84913648	84913648	+	Missense_Mutation	SNP	G	G	C	rs543437610		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:84913648G>C	ENST00000237449.6	+	43	7112	c.7104G>C	c.(7102-7104)ttG>ttC	p.L2368F	DNAH6_ENST00000398278.2_Missense_Mutation_p.L2319F|DNAH6_ENST00000389394.3_Missense_Mutation_p.L2368F|DNAH6_ENST00000602588.1_Missense_Mutation_p.L340F			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2368					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AATATTTTTTGAATAAGCCCA	0.259																																																	0													101.0	85.0	90.0					2																	84913648		692	1587	2279	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.7104G>C	2.37:g.84913648G>C	ENSP00000237449:p.Leu2368Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L2368F	ENST00000237449.6	37	c.7104	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	7.215	0.596250	0.13875	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.43688	1.72;0.94;1.72	5.66	0.429	0.16506	.	.	.	.	.	T	0.29976	0.0750	L	0.46614	1.455	0.23023	N	0.998415	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.29640	-1.0005	9	0.48119	T	0.1	.	2.0214	0.03509	0.1502:0.1365:0.4653:0.2479	.	2368;2319	Q9C0G6;Q9C0G6-4	DYH6_HUMAN;.	F	2368;2319;2368	ENSP00000374045:L2368F;ENSP00000381326:L2319F;ENSP00000237449:L2368F	ENSP00000237449:L2368F	L	+	3	2	DNAH6	84767159	0.247000	0.23920	0.389000	0.26208	0.986000	0.74619	0.032000	0.13732	0.109000	0.17891	0.655000	0.94253	TTG	DNAH6	-	NULL		0.259	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	G	NM_001370		84913648	+1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	0.157	C
DNAH7	56171	genome.wustl.edu	37	2	196741270	196741270	+	Missense_Mutation	SNP	T	T	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:196741270T>G	ENST00000312428.6	-	37	6215	c.6115A>C	c.(6115-6117)Atg>Ctg	p.M2039L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2039	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTCATTACCATTCTCTTGCCC	0.413																																																	0													144.0	128.0	133.0					2																	196741270		1861	4093	5954	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6115A>C	2.37:g.196741270T>G	ENSP00000311273:p.Met2039Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.M2039L	ENST00000312428.6	37	c.6115	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	T	15.92	2.976195	0.53720	.	.	ENSG00000118997	ENST00000312428	T	0.21734	1.99	4.89	4.89	0.63831	ATPase, AAA+ type, core (1);	0.042206	0.85682	D	0.000000	T	0.12944	0.0314	N	0.17379	0.485	0.80722	D	1	B	0.19200	0.034	B	0.25759	0.063	T	0.04976	-1.0914	10	0.06625	T	0.88	.	14.6256	0.68618	0.0:0.0:0.0:1.0	.	2039	Q8WXX0	DYH7_HUMAN	L	2039	ENSP00000311273:M2039L	ENSP00000311273:M2039L	M	-	1	0	DNAH7	196449515	1.000000	0.71417	0.988000	0.46212	0.913000	0.54294	3.306000	0.51881	2.187000	0.69744	0.482000	0.46254	ATG	DNAH7	-	smart_AAA+_ATPase		0.413	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	T	NM_018897		196741270	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	missense	SNP	1.000	G
DNM1	1759	genome.wustl.edu	37	9	130984795	130984795	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr9:130984795C>A	ENST00000372923.3	+	8	1140	c.1048C>A	c.(1048-1050)Cag>Aag	p.Q350K	DNM1_ENST00000486160.1_Missense_Mutation_p.Q350K|DNM1_ENST00000393594.3_Missense_Mutation_p.Q350K|DNM1_ENST00000341179.7_Missense_Mutation_p.Q350K|DNM1_ENST00000475805.1_Missense_Mutation_p.Q350K	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	350					endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.Q350E(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CTCAGGAGATCAGATCGACAC	0.607																																					GBM(113;146 1575 2722 28670 29921)												2	Substitution - Missense(2)	lung(2)											91.0	87.0	88.0					9																	130984795		2203	4300	6503	SO:0001583	missense	1759			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1048C>A	9.37:g.130984795C>A	ENSP00000362014:p.Gln350Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin	p.Q350K	ENST00000372923.3	37	c.1048	CCDS6895.1	9	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497415	0.85069	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	6.03	6.03	0.97812	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	T	0.73745	0.3626	N	0.12569	0.235	0.80722	D	1	D;D;D	0.59767	0.985;0.971;0.986	D;P;D	0.73708	0.981;0.79;0.979	T	0.74262	-0.3722	10	0.37606	T	0.19	-0.8561	20.5596	0.99324	0.0:1.0:0.0:0.0	.	350;350;350	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	K	350;350;350;345;350;350	ENSP00000419225:Q350K;ENSP00000345680:Q350K;ENSP00000362014:Q350K;ENSP00000377219:Q350K;ENSP00000420045:Q350K	ENSP00000345680:Q350K	Q	+	1	0	DNM1	130024616	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.999000	0.70665	2.868000	0.98415	0.555000	0.69702	CAG	DNM1	-	pfam_Dynamin_central		0.607	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNM1	HGNC	protein_coding	OTTHUMT00000054367.1	C	NM_004408		130984795	+1	no_errors	ENST00000372923	ensembl	human	known	70_37	missense	SNP	1.000	A
DOCK4	9732	genome.wustl.edu	37	7	111451965	111451965	+	Missense_Mutation	SNP	G	G	A	rs369989375		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr7:111451965G>A	ENST00000437633.1	-	28	3227	c.2971C>T	c.(2971-2973)Cgt>Tgt	p.R991C	DOCK4-AS1_ENST00000452714.1_RNA|DOCK4_ENST00000428084.1_Missense_Mutation_p.R991C	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	991					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AAGTTCTTACGAAGTGCATCT	0.289																																																	0								G	CYS/ARG	1,3419		0,1,1709	38.0	35.0	36.0		2971	4.7	1.0	7		36	0,7690		0,0,3845	no	missense	DOCK4	NM_014705.3	180	0,1,5554	AA,AG,GG		0.0,0.0292,0.0090	probably-damaging	991/1967	111451965	1,11109	1710	3845	5555	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2971C>T	7.37:g.111451965G>A	ENSP00000404179:p.Arg991Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O14584|O94824|Q8NB45	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain	p.R991C	ENST00000437633.1	37	c.2971	CCDS47688.1	7	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635568	0.67130	2.92E-4	0.0	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.24538	1.85;1.85	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.38054	0.1026	L	0.55990	1.75	0.80722	D	1	D;P;D	0.57571	0.966;0.944;0.98	P;P;P	0.51999	0.608;0.489;0.687	T	0.13629	-1.0502	10	0.48119	T	0.1	.	17.6893	0.88265	0.0:0.0:1.0:0.0	.	1027;991;991	Q149N5;Q8N1I0;Q8N1I0-2	.;DOCK4_HUMAN;.	C	979;991;991;979;990	ENSP00000410746:R991C;ENSP00000404179:R991C	ENSP00000345432:R979C	R	-	1	0	DOCK4	111239201	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.754000	0.62191	2.572000	0.86782	0.650000	0.86243	CGT	DOCK4	-	NULL		0.289	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	G	NM_014705		111451965	-1	no_errors	ENST00000428084	ensembl	human	known	70_37	missense	SNP	1.000	A
DUT	1854	genome.wustl.edu	37	15	48623778	48623778	+	Silent	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr15:48623778G>C	ENST00000331200.3	+	1	159	c.66G>C	c.(64-66)gcG>gcC	p.A22A	DUT_ENST00000558813.1_Intron|DUT_ENST00000559540.1_5'Flank|RP11-154J22.1_ENST00000560323.1_RNA|DUT_ENST00000559935.1_Intron|DUT_ENST00000455976.2_5'Flank|DUT_ENST00000559416.1_Intron|RP11-154J22.1_ENST00000559134.1_RNA	NM_001025248.1|NM_001025249.1	NP_001020419.1|NP_001020420.1	P33316	DUT_HUMAN	deoxyuridine triphosphatase	22					DNA replication (GO:0006260)|dUMP biosynthetic process (GO:0006226)|dUTP catabolic process (GO:0046081)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotrimerization (GO:0070207)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of protein heterodimerization activity (GO:0043497)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dUTP diphosphatase activity (GO:0004170)|poly(A) RNA binding (GO:0044822)|pyrimidine deoxyribonucleotide binding (GO:0032556)|receptor inhibitor activity (GO:0030547)			kidney(2)	2		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		TTCGCTCAGCGATGCAAAACG	0.697								Modulation of nucleotide pools																																									0													8.0	9.0	9.0					15																	48623778		2118	4153	6271	SO:0001819	synonymous_variant	1854			M89913	CCDS32231.1, CCDS45255.1, CCDS45256.1	15q21.1	2010-06-24	2007-12-17		ENSG00000128951	ENSG00000128951	3.6.1.23		3078	protein-coding gene	gene with protein product		601266	"""dUTP pyrophosphatase"""			1325640, 9070952	Standard	XM_005254211		Approved	dUTPase	uc001zws.3	P33316		ENST00000331200.3:c.66G>C	15.37:g.48623778G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K650|B4DPR5|O14785|Q16708|Q16860|Q6FHN1|Q6NSA3|Q96Q81	Silent	SNP	pfam_dUTP_pyroPase,tigrfam_dUTP_pyroPase_sf	p.A22	ENST00000331200.3	37	c.66	CCDS32231.1	15																																																																																			DUT	-	NULL		0.697	DUT-001	KNOWN	basic|CCDS	protein_coding	DUT	HGNC	protein_coding	OTTHUMT00000417142.2	G			48623778	+1	no_errors	ENST00000331200	ensembl	human	known	70_37	silent	SNP	0.003	C
EIF2S2	8894	genome.wustl.edu	37	20	32686316	32686316	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr20:32686316C>G	ENST00000374980.2	-	4	642	c.421G>C	c.(421-423)Gag>Cag	p.E141Q		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	141					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						TCATCTTTCTCTAGTATTTCA	0.423																																																	0													129.0	124.0	126.0					20																	32686316		2203	4300	6503	SO:0001583	missense	8894			M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	3266	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 67"""	603908	"""eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"""	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.421G>C	20.37:g.32686316C>G	ENSP00000364119:p.Glu141Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BVU0|Q9UJE4	Missense_Mutation	SNP	pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5	p.E141Q	ENST00000374980.2	37	c.421	CCDS13231.1	20	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351759	0.61183	.	.	ENSG00000125977	ENST00000374980	T	0.49720	0.77	5.81	5.81	0.92471	.	0.227426	0.48767	D	0.000177	T	0.44456	0.1294	L	0.41415	1.275	0.50467	D	0.999875	B;B;B	0.20780	0.042;0.048;0.048	B;B;B	0.22386	0.019;0.039;0.039	T	0.18461	-1.0336	10	0.31617	T	0.26	-40.4263	20.0684	0.97708	0.0:1.0:0.0:0.0	.	141;141;141	B5BU01;Q6IBR8;P20042	.;.;IF2B_HUMAN	Q	141	ENSP00000364119:E141Q	ENSP00000364119:E141Q	E	-	1	0	EIF2S2	32149977	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.372000	0.59530	2.734000	0.93682	0.650000	0.86243	GAG	EIF2S2	-	NULL		0.423	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2S2	HGNC	protein_coding	OTTHUMT00000078765.2	C	NM_003908		32686316	-1	no_errors	ENST00000374980	ensembl	human	known	70_37	missense	SNP	1.000	G
EIF2S2	8894	genome.wustl.edu	37	20	32686325	32686325	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr20:32686325C>A	ENST00000374980.2	-	4	633	c.412G>T	c.(412-414)Gaa>Taa	p.E138*		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	138					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						TCTAGTATTTCATCCTCATCT	0.433																																																	0													131.0	124.0	127.0					20																	32686325		2203	4300	6503	SO:0001587	stop_gained	8894			M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	3266	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 67"""	603908	"""eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"""	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.412G>T	20.37:g.32686325C>A	ENSP00000364119:p.Glu138*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BVU0|Q9UJE4	Nonsense_Mutation	SNP	pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5	p.E138*	ENST00000374980.2	37	c.412	CCDS13231.1	20	.	.	.	.	.	.	.	.	.	.	C	38	6.906683	0.97924	.	.	ENSG00000125977	ENST00000374980	.	.	.	5.81	5.81	0.92471	.	0.116480	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-28.717	20.0684	0.97708	0.0:1.0:0.0:0.0	.	.	.	.	X	138	.	ENSP00000364119:E138X	E	-	1	0	EIF2S2	32149986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.191000	0.72063	2.734000	0.93682	0.650000	0.86243	GAA	EIF2S2	-	NULL		0.433	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2S2	HGNC	protein_coding	OTTHUMT00000078765.2	C	NM_003908		32686325	-1	no_errors	ENST00000374980	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RNGTT	8732	genome.wustl.edu	37	6	89675589	89675589	+	5'Flank	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr6:89675589G>A	ENST00000369485.4	-	0	0				AL079342.1_ENST00000369474.1_Silent_p.L76L|RNGTT_ENST00000369475.3_5'Flank|RNGTT_ENST00000265607.6_5'Flank|RNGTT_ENST00000538899.1_5'Flank	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase						7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		cttttgacctgagcactggga	0.582																																																	0																																										SO:0001631	upstream_gene_variant	0			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190		6.37:g.89675589G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Silent	SNP	NULL	p.L76	ENST00000369485.4	37	c.228	CCDS5017.1	6																																																																																			AL079342.1	-	NULL		0.582	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000203863	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000041469.1	G			89675589	+1	no_errors	ENST00000369474	ensembl	human	known	70_37	silent	SNP	0.035	A
KRT17P4	339186	genome.wustl.edu	37	17	16754841	16754841	+	RNA	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:16754841G>A	ENST00000578037.1	-	0	0																											GCAGTGAGCTGAGCCTCAAGG	0.413																																																	0																																												0																															17.37:g.16754841G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000578037.1	37	NULL		17																																																																																			AC022596.2	-	-		0.413	AC022596.2-005	KNOWN	basic	processed_transcript	ENSG00000205312	Clone_based_vega_gene	pseudogene	OTTHUMT00000444295.1	G			16754841	-1	no_errors	ENST00000579363	ensembl	human	putative	70_37	rna	SNP	0.016	A
KRT17P5	339240	genome.wustl.edu	37	17	18326186	18326186	+	RNA	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:18326186G>C	ENST00000444070.1	+	0	1592																											TGGGAGGCGAGGGCTCAGGAA	0.587																																																	0																																												0																															17.37:g.18326186G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000444070.1	37	NULL		17																																																																																			AL353997.3	-	-		0.587	AL353997.3-002	KNOWN	basic	processed_transcript	ENSG00000205266	Clone_based_vega_gene	processed_transcript	OTTHUMT00000131451.2	G			18326186	+1	no_errors	ENST00000444070	ensembl	human	known	70_37	rna	SNP	0.003	C
ANKRD19P	138649	genome.wustl.edu	37	9	95647822	95647822	+	RNA	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr9:95647822G>C	ENST00000446878.1	+	0	1101				ANKRD19P_ENST00000473204.1_RNA																							GCTCAGCTCTGATGGCCAGGA	0.473																																																	0																																												0																															9.37:g.95647822G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000446878.1	37	NULL		9																																																																																			RP11-526D8.7	-	-		0.473	RP11-526D8.7-006	PUTATIVE	basic	processed_transcript	ENSG00000226668	Clone_based_vega_gene	pseudogene	OTTHUMT00000316907.1	G			95647822	+1	no_errors	ENST00000446878	ensembl	human	putative	70_37	rna	SNP	0.075	C
LINC01098	285501	genome.wustl.edu	37	4	178897087	178897087	+	Missense_Mutation	SNP	C	C	G	rs377551805	byFrequency	TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr4:178897087C>G	ENST00000507870.1	+	5	752	c.290C>G	c.(289-291)tCt>tGt	p.S97C																	lung(8)|prostate(1)	9						TATATTTTTTCTAAATGCCAG	0.378																																																	0													208.0	211.0	210.0					4																	178897087		1850	4094	5944	SO:0001583	missense	0																														ENST00000507870.1:c.290C>G	4.37:g.178897087C>G	ENSP00000421352:p.Ser97Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S97C	ENST00000507870.1	37	c.290		4	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569573	0.28003	.	.	ENSG00000231171	ENST00000507870	T	0.39056	1.1	3.31	-3.28	0.05033	.	.	.	.	.	T	0.24236	0.0587	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25257	-1.0137	5	.	.	.	.	3.5516	0.07848	0.4673:0.2281:0.0:0.3045	.	.	.	.	C	97	ENSP00000421352:S97C	.	S	+	2	0	RP11-389E17.1	179134081	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.604000	0.02076	-0.914000	0.03827	-0.923000	0.02734	TCT	RP11-389E17.1	-	NULL		0.378	RP11-389E17.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ENSG00000231171	Clone_based_vega_gene	protein_coding	OTTHUMT00000361922.1	C			178897087	+1	no_errors	ENST00000507870	ensembl	human	putative	70_37	missense	SNP	0.000	G
RNU1-6P	106480152	genome.wustl.edu	37	1	16862024	16862024	+	lincRNA	SNP	G	G	A	rs6698470		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:16862024G>A	ENST00000516290.1	-	0	0																											GCTCCGCGAGGGACACCGAGG	0.617																																																	0																																												0																															1.37:g.16862024G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000516290.1	37	NULL		1																																																																																			RP5-875O13.1	-	-		0.617	U1.2-201	KNOWN	basic	snRNA	ENSG00000233421	Clone_based_vega_gene	lincRNA		G			16862024	-1	no_errors	ENST00000415386	ensembl	human	known	70_37	rna	SNP	0.001	A
ACER3	55331	genome.wustl.edu	37	11	76669957	76669957	+	Intron	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:76669957C>G	ENST00000532485.1	+	3	318				ACER3_ENST00000530182.1_Intron|CTD-2547H18.1_ENST00000530190.1_RNA|ACER3_ENST00000538157.1_Intron|ACER3_ENST00000526597.1_Intron|ACER3_ENST00000533873.1_Intron	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN	alkaline ceramidase 3						ceramide metabolic process (GO:0006672)|phytosphingosine biosynthetic process (GO:0071602)|positive regulation of cell proliferation (GO:0008284)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of Golgi membrane (GO:0030173)	phytoceramidase activity (GO:0070774)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						GTCTTATTGTCTTCTCAGGTC	0.353																																																	0													98.0	76.0	83.0					11																	76669957		692	1591	2283	SO:0001627	intron_variant	0			AF214454	CCDS8247.1, CCDS73352.1	11q13.5	2013-01-25	2008-12-19	2008-12-19	ENSG00000078124	ENSG00000078124	3.5.1.23	"""Alkaline ceramidase"""	16066	protein-coding gene	gene with protein product	"""alkaline phytoceramidase"""		"""phytoceramidase, alkaline"""	PHCA		11356846, 18619555	Standard	XM_005274090		Approved	FLJ11238, APHC	uc009yum.1	Q9NUN7	OTTHUMG00000165225	ENST00000532485.1:c.215-66C>G	11.37:g.76669957C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC99	RNA	SNP	-	NULL	ENST00000532485.1	37	NULL	CCDS8247.1	11																																																																																			CTD-2547H18.1	-	-		0.353	ACER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254988	Clone_based_vega_gene	protein_coding	OTTHUMT00000382770.2	C	NM_018367		76669957	-1	no_errors	ENST00000530190	ensembl	human	known	70_37	rna	SNP	0.002	G
AC015849.16	0	genome.wustl.edu	37	17	34233513	34233513	+	lincRNA	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:34233513G>A	ENST00000587132.1	-	0	4514																											AGGGAGCTCTGAAGGCTGAGC	0.507																																																	0																																												0																															17.37:g.34233513G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000587132.1	37	NULL		17																																																																																			AC015849.16	-	-		0.507	AC015849.16-001	KNOWN	basic	lincRNA	ENSG00000266999	Clone_based_vega_gene	lincRNA	OTTHUMT00000449325.1	G			34233513	-1	no_errors	ENST00000587132	ensembl	human	known	70_37	rna	SNP	0.000	A
AC015849.16	0	genome.wustl.edu	37	17	34236597	34236597	+	lincRNA	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:34236597G>A	ENST00000587132.1	-	0	1430																											GTTGAAGTGTGACACTGGCCA	0.483																																																	0																																												0																															17.37:g.34236597G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000587132.1	37	NULL		17																																																																																			AC015849.16	-	-		0.483	AC015849.16-001	KNOWN	basic	lincRNA	ENSG00000266999	Clone_based_vega_gene	lincRNA	OTTHUMT00000449325.1	G			34236597	-1	no_errors	ENST00000587132	ensembl	human	known	70_37	rna	SNP	0.000	A
EP400	57634	genome.wustl.edu	37	12	132498441	132498441	+	Silent	SNP	C	C	T	rs368953719		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:132498441C>T	ENST00000333577.4	+	20	4123	c.4014C>T	c.(4012-4014)gaC>gaT	p.D1338D	EP400_ENST00000389562.2_Silent_p.D1301D|EP400_ENST00000389561.2_Silent_p.D1302D|EP400_ENST00000332482.4_Silent_p.D1265D|EP400_ENST00000330386.6_Silent_p.D1302D			Q96L91	EP400_HUMAN	E1A binding protein p400	1338	Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TATACGAGGACGTTATCCTGC	0.493																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	102.0	96.0	98.0		3906	-9.1	0.3	12		98	0,8600		0,0,4300	no	coding-synonymous	EP400	NM_015409.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1302/3124	132498441	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4014C>T	12.37:g.132498441C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D1338	ENST00000333577.4	37	c.4014		12																																																																																			EP400	-	pfam_SNF2_N		0.493	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		C	NM_015409		132498441	+1	no_errors	ENST00000333577	ensembl	human	known	70_37	silent	SNP	0.925	T
EPHA5	2044	genome.wustl.edu	37	4	66201813	66201813	+	Silent	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr4:66201813G>A	ENST00000273854.3	-	16	3289	c.2689C>T	c.(2689-2691)Ctg>Ttg	p.L897L	EPHA5_ENST00000432638.2_Silent_p.L734L|EPHA5_ENST00000511294.1_Silent_p.L898L|EPHA5_ENST00000354839.4_Silent_p.L875L	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	897	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGGCTTGGCAGACGATAGCCT	0.433										TSP Lung(17;0.13)																																							0													97.0	82.0	87.0					4																	66201813		2203	4299	6502	SO:0001819	synonymous_variant	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2689C>T	4.37:g.66201813G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z3F2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L897	ENST00000273854.3	37	c.2689	CCDS3513.1	4																																																																																			EPHA5	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom		0.433	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	G	NM_004439		66201813	-1	no_errors	ENST00000273854	ensembl	human	known	70_37	silent	SNP	1.000	A
EPHB6	2051	genome.wustl.edu	37	7	142566338	142566338	+	Silent	SNP	C	C	T	rs117493419	byFrequency	TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr7:142566338C>T	ENST00000392957.2	+	15	2914	c.2127C>T	c.(2125-2127)gcC>gcT	p.A709A	EPHB6_ENST00000411471.2_Silent_p.A432A|EPHB6_ENST00000442129.1_Silent_p.A709A	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	709	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCGGGGGCGCCGAAAGCCTGC	0.682													C|||	2	0.000399361	0.0	0.0	5008	,	,		16287	0.001		0.001	False		,,,				2504	0.0																0								C		0,4406		0,0,2203	22.0	24.0	23.0		2127	-9.7	0.2	7	dbSNP_133	23	2,8594		0,2,4296	no	coding-synonymous	EPHB6	NM_004445.3		0,2,6499	TT,TC,CC		0.0233,0.0,0.0154		709/1022	142566338	2,13000	2203	4298	6501	SO:0001819	synonymous_variant	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2127C>T	7.37:g.142566338C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A709	ENST00000392957.2	37	c.2127	CCDS5873.2	7																																																																																			EPHB6	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom		0.682	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1	C			142566338	+1	no_errors	ENST00000392957	ensembl	human	known	70_37	silent	SNP	0.002	T
ERC1	23085	genome.wustl.edu	37	12	1192462	1192462	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:1192462C>G	ENST00000397203.2	+	3	1208	c.802C>G	c.(802-804)Cag>Gag	p.Q268E	ERC1_ENST00000546231.2_Missense_Mutation_p.Q268E|ERC1_ENST00000589028.1_Missense_Mutation_p.Q268E|ERC1_ENST00000543086.3_Missense_Mutation_p.Q268E|ERC1_ENST00000355446.5_Missense_Mutation_p.Q268E|ERC1_ENST00000360905.4_Missense_Mutation_p.Q268E			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	268					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGAGAACTTTCAGAGGCTTCA	0.502																																																	0													75.0	69.0	71.0					12																	1192462		2203	4300	6503	SO:0001583	missense	23085			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.802C>G	12.37:g.1192462C>G	ENSP00000380386:p.Gln268Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin	p.Q268E	ENST00000397203.2	37	c.802	CCDS8508.1	12	.	.	.	.	.	.	.	.	.	.	C	5.975	0.363890	0.11296	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.62	5.62	0.85841	.	0.061231	0.64402	D	0.000002	T	0.30417	0.0764	N	0.19112	0.55	0.38851	D	0.95627	B;B;B;B	0.24368	0.035;0.022;0.102;0.095	B;B;B;B	0.29440	0.026;0.014;0.049;0.102	T	0.13953	-1.0490	10	0.02654	T	1	-23.63	20.0247	0.97519	0.0:1.0:0.0:0.0	.	44;268;268;268	F5H327;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;RB6I2_HUMAN	E	268;268;268;268;268;268;268;268;268;268;44	ENSP00000340054:Q268E;ENSP00000380386:Q268E;ENSP00000438546:Q268E;ENSP00000445336:Q268E;ENSP00000442739:Q268E;ENSP00000347621:Q268E;ENSP00000354158:Q268E;ENSP00000410064:Q268E	ENSP00000340054:Q268E	Q	+	1	0	ERC1	1062723	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.468000	0.60162	2.804000	0.96469	0.655000	0.94253	CAG	ERC1	-	pfam_CAZ_cplx_RIM-bd_prot		0.502	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC1	HGNC	protein_coding	OTTHUMT00000398380.2	C	NM_015064		1192462	+1	no_errors	ENST00000360905	ensembl	human	known	70_37	missense	SNP	1.000	G
ESYT3	83850	genome.wustl.edu	37	3	138191231	138191231	+	Silent	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:138191231G>C	ENST00000389567.4	+	18	1953	c.1767G>C	c.(1765-1767)ctG>ctC	p.L589L		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	589					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						AACGAGAGCTGGGGAGCCCAT	0.542																																																	0													102.0	107.0	105.0					3																	138191231		1985	4166	6151	SO:0001819	synonymous_variant	83850			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1767G>C	3.37:g.138191231G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom	p.L589	ENST00000389567.4	37	c.1767	CCDS3101.2	3																																																																																			ESYT3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.542	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT3	HGNC	protein_coding	OTTHUMT00000303993.1	G	NM_031913		138191231	+1	no_errors	ENST00000389567	ensembl	human	known	70_37	silent	SNP	1.000	C
EXOC3L2	90332	genome.wustl.edu	37	19	45716518	45716518	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr19:45716518C>T	ENST00000252482.3	-	9	1066	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	EXOC3L2_ENST00000413988.1_Missense_Mutation_p.E347K|AC006126.3_ENST00000591569.1_Intron			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	347					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GCTCCCTCCTCAGAGAGTTCC	0.672																																																	0													39.0	40.0	40.0					19																	45716518		2203	4300	6503	SO:0001583	missense	90332			AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.1039G>A	19.37:g.45716518C>T	ENSP00000252482:p.Glu347Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N9W2|Q96GV2	Missense_Mutation	SNP	pfam_Sec6,superfamily_Tet_transcr_reg_TetR-rel_C	p.E347K	ENST00000252482.3	37	c.1039	CCDS12657.1	19	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033971	0.54896	.	.	ENSG00000130201	ENST00000252482;ENST00000413988	T;T	0.06371	3.31;3.31	4.53	2.32	0.28847	.	0.215266	0.28146	N	0.016421	T	0.05777	0.0151	L	0.57536	1.79	0.09310	N	1	P	0.43231	0.801	B	0.39971	0.315	T	0.22034	-1.0228	10	0.07990	T	0.79	.	5.4297	0.16446	0.1976:0.6962:0.0:0.1062	.	347	Q2M3D2	EX3L2_HUMAN	K	347	ENSP00000252482:E347K;ENSP00000400713:E347K	ENSP00000252482:E347K	E	-	1	0	EXOC3L2	50408358	0.011000	0.17503	0.005000	0.12908	0.839000	0.47603	1.533000	0.36040	0.330000	0.23485	0.455000	0.32223	GAG	EXOC3L2	-	pfam_Sec6		0.672	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L2	HGNC	protein_coding	OTTHUMT00000338073.1	C	NM_138568		45716518	-1	no_errors	ENST00000252482	ensembl	human	known	70_37	missense	SNP	0.001	T
FABP5P3	220832	genome.wustl.edu	37	7	152139910	152139910	+	RNA	SNP	G	G	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr7:152139910G>T	ENST00000477993.1	+	0	665					NR_002935.1		A8MUU1	FB5L3_HUMAN	fatty acid binding protein 5 pseudogene 3								lipid binding (GO:0008289)|transporter activity (GO:0005215)										TGGTGCATTGGTTCAGCATCA	0.448																																																	0																																												220832					7q36.1	2010-10-12	2010-10-12	2010-10-12	ENSG00000241735	ENSG00000241735			22573	pseudogene	pseudogene			"""fatty acid binding protein 5-like 3"", ""fatty acid binding protein 5-like 3 (pseudogene)"""	FABP5L3			Standard	NR_002935		Approved	TCAG_1781704	uc003wlb.3	A8MUU1	OTTHUMG00000157257		7.37:g.152139910G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000477993.1	37	NULL		7																																																																																			FABP5P3	-	-		0.448	FABP5P3-001	KNOWN	basic	processed_transcript	FABP5P3	HGNC	pseudogene	OTTHUMT00000348208.1	G	NR_002935		152139910	+1	no_errors	ENST00000477993	ensembl	human	known	70_37	rna	SNP	0.998	T
FAM101A	144347	genome.wustl.edu	37	12	124798824	124798824	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:124798824G>T	ENST00000389727.3	+	3	404	c.404G>T	c.(403-405)aGc>aTc	p.S135I	FAM101A_ENST00000338359.4_Missense_Mutation_p.S54I|FAM101A_ENST00000546355.1_Missense_Mutation_p.S54I|FAM101A_ENST00000324038.3_Missense_Mutation_p.S54I			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	135										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		ACGGCCTACAGCGAGACCATC	0.647																																																	0													100.0	87.0	92.0					12																	124798824		2203	4300	6503	SO:0001583	missense	144347				CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.404G>T	12.37:g.124798824G>T	ENSP00000374377:p.Ser135Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A5D8T5	Missense_Mutation	SNP	NULL	p.S135I	ENST00000389727.3	37	c.404		12	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648887	0.67358	.	.	ENSG00000178882	ENST00000324038;ENST00000541200;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.80270	0.4592	M	0.80746	2.51	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	D	0.84040	0.0364	9	0.87932	D	0	-0.2441	17.6136	0.88061	0.0:0.0:1.0:0.0	.	135	Q6ZTI6	F101A_HUMAN	I	54;54;135;54;54	.	ENSP00000315626:S54I	S	+	2	0	FAM101A	123364777	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	9.309000	0.96252	2.148000	0.66965	0.555000	0.69702	AGC	FAM101A	-	NULL		0.647	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	FAM101A	HGNC	protein_coding		G	NM_181709		124798824	+1	no_errors	ENST00000389727	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM13A	10144	genome.wustl.edu	37	4	89772307	89772307	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr4:89772307T>C	ENST00000264344.5	-	7	1078	c.871A>G	c.(871-873)Att>Gtt	p.I291V	FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	291					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TGGGCCTGAATAGATCCCTCA	0.418																																																	0													98.0	104.0	102.0					4																	89772307		2203	4300	6503	SO:0001583	missense	10144			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.871A>G	4.37:g.89772307T>C	ENSP00000264344:p.Ile291Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.I291V	ENST00000264344.5	37	c.871	CCDS34029.1	4	.	.	.	.	.	.	.	.	.	.	T	0.461	-0.888966	0.02511	.	.	ENSG00000138640	ENST00000264344	T	0.18502	2.21	4.42	-2.23	0.06930	.	0.526403	0.18060	N	0.152998	T	0.07728	0.0194	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33266	-0.9875	10	0.13470	T	0.59	.	0.8368	0.01141	0.157:0.2644:0.1624:0.4162	.	291	O94988	FA13A_HUMAN	V	291	ENSP00000264344:I291V	ENSP00000264344:I291V	I	-	1	0	FAM13A	89991330	0.015000	0.18098	0.000000	0.03702	0.025000	0.11179	-0.409000	0.07160	-0.356000	0.08187	-1.132000	0.01976	ATT	FAM13A	-	NULL		0.418	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1	T			89772307	-1	no_errors	ENST00000264344	ensembl	human	known	70_37	missense	SNP	0.000	C
FAM47C	442444	genome.wustl.edu	37	X	37027642	37027642	+	Missense_Mutation	SNP	G	G	A	rs376992053		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:37027642G>A	ENST00000358047.3	+	1	1211	c.1159G>A	c.(1159-1161)Gta>Ata	p.V387I		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	387										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CAAGACTCGCGTACCTCCTCT	0.622																																																	0								G	ILE/VAL	1,3832		0,1,1630,571	60.0	60.0	60.0		1159	-1.1	0.0	X		60	0,6728		0,0,2428,1872	no	missense	FAM47C	NM_001013736.2	29	0,1,4058,2443	AA,AG,GG,G		0.0,0.0261,0.0095	possibly-damaging	387/1036	37027642	1,10560	2202	4300	6502	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1159G>A	X.37:g.37027642G>A	ENSP00000367913:p.Val387Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZU46	Missense_Mutation	SNP	NULL	p.V387I	ENST00000358047.3	37	c.1159	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	g	11.93	1.787000	0.31593	2.61E-4	0.0	ENSG00000198173	ENST00000358047	T	0.18502	2.21	0.53	-1.06	0.10002	.	.	.	.	.	T	0.16214	0.0390	M	0.74881	2.28	0.09310	N	1	P	0.50710	0.938	B	0.41691	0.364	T	0.21895	-1.0232	9	0.20519	T	0.43	.	4.8125	0.13351	1.0E-4:0.0:0.65:0.3499	.	387	Q5HY64	FA47C_HUMAN	I	387	ENSP00000367913:V387I	ENSP00000367913:V387I	V	+	1	0	FAM47C	36937563	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.843000	0.27640	-0.651000	0.05415	0.183000	0.17082	GTA	FAM47C	-	NULL		0.622	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	G	NM_001013736		37027642	+1	no_errors	ENST00000358047	ensembl	human	known	70_37	missense	SNP	0.001	A
FBXL16	146330	genome.wustl.edu	37	16	745768	745768	+	Silent	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr16:745768G>A	ENST00000397621.1	-	3	1120	c.789C>T	c.(787-789)atC>atT	p.I263I	FBXL16_ENST00000324361.5_Silent_p.I263I|FBXL16_ENST00000562585.1_5'Flank|FBXL16_ENST00000562563.1_Silent_p.I51I	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	263										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GCAGCTGCGAGATGGCCGCGA	0.692																																																	0													37.0	35.0	36.0					16																	745768		2199	4295	6494	SO:0001819	synonymous_variant	146330			BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"""F-boxes / Leucine-rich repeats"""	14150	protein-coding gene	gene with protein product		609082	"""chromosome 16 open reading frame 22"""	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.789C>T	16.37:g.745768G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Silent	SNP	superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp	p.I263	ENST00000397621.1	37	c.789	CCDS10421.1	16																																																																																			FBXL16	-	smart_Leu-rich_rpt_Cys-con_subtyp		0.692	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL16	HGNC	protein_coding	OTTHUMT00000206851.2	G	NM_153350		745768	-1	no_errors	ENST00000324361	ensembl	human	known	70_37	silent	SNP	1.000	A
FBXW10	10517	genome.wustl.edu	37	17	18647791	18647791	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:18647791G>C	ENST00000395665.4	+	1	455	c.234G>C	c.(232-234)caG>caC	p.Q78H	FBXW10_ENST00000395667.1_Missense_Mutation_p.Q78H|FBXW10_ENST00000308799.4_Missense_Mutation_p.Q78H|FBXW10_ENST00000301938.4_Missense_Mutation_p.Q78H			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	78										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						ATATCCTTCAGACCACACAGG	0.403																																																	0													73.0	78.0	76.0					17																	18647791		2201	4296	6497	SO:0001583	missense	10517			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.234G>C	17.37:g.18647791G>C	ENSP00000379025:p.Gln78His	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q78H	ENST00000395665.4	37	c.234	CCDS11199.3	17	.	.	.	.	.	.	.	.	.	.	g	4.583	0.108352	0.08780	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	3.31	1.12	0.20585	.	0.558259	0.16528	U	0.210488	T	0.29524	0.0736	L	0.40543	1.245	0.09310	N	1	P;D;P;P	0.57571	0.95;0.98;0.917;0.899	P;P;P;P	0.56700	0.735;0.804;0.548;0.568	T	0.03750	-1.1007	10	0.54805	T	0.06	.	7.1091	0.25380	0.0:0.1833:0.6305:0.1862	.	78;78;78;78	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	H	78	ENSP00000379026:Q78H;ENSP00000310382:Q78H;ENSP00000306937:Q78H;ENSP00000379025:Q78H	ENSP00000306937:Q78H	Q	+	3	2	FBXW10	18588516	0.985000	0.35326	0.678000	0.29963	0.916000	0.54674	2.144000	0.42197	1.667000	0.50832	0.405000	0.27470	CAG	FBXW10	-	NULL		0.403	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	FBXW10	HGNC	protein_coding	OTTHUMT00000313531.2	G	NM_031456		18647791	+1	no_errors	ENST00000308799	ensembl	human	known	70_37	missense	SNP	0.006	C
FCAMR	83953	genome.wustl.edu	37	1	207133999	207133999	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:207133999C>G	ENST00000324852.4	-	6	1696	c.1222G>C	c.(1222-1224)Gaa>Caa	p.E408Q	FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000450945.2_Intron|FCAMR_ENST00000400962.3_Intron	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	363					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						GGAGTTGTTTCTCCAATGGAA	0.537																																					Ovarian(199;1883 2142 16966 44409 45154)												0													107.0	87.0	93.0					1																	207133999		692	1591	2283	SO:0001583	missense	83953			AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.1222G>C	1.37:g.207133999C>G	ENSP00000316491:p.Glu408Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.E408Q	ENST00000324852.4	37	c.1222	CCDS53468.1	1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672042	0.47781	.	.	ENSG00000162897	ENST00000324852;ENST00000367087	T	0.07216	3.21	5.51	3.63	0.41609	.	1.104100	0.06867	N	0.800140	T	0.12433	0.0302	L	0.40543	1.245	0.18873	N	0.999988	D;P	0.54601	0.967;0.48	P;B	0.49799	0.622;0.079	T	0.27706	-1.0066	10	0.36615	T	0.2	-1.4374	7.4784	0.27390	0.1643:0.751:0.0:0.0848	.	383;363	D2KTA8;Q8WWV6	.;FCAMR_HUMAN	Q	408;384	ENSP00000316491:E408Q	ENSP00000316491:E408Q	E	-	1	0	FCAMR	205200622	0.001000	0.12720	0.102000	0.21198	0.016000	0.09150	0.524000	0.22940	0.793000	0.33875	0.655000	0.94253	GAA	FCAMR	-	NULL		0.537	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	FCAMR	HGNC	protein_coding	OTTHUMT00000088969.2	C	NM_032029		207133999	-1	no_errors	ENST00000324852	ensembl	human	novel	70_37	missense	SNP	0.011	G
FES	2242	genome.wustl.edu	37	15	91433650	91433650	+	Missense_Mutation	SNP	G	G	A	rs575070040		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr15:91433650G>A	ENST00000328850.3	+	10	1398	c.1256G>A	c.(1255-1257)gGa>gAa	p.G419E	FES_ENST00000448367.1_3'UTR|FES_ENST00000394300.3_Missense_Mutation_p.G361E|FES_ENST00000450438.2_Missense_Mutation_p.G361E|FES_ENST00000394302.1_Missense_Mutation_p.G361E|FES_ENST00000444422.2_Missense_Mutation_p.G419E|FES_ENST00000414248.2_Missense_Mutation_p.G361E	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	419					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CGAGAGGGGGGAAGGACACCC	0.652													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13751	0.0		0.0	False		,,,				2504	0.0																0													49.0	46.0	47.0					15																	91433650		2198	4298	6496	SO:0001583	missense	2242			X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1256G>A	15.37:g.91433650G>A	ENSP00000331504:p.Gly419Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom	p.G419E	ENST00000328850.3	37	c.1256	CCDS10365.1	15	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832499	0.71258	.	.	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	T;T;T;T;T;T	0.74209	-0.71;-0.66;-0.82;-0.64;-0.71;-0.66	5.04	5.04	0.67666	.	0.197800	0.41605	D	0.000857	T	0.76557	0.4004	L	0.34521	1.04	0.21579	N	0.999631	P;D;D;B;D;P	0.71674	0.937;0.995;0.991;0.051;0.998;0.937	P;P;P;B;D;P	0.69142	0.587;0.896;0.727;0.027;0.962;0.482	T	0.65483	-0.6157	10	0.14656	T	0.56	-17.3702	14.2244	0.65848	0.0:0.1928:0.8072:0.0	.	401;361;361;361;419;419	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	E	419;361;361;419;361;361	ENSP00000331504:G419E;ENSP00000414629:G361E;ENSP00000377839:G361E;ENSP00000400868:G419E;ENSP00000377837:G361E;ENSP00000409915:G361E	ENSP00000331504:G419E	G	+	2	0	FES	89234654	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	2.411000	0.44600	2.624000	0.88883	0.650000	0.86243	GGA	FES	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr		0.652	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FES	HGNC	protein_coding	OTTHUMT00000313497.1	G	NM_002005		91433650	+1	no_errors	ENST00000328850	ensembl	human	known	70_37	missense	SNP	1.000	A
FMNL1	752	genome.wustl.edu	37	17	43314692	43314692	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:43314692G>C	ENST00000331495.3	+	8	1104	c.768G>C	c.(766-768)gaG>gaC	p.E256D	FMNL1_ENST00000328118.3_Missense_Mutation_p.E256D|CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000592006.1_3'UTR|CTD-2020K17.3_ENST00000587534.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	256	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GTGTCAATGAGATTGCTCTGA	0.552																																					GBM(164;1247 1997 8702 11086 51972)												0													127.0	114.0	118.0					17																	43314692		2203	4300	6503	SO:0001583	missense	752			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.768G>C	17.37:g.43314692G>C	ENSP00000329219:p.Glu256Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.E256D	ENST00000331495.3	37	c.768	CCDS11497.1	17	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117815	0.37339	.	.	ENSG00000184922	ENST00000328118;ENST00000331495	D;D	0.89196	-2.48;-2.48	3.91	3.91	0.45181	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.177647	0.48286	D	0.000183	D	0.92061	0.7484	M	0.80028	2.48	0.49299	D	0.999773	D	0.71674	0.998	D	0.65573	0.936	D	0.88980	0.3407	10	0.12766	T	0.61	.	9.86	0.41109	0.0959:0.0:0.9041:0.0	.	256	O95466	FMNL_HUMAN	D	256	ENSP00000327442:E256D;ENSP00000329219:E256D	ENSP00000327442:E256D	E	+	3	2	FMNL1	40670475	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.441000	0.35035	2.468000	0.83385	0.462000	0.41574	GAG	FMNL1	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold		0.552	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1	G	NM_005892		43314692	+1	no_errors	ENST00000328118	ensembl	human	known	70_37	missense	SNP	1.000	C
FMNL1	752	genome.wustl.edu	37	17	43314951	43314951	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:43314951G>C	ENST00000331495.3	+	9	1175	c.839G>C	c.(838-840)tGc>tCc	p.C280S	FMNL1_ENST00000328118.3_Missense_Mutation_p.C280S|CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000592006.1_3'UTR|CTD-2020K17.3_ENST00000587534.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	280	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCGGCCGTGTGCTTGGTGCGG	0.592																																					GBM(164;1247 1997 8702 11086 51972)												0													137.0	131.0	133.0					17																	43314951		2203	4300	6503	SO:0001583	missense	752			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.839G>C	17.37:g.43314951G>C	ENSP00000329219:p.Cys280Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.C280S	ENST00000331495.3	37	c.839	CCDS11497.1	17	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063532	0.55432	.	.	ENSG00000184922	ENST00000328118;ENST00000331495	D;D	0.92752	-3.1;-3.1	3.93	2.94	0.34122	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.143817	0.64402	D	0.000007	D	0.95579	0.8563	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95919	0.8929	10	0.87932	D	0	.	13.6105	0.62076	0.0:0.1571:0.8429:0.0	.	280	O95466	FMNL_HUMAN	S	280	ENSP00000327442:C280S;ENSP00000329219:C280S	ENSP00000327442:C280S	C	+	2	0	FMNL1	40670734	1.000000	0.71417	0.999000	0.59377	0.905000	0.53344	9.657000	0.98554	1.218000	0.43458	0.462000	0.41574	TGC	FMNL1	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold		0.592	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1	G	NM_005892		43314951	+1	no_errors	ENST00000328118	ensembl	human	known	70_37	missense	SNP	1.000	C
FMNL1	752	genome.wustl.edu	37	17	43322670	43322670	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:43322670G>C	ENST00000331495.3	+	22	3115	c.2779G>C	c.(2779-2781)Gag>Cag	p.E927Q	MAP3K14-AS1_ENST00000585346.1_RNA|CTD-2020K17.4_ENST00000591361.1_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.E927Q|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|CTD-2020K17.4_ENST00000589518.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.E505Q|CTD-2020K17.4_ENST00000420431.2_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	927	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCGAGGCCTAGAGTTGACACA	0.617																																					GBM(164;1247 1997 8702 11086 51972)												0													103.0	98.0	99.0					17																	43322670		2203	4300	6503	SO:0001583	missense	752			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2779G>C	17.37:g.43322670G>C	ENSP00000329219:p.Glu927Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.E927Q	ENST00000331495.3	37	c.2779	CCDS11497.1	17	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451410	0.84209	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.17854	2.25;2.25	4.18	4.18	0.49190	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	M	0.66378	2.025	0.80722	D	1	D	0.55385	0.971	P	0.62089	0.898	T	0.05370	-1.0889	10	0.20519	T	0.43	.	15.5655	0.76287	0.0:0.0:1.0:0.0	.	927	O95466	FMNL_HUMAN	Q	927;927;582	ENSP00000327442:E927Q;ENSP00000329219:E927Q	ENSP00000327442:E927Q	E	+	1	0	FMNL1	40678453	1.000000	0.71417	0.989000	0.46669	0.624000	0.37722	9.546000	0.98097	2.330000	0.79161	0.289000	0.19496	GAG	FMNL1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.617	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1	G	NM_005892		43322670	+1	no_errors	ENST00000328118	ensembl	human	known	70_37	missense	SNP	1.000	C
FNBP1	23048	genome.wustl.edu	37	9	132658209	132658209	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr9:132658209C>T	ENST00000446176.2	-	16	1940	c.1754G>A	c.(1753-1755)gGc>gAc	p.G585D	FNBP1_ENST00000420781.1_Missense_Mutation_p.G576D|FNBP1_ENST00000355681.3_Missense_Mutation_p.G556D|FNBP1_ENST00000443566.2_Missense_Mutation_p.G213D	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	585	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and DNM3.|Interaction with DNM2 and WASL.|Interaction with FASLG.|Interaction with PDE6G. {ECO:0000250}.|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CCAGCCATCGCCTTTGTCTTC	0.423			T	MLL	AML																																			Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	0													114.0	107.0	109.0					9																	132658209		1927	4133	6060	SO:0001583	missense	23048			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.1754G>A	9.37:g.132658209C>T	ENSP00000413625:p.Gly585Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.G585D	ENST00000446176.2	37	c.1754	CCDS48040.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.885338|4.885338	0.91814|0.91814	.|.	.|.	ENSG00000187239|ENSG00000187239	ENST00000449089|ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000443566;ENST00000355681	.|T;T;T;T	.|0.44083	.|0.93;0.93;0.93;0.93	5.11|5.11	5.11|5.11	0.69529|0.69529	.|Src homology-3 domain (4);	.|0.098573	.|0.64402	.|D	.|0.000001	T|T	0.62624|0.62624	0.2443|0.2443	L|L	0.59967|0.59967	1.855|1.855	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|0.971;1.0;1.0;0.993;0.999;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D	.|0.97110	.|0.962;1.0;1.0;0.951;0.991;1.0;0.999;0.999	T|T	0.65327|0.65327	-0.6195|-0.6195	5|10	.|0.87932	.|D	.|0	-32.5647|-32.5647	17.8863|17.8863	0.88855|0.88855	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|580;575;213;519;556;536;580;585	.|B7ZL12;B7ZL13;E7EPB7;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3	.|.;.;.;.;.;.;.;FNBP1_HUMAN	T|D	537|585;585;576;585;213;556	.|ENSP00000413625:G585D;ENSP00000407548:G576D;ENSP00000389117:G213D;ENSP00000347907:G556D	.|ENSP00000347907:G556D	A|G	-|-	1|2	0|0	FNBP1|FNBP1	131698030|131698030	1.000000|1.000000	0.71417|0.71417	0.858000|0.858000	0.33744|0.33744	0.860000|0.860000	0.49131|0.49131	7.445000|7.445000	0.80570|0.80570	2.538000|2.538000	0.85594|0.85594	0.561000|0.561000	0.74099|0.74099	GCG|GGC	FNBP1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.423	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP1	HGNC	protein_coding	OTTHUMT00000054630.2	C			132658209	-1	no_errors	ENST00000372416	ensembl	human	known	70_37	missense	SNP	1.000	T
FOS	2353	genome.wustl.edu	37	14	75747316	75747316	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr14:75747316G>A	ENST00000303562.4	+	3	656	c.447G>A	c.(445-447)atG>atA	p.M149I	FOS_ENST00000555686.1_Missense_Mutation_p.M35I|FOS_ENST00000535987.1_Intron|FOS_ENST00000555242.1_Missense_Mutation_p.M149I|FOS_ENST00000555347.1_Start_Codon_SNP_p.M1I	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	149	Basic motif; required for the activation of phospholipid synthesis, but not for CDS1-binding.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	GGAATAAGATGGCTGCAGCCA	0.448																																																	0													57.0	66.0	63.0					14																	75747316		2203	4300	6503	SO:0001583	missense	2353			K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"""basic leucine zipper proteins"""	3796	protein-coding gene	gene with protein product		164810	"""v-fos FBJ murine osteosarcoma viral oncogene homolog"""			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.447G>A	14.37:g.75747316G>A	ENSP00000306245:p.Met149Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.M149I	ENST00000303562.4	37	c.447	CCDS9841.1	14	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215000	0.58452	.	.	ENSG00000170345	ENST00000303562;ENST00000555242;ENST00000555686;ENST00000557139;ENST00000555347	T;T;T;T;T	0.75367	0.09;0.09;0.09;0.09;-0.93	5.2	5.2	0.72013	Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	0.083809	0.85682	D	0.000000	T	0.64125	0.2570	N	0.03224	-0.385	0.80722	D	1	P	0.48162	0.906	P	0.49708	0.62	T	0.71807	-0.4481	10	0.45353	T	0.12	-21.8737	18.707	0.91643	0.0:0.0:1.0:0.0	.	149	P01100	FOS_HUMAN	I	149;149;35;65;1	ENSP00000306245:M149I;ENSP00000452386:M149I;ENSP00000452590:M35I;ENSP00000451786:M65I;ENSP00000450886:M1I	ENSP00000306245:M149I	M	+	3	0	FOS	74817069	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.173000	0.94815	2.579000	0.87056	0.563000	0.77884	ATG	FOS	-	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos		0.448	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOS	HGNC	protein_coding	OTTHUMT00000415044.1	G	NM_005252		75747316	+1	no_errors	ENST00000303562	ensembl	human	known	70_37	missense	SNP	1.000	A
GALNS	2588	genome.wustl.edu	37	16	88902139	88902139	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr16:88902139C>T	ENST00000268695.5	-	7	840	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	GALNS_ENST00000542788.1_Missense_Mutation_p.R176Q	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	251	Catalytic domain.		R -> Q. {ECO:0000269|PubMed:24726177}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		TCACCGCCCTCGCTGACTGGT	0.612																																					GBM(129;1929 2344 25209 33204)												0													90.0	83.0	85.0					16																	88902139		2198	4300	6498	SO:0001583	missense	2588			D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.752G>A	16.37:g.88902139C>T	ENSP00000268695:p.Arg251Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86VK3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.R251Q	ENST00000268695.5	37	c.752	CCDS10970.1	16	.	.	.	.	.	.	.	.	.	.	C	35	5.561765	0.96527	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.98777	-5.13;-5.13	5.05	5.05	0.67936	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98422	0.9475	L	0.53671	1.685	0.80722	D	1	D;D	0.67145	0.974;0.996	P;P	0.57204	0.629;0.815	D	0.98768	1.0727	10	0.42905	T	0.14	.	18.4234	0.90600	0.0:1.0:0.0:0.0	.	251;251	B2R6P1;P34059	.;GALNS_HUMAN	Q	251;176	ENSP00000268695:R251Q;ENSP00000438197:R176Q	ENSP00000268695:R251Q	R	-	2	0	GALNS	87429640	1.000000	0.71417	0.996000	0.52242	0.639000	0.38242	7.314000	0.78988	2.364000	0.80123	0.505000	0.49811	CGA	GALNS	-	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.612	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNS	HGNC	protein_coding	OTTHUMT00000269543.1	C			88902139	-1	no_errors	ENST00000268695	ensembl	human	known	70_37	missense	SNP	1.000	T
GFM2	84340	genome.wustl.edu	37	5	74017486	74017486	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr5:74017486C>G	ENST00000296805.3	-	21	2791	c.2334G>C	c.(2332-2334)ttG>ttC	p.L778F	GFM2_ENST00000515125.1_5'UTR|GFM2_ENST00000345239.2_Missense_Mutation_p.L731F|GFM2_ENST00000509430.1_Missense_Mutation_p.L778F	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		ACATTTAGGTCAAACCACTTC	0.363																																																	0													96.0	101.0	99.0					5																	74017486		2203	4300	6503	SO:0001583	missense	84340			AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.2334G>C	5.37:g.74017486C>G	ENSP00000296805:p.Leu778Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.L778F	ENST00000296805.3	37	c.2334	CCDS4023.1	5	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569951	0.28003	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430	T;T;T	0.64618	-0.11;0.07;-0.11	5.98	-1.7	0.08159	.	0.517604	0.20090	N	0.099462	T	0.33469	0.0864	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.10450	0.005;0.005;0.004	T	0.14839	-1.0458	10	0.72032	D	0.01	0.6232	4.1231	0.10114	0.2159:0.3912:0.3176:0.0753	.	776;731;778	Q969S9-3;Q969S9-2;Q969S9	.;.;RRF2M_HUMAN	F	778;731;600;778	ENSP00000296805:L778F;ENSP00000296804:L731F;ENSP00000427004:L778F	ENSP00000296805:L778F	L	-	3	2	GFM2	74053242	0.115000	0.22152	0.000000	0.03702	0.168000	0.22595	0.642000	0.24735	-0.309000	0.08779	0.650000	0.86243	TTG	GFM2	-	NULL		0.363	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFM2	HGNC	protein_coding	OTTHUMT00000219860.2	C	NM_032380		74017486	-1	no_errors	ENST00000296805	ensembl	human	known	70_37	missense	SNP	0.000	G
GLUL	2752	genome.wustl.edu	37	1	182359685	182359685	+	5'UTR	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:182359685C>G	ENST00000339526.4	-	0	1242				GLUL_ENST00000331872.6_Intron|GLUL_ENST00000491322.1_5'Flank|GLUL_ENST00000417584.2_Intron|GLUL_ENST00000311223.5_5'UTR			P15104	GLNA_HUMAN	glutamate-ammonia ligase						cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	TAACCCTTCTCTTTTTGGAGT	0.592																																																	0																																										SO:0001623	5_prime_UTR_variant	2752			AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000339526.4:c.-67G>C	1.37:g.182359685C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	RNA	SNP	-	NULL	ENST00000339526.4	37	NULL	CCDS1344.1	1																																																																																			GLUL	-	-		0.592	GLUL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUL	HGNC	protein_coding	OTTHUMT00000091044.1	C	NM_002065		182359685	-1	no_errors	ENST00000480604	ensembl	human	known	70_37	rna	SNP	0.498	G
GNAI1	2770	genome.wustl.edu	37	7	79840295	79840295	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr7:79840295G>A	ENST00000351004.3	+	6	974	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	GNAI1_ENST00000457358.2_Missense_Mutation_p.V149M	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	201					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AATGTTTGATGTGGGAGGTCA	0.408																																																	0													152.0	131.0	138.0					7																	79840295		2203	4300	6503	SO:0001583	missense	2770			AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.601G>A	7.37:g.79840295G>A	ENSP00000343027:p.Val201Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA	p.V201M	ENST00000351004.3	37	c.601	CCDS5595.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.117920	0.94385	.	.	ENSG00000127955	ENST00000351004;ENST00000457358	D;D	0.92249	-3.0;-3.0	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.97707	0.9248	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.98528	1.0626	9	.	.	.	.	19.8674	0.96824	0.0:0.0:1.0:0.0	.	201	P63096	GNAI1_HUMAN	M	201;149	ENSP00000343027:V201M;ENSP00000410572:V149M	.	V	+	1	0	GNAI1	79678231	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.690000	0.91761	0.655000	0.94253	GTG	GNAI1	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su		0.408	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI1	HGNC	protein_coding	OTTHUMT00000253254.1	G	NM_002069		79840295	+1	no_errors	ENST00000351004	ensembl	human	known	70_37	missense	SNP	1.000	A
GOLGA8DP	100132979	genome.wustl.edu	37	15	22709084	22709084	+	RNA	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr15:22709084G>A	ENST00000314246.8	-	0	1312				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											TCCTGCTCCCGAAGCCTCTCC	0.597																																																	0																																												100132979					15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709084G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000314246.8	37	NULL		15	.	.	.	.	.	.	.	.	.	.	.	0.750	-0.773012	0.02951	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.887	-1.77	0.07982	.	.	.	.	.	T	0.44138	0.1279	.	.	.	0.24573	N	0.993916	D	0.76494	0.999	P	0.53861	0.736	T	0.48115	-0.9063	6	0.46703	T	0.11	.	4.8521	0.13542	0.0:0.2201:0.558:0.2219	.	139	F8WBT8	.	W	139;139;357	.	ENSP00000327024:R139W	R	-	1	2	AC116165.1	20260448	0.300000	0.24435	0.004000	0.12327	0.017000	0.09413	0.155000	0.16362	-1.397000	0.02068	-1.565000	0.00878	CGG	GOLGA8DP	-	-		0.597	GOLGA8DP-002	KNOWN	basic	processed_transcript	GOLGA8DP	HGNC	pseudogene	OTTHUMT00000415613.1	G	NR_027407		22709084	-1	no_errors	ENST00000314246	ensembl	human	known	70_37	rna	SNP	0.891	A
GPR39	2863	genome.wustl.edu	37	2	133403010	133403010	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:133403010G>T	ENST00000329321.3	+	2	1662	c.1193G>T	c.(1192-1194)cGc>cTc	p.R398L	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	398					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCGTCCCGGCGCCAGTCCTCT	0.597																																																	0													43.0	46.0	45.0					2																	133403010		2203	4300	6503	SO:0001583	missense	2863			AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1193G>T	2.37:g.133403010G>T	ENSP00000327417:p.Arg398Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R398L	ENST00000329321.3	37	c.1193	CCDS2170.1	2	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758264	0.31137	.	.	ENSG00000183840	ENST00000329321	T	0.65364	-0.15	5.15	1.27	0.21489	.	3.580820	0.00649	N	0.000551	T	0.55465	0.1922	L	0.59436	1.845	0.80722	D	1	P	0.39551	0.678	B	0.33690	0.168	T	0.50162	-0.8860	10	0.13853	T	0.58	.	8.6149	0.33826	0.131:0.2313:0.6376:0.0	.	398	O43194	GPR39_HUMAN	L	398	ENSP00000327417:R398L	ENSP00000327417:R398L	R	+	2	0	GPR39	133119480	0.840000	0.29493	0.010000	0.14722	0.022000	0.10575	1.931000	0.40134	0.342000	0.23796	-0.143000	0.13931	CGC	GPR39	-	NULL		0.597	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR39	HGNC	protein_coding	OTTHUMT00000254582.1	G			133403010	+1	no_errors	ENST00000329321	ensembl	human	known	70_37	missense	SNP	0.801	T
GPR4	2828	genome.wustl.edu	37	19	46094537	46094537	+	Silent	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr19:46094537G>C	ENST00000323040.4	-	2	1532	c.588C>G	c.(586-588)ctC>ctG	p.L196L	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	196					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACAGCAGCATGAGCGCCCACG	0.637																																					Esophageal Squamous(117;181 1612 1673 14956 42937)												0													52.0	46.0	48.0					19																	46094537		2203	4300	6503	SO:0001819	synonymous_variant	2828			BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.588C>G	19.37:g.46094537G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Psych_rcpt	p.L196	ENST00000323040.4	37	c.588	CCDS12669.1	19																																																																																			GPR4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.637	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR4	HGNC	protein_coding	OTTHUMT00000459603.1	G	NM_005282		46094537	-1	no_errors	ENST00000323040	ensembl	human	known	70_37	silent	SNP	1.000	C
GRM8	2918	genome.wustl.edu	37	7	126544686	126544686	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr7:126544686C>G	ENST00000339582.2	-	4	1587	c.779G>C	c.(778-780)gGa>gCa	p.G260A	GRM8_ENST00000358373.3_Missense_Mutation_p.G260A|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.G260A|GRM8_ENST00000405249.1_Missense_Mutation_p.G260A			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	260					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TTCAAATTCTCCAGGTCTTGG	0.393										HNSCC(24;0.065)																																							0													94.0	93.0	93.0					7																	126544686		2203	4300	6503	SO:0001583	missense	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.779G>C	7.37:g.126544686C>G	ENSP00000344173:p.Gly260Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.G260A	ENST00000339582.2	37	c.779	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370458	0.42003	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55	5.24	5.24	0.73138	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.83718	0.5315	N	0.20766	0.605	0.80722	D	1	D;B	0.76494	0.999;0.045	D;B	0.87578	0.998;0.06	T	0.79097	-0.1943	10	0.11182	T	0.66	.	17.8349	0.88693	0.0:1.0:0.0:0.0	.	260;260	O00222-2;O00222	.;GRM8_HUMAN	A	260	ENSP00000344173:G260A;ENSP00000409790:G260A;ENSP00000351142:G260A;ENSP00000385731:G260A;ENSP00000415522:G260A	ENSP00000344173:G260A	G	-	2	0	GRM8	126331922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.750000	0.85110	2.445000	0.82738	0.557000	0.71058	GGA	GRM8	-	pfam_ANF_lig-bd_rcpt		0.393	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4	C			126544686	-1	no_errors	ENST00000339582	ensembl	human	known	70_37	missense	SNP	1.000	G
GUK1	2987	genome.wustl.edu	37	1	228334423	228334423	+	Intron	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:228334423G>A	ENST00000366718.1	+	4	581				GUK1_ENST00000391865.3_Intron|GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000366722.1_Intron|GUK1_ENST00000312726.4_Intron|GUK1_ENST00000366723.1_Intron|GUK1_ENST00000366726.1_Intron|GUK1_ENST00000366728.2_Intron|GUK1_ENST00000366721.1_Intron|GUK1_ENST00000366730.1_Intron|GUK1_ENST00000366716.1_Intron	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1						ATP metabolic process (GO:0046034)|dATP metabolic process (GO:0046060)|dGDP biosynthetic process (GO:0006185)|dGMP metabolic process (GO:0046054)|drug metabolic process (GO:0017144)|GDP biosynthetic process (GO:0046711)|GDP-mannose metabolic process (GO:0019673)|glycoprotein transport (GO:0034436)|GMP metabolic process (GO:0046037)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide metabolic process (GO:0006163)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				GCAAGGATCTGACTAAAGCAG	0.612																																																	0																																										SO:0001627	intron_variant	2987			BC006249	CCDS1568.1, CCDS53481.1, CCDS55689.1	1q32-q41	2012-10-02			ENSG00000143774	ENSG00000143774	2.7.4.8		4693	protein-coding gene	gene with protein product		139270				8647247	Standard	NM_000858		Approved		uc021pkf.1	Q16774	OTTHUMG00000039503	ENST00000366718.1:c.155-120G>A	1.37:g.228334423G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ANH1	RNA	SNP	-	NULL	ENST00000366718.1	37	NULL	CCDS1568.1	1																																																																																			GUK1	-	-		0.612	GUK1-021	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	GUK1	HGNC	protein_coding	OTTHUMT00000095944.1	G	NM_000858		228334423	+1	no_errors	ENST00000470040	ensembl	human	known	70_37	rna	SNP	0.000	A
HERC2P9	440248	genome.wustl.edu	37	15	28886645	28886645	+	IGR	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr15:28886645C>T								GOLGA8G (108502 upstream) : HERC2P9 (12942 downstream)																							TGCTGGAAGTCACCTTTGGCA	0.398																																																	0																																										SO:0001628	intergenic_variant	440248																															15.37:g.28886645C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		15																																																																																			HERC2P9	-	-	0	0.398					HERC2P9	HGNC			C			28886645	+1	no_errors	ENST00000529353	ensembl	human	known	70_37	rna	SNP	0.999	T
HPS4	89781	genome.wustl.edu	37	22	26873059	26873059	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr22:26873059C>G	ENST00000398145.2	-	4	792	c.176G>C	c.(175-177)gGa>gCa	p.G59A	HPS4_ENST00000336873.5_Missense_Mutation_p.G59A|HPS4_ENST00000398141.1_Missense_Mutation_p.G54A|HPS4_ENST00000402105.3_Missense_Mutation_p.G54A	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	59					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GCGGACAACTCCAGCAATCTG	0.443									Hermansky-Pudlak syndrome																																								0													89.0	83.0	85.0					22																	26873059		2203	4300	6503	SO:0001583	missense	89781	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.176G>C	22.37:g.26873059C>G	ENSP00000381213:p.Gly59Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	NULL	p.G54A	ENST00000398145.2	37	c.161	CCDS13835.1	22	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590658	0.86851	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.96645	0.8905	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.96641	0.9474	10	0.66056	D	0.02	-24.6905	17.9695	0.89108	0.0:1.0:0.0:0.0	.	59;54;59;54	Q6ICH6;E5RG08;Q9NQG7;Q9NQG7-3	.;.;HPS4_HUMAN;.	A	59;54;54;59;59;59	ENSP00000381213:G59A;ENSP00000381210:G54A;ENSP00000384185:G54A;ENSP00000338457:G59A;ENSP00000415081:G59A	ENSP00000325840:G59A	G	-	2	0	HPS4	25203059	1.000000	0.71417	0.257000	0.24404	0.826000	0.46750	6.168000	0.71908	2.824000	0.97209	0.655000	0.94253	GGA	HPS4	-	NULL		0.443	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPS4	HGNC	protein_coding	OTTHUMT00000320778.1	C	NM_022081		26873059	-1	no_errors	ENST00000398141	ensembl	human	known	70_37	missense	SNP	0.999	G
HSPA8	3312	genome.wustl.edu	37	11	122928971	122928971	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:122928971C>T	ENST00000532636.1	-	8	1863	c.1744G>A	c.(1744-1746)Gat>Aat	p.D582N	SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000534319.1_Missense_Mutation_p.D346N|HSPA8_ENST00000533540.1_Missense_Mutation_p.D436N|HSPA8_ENST00000526862.1_5'Flank|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.D582N|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.D582N|HSPA8_ENST00000526110.1_Missense_Mutation_p.D563N|HSPA8_ENST00000453788.2_Intron			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	582					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGATTCTTATCAAGCCAGTTG	0.393																																					Colon(21;486 594 5900 6733 14272)												0													74.0	79.0	77.0					11																	122928971		2202	4299	6501	SO:0001583	missense	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1744G>A	11.37:g.122928971C>T	ENSP00000437125:p.Asp582Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H3R6	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.D582N	ENST00000532636.1	37	c.1744	CCDS8440.1	11	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982202	0.74474	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36;2.36;2.36	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	M	0.71206	2.165	0.80722	D	1	B;B	0.25007	0.116;0.116	B;B	0.37346	0.247;0.247	T	0.20773	-1.0265	10	0.72032	D	0.01	-18.3636	18.193	0.89813	0.0:1.0:0.0:0.0	.	582;582	Q53GZ6;P11142	.;HSP7C_HUMAN	N	582;436;582;582;346;563;173;134	ENSP00000437125:D582N;ENSP00000437189:D436N;ENSP00000432083:D582N;ENSP00000227378:D582N;ENSP00000433316:D346N;ENSP00000433584:D563N;ENSP00000435908:D173N;ENSP00000435019:D134N	ENSP00000227378:D582N	D	-	1	0	HSPA8	122434181	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	7.786000	0.85741	2.373000	0.80994	0.561000	0.74099	GAT	HSPA8	-	pfam_Hsp_70_fam		0.393	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	HSPA8	HGNC	protein_coding	OTTHUMT00000387515.1	C			122928971	-1	no_errors	ENST00000534624	ensembl	human	known	70_37	missense	SNP	1.000	T
HTR1A	3350	genome.wustl.edu	37	5	63257096	63257096	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr5:63257096G>A	ENST00000323865.3	-	1	684	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	151					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCGGCGCGCCGGGGCGTCCTC	0.647																																																	0													76.0	84.0	81.0					5																	63257096		2203	4300	6503	SO:0001583	missense	3350			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.451C>T	5.37:g.63257096G>A	ENSP00000316244:p.Arg151Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6LAE7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt	p.R151W	ENST00000323865.3	37	c.451	CCDS34168.1	5	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231169	0.58777	.	.	ENSG00000178394	ENST00000323865	T	0.42900	0.96	5.6	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.052705	0.64402	D	0.000001	T	0.69949	0.3168	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75964	-0.3132	10	0.87932	D	0	.	12.8573	0.57892	0.0:0.0:0.5703:0.4297	.	151	P08908	5HT1A_HUMAN	W	151	ENSP00000316244:R151W	ENSP00000316244:R151W	R	-	1	2	HTR1A	63292852	0.994000	0.37717	1.000000	0.80357	0.932000	0.56968	0.330000	0.19715	0.682000	0.31407	0.655000	0.94253	CGG	HTR1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM		0.647	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	HGNC	protein_coding	OTTHUMT00000368397.1	G	NM_000524		63257096	-1	no_errors	ENST00000323865	ensembl	human	known	70_37	missense	SNP	1.000	A
HTR3E	285242	genome.wustl.edu	37	3	183823717	183823717	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:183823717G>A	ENST00000415389.2	+	7	1351	c.885G>A	c.(883-885)atG>atA	p.M295I	HTR3E_ENST00000440596.2_Missense_Mutation_p.M321I|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000335304.2_Missense_Mutation_p.M310I|HTR3E_ENST00000436361.2_Missense_Mutation_p.M295I|HTR3E_ENST00000425359.2_Missense_Mutation_p.M280I	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	295					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	TCCTGCTCATGATGAGTGACT	0.542																																					Melanoma(7;227 727 6634 44770)												0													220.0	184.0	196.0					3																	183823717		2203	4300	6503	SO:0001583	missense	285242			AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.885G>A	3.37:g.183823717G>A	ENSP00000401444:p.Met295Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.M310I	ENST00000415389.2	37	c.930	CCDS58868.1	3	.	.	.	.	.	.	.	.	.	.	g	1.876	-0.459168	0.04508	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000436361;ENST00000440596	D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88	3.64	2.75	0.32379	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.758435	0.11578	U	0.549991	T	0.80824	0.4697	L	0.39514	1.22	0.28039	N	0.933818	B;B;B;B;B	0.30763	0.005;0.053;0.294;0.294;0.043	B;B;B;B;B	0.40066	0.008;0.16;0.318;0.318;0.1	T	0.71454	-0.4588	10	0.37606	T	0.19	.	5.9215	0.19084	0.2421:0.0:0.7579:0.0	.	321;295;295;310;280	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	I	295;280;310;295;321	ENSP00000401444:M295I;ENSP00000401900:M280I;ENSP00000335511:M310I;ENSP00000395833:M295I;ENSP00000406050:M321I	ENSP00000335511:M310I	M	+	3	0	HTR3E	185306411	0.986000	0.35501	1.000000	0.80357	0.986000	0.74619	0.188000	0.17018	0.854000	0.35336	0.655000	0.94253	ATG	HTR3E	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.542	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3E	HGNC	protein_coding	OTTHUMT00000346284.1	G	NM_182589		183823717	+1	no_errors	ENST00000335304	ensembl	human	known	70_37	missense	SNP	1.000	A
IDS	3423	genome.wustl.edu	37	X	148571887	148571887	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:148571887G>C	ENST00000340855.6	-	7	1173	c.964C>G	c.(964-966)Cag>Gag	p.Q322E	IDS_ENST00000490775.1_5'UTR|IDS_ENST00000541269.1_Missense_Mutation_p.Q111E|IDS_ENST00000370441.4_Missense_Mutation_p.Q322E|IDS_ENST00000537071.1_5'Flank|IDS_ENST00000422081.2_Missense_Mutation_p.Q111E	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	322					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TTGGCCAGCTGAAGATCGTCC	0.453																																																	0													112.0	99.0	103.0					X																	148571887		2203	4300	6503	SO:0001583	missense	3423			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.964C>G	X.37:g.148571887G>C	ENSP00000339801:p.Gln322Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.Q322E	ENST00000340855.6	37	c.964	CCDS14685.1	X	.	.	.	.	.	.	.	.	.	.	G	4.066	0.010087	0.07912	.	.	ENSG00000010404	ENST00000340855;ENST00000541269;ENST00000370441	D;D;D	0.99886	-7.52;-7.52;-7.52	4.97	4.97	0.65823	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.394490	0.24695	N	0.036357	D	0.99158	0.9709	N	0.25647	0.755	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.002;0.004;0.005	D	0.99988	1.3673	10	0.24483	T	0.36	.	12.3215	0.54987	0.0:0.3413:0.6586:0.0	.	322;232;322	P22304-2;B4DGD7;P22304	.;.;IDS_HUMAN	E	322;111;322	ENSP00000339801:Q322E;ENSP00000441261:Q111E;ENSP00000359470:Q322E	ENSP00000339801:Q322E	Q	-	1	0	IDS	148379792	0.999000	0.42202	0.906000	0.35671	0.202000	0.24057	2.834000	0.48167	2.058000	0.61347	0.513000	0.50165	CAG	IDS	-	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.453	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	HGNC	protein_coding	OTTHUMT00000058677.3	G			148571887	-1	no_errors	ENST00000340855	ensembl	human	known	70_37	missense	SNP	0.987	C
IFITM10	402778	genome.wustl.edu	37	11	1756472	1756472	+	3'UTR	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:1756472C>T	ENST00000340134.4	-	0	873				IFITM10_ENST00000482459.1_5'UTR	NM_001170820.3	NP_001164291.2	A6NMD0	IFM10_HUMAN	interferon induced transmembrane protein 10						response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											AAACATGTCTCAGTGCTTGTC	0.607																																																	0													62.0	62.0	62.0					11																	1756472		692	1591	2283	SO:0001624	3_prime_UTR_variant	402778				CCDS53593.1, CCDS53593.2	11p15.5	2011-05-06			ENSG00000244242	ENSG00000244242			40022	protein-coding gene	gene with protein product							Standard	NM_001170820		Approved		uc021qbs.2	A6NMD0	OTTHUMG00000043933	ENST00000340134.4:c.*38G>A	11.37:g.1756472C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEU7	RNA	SNP	-	NULL	ENST00000340134.4	37	NULL	CCDS53593.2	11																																																																																			IFITM10	-	-		0.607	IFITM10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	IFITM10	HGNC	protein_coding	OTTHUMT00000102341.5	C	NM_001170820		1756472	-1	no_errors	ENST00000482459	ensembl	human	known	70_37	rna	SNP	0.001	T
IKZF1	10320	genome.wustl.edu	37	7	50435616	50435617	+	Intron	INS	-	-	A	rs11766800	byFrequency	TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr7:50435616_50435617insA	ENST00000331340.3	+	4	315				IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000492782.1_Intron|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000413698.1_Intron|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000439701.1_Intron|IKZF1_ENST00000346667.4_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)						B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CGTTCTTTTTTAAAAAAAAGta	0.371			"""D,T"""	BCL6	"""ALL, DLBCL"""																																			"""Rec,Dom"""	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	28	Unknown(28)	haematopoietic_and_lymphoid_tissue(28)																																								SO:0001627	intron_variant	10320			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.161-8614->A	7.37:g.50435624_50435624dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	RNA	INS	-	NULL	ENST00000331340.3	37	NULL		7																																																																																			IKZF1	-	-		0.371	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	IKZF1	HGNC	protein_coding	OTTHUMT00000342242.1	-	NM_006060		50435617	+1	no_errors	ENST00000492119	ensembl	human	putative	70_37	rna	INS	0.001:0.001	A
IL1RAPL1	11141	genome.wustl.edu	37	X	29301125	29301125	+	Silent	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:29301125C>T	ENST00000378993.1	+	3	826	c.153C>T	c.(151-153)atC>atT	p.I51I	IL1RAPL1_ENST00000302196.4_Silent_p.I51I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	51	Ig-like C2-type 1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CTGTTCGAATCAAATGTGCAC	0.413																																																	0													151.0	132.0	138.0					X																	29301125		2202	4300	6502	SO:0001819	synonymous_variant	11141			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.153C>T	X.37:g.29301125C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVG4|Q9UJ53	Silent	SNP	pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1	p.I51	ENST00000378993.1	37	c.153	CCDS14218.1	X																																																																																			IL1RAPL1	-	smart_Ig_sub,pfscan_Ig-like		0.413	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	HGNC	protein_coding	OTTHUMT00000056155.1	C	NM_014271		29301125	+1	no_errors	ENST00000302196	ensembl	human	known	70_37	silent	SNP	1.000	T
INHBB	3625	genome.wustl.edu	37	2	121106682	121106682	+	Silent	SNP	C	C	T	rs145813735		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:121106682C>T	ENST00000295228.3	+	2	502	c.456C>T	c.(454-456)ctC>ctT	p.L152L		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	152					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CAGATGGCCTCGCCTCCTCCC	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19226	0.0		0.0	False		,,,				2504	0.0																0								C		2,4404	4.2+/-10.8	0,2,2201	48.0	53.0	51.0		456	-5.9	0.6	2	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous	INHBB	NM_002193.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		152/408	121106682	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3625				CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.456C>T	2.37:g.121106682C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53T31|Q8N1D3	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu	p.L152	ENST00000295228.3	37	c.456	CCDS2132.1	2																																																																																			INHBB	-	pfam_TGF-b_N,prints_Inhibin_betaB		0.552	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBB	HGNC	protein_coding	OTTHUMT00000254234.1	C			121106682	+1	no_errors	ENST00000295228	ensembl	human	known	70_37	silent	SNP	0.004	T
INSRR	3645	genome.wustl.edu	37	1	156821165	156821165	+	Silent	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:156821165G>C	ENST00000368195.3	-	5	1542	c.1146C>G	c.(1144-1146)ctC>ctG	p.L382L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	382					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTTGATTTTGAGGAAGCCAG	0.547																																																	0													144.0	154.0	151.0					1																	156821165		2203	4300	6503	SO:0001819	synonymous_variant	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1146C>G	1.37:g.156821165G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O60724|Q5VZS3	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L382	ENST00000368195.3	37	c.1146	CCDS1160.1	1																																																																																			INSRR	-	pfam_EGF_rcpt_L,pirsf_Tyr_kinase_insulin-like_rcpt		0.547	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSRR	HGNC	protein_coding	OTTHUMT00000098929.1	G	NM_014215		156821165	-1	no_errors	ENST00000368195	ensembl	human	known	70_37	silent	SNP	1.000	C
IQSEC2	23096	genome.wustl.edu	37	X	53276287	53276287	+	Silent	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:53276287G>A	ENST00000375368.5	-	7	2783	c.2583C>T	c.(2581-2583)ctC>ctT	p.L861L	IQSEC2_ENST00000375365.2_Silent_p.L666L|IQSEC2_ENST00000396435.3_Silent_p.L871L			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	861	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.L868L(1)|p.L871L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						ACTGGCGCACGAGGGCTGGGT	0.567																																																	2	Substitution - coding silent(2)	breast(2)											132.0	83.0	99.0					X																	53276287		2203	4300	6503	SO:0001819	synonymous_variant	23096			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.2583C>T	X.37:g.53276287G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KT97|C7SDG1|O60275|Q5JUX1	Silent	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.L871	ENST00000375368.5	37	c.2613		X																																																																																			IQSEC2	-	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7		0.567	IQSEC2-201	KNOWN	basic	protein_coding	IQSEC2	HGNC	protein_coding		G	XM_291345		53276287	-1	no_errors	ENST00000396435	ensembl	human	known	70_37	silent	SNP	0.580	A
KCNK4	50801	genome.wustl.edu	37	11	64064417	64064417	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:64064417C>T	ENST00000539216.1	+	2	617	c.257C>T	c.(256-258)tCa>tTa	p.S86L	RP11-783K16.10_ENST00000539086.1_RNA|Y_RNA_ENST00000384297.1_RNA|KCNK4_ENST00000422670.2_Missense_Mutation_p.S86L|KCNK4_ENST00000394525.2_Missense_Mutation_p.S86L|KCNK4_ENST00000538767.1_Nonsense_Mutation_p.Q20*|KCNK4_ENST00000539651.1_3'UTR			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	86					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						AGCAGCCACTCAGCCTGGGAC	0.627																																																	0													53.0	63.0	60.0					11																	64064417		2201	4297	6498	SO:0001583	missense	50801			AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.257C>T	11.37:g.64064417C>T	ENSP00000444948:p.Ser86Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B5TJL1|Q96T94	Nonsense_Mutation	SNP	NULL	p.Q20*	ENST00000539216.1	37	c.58	CCDS8067.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	37|37	6.390133|6.390133	0.97529|0.97529	.|.	.|.	ENSG00000182450|ENSG00000182450	ENST00000538767|ENST00000422670;ENST00000539852;ENST00000394525;ENST00000544845;ENST00000539216	.|T;T;T	.|0.30448	.|1.53;1.53;1.53	5.3|5.3	5.3|5.3	0.74995|0.74995	.|Ion transport 2 (1);	.|0.000000	.|0.43579	.|D	.|0.000543	.|T	.|0.42200	.|0.1192	L|L	0.32530|0.32530	0.975|0.975	0.30277|0.30277	N|N	0.791733|0.791733	.|P	.|0.51653	.|0.947	.|P	.|0.62382	.|0.901	.|T	.|0.37934	.|-0.9684	.|10	0.87932|0.59425	D|D	0|0.04	.|.	14.475|14.475	0.67539|0.67539	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|86	.|Q9NYG8	.|KCNK4_HUMAN	X|L	20|86;111;86;148;86	.|ENSP00000402797:S86L;ENSP00000378033:S86L;ENSP00000444948:S86L	ENSP00000446454:Q20X|ENSP00000378033:S86L	Q|S	+|+	1|2	0|0	KCNK4|KCNK4	63820993|63820993	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.804000|2.804000	0.47931|0.47931	2.494000|2.494000	0.84150|0.84150	0.550000|0.550000	0.68814|0.68814	CAG|TCA	KCNK4	-	NULL		0.627	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNK4	HGNC	protein_coding	OTTHUMT00000396430.1	C	NM_033311		64064417	+1	no_errors	ENST00000538767	ensembl	human	putative	70_37	nonsense	SNP	1.000	T
KDM2A	22992	genome.wustl.edu	37	11	66985142	66985142	+	Intron	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:66985142G>C	ENST00000529006.2	+	9	1133				KDM2A_ENST00000526258.1_Intron|KDM2A_ENST00000398645.2_Intron	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A						histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TTTATCAGTTGAGGGAGACGA	0.453																																																	0																																										SO:0001627	intron_variant	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.688-60G>C	11.37:g.66985142G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	RNA	SNP	-	NULL	ENST00000529006.2	37	NULL	CCDS44657.1	11																																																																																			KDM2A	-	-		0.453	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	G	NM_012308		66985142	+1	no_errors	ENST00000525379	ensembl	human	putative	70_37	rna	SNP	1.000	C
KIAA1644	85352	genome.wustl.edu	37	22	44692659	44692659	+	Silent	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr22:44692659G>C	ENST00000381176.4	-	3	306	c.174C>G	c.(172-174)ctC>ctG	p.L58L		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	58						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				GGTGACAACAGAGGATGAAGG	0.557																																																	0													172.0	189.0	184.0					22																	44692659		2134	4240	6374	SO:0001819	synonymous_variant	85352			AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.174C>G	22.37:g.44692659G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Silent	SNP	NULL	p.L58	ENST00000381176.4	37	c.174	CCDS43025.1	22																																																																																			KIAA1644	-	NULL		0.557	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1644	HGNC	protein_coding	OTTHUMT00000075879.2	G	NM_001099294		44692659	-1	no_errors	ENST00000381176	ensembl	human	putative	70_37	silent	SNP	0.996	C
KIF26A	26153	genome.wustl.edu	37	14	104641549	104641549	+	Silent	SNP	C	C	T	rs367843200		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr14:104641549C>T	ENST00000423312.2	+	12	2424	c.2424C>T	c.(2422-2424)aaC>aaT	p.N808N	KIF26A_ENST00000315264.7_Silent_p.N669N	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	808					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TCACCGACAACGAAGGTCCGC	0.672																																																	0								C		0,4190		0,0,2095	26.0	31.0	29.0		2424	-1.7	0.0	14		29	1,8391		0,1,4195	no	coding-synonymous	KIF26A	NM_015656.1		0,1,6290	TT,TC,CC		0.0119,0.0,0.0079		808/1883	104641549	1,12581	2095	4196	6291	SO:0001819	synonymous_variant	26153			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2424C>T	14.37:g.104641549C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.N808	ENST00000423312.2	37	c.2424	CCDS45171.1	14																																																																																			KIF26A	-	NULL		0.672	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	HGNC	protein_coding	OTTHUMT00000414356.1	C			104641549	+1	no_errors	ENST00000423312	ensembl	human	known	70_37	silent	SNP	0.794	T
KLK11	11012	genome.wustl.edu	37	19	51530213	51530213	+	Intron	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr19:51530213C>G	ENST00000594768.1	-	1	247				KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000453757.3_5'Flank|KLK11_ENST00000319720.7_Intron|KLK11_ENST00000391804.3_Intron|KLK11_ENST00000600362.1_5'Flank	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		atgtgtctgtctgcctttctc	0.458																																																	0																																										SO:0001627	intron_variant	11012			AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6359	protein-coding gene	gene with protein product		604434	"""kallikrein 11"""	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.61+499G>C	19.37:g.51530213C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O75837|Q0WXX5|Q8IXD7|Q9NS65	RNA	SNP	-	NULL	ENST00000594768.1	37	NULL	CCDS12818.1	19																																																																																			KLK11	-	-		0.458	KLK11-002	KNOWN	basic|CCDS	protein_coding	KLK11	HGNC	protein_coding	OTTHUMT00000464314.2	C	NM_006853		51530213	-1	no_errors	ENST00000594458	ensembl	human	known	70_37	rna	SNP	0.003	G
KRT3	3850	genome.wustl.edu	37	12	53185154	53185154	+	Silent	SNP	G	G	A	rs376658995		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:53185154G>A	ENST00000417996.2	-	7	1445	c.1371C>T	c.(1369-1371)ctC>ctT	p.L457L	KRT3_ENST00000309505.3_Silent_p.L457L	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	457	Coil 2.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TGGCATCCTTGAGGGCCATCT	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21874	0.0		0.0	False		,,,				2504	0.0																0								G		1,4405	2.1+/-5.4	0,1,2202	91.0	88.0	89.0		1371	3.8	1.0	12		89	0,8600		0,0,4300	no	coding-synonymous	KRT3	NM_057088.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		457/629	53185154	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3850				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1371C>T	12.37:g.53185154G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIS2|Q701L8	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.L457	ENST00000417996.2	37	c.1371	CCDS44895.1	12																																																																																			KRT3	-	pfam_F,prints_Keratin_II		0.602	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KRT3	HGNC	protein_coding	OTTHUMT00000405930.1	G	NM_057088		53185154	-1	no_errors	ENST00000309505	ensembl	human	known	70_37	silent	SNP	1.000	A
KRT32	3882	genome.wustl.edu	37	17	39623183	39623183	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:39623183G>C	ENST00000225899.3	-	1	498	c.395C>G	c.(394-396)tCt>tGt	p.S132C	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	132	Linker 1.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CTGGGAGTGAGAGGCCTCTTG	0.592																																																	0													108.0	95.0	99.0					17																	39623183		2203	4300	6503	SO:0001583	missense	3882			X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.395C>G	17.37:g.39623183G>C	ENSP00000225899:p.Ser132Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.S132C	ENST00000225899.3	37	c.395	CCDS11393.1	17	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.093488	0.00364	.	.	ENSG00000108759	ENST00000225899	D	0.89270	-2.49	5.23	0.759	0.18438	Filament (1);	1.005750	0.08011	N	0.990330	T	0.68016	0.2955	N	0.01817	-0.705	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.56263	-0.8008	10	0.26408	T	0.33	.	1.071	0.01621	0.1554:0.3173:0.286:0.2414	.	132	Q14532	K1H2_HUMAN	C	132	ENSP00000225899:S132C	ENSP00000225899:S132C	S	-	2	0	KRT32	36876709	0.002000	0.14202	0.045000	0.18777	0.462000	0.32619	-0.204000	0.09425	-0.007000	0.14345	-0.502000	0.04539	TCT	KRT32	-	pfam_F		0.592	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT32	HGNC	protein_coding	OTTHUMT00000257293.1	G	NM_002278		39623183	-1	no_errors	ENST00000225899	ensembl	human	known	70_37	missense	SNP	0.008	C
LGI4	163175	genome.wustl.edu	37	19	35622312	35622312	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr19:35622312C>G	ENST00000310123.3	-	6	1125	c.606G>C	c.(604-606)aaG>aaC	p.K202N	LGI4_ENST00000392225.3_Missense_Mutation_p.K202N|LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000591633.1_Missense_Mutation_p.K202N	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	202	LRRCT.				adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			ACTTGAAAGTCTTGGGGTCGA	0.667																																																	0													12.0	11.0	11.0					19																	35622312		2137	4188	6325	SO:0001583	missense	163175			AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.606G>C	19.37:g.35622312C>G	ENSP00000312273:p.Lys202Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.K202N	ENST00000310123.3	37	c.606	CCDS12444.1	19	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554851	0.27739	.	.	ENSG00000153902	ENST00000310123;ENST00000392225;ENST00000437421	T;T	0.64803	-0.12;-0.01	4.08	1.7	0.24286	Cysteine-rich flanking region, C-terminal (1);	0.874255	0.09710	N	0.765806	T	0.46870	0.1415	N	0.11064	0.09	0.23758	N	0.996921	B;B;B	0.26400	0.126;0.089;0.148	B;B;B	0.34138	0.176;0.038;0.056	T	0.47249	-0.9132	10	0.42905	T	0.14	.	11.699	0.51560	0.0:0.6595:0.3405:0.0	.	202;113;202	Q8N135-2;Q658V8;Q8N135	.;.;LGI4_HUMAN	N	202	ENSP00000312273:K202N;ENSP00000376059:K202N	ENSP00000312273:K202N	K	-	3	2	LGI4	40314152	0.669000	0.27502	0.320000	0.25306	0.507000	0.33981	1.398000	0.34554	0.682000	0.31407	0.485000	0.47835	AAG	LGI4	-	smart_Cys-rich_flank_reg_C		0.667	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI4	HGNC	protein_coding	OTTHUMT00000103963.1	C			35622312	-1	no_errors	ENST00000310123	ensembl	human	known	70_37	missense	SNP	0.443	G
LIPH	200879	genome.wustl.edu	37	3	185236975	185236975	+	Missense_Mutation	SNP	A	A	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:185236975A>G	ENST00000296252.4	-	6	982	c.841T>C	c.(841-843)Tgt>Cgt	p.C281R	LIPH_ENST00000424591.2_Missense_Mutation_p.C247R	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	281					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CAGCTGACACACTTGCCATTC	0.488																																																	0													142.0	140.0	141.0					3																	185236975		2203	4300	6503	SO:0001583	missense	200879			AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.841T>C	3.37:g.185236975A>G	ENSP00000296252:p.Cys281Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A2IBA7|Q8TEC7	Missense_Mutation	SNP	pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.C281R	ENST00000296252.4	37	c.841	CCDS3272.1	3	.	.	.	.	.	.	.	.	.	.	A	20.5	3.995523	0.74703	.	.	ENSG00000163898	ENST00000296252;ENST00000424591	D;D	0.92911	-3.13;-3.13	5.01	5.01	0.66863	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97250	0.9101	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98366	1.0551	10	0.87932	D	0	-19.1591	14.0892	0.64977	1.0:0.0:0.0:0.0	.	247;281	A2IBA6;Q8WWY8	.;LIPH_HUMAN	R	281;247	ENSP00000296252:C281R;ENSP00000396384:C247R	ENSP00000296252:C281R	C	-	1	0	LIPH	186719669	1.000000	0.71417	0.996000	0.52242	0.814000	0.46013	7.872000	0.87187	2.110000	0.64415	0.374000	0.22700	TGT	LIPH	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH		0.488	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPH	HGNC	protein_coding	OTTHUMT00000345153.1	A			185236975	-1	no_errors	ENST00000296252	ensembl	human	known	70_37	missense	SNP	1.000	G
LOC344967	344967	genome.wustl.edu	37	4	40045242	40045242	+	RNA	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr4:40045242G>C	ENST00000381811.2	-	0	907					NR_027277.1																						GCTCTGGGTTGAGGACTGGCT	0.602																																																	0																																												344967																															4.37:g.40045242G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000381811.2	37	NULL		4																																																																																			RP11-333E13.4	-	-		0.602	RP11-333E13.4-002	KNOWN	basic	processed_transcript	LOC344967	Clone_based_vega_gene	pseudogene	OTTHUMT00000361278.1	G			40045242	-1	no_errors	ENST00000381811	ensembl	human	known	70_37	rna	SNP	0.232	C
FAM230B	642633	genome.wustl.edu	37	22	21538476	21538476	+	RNA	SNP	A	A	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr22:21538476A>C	ENST00000451257.1	+	0	1462									family with sequence similarity 230, member B (non-protein coding)																		CCGCCCACGGAATCGCCAGTG	0.726																																																	0																																												642633			BC039313, AK128837		22q11.21	2014-01-24	2014-01-06		ENSG00000215498	ENSG00000215498			32943	non-coding RNA	RNA, long non-coding			"""family with sequence similarity 230, member B"""				Standard	NR_108107		Approved	FLJ46366			OTTHUMG00000150782		22.37:g.21538476A>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000451257.1	37	NULL		22																																																																																			KB-1183D5.11	-	-		0.726	FAM230B-002	KNOWN	basic	lincRNA	LOC642633	Clone_based_vega_gene	processed_transcript	OTTHUMT00000320063.1	A	NR_108107		21538476	+1	no_errors	ENST00000451257	ensembl	human	known	70_37	rna	SNP	0.000	C
LRRIQ1	84125	genome.wustl.edu	37	12	85432072	85432072	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:85432072G>C	ENST00000393217.2	+	2	179	c.118G>C	c.(118-120)Gat>Cat	p.D40H	TSPAN19_ENST00000547403.2_5'Flank|TSPAN19_ENST00000532498.2_5'Flank	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	40										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AACCCAGAGTGATGATAGTGA	0.363																																																	0													122.0	120.0	120.0					12																	85432072		2203	4300	6503	SO:0001583	missense	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.118G>C	12.37:g.85432072G>C	ENSP00000376910:p.Asp40His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.D40H	ENST00000393217.2	37	c.118	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433920	0.25813	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393212;ENST00000393217	T;T	0.57436	0.99;0.4	4.64	1.96	0.26148	.	0.340339	0.21289	N	0.077013	T	0.58623	0.2135	L	0.53249	1.67	0.20764	N	0.999856	D;D	0.89917	1.0;0.999	D;P	0.68765	0.96;0.87	T	0.46386	-0.9195	10	0.72032	D	0.01	.	3.044	0.06147	0.3614:0.221:0.4175:0.0	.	40;40	Q96JM4;C9JI57	LRIQ1_HUMAN;.	H	40	ENSP00000376906:D40H;ENSP00000376910:D40H	ENSP00000256007:D40H	D	+	1	0	LRRIQ1	83956203	0.944000	0.32072	0.740000	0.30986	0.196000	0.23810	1.579000	0.36536	0.816000	0.34421	0.650000	0.86243	GAT	LRRIQ1	-	NULL		0.363	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	G	NM_032165		85432072	+1	no_errors	ENST00000393217	ensembl	human	known	70_37	missense	SNP	0.354	C
LSM14B	149986	genome.wustl.edu	37	20	60702804	60702804	+	Intron	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr20:60702804G>C	ENST00000279068.6	+	3	587				LSM14B_ENST00000370915.1_Silent_p.L197L|LSM14B_ENST00000253001.4_Silent_p.L197L	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)						multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			AAACCATTCTGAGAGCGAGGG	0.517																																																	0																																										SO:0001627	intron_variant	149986			AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 40"", ""family with sequence similarity 61, member B"", ""LSM14 homolog B (SCD6, S. cerevisiae)"""	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.427+1309G>C	20.37:g.60702804G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PFW8|Q96LH8	Silent	SNP	pfam_FDF_dom,superfamily_LSM_dom	p.L197	ENST00000279068.6	37	c.591	CCDS46626.1	20																																																																																			LSM14B	-	NULL		0.517	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM14B	HGNC	protein_coding	OTTHUMT00000079996.4	G	NM_144703		60702804	+1	no_errors	ENST00000253001	ensembl	human	known	70_37	silent	SNP	0.004	C
MACF1	23499	genome.wustl.edu	37	1	39951743	39951743	+	3'UTR	DEL	A	A	-	rs3839022|rs551344914	byFrequency	TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:39951743delA	ENST00000372915.3	+	0	22531				MACF1_ENST00000317713.7_3'UTR|MACF1_ENST00000539005.1_3'UTR|MACF1_ENST00000289893.4_3'UTR|MACF1_ENST00000564288.1_3'UTR|MACF1_ENST00000567887.1_3'UTR|MACF1_ENST00000545844.1_3'UTR|MACF1_ENST00000361689.2_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATGTGTATTAAAAAAAAAAA	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.*277A>-	1.37:g.39951743delA		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	RNA	DEL	-	NULL	ENST00000372915.3	37	NULL		1																																																																																			MACF1	-	-		0.343	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	A	NM_033044		39951743	+1	no_errors	ENST00000496360	ensembl	human	known	70_37	rna	DEL	0.084	-
MAP3K10	4294	genome.wustl.edu	37	19	40720877	40720877	+	Splice_Site	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr19:40720877G>A	ENST00000253055.3	+	10	2831	c.2543G>A	c.(2542-2544)gGc>gAc	p.G848D		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	848					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CTCTTACCAGGCCCTCGTGAC	0.637																																																	0													26.0	20.0	22.0					19																	40720877		2170	4240	6410	SO:0001630	splice_region_variant	4294			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.2543-1G>A	19.37:g.40720877G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q12761|Q14871	Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.G848D	ENST00000253055.3	37	c.2543	CCDS12549.1	19	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327307	0.24080	.	.	ENSG00000130758	ENST00000253055	T	0.78595	-1.19	4.5	3.47	0.39725	.	0.123056	0.53938	N	0.000054	T	0.66458	0.2791	L	0.40543	1.245	0.58432	D	0.99999	B	0.24186	0.099	B	0.22601	0.04	T	0.59658	-0.7413	9	.	.	.	.	10.2533	0.43381	0.0975:0.0:0.9025:0.0	.	848	Q02779	M3K10_HUMAN	D	848	ENSP00000253055:G848D	.	G	+	2	0	MAP3K10	45412717	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	7.742000	0.85008	1.121000	0.41925	0.511000	0.50034	GGC	MAP3K10	-	pirsf_MAPKKK9/10/11		0.637	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K10	HGNC	protein_coding	OTTHUMT00000462552.1	G	NM_002446	Missense_Mutation	40720877	+1	no_errors	ENST00000253055	ensembl	human	known	70_37	missense	SNP	1.000	A
MB21D2	151963	genome.wustl.edu	37	3	192516904	192516904	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:192516904C>G	ENST00000392452.2	-	2	1067	c.747G>C	c.(745-747)caG>caC	p.Q249H		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	249							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TGAGCCAGCTCTGGGCCACTG	0.493																																																	0													76.0	72.0	73.0					3																	192516904		2203	4300	6503	SO:0001583	missense	151963			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.747G>C	3.37:g.192516904C>G	ENSP00000376246:p.Gln249His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86VD8	Missense_Mutation	SNP	pfam_Mab-21_dom	p.Q249H	ENST00000392452.2	37	c.747	CCDS3302.2	3	.	.	.	.	.	.	.	.	.	.	C	15.56	2.871018	0.51695	.	.	ENSG00000180611	ENST00000392452	T	0.08370	3.1	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.20861	0.0502	L	0.60455	1.87	0.58432	D	0.999999	D	0.65815	0.995	P	0.60789	0.879	T	0.00051	-1.2192	10	0.52906	T	0.07	.	12.0541	0.53524	0.0:0.9224:0.0:0.0776	.	249	Q8IYB1	M21D2_HUMAN	H	249	ENSP00000376246:Q249H	ENSP00000376246:Q249H	Q	-	3	2	MB21D2	193999598	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.892000	0.56235	2.652000	0.90054	0.655000	0.94253	CAG	MB21D2	-	pfam_Mab-21_dom		0.493	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	HGNC	protein_coding	OTTHUMT00000341543.1	C	NM_178496		192516904	-1	no_errors	ENST00000392452	ensembl	human	known	70_37	missense	SNP	1.000	G
MBL1P	8512	genome.wustl.edu	37	10	81664738	81664738	+	IGR	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr10:81664738C>T								NUTM2E (54106 upstream) : MBL1P (15195 downstream)																							CCCGGCGAGTCGGCGCGACAG	0.602																																																	0																																										SO:0001628	intergenic_variant	8512																															10.37:g.81664738C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		10																																																																																			MBL1P	-	-	0	0.602					MBL1P	HGNC			C			81664738	+1	no_errors	ENST00000453174	ensembl	human	known	70_37	rna	SNP	0.008	T
MECOM	2122	genome.wustl.edu	37	3	168833226	168833226	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:168833226C>G	ENST00000464456.1	-	7	3070	c.1870G>C	c.(1870-1872)Gat>Cat	p.D624H	MECOM_ENST00000433243.2_Missense_Mutation_p.D625H|MECOM_ENST00000392736.3_Missense_Mutation_p.D624H|MECOM_ENST00000468789.1_Missense_Mutation_p.D624H|MECOM_ENST00000494292.1_Missense_Mutation_p.D812H|MECOM_ENST00000460814.1_Missense_Mutation_p.D624H|MECOM_ENST00000264674.3_Missense_Mutation_p.D689H|MECOM_ENST00000472280.1_Missense_Mutation_p.D625H	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	33					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AAGGAACCATCTGAAGCAGGT	0.458																																																	0													107.0	98.0	101.0					3																	168833226		2203	4300	6503	SO:0001583	missense	2122			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1870G>C	3.37:g.168833226C>G	ENSP00000419770:p.Asp624His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13466|Q6FH90	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.D812H	ENST00000464456.1	37	c.2434	CCDS54669.1	3	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123472	0.56613	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000492586	T;T;T;T;T;T;T;T;T	0.07800	3.45;3.45;3.4;3.55;3.39;3.45;3.4;3.55;3.16	5.97	5.97	0.96955	.	0.078649	0.53938	D	0.000047	T	0.26412	0.0645	L	0.56769	1.78	0.58432	D	0.999999	D;D;D;D;D	0.67145	0.992;0.996;0.976;0.996;0.995	P;P;P;P;P	0.62813	0.907;0.873;0.713;0.873;0.806	T	0.00015	-1.2397	10	0.54805	T	0.06	-17.9229	20.4388	0.99107	0.0:1.0:0.0:0.0	.	812;625;812;689;624	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	H	689;624;624;625;812;624;624;625;275	ENSP00000264674:D689H;ENSP00000376493:D624H;ENSP00000419770:D624H;ENSP00000420048:D625H;ENSP00000417899:D812H;ENSP00000419995:D624H;ENSP00000420466:D624H;ENSP00000394302:D625H;ENSP00000417506:D275H	ENSP00000264674:D689H	D	-	1	0	MECOM	170315920	1.000000	0.71417	0.963000	0.40424	0.011000	0.07611	3.806000	0.55583	2.836000	0.97738	0.655000	0.94253	GAT	MECOM	-	NULL		0.458	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351519.1	C	NM_005241, NM_004991		168833226	-1	no_errors	ENST00000494292	ensembl	human	known	70_37	missense	SNP	0.998	G
MED12	9968	genome.wustl.edu	37	X	70341487	70341487	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:70341487C>G	ENST00000374080.3	+	7	954	c.922C>G	c.(922-924)Cag>Gag	p.Q308E	MED12_ENST00000333646.6_Missense_Mutation_p.Q308E|MED12_ENST00000374102.1_Missense_Mutation_p.Q308E			Q93074	MED12_HUMAN	mediator complex subunit 12	308					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ACTGGCCCTGCAGCTGGATGG	0.557			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													63.0	66.0	65.0					X																	70341487		2134	4232	6366	SO:0001583	missense	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.922C>G	X.37:g.70341487C>G	ENSP00000363193:p.Gln308Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.Q308E	ENST00000374080.3	37	c.922	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	.	15.19	2.759412	0.49468	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.64	5.64	0.86602	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.065710	0.64402	D	0.000006	T	0.36110	0.0955	L	0.36672	1.1	0.35575	D	0.805782	P;P;P;P	0.43885	0.646;0.82;0.757;0.696	B;B;P;P	0.46629	0.388;0.301;0.506;0.522	T	0.44697	-0.9311	10	0.87932	D	0	-13.6509	18.7005	0.91618	0.0:1.0:0.0:0.0	.	308;155;308;308	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	E	308;308;308;308;276	ENSP00000333125:Q308E;ENSP00000363215:Q308E;ENSP00000363193:Q308E;ENSP00000414203:Q276E	ENSP00000333125:Q308E	Q	+	1	0	MED12	70258212	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.358000	0.52284	2.615000	0.88500	0.597000	0.82753	CAG	MED12	-	pfam_Mediator_Med12_LCEWAV		0.557	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	C	NM_005120		70341487	+1	no_errors	ENST00000333646	ensembl	human	known	70_37	missense	SNP	1.000	G
MEMO1	51072	genome.wustl.edu	37	2	32093552	32093552	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:32093552C>G	ENST00000295065.5	-	9	1081	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	MEMO1_ENST00000490459.1_5'UTR|MEMO1_ENST00000379383.3_Missense_Mutation_p.E261Q|MEMO1_ENST00000426310.2_Missense_Mutation_p.E235Q|MEMO1_ENST00000404530.1_Missense_Mutation_p.E258Q|DPY30_ENST00000446765.1_5'UTR	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	258					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					TTCTGGAGCTCTGTGATAGCC	0.408																																																	0													26.0	26.0	26.0					2																	32093552		2203	4300	6503	SO:0001583	missense	51072			AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.772G>C	2.37:g.32093552C>G	ENSP00000295065:p.Glu258Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	pfam_UPF0103/Memo-related	p.E261Q	ENST00000295065.5	37	c.781	CCDS1776.1	2	.	.	.	.	.	.	.	.	.	.	C	11.74	1.730204	0.30684	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.49490	0.1560	L	0.44542	1.39	0.80722	D	1	B;P	0.42757	0.257;0.789	B;B	0.37780	0.092;0.258	T	0.45145	-0.9281	9	0.15499	T	0.54	-1.2791	18.7757	0.91911	0.0:1.0:0.0:0.0	.	235;258	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	Q	258;261;258;235	.	ENSP00000295065:E258Q	E	-	1	0	MEMO1	31947056	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.796000	0.69080	2.608000	0.88229	0.650000	0.86243	GAG	MEMO1	-	pfam_UPF0103/Memo-related		0.408	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEMO1	HGNC	protein_coding	OTTHUMT00000250251.2	C	NM_015955		32093552	-1	no_errors	ENST00000379383	ensembl	human	known	70_37	missense	SNP	1.000	G
METTL18	92342	genome.wustl.edu	37	1	169761916	169761916	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:169761916C>G	ENST00000310392.4	-	2	1274	c.921G>C	c.(919-921)caG>caC	p.Q307H	C1orf112_ENST00000456684.1_5'Flank|METTL18_ENST00000303469.2_Missense_Mutation_p.Q307H|C1orf112_ENST00000359326.4_5'Flank|C1orf112_ENST00000413811.2_5'Flank|C1orf112_ENST00000286031.6_5'Flank|C1orf112_ENST00000498289.1_Intron	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	307						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			kidney(1)|large_intestine(3)|lung(4)	8						TAAGGAAAGTCTGGTGCAAAT	0.353																																																	0													56.0	56.0	56.0					1																	169761916		2203	4300	6503	SO:0001583	missense	92342			AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"""histidine protein methyltransferase 1"""	615255	"""chromosome 1 open reading frame 156"""	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.921G>C	1.37:g.169761916C>G	ENSP00000307975:p.Gln307His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9T5	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom	p.Q307H	ENST00000310392.4	37	c.921	CCDS1284.1	1	.	.	.	.	.	.	.	.	.	.	C	8.156	0.788443	0.16258	.	.	ENSG00000171806	ENST00000310392;ENST00000303469	T;T	0.21361	2.01;2.01	6.17	-5.3	0.02738	.	0.486738	0.21043	N	0.081122	T	0.05686	0.0149	L	0.53249	1.67	0.09310	N	1	B	0.26672	0.156	B	0.29524	0.103	T	0.27839	-1.0062	10	0.48119	T	0.1	0.3276	5.3082	0.15815	0.1594:0.5048:0.0989:0.2369	.	307	O95568	MET18_HUMAN	H	307	ENSP00000307975:Q307H;ENSP00000307077:Q307H	ENSP00000307077:Q307H	Q	-	3	2	METTL18	168028540	0.228000	0.23718	0.048000	0.18961	0.379000	0.30106	-0.466000	0.06672	-0.872000	0.04037	-0.302000	0.09304	CAG	METTL18	-	pfam_Nicotinamide_N-MeTfrase-like		0.353	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL18	HGNC	protein_coding	OTTHUMT00000087109.1	C	NM_033418		169761916	-1	no_errors	ENST00000303469	ensembl	human	known	70_37	missense	SNP	0.022	G
MGRN1	23295	genome.wustl.edu	37	16	4731718	4731718	+	Silent	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr16:4731718C>T	ENST00000399577.5	+	13	1392	c.1299C>T	c.(1297-1299)atC>atT	p.I433I	MGRN1_ENST00000588994.1_Silent_p.I411I|MGRN1_ENST00000262370.7_Silent_p.I433I|MGRN1_ENST00000586183.1_Silent_p.I411I|MGRN1_ENST00000415496.1_Silent_p.I412I	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	433					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						TCGCGGCTATCGACCACATCC	0.652																																																	0													23.0	27.0	26.0					16																	4731718		2117	4222	6339	SO:0001819	synonymous_variant	23295			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.1299C>T	16.37:g.4731718C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4URL3|A4URL4|Q86W76	Silent	SNP	smart_Znf_RING,pfscan_Znf_RING	p.I433	ENST00000399577.5	37	c.1299	CCDS45402.1	16																																																																																			MGRN1	-	NULL		0.652	MGRN1-004	KNOWN	basic|CCDS	protein_coding	MGRN1	HGNC	protein_coding	OTTHUMT00000432060.2	C			4731718	+1	no_errors	ENST00000262370	ensembl	human	known	70_37	silent	SNP	0.000	T
MIB2	142678	genome.wustl.edu	37	1	1551903	1551903	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:1551903G>A	ENST00000357210.4	+	2	235	c.19G>A	c.(19-21)Gag>Aag	p.E7K	RP11-345P4.9_ENST00000607222.1_RNA|MIB2_ENST00000504599.1_5'UTR|MIB2_ENST00000355826.5_Missense_Mutation_p.E64K|MIB2_ENST00000360522.4_Missense_Mutation_p.E7K|MIB2_ENST00000518681.1_Missense_Mutation_p.E64K|MIB2_ENST00000378712.1_5'UTR|MIB2_ENST00000378710.3_Missense_Mutation_p.E7K|MIB2_ENST00000378708.1_5'Flank|MIB2_ENST00000520777.1_Missense_Mutation_p.E64K|MIB2_ENST00000505820.2_Missense_Mutation_p.E64K	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	7					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAAGCCCAGCGAGGCTAGAGG	0.697																																																	0													20.0	26.0	24.0					1																	1551903		1911	4137	6048	SO:0001583	missense	142678			AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.19G>A	1.37:g.1551903G>A	ENSP00000349741:p.Glu7Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	pfam_Mib_Herc2,pfam_Ankyrin_rpt,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt	p.E64K	ENST00000357210.4	37	c.190		1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471431	0.43942	.	.	ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820	T;T;T;T;T;T;T	0.35236	1.37;1.37;1.33;1.33;1.32;1.36;1.37	2.46	-2.97	0.05530	.	.	.	.	.	T	0.16041	0.0386	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.22487	-1.0215	9	0.30854	T	0.27	.	7.6899	0.28561	0.3391:0.0:0.6609:0.0	.	64;64;7;7	E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9	.;.;.;MIB2_HUMAN	K	64;7;7;7;64;64;64	ENSP00000428660:E64K;ENSP00000349741:E7K;ENSP00000353713:E7K;ENSP00000367982:E7K;ENSP00000348081:E64K;ENSP00000428264:E64K;ENSP00000426103:E64K	ENSP00000348081:E64K	E	+	1	0	MIB2	1541766	0.000000	0.05858	0.000000	0.03702	0.834000	0.47266	-1.237000	0.02922	-0.637000	0.05516	0.306000	0.20318	GAG	MIB2	-	NULL		0.697	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	MIB2	HGNC	protein_coding		G	NM_080875		1551903	+1	no_errors	ENST00000505820	ensembl	human	known	70_37	missense	SNP	0.000	A
MICALCL	84953	genome.wustl.edu	37	11	12348766	12348766	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:12348766C>T	ENST00000256186.2	+	6	1973	c.1682C>T	c.(1681-1683)tCt>tTt	p.S561F		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	561					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CAGAGGGCTTCTGAGATCCAG	0.577																																																	0													55.0	64.0	61.0					11																	12348766		2068	4103	6171	SO:0001583	missense	84953			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1682C>T	11.37:g.12348766C>T	ENSP00000256186:p.Ser561Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7RTP7|Q96JU6	Missense_Mutation	SNP	pfam_DUF3585,smart_Fertility_inhib_FinO/ProQ	p.S561F	ENST00000256186.2	37	c.1682	CCDS41620.1	11	.	.	.	.	.	.	.	.	.	.	C	1.308	-0.602854	0.03744	.	.	ENSG00000133808	ENST00000256186	T	0.40476	1.03	5.16	-0.464	0.12160	Domain of unknown function DUF3585 (1);	0.790714	0.09775	N	0.757516	T	0.32556	0.0833	L	0.36672	1.1	0.09310	N	1	B	0.21381	0.055	B	0.23852	0.049	T	0.30822	-0.9965	10	0.45353	T	0.12	.	9.8468	0.41032	0.0:0.403:0.0:0.597	.	561	Q6ZW33	MICLK_HUMAN	F	561	ENSP00000256186:S561F	ENSP00000256186:S561F	S	+	2	0	MICALCL	12305342	0.000000	0.05858	0.000000	0.03702	0.231000	0.25187	-0.054000	0.11826	-0.241000	0.09681	-0.136000	0.14681	TCT	MICALCL	-	pfam_DUF3585		0.577	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALCL	HGNC	protein_coding	OTTHUMT00000386164.1	C	NM_032867		12348766	+1	no_errors	ENST00000256186	ensembl	human	known	70_37	missense	SNP	0.000	T
KMT2C	58508	genome.wustl.edu	37	7	151917668	151917668	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr7:151917668G>A	ENST00000262189.6	-	23	3870	c.3652C>T	c.(3652-3654)Cag>Tag	p.Q1218*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q1218*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1218					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGAGGGGTCTGAAGGACGGCC	0.393																																																	0													79.0	75.0	76.0					7																	151917668		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3652C>T	7.37:g.151917668G>A	ENSP00000262189:p.Gln1218*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q1218*	ENST00000262189.6	37	c.3652	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	44	10.808691	0.99470	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.44	4.44	0.53790	.	0.000000	0.41605	U	0.000844	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	17.4147	0.87496	0.0:0.0:1.0:0.0	.	.	.	.	X	1218	.	ENSP00000262189:Q1218X	Q	-	1	0	MLL3	151548601	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.351000	0.97073	2.161000	0.67846	0.484000	0.47621	CAG	MLL3	-	NULL		0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151917668	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MPC1	51660	genome.wustl.edu	37	6	166778863	166778863	+	3'UTR	SNP	C	C	G	rs148611946		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr6:166778863C>G	ENST00000360961.6	-	0	505				MPC1_ENST00000487218.1_5'UTR|MPC1_ENST00000341756.6_3'UTR	NM_001270879.1|NM_016098.3	NP_001257808.1|NP_057182.1	Q9Y5U8	MPC1_HUMAN	mitochondrial pyruvate carrier 1						cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	pyruvate transmembrane transporter activity (GO:0050833)										ATCTGTGACTCAGCAGCAGCT	0.358																																																	0													182.0	156.0	164.0					6																	166778863		692	1591	2283	SO:0001624	3_prime_UTR_variant	51660			AF125101	CCDS5293.1, CCDS75547.1	6q27	2012-08-01	2012-07-30	2012-07-30	ENSG00000060762	ENSG00000060762			21606	protein-coding gene	gene with protein product		614738	"""brain protein 44-like"""	BRP44L		22628558	Standard	NM_016098		Approved	dJ68L15.3, CGI-129	uc031sra.1	Q9Y5U8	OTTHUMG00000015999	ENST00000360961.6:c.*54G>C	6.37:g.166778863C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5I7|Q5TI66|Q9HB67|Q9UQN4	RNA	SNP	-	NULL	ENST00000360961.6	37	NULL	CCDS5293.1	6																																																																																			MPC1	-	-		0.358	MPC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MPC1	HGNC	protein_coding	OTTHUMT00000043052.1	C	NM_016098		166778863	-1	no_errors	ENST00000475708	ensembl	human	known	70_37	rna	SNP	0.004	G
MXRA5	25878	genome.wustl.edu	37	X	3240795	3240795	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:3240795G>C	ENST00000217939.6	-	5	3085	c.2931C>G	c.(2929-2931)taC>taG	p.Y977*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	977						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGGGTCAAAGTATTGCATGG	0.498																																																	0													114.0	84.0	94.0					X																	3240795		2203	4300	6503	SO:0001587	stop_gained	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2931C>G	X.37:g.3240795G>C	ENSP00000217939:p.Tyr977*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P1M7|Q9Y3Y8	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Y977*	ENST00000217939.6	37	c.2931	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	g	37	6.634945	0.97722	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	.	.	.	3.33	0.561	0.17285	.	0.441295	0.16654	U	0.205113	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.0093	0.19567	0.7609:0.0:0.2391:0.0	.	.	.	.	X	977	.	ENSP00000217939:Y977X	Y	-	3	2	MXRA5	3250795	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.258000	0.18387	-0.003000	0.14444	0.529000	0.55759	TAC	MXRA5	-	NULL		0.498	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	G	NM_015419		3240795	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	nonsense	SNP	0.000	C
MYH1	4619	genome.wustl.edu	37	17	10406094	10406094	+	Silent	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:10406094C>T	ENST00000226207.5	-	24	3166	c.3072G>A	c.(3070-3072)ctG>ctA	p.L1024L	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1024					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TAGCTTTGGTCAGGGTGTTGA	0.408																																																	0													148.0	146.0	147.0					17																	10406094		2203	4298	6501	SO:0001819	synonymous_variant	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3072G>A	17.37:g.10406094C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CA4|Q9Y622	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1024	ENST00000226207.5	37	c.3072	CCDS11155.1	17																																																																																			MYH1	-	NULL		0.408	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	C	NM_005963		10406094	-1	no_errors	ENST00000226207	ensembl	human	known	70_37	silent	SNP	1.000	T
MYT1	4661	genome.wustl.edu	37	20	62848481	62848481	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr20:62848481G>T	ENST00000328439.1	+	11	2057	c.1693G>T	c.(1693-1695)Gcc>Tcc	p.A565S	MYT1_ENST00000536311.1_Missense_Mutation_p.A565S|MYT1_ENST00000360149.4_Missense_Mutation_p.A267S	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCCCAACGTGGCCCCCGCCAC	0.592																																					GBM(59;481 1041 20555 21139 33705)												0													73.0	69.0	71.0					20																	62848481		2203	4300	6503	SO:0001583	missense	4661			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1693G>T	20.37:g.62848481G>T	ENSP00000327465:p.Ala565Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.A565S	ENST00000328439.1	37	c.1693	CCDS13558.1	20	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250968	0.39797	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.52526	0.66;0.66;0.66	5.67	5.67	0.87782	Myelin transcription factor 1 (1);	0.134363	0.52532	D	0.000061	T	0.47040	0.1424	L	0.29908	0.895	0.33305	D	0.565379	P;B;B	0.52577	0.954;0.057;0.018	P;B;B	0.47705	0.555;0.158;0.021	T	0.54655	-0.8261	10	0.39692	T	0.17	-20.1724	19.773	0.96379	0.0:0.0:1.0:0.0	.	565;565;267	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	S	267;565;565	ENSP00000353269:A267S;ENSP00000327465:A565S;ENSP00000442412:A565S	ENSP00000327465:A565S	A	+	1	0	MYT1	62318925	1.000000	0.71417	0.771000	0.31576	0.760000	0.43138	3.226000	0.51254	2.677000	0.91161	0.655000	0.94253	GCC	MYT1	-	pfam_Myelin_TF		0.592	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1	G	NM_004535		62848481	+1	no_errors	ENST00000536311	ensembl	human	known	70_37	missense	SNP	1.000	T
NACAD	23148	genome.wustl.edu	37	7	45125617	45125617	+	Silent	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr7:45125617G>A	ENST00000490531.2	-	2	181	c.162C>T	c.(160-162)ctC>ctT	p.L54L		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	54					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						GCAGGAACGTGAGGGCCAGGT	0.746																																																	0													5.0	9.0	8.0					7																	45125617		667	1561	2228	SO:0001819	synonymous_variant	23148			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.162C>T	7.37:g.45125617G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx	p.L54	ENST00000490531.2	37	c.162	CCDS47582.1	7																																																																																			NACAD	-	NULL		0.746	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	HGNC	protein_coding	OTTHUMT00000353652.2	G	NM_001146334		45125617	-1	no_errors	ENST00000490531	ensembl	human	known	70_37	silent	SNP	0.001	A
NAT1	9	genome.wustl.edu	37	8	18080384	18080384	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr8:18080384G>C	ENST00000517492.1	+	3	1466	c.828G>C	c.(826-828)caG>caC	p.Q276H	NAT1_ENST00000541942.1_Missense_Mutation_p.Q276H|NAT1_ENST00000539092.1_Missense_Mutation_p.Q276H|NAT1_ENST00000545197.1_Missense_Mutation_p.Q338H|NAT1_ENST00000520546.1_Missense_Mutation_p.Q276H|NAT1_ENST00000535084.1_Missense_Mutation_p.Q276H|NAT1_ENST00000307719.4_Missense_Mutation_p.Q276H|NAT1_ENST00000518029.1_Missense_Mutation_p.Q276H			Q8IZM9	S38A6_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	0					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		TTTCCTTGCAGAGAAAGCTTG	0.318																																																	0													33.0	35.0	35.0					8																	18080384		2197	4299	6496	SO:0001583	missense	9			BC047666	CCDS6007.1, CCDS55205.1	8p22	2012-01-18			ENSG00000171428	ENSG00000171428	2.3.1.5		7645	protein-coding gene	gene with protein product		108345		AAC1		7773298	Standard	NM_001160174		Approved		uc003wyt.3	P18440	OTTHUMG00000097001	ENST00000517492.1:c.828G>C	8.37:g.18080384G>C	ENSP00000429407:p.Gln276His	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JWA6|Q86SY5	Missense_Mutation	SNP	pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase	p.Q338H	ENST00000517492.1	37	c.1014	CCDS6007.1	8	.	.	.	.	.	.	.	.	.	.	.	4.851	0.158216	0.09236	.	.	ENSG00000171428	ENST00000535084;ENST00000307719;ENST00000545197;ENST00000539092;ENST00000541942;ENST00000518029;ENST00000517492;ENST00000520546	T;T;T;T;T;T;T;T	0.01787	4.64;4.64;4.64;4.64;4.64;4.64;4.64;4.64	4.21	1.25	0.21368	.	0.380125	0.24041	N	0.042091	T	0.01124	0.0037	N	0.17082	0.46	0.09310	N	1	P;P	0.42161	0.772;0.561	B;B	0.37239	0.244;0.201	T	0.52124	-0.8617	10	0.45353	T	0.12	.	4.6559	0.12617	0.2001:0.1796:0.6203:0.0	.	338;276	F5H5R8;P18440	.;ARY1_HUMAN	H	276;276;338;276;276;276;276;276	ENSP00000444609:Q276H;ENSP00000307218:Q276H;ENSP00000443194:Q338H;ENSP00000440434:Q276H;ENSP00000440900:Q276H;ENSP00000428270:Q276H;ENSP00000429407:Q276H;ENSP00000429341:Q276H	ENSP00000307218:Q276H	Q	+	3	2	NAT1	18124664	0.988000	0.35896	0.002000	0.10522	0.330000	0.28571	0.311000	0.19380	0.021000	0.15133	0.460000	0.39030	CAG	NAT1	-	pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase		0.318	NAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NAT1	HGNC	protein_coding	OTTHUMT00000374828.1	G	NM_000662		18080384	+1	no_errors	ENST00000545197	ensembl	human	known	70_37	missense	SNP	0.003	C
NBPF20	100288142	genome.wustl.edu	37	1	148252752	148252752	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:148252752C>G	ENST00000369202.1	-	110	13797	c.13600G>C	c.(13600-13602)Gat>Cat	p.D4534H				Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	855						cytoplasm (GO:0005737)		p.D4534N(2)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						GGGTTTTGAtcttcttcccct	0.423																																																	2	Substitution - Missense(2)	endometrium(2)																																								SO:0001583	missense	100288142				CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.13600G>C	1.37:g.148252752C>G	ENSP00000358203:p.Asp4534His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_NBPF_dom	p.D4534H	ENST00000369202.1	37	c.13600		1	.	.	.	.	.	.	.	.	.	.	.	8.191	0.795915	0.16327	.	.	ENSG00000203832	ENST00000414231;ENST00000369202;ENST00000446099;ENST00000430395	T	0.10005	2.92	.	.	.	.	.	.	.	.	T	0.15912	0.0383	.	.	.	0.23598	N	0.997322	D;D;D	0.89917	0.987;1.0;0.987	D;D;D	0.97110	0.961;1.0;0.961	T	0.03673	-1.1014	5	0.87932	D	0	.	.	.	.	.	182;845;4534	B4DS78;Q8IX62;A2BH96	.;.;.	H	584;4534;87;182	ENSP00000358203:D4534H	ENSP00000358203:D4534H	D	-	1	0	NBPF20	146619376	0.021000	0.18746	0.044000	0.18714	0.045000	0.14185	0.346000	0.19997	0.159000	0.19401	0.162000	0.16502	GAT	NBPF20	-	pfam_NBPF_dom		0.423	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	NBPF20	HGNC	protein_coding	OTTHUMT00000100689.2	C			148252752	-1	no_errors	ENST00000369202	ensembl	human	known	70_37	missense	SNP	0.048	G
NEB	4703	genome.wustl.edu	37	2	152419320	152419320	+	Silent	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:152419320C>T	ENST00000172853.10	-	92	13740	c.13593G>A	c.(13591-13593)ttG>ttA	p.L4531L	NEB_ENST00000604864.1_Silent_p.L6232L|NEB_ENST00000603639.1_Silent_p.L6232L|NEB_ENST00000427231.2_Silent_p.L6232L|NEB_ENST00000409198.1_Silent_p.L4531L|NEB_ENST00000397345.3_Silent_p.L6232L			P20929	NEBU_HUMAN	nebulin	4531					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTGTAGTTCAACTAATATG	0.333																																																	0													92.0	78.0	82.0					2																	152419320		1844	4081	5925	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13593G>A	2.37:g.152419320C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.L6232	ENST00000172853.10	37	c.18696		2																																																																																			NEB	-	smart_Nebulin_35r-motif		0.333	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152419320	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	silent	SNP	1.000	T
NCL	4691	genome.wustl.edu	37	2	232326377	232326377	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:232326377C>T	ENST00000322723.4	-	3	727	c.487G>A	c.(487-489)Gag>Aag	p.E163K	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	163	Asp/Glu-rich (acidic).				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		tcctcatcctcgtcctcgtca	0.522																																																	0													470.0	289.0	350.0					2																	232326377		2203	4300	6503	SO:0001583	missense	4691				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.487G>A	2.37:g.232326377C>T	ENSP00000318195:p.Glu163Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.E163K	ENST00000322723.4	37	c.487	CCDS33397.1	2	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485002	0.63962	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000454824;ENST00000417652;ENST00000453992	T;T;T;T	0.25579	3.11;2.98;2.98;1.79	5.34	5.34	0.76211	.	0.430727	0.16094	U	0.229905	T	0.24470	0.0593	L	0.40543	1.245	0.35674	D	0.813514	D	0.56968	0.978	B	0.42625	0.393	T	0.27971	-1.0058	10	0.52906	T	0.07	.	13.5383	0.61659	0.1565:0.8435:0.0:0.0	.	163	P19338	NUCL_HUMAN	K	163;105;163;147;147;147	ENSP00000318195:E163K;ENSP00000401620:E147K;ENSP00000392747:E147K;ENSP00000413775:E147K	ENSP00000318195:E163K	E	-	1	0	NCL	232034621	0.306000	0.24490	0.064000	0.19789	0.029000	0.11900	2.575000	0.46025	2.511000	0.84671	0.555000	0.69702	GAG	NCL	-	NULL		0.522	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1	C	NM_005381		232326377	-1	no_errors	ENST00000322723	ensembl	human	known	70_37	missense	SNP	0.704	T
NPBWR1	2831	genome.wustl.edu	37	8	53852812	53852812	+	Silent	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr8:53852812C>T	ENST00000331251.3	+	1	1822	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	115					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TCGTGGCTATCGACCAGTACA	0.637																																																	0													50.0	44.0	46.0					8																	53852812		2203	4300	6503	SO:0001819	synonymous_variant	2831			BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.345C>T	8.37:g.53852812C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NTC7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt	p.I115	ENST00000331251.3	37	c.345	CCDS6151.1	8																																																																																			NPBWR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.637	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR1	HGNC	protein_coding	OTTHUMT00000378047.1	C	NM_005285		53852812	+1	no_errors	ENST00000331251	ensembl	human	known	70_37	silent	SNP	1.000	T
NSD1	64324	genome.wustl.edu	37	5	176687059	176687059	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr5:176687059C>A	ENST00000439151.2	+	14	5081	c.5036C>A	c.(5035-5037)tCa>tAa	p.S1679*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.S1410*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.S1576*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.S1410*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1679					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.S1679*(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCTGCTGGGTCAAAGATCCTT	0.498			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	2	Substitution - Nonsense(2)	cervix(2)											128.0	117.0	121.0					5																	176687059		2203	4300	6503	SO:0001587	stop_gained	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5036C>A	5.37:g.176687059C>A	ENSP00000395929:p.Ser1679*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PD8|Q96RN7	Nonsense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.S1679*	ENST00000439151.2	37	c.5036	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	C	44	11.050354	0.99508	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.51	5.51	0.81932	.	0.000000	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.783	0.96424	0.0:1.0:0.0:0.0	.	.	.	.	X	1410;1679;1410;1576	.	ENSP00000343209:S1410X	S	+	2	0	NSD1	176619665	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.281000	0.72632	2.752000	0.94435	0.467000	0.42956	TCA	NSD1	-	smart_Znf_PHD		0.498	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	C	NM_172349		176687059	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	nonsense	SNP	1.000	A
OPRM1	4988	genome.wustl.edu	37	6	154414441	154414441	+	Intron	SNP	G	G	C	rs199942335		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr6:154414441G>C	ENST00000330432.7	+	3	1401				OPRM1_ENST00000452687.2_Intron|OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000419506.2_Intron|OPRM1_ENST00000414028.2_Intron|OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000229768.5_Missense_Mutation_p.E401Q|OPRM1_ENST00000360422.4_Intron|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000435918.2_Intron|OPRM1_ENST00000524163.1_Intron|OPRM1_ENST00000434900.2_Intron	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1						adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CTGGGCTCTAGAGCAAGGCTG	0.463																																																	0								G	,,,,,,,,,,,GLN/GLU	1,3921		0,1,1960	222.0	212.0	215.0		,,,,,,,,,,,1201	2.7	0.0	6		215	0,8316		0,0,4158	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense	OPRM1	NM_000914.3,NM_001008503.1,NM_001145279.2,NM_001145280.2,NM_001145281.1,NM_001145282.1,NM_001145283.1,NM_001145284.2,NM_001145285.1,NM_001145286.1,NM_001145287.1,NM_001008505.1	,,,,,,,,,,,29	0,1,6118	CC,CG,GG		0.0,0.0255,0.0082	,,,,,,,,,,,benign	,,,,,,,,,,,401/447	154414441	1,12237	1961	4158	6119	SO:0001627	intron_variant	4988			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1164+1834G>C	6.37:g.154414441G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_P2_purnocptor,prints_NPY_rcpt	p.E401Q	ENST00000330432.7	37	c.1201	CCDS55070.1	6	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285010	0.23392	2.55E-4	0.0	ENSG00000112038	ENST00000229768	T	0.71103	-0.54	3.58	2.7	0.31948	.	.	.	.	.	T	0.17492	0.0420	.	.	.	0.09310	N	0.999997	B	0.25105	0.118	B	0.15052	0.012	T	0.34304	-0.9834	8	0.02654	T	1	.	6.8726	0.24129	0.1268:0.0:0.8732:0.0	.	401	P35372-3	.	Q	401	ENSP00000229768:E401Q	ENSP00000229768:E401Q	E	+	1	0	OPRM1	154456134	0.002000	0.14202	0.005000	0.12908	0.007000	0.05969	0.841000	0.27613	1.093000	0.41377	0.655000	0.94253	GAG	OPRM1	-	NULL		0.463	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	HGNC	protein_coding	OTTHUMT00000042786.2	G	NM_000914		154414441	+1	no_errors	ENST00000229768	ensembl	human	known	70_37	missense	SNP	0.004	C
OR13D1	286365	genome.wustl.edu	37	9	107457367	107457367	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr9:107457367C>G	ENST00000318763.5	+	1	708	c.665C>G	c.(664-666)tCa>tGa	p.S222*		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CTTGTTTGTTCAGATATCACC	0.343																																																	0													182.0	175.0	177.0					9																	107457367		2203	4300	6503	SO:0001587	stop_gained	286365				CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.665C>G	9.37:g.107457367C>G	ENSP00000317357:p.Ser222*	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIS1|Q6IFL1	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.S222*	ENST00000318763.5	37	c.665	CCDS35094.1	9	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334032	0.41297	.	.	ENSG00000179055	ENST00000318763	.	.	.	3.87	1.89	0.25635	.	0.662605	0.11101	U	0.599690	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	6.6773	0.23102	0.0:0.7026:0.1863:0.1111	.	.	.	.	X	222	.	ENSP00000317357:S222X	S	+	2	0	OR13D1	106497188	0.000000	0.05858	0.827000	0.32855	0.502000	0.33828	0.168000	0.16622	1.979000	0.57680	0.511000	0.50034	TCA	OR13D1	-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.343	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13D1	HGNC	protein_coding	OTTHUMT00000053483.1	C			107457367	+1	no_errors	ENST00000318763	ensembl	human	known	70_37	nonsense	SNP	0.201	G
OR2D3	120775	genome.wustl.edu	37	11	6942995	6942995	+	Missense_Mutation	SNP	T	T	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:6942995T>G	ENST00000317834.3	+	1	791	c.763T>G	c.(763-765)Tcc>Gcc	p.S255A		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAAGGCTTTTTCCACCTGTGG	0.453																																																	0													127.0	119.0	122.0					11																	6942995		2201	4296	6497	SO:0001583	missense	120775			BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.763T>G	11.37:g.6942995T>G	ENSP00000320560:p.Ser255Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S255A	ENST00000317834.3	37	c.763	CCDS31417.1	11	.	.	.	.	.	.	.	.	.	.	T	14.96	2.691264	0.48097	.	.	ENSG00000178358	ENST00000317834	T	0.00299	8.22	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000699	T	0.00440	0.0014	M	0.82056	2.57	0.09310	N	1	P	0.39424	0.673	P	0.46275	0.51	T	0.34304	-0.9834	10	0.66056	D	0.02	-30.414	13.3025	0.60334	0.0:0.0:0.0:1.0	.	255	Q8NGH3	OR2D3_HUMAN	A	255	ENSP00000320560:S255A	ENSP00000320560:S255A	S	+	1	0	OR2D3	6899571	0.004000	0.15560	0.298000	0.25002	0.949000	0.60115	1.192000	0.32150	2.310000	0.77875	0.533000	0.62120	TCC	OR2D3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.453	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2D3	HGNC	protein_coding	OTTHUMT00000385987.1	T	NM_001004684		6942995	+1	no_errors	ENST00000317834	ensembl	human	known	70_37	missense	SNP	0.037	G
PACS1	55690	genome.wustl.edu	37	11	65983654	65983654	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:65983654C>G	ENST00000320580.4	+	5	758	c.725C>G	c.(724-726)tCt>tGt	p.S242C		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	242					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						AAGGATGTCTCTGTGCCTGTG	0.512																																																	0													122.0	100.0	108.0					11																	65983654		2201	4295	6496	SO:0001583	missense	55690			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.725C>G	11.37:g.65983654C>G	ENSP00000316454:p.Ser242Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	pfam_Phosphofurin_acidic_CS-1	p.S242C	ENST00000320580.4	37	c.725	CCDS8129.1	11	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558237	0.86231	.	.	ENSG00000175115	ENST00000320580;ENST00000527380	T	0.25749	1.78	5.41	5.41	0.78517	.	0.348650	0.33834	N	0.004510	T	0.47210	0.1433	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.983;0.999	P;D	0.69479	0.707;0.964	T	0.30031	-0.9992	10	0.56958	D	0.05	-19.1147	18.1384	0.89630	0.0:1.0:0.0:0.0	.	242;242	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	C	242;144	ENSP00000316454:S242C	ENSP00000316454:S242C	S	+	2	0	PACS1	65740230	0.827000	0.29292	0.927000	0.36925	0.904000	0.53231	5.706000	0.68362	2.826000	0.97356	0.561000	0.74099	TCT	PACS1	-	NULL		0.512	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PACS1	HGNC	protein_coding	OTTHUMT00000391690.2	C	NM_018026		65983654	+1	no_errors	ENST00000320580	ensembl	human	known	70_37	missense	SNP	1.000	G
PARD6G	84552	genome.wustl.edu	37	18	77918347	77918347	+	Silent	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr18:77918347G>A	ENST00000353265.3	-	3	635	c.438C>T	c.(436-438)atC>atT	p.I146I	AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000586421.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	146	Interaction with PARD3 and CDC42. {ECO:0000250}.|Pseudo-CRIB.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CCACATCGATGATGGATGATA	0.716																																																	0													23.0	19.0	21.0					18																	77918347		2180	4277	6457	SO:0001819	synonymous_variant	84552				CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"""par-6 (partitioning defective 6, C.elegans) homolog gamma"", ""par-6 partitioning defective 6 homolog gamma (C. elegans)"""			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.438C>T	18.37:g.77918347G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8QM57	Silent	SNP	pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ	p.I146	ENST00000353265.3	37	c.438	CCDS12022.1	18																																																																																			PARD6G	-	superfamily_PDZ		0.716	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARD6G	HGNC	protein_coding	OTTHUMT00000256435.2	G	NM_032510		77918347	-1	no_errors	ENST00000353265	ensembl	human	known	70_37	silent	SNP	1.000	A
PCDHGB3	56102	genome.wustl.edu	37	5	140806704	140806704	+	Intron	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr5:140806704G>A	ENST00000576222.1	+	1	2546				PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGB6_ENST00000520790.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTACGAGATGATATTGGAAA	0.428																																																	0																																										SO:0001627	intron_variant	56120			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+54328G>A	5.37:g.140806704G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E229|Q9Y5C7	RNA	SNP	-	NULL	ENST00000576222.1	37	NULL	CCDS58980.1	5																																																																																			PCDHGB8P	-	-		0.428	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB8P	HGNC	protein_coding	OTTHUMT00000437094.1	G	NM_018924		140806704	+1	no_errors	ENST00000502926	ensembl	human	known	70_37	rna	SNP	0.000	A
PDE12	201626	genome.wustl.edu	37	3	57543266	57543266	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:57543266G>A	ENST00000311180.8	+	1	1263	c.1160G>A	c.(1159-1161)cGa>cAa	p.R387Q	PDE12_ENST00000487257.1_Missense_Mutation_p.R387Q	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	387					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		ACTTTCTACCGAAAGTCTAAG	0.527																																					Colon(125;308 1634 19198 50622 50717)												0													51.0	53.0	53.0					3																	57543266		2203	4300	6503	SO:0001583	missense	201626			AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1160G>A	3.37:g.57543266G>A	ENSP00000309142:p.Arg387Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.R387Q	ENST00000311180.8	37	c.1160	CCDS33772.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.237176	0.95240	.	.	ENSG00000174840	ENST00000487257;ENST00000311180	D;D	0.84146	-1.81;-1.81	5.56	5.56	0.83823	Endonuclease/exonuclease/phosphatase (2);	0.052289	0.85682	D	0.000000	D	0.93301	0.7865	M	0.85542	2.76	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.921	D	0.93688	0.7004	10	0.66056	D	0.02	-8.2142	19.5261	0.95208	0.0:0.0:1.0:0.0	.	387;387	Q6L8Q7;F6T1Q0	PDE12_HUMAN;.	Q	387	ENSP00000420626:R387Q;ENSP00000309142:R387Q	ENSP00000309142:R387Q	R	+	2	0	PDE12	57518306	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	9.384000	0.97219	2.632000	0.89209	0.655000	0.94253	CGA	PDE12	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.527	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE12	HGNC	protein_coding	OTTHUMT00000351440.2	G	NM_177966		57543266	+1	no_errors	ENST00000311180	ensembl	human	known	70_37	missense	SNP	1.000	A
PKD1	5310	genome.wustl.edu	37	16	2159612	2159612	+	Silent	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr16:2159612G>A	ENST00000262304.4	-	15	5764	c.5556C>T	c.(5554-5556)gtC>gtT	p.V1852V	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.V1852V	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1852	PKD 14. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGACCATGGTGACATGAGGGC	0.657																																																	0													17.0	14.0	15.0					16																	2159612		2171	4278	6449	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.5556C>T	16.37:g.2159612G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.V1852	ENST00000262304.4	37	c.5556	CCDS32369.1	16																																																																																			PKD1	-	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat		0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2159612	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	silent	SNP	0.000	A
PDXDC1	23042	genome.wustl.edu	37	16	15230482	15230482	+	Intron	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr16:15230482C>T	ENST00000535621.2	+	17	1587							Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1						carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATTGCCAGGGCGGCCCCGGCC	0.706																																																	0																																										SO:0001627	intron_variant	353511			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000535621.2:c.1400-2254C>T	16.37:g.15230482C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	RNA	SNP	-	NULL	ENST00000535621.2	37	NULL		16																																																																																			PKD1P6	-	-		0.706	PDXDC1-016	PUTATIVE	basic	protein_coding	PKD1P6	HGNC	protein_coding	OTTHUMT00000422421.1	C	NM_015027		15230482	-1	no_errors	ENST00000538100	ensembl	human	known	70_37	rna	SNP	0.871	T
PKDREJ	10343	genome.wustl.edu	37	22	46654350	46654350	+	Silent	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr22:46654350G>A	ENST00000253255.5	-	1	4869	c.4870C>T	c.(4870-4872)Ctg>Ttg	p.L1624L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1624					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGCTGCACCAGAAGAACTGAC	0.368																																																	0													81.0	79.0	80.0					22																	46654350		2203	4300	6503	SO:0001819	synonymous_variant	10343			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4870C>T	22.37:g.46654350G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AJY3|O95850	Silent	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_2,pfscan_LipOase_LH2,pfscan_REJ-like	p.L1624	ENST00000253255.5	37	c.4870	CCDS14073.1	22																																																																																			PKDREJ	-	NULL		0.368	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1	G	NM_006071		46654350	-1	no_errors	ENST00000253255	ensembl	human	known	70_37	silent	SNP	0.012	A
PKDREJ	10343	genome.wustl.edu	37	22	46654366	46654366	+	Silent	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr22:46654366G>A	ENST00000253255.5	-	1	4853	c.4854C>T	c.(4852-4854)ttC>ttT	p.F1618F		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1618					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTGACTGACAGAATGAACAAA	0.383																																																	0													87.0	83.0	85.0					22																	46654366		2203	4300	6503	SO:0001819	synonymous_variant	10343			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4854C>T	22.37:g.46654366G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AJY3|O95850	Silent	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_2,pfscan_LipOase_LH2,pfscan_REJ-like	p.F1618	ENST00000253255.5	37	c.4854	CCDS14073.1	22																																																																																			PKDREJ	-	NULL		0.383	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1	G	NM_006071		46654366	-1	no_errors	ENST00000253255	ensembl	human	known	70_37	silent	SNP	0.005	A
PLA2R1	22925	genome.wustl.edu	37	2	160885430	160885430	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:160885430G>C	ENST00000283243.7	-	5	1092	c.886C>G	c.(886-888)Cag>Gag	p.Q296E	PLA2R1_ENST00000392771.1_Missense_Mutation_p.Q296E	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	296	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TCATCCAGCTGATTGAGGCCC	0.468																																																	0													119.0	94.0	102.0					2																	160885430		2203	4300	6503	SO:0001583	missense	22925			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.886C>G	2.37:g.160885430G>C	ENSP00000283243:p.Gln296Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.Q296E	ENST00000283243.7	37	c.886	CCDS33309.1	2	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235394	0.58886	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.16897	2.31;2.31	5.83	5.83	0.93111	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.118542	0.64402	D	0.000018	T	0.39172	0.1068	M	0.66939	2.045	0.47037	D	0.999291	D;D;D	0.58620	0.973;0.974;0.983	P;P;P	0.62885	0.908;0.84;0.872	T	0.01242	-1.1408	10	0.27785	T	0.31	.	18.8909	0.92403	0.0:0.0:1.0:0.0	.	296;296;296	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	E	296	ENSP00000283243:Q296E;ENSP00000376524:Q296E	ENSP00000283243:Q296E	Q	-	1	0	PLA2R1	160593676	1.000000	0.71417	0.999000	0.59377	0.107000	0.19398	2.531000	0.45650	2.759000	0.94783	0.650000	0.86243	CAG	PLA2R1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.468	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2R1	HGNC	protein_coding	OTTHUMT00000333820.1	G			160885430	-1	no_errors	ENST00000283243	ensembl	human	known	70_37	missense	SNP	1.000	C
C10orf55	414236	genome.wustl.edu	37	10	75673834	75673834	+	Intron	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr10:75673834C>T	ENST00000409178.1	-	3	268				PLAU_ENST00000372762.4_Silent_p.L223L|PLAU_ENST00000446342.1_Silent_p.L242L|PLAU_ENST00000372764.3_Silent_p.L259L|C10orf55_ENST00000412307.2_Intron	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					TGGAAAACCTCATCCTACACA	0.532																																																	0													106.0	82.0	90.0					10																	75673834		2203	4300	6503	SO:0001627	intron_variant	5328				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-1001G>A	10.37:g.75673834C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KRG4|Q8NAK4	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L259	ENST00000409178.1	37	c.777	CCDS53541.1	10																																																																																			PLAU	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.532	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAU	HGNC	protein_coding	OTTHUMT00000048746.1	C	NM_001001791		75673834	+1	no_errors	ENST00000372764	ensembl	human	known	70_37	silent	SNP	0.988	T
PNMA1	9240	genome.wustl.edu	37	14	74180160	74180160	+	Silent	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr14:74180160C>T	ENST00000316836.3	-	1	968	c.183G>A	c.(181-183)gcG>gcA	p.A61A		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	61					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		aggctgctttcgcattttctt	0.542																																																	0													136.0	142.0	140.0					14																	74180160		2203	4300	6503	SO:0001819	synonymous_variant	9240			AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"""Paraneoplastic Ma antigens"""	9158	protein-coding gene	gene with protein product		604010	"""paraneoplastic antigen MA1"""			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.183G>A	14.37:g.74180160C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4L5|O95144|Q8NG07	Silent	SNP	superfamily_Globin-like	p.A61	ENST00000316836.3	37	c.183	CCDS9818.1	14																																																																																			PNMA1	-	NULL		0.542	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA1	HGNC	protein_coding	OTTHUMT00000402774.1	C	NM_006029		74180160	-1	no_errors	ENST00000316836	ensembl	human	known	70_37	silent	SNP	0.994	T
POLR2A	5430	genome.wustl.edu	37	17	7401106	7401106	+	Silent	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:7401106C>G	ENST00000322644.6	+	7	1518	c.1119C>G	c.(1117-1119)ctC>ctG	p.L373L	POLR2A_ENST00000572844.1_Silent_p.L373L	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	373					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACCCCAACCTCTCCATTGACC	0.592																																																	0													141.0	131.0	134.0					17																	7401106		2203	4300	6503	SO:0001819	synonymous_variant	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.1119C>G	17.37:g.7401106C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NN93|B9EH88|Q6NX41	Silent	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.L373	ENST00000322644.6	37	c.1119	CCDS32548.1	17																																																																																			POLR2A	-	pfam_RNA_pol_asu,smart_RNA_pol_N		0.592	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	C	NM_000937		7401106	+1	no_errors	ENST00000322644	ensembl	human	known	70_37	silent	SNP	0.982	G
PPL	5493	genome.wustl.edu	37	16	4960929	4960929	+	Silent	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr16:4960929C>T	ENST00000345988.2	-	2	173	c.84G>A	c.(82-84)tcG>tcA	p.S28S	PPL_ENST00000590782.2_Silent_p.S28S	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	28					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CGATCAGCTCCGAGAGCTCCT	0.622																																																	0													103.0	73.0	83.0					16																	4960929		2197	4300	6497	SO:0001819	synonymous_variant	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.84G>A	16.37:g.4960929C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O60314|O60454|Q14C98	Silent	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.S28	ENST00000345988.2	37	c.84	CCDS10526.1	16																																																																																			PPL	-	NULL		0.622	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	C	NM_002705		4960929	-1	no_errors	ENST00000345988	ensembl	human	known	70_37	silent	SNP	0.977	T
PRAMEF7	441871	genome.wustl.edu	37	1	12979858	12979858	+	Silent	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:12979858G>A	ENST00000361079.2	+	4	1133	c.1050G>A	c.(1048-1050)ctG>ctA	p.L350L	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	350					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCACCCTGCAGACCCTGG	0.592																																																	0													37.0	33.0	34.0					1																	12979858		1524	3185	4709	SO:0001819	synonymous_variant	441871				CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"""-"""	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1050G>A	1.37:g.12979858G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIP0	Silent	SNP	NULL	p.L350	ENST00000361079.2	37	c.1050	CCDS30593.1	1																																																																																			PRAMEF7	-	NULL		0.592	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF7	HGNC	protein_coding		G	NM_001012277		12979858	+1	no_errors	ENST00000330881	ensembl	human	known	70_37	silent	SNP	0.493	A
PRKAA2	5563	genome.wustl.edu	37	1	57158046	57158046	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:57158046G>A	ENST00000371244.4	+	4	412	c.346G>A	c.(346-348)Gcc>Acc	p.A116T		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	116	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	AGAGATGGAAGCCAGGCGGCT	0.493																																																	0													168.0	163.0	165.0					1																	57158046		2203	4300	6503	SO:0001583	missense	5563			BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.346G>A	1.37:g.57158046G>A	ENSP00000360290:p.Ala116Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H1E8|Q9UD43	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A116T	ENST00000371244.4	37	c.346	CCDS605.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.123694	0.94429	.	.	ENSG00000162409	ENST00000371244	T	0.68025	-0.3	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049701	0.85682	D	0.000000	T	0.80325	0.4602	M	0.67625	2.065	0.80722	D	1	D	0.67145	0.996	D	0.64237	0.923	T	0.82112	-0.0618	10	0.87932	D	0	-18.1428	19.2667	0.93990	0.0:0.0:1.0:0.0	.	116	P54646	AAPK2_HUMAN	T	116	ENSP00000360290:A116T	ENSP00000360290:A116T	A	+	1	0	PRKAA2	56930634	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	5.436000	0.66538	2.553000	0.86117	0.585000	0.79938	GCC	PRKAA2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.493	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA2	HGNC	protein_coding	OTTHUMT00000022753.2	G	NM_006252		57158046	+1	no_errors	ENST00000371244	ensembl	human	known	70_37	missense	SNP	1.000	A
PPP1R12B	4660	genome.wustl.edu	37	1	202550187	202550187	+	3'UTR	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:202550187G>C	ENST00000608999.1	+	0	3601				PPP1R12B_ENST00000367270.4_3'UTR|PPP1R12B_ENST00000391959.3_3'UTR|PPP1R12B_ENST00000336894.4_3'UTR|PPP1R12B_ENST00000290419.5_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			ATGCCCTCTGGAATGGTTAGC	0.458																																																	0																																										SO:0001624	3_prime_UTR_variant	4660			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.*499G>C	1.37:g.202550187G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	RNA	SNP	-	NULL	ENST00000608999.1	37	NULL	CCDS1426.1	1																																																																																			PPP1R12B	-	-		0.458	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3	G	NM_032105		202550187	+1	no_errors	ENST00000290419	ensembl	human	known	70_37	rna	SNP	0.000	C
PRKCI	5584	genome.wustl.edu	37	3	169998171	169998171	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:169998171G>C	ENST00000295797.4	+	9	1167	c.862G>C	c.(862-864)Gag>Cag	p.E288Q		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	288	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	TGTGAAAAAAGAGCTTGTTAA	0.333																																																	0													76.0	76.0	76.0					3																	169998171		2203	4300	6503	SO:0001583	missense	5584				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.862G>C	3.37:g.169998171G>C	ENSP00000295797:p.Glu288Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNQ4|Q8WW06	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.E288Q	ENST00000295797.4	37	c.862	CCDS3212.2	3	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017155	0.93404	.	.	ENSG00000163558	ENST00000295797	T	0.66280	-0.2	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61887	0.2383	N	0.17312	0.475	0.80722	D	1	D	0.58620	0.983	P	0.54965	0.765	T	0.58239	-0.7671	9	.	.	.	.	20.3472	0.98799	0.0:0.0:1.0:0.0	.	288	P41743	KPCI_HUMAN	Q	288	ENSP00000295797:E288Q	.	E	+	1	0	PRKCI	171480865	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.459000	0.97638	2.890000	0.99128	0.650000	0.86243	GAG	PRKCI	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_PKC_zeta,pfscan_Prot_kinase_cat_dom		0.333	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCI	HGNC	protein_coding	OTTHUMT00000316866.3	G	NM_002740		169998171	+1	no_errors	ENST00000295797	ensembl	human	known	70_37	missense	SNP	1.000	C
PSMB2	5690	genome.wustl.edu	37	1	36107024	36107024	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:36107024G>A	ENST00000373237.3	-	1	421	c.10C>T	c.(10-12)Ctc>Ttc	p.L4F		NM_002794.4	NP_002785.1	P49721	PSB2_HUMAN	proteasome (prosome, macropain) subunit, beta type, 2	4					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)|Carfilzomib(DB08889)	ATACCGATGAGGTACTCCATG	0.622																																																	0													44.0	42.0	43.0					1																	36107024		2203	4300	6503	SO:0001583	missense	5690			D26599	CCDS394.1, CCDS72755.1	1p34.2	2008-02-05			ENSG00000126067	ENSG00000126067		"""Proteasome (prosome, macropain) subunits"""	9539	protein-coding gene	gene with protein product		602175				7918633	Standard	NM_002794		Approved	HC7-I	uc001bzf.2	P49721	OTTHUMG00000004169	ENST00000373237.3:c.10C>T	1.37:g.36107024G>A	ENSP00000362334:p.Leu4Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPS0|P31145|Q9BWZ9	Missense_Mutation	SNP	pfam_Proteasome_sua/b	p.L4F	ENST00000373237.3	37	c.10	CCDS394.1	1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622867	0.87460	.	.	ENSG00000126067	ENST00000373237	T	0.26518	1.73	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.59059	0.2166	M	0.85710	2.77	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79108	0.966;0.981;0.992	T	0.62388	-0.6865	10	0.72032	D	0.01	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	4;4;36	B7Z478;P49721;Q59FJ0	.;PSB2_HUMAN;.	F	4	ENSP00000362334:L4F	ENSP00000362334:L4F	L	-	1	0	PSMB2	35879611	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	5.208000	0.65203	2.804000	0.96469	0.655000	0.94253	CTC	PSMB2	-	NULL		0.622	PSMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB2	HGNC	protein_coding	OTTHUMT00000012016.1	G	NM_002794		36107024	-1	no_errors	ENST00000373237	ensembl	human	known	70_37	missense	SNP	1.000	A
PTGFRN	5738	genome.wustl.edu	37	1	117509918	117509918	+	Silent	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:117509918C>T	ENST00000393203.2	+	6	2172	c.2025C>T	c.(2023-2025)ctC>ctT	p.L675L	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	675					lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CAACCAGTCTCTCCAATCCTA	0.537																																																	0													52.0	53.0	52.0					1																	117509918		2203	4300	6503	SO:0001819	synonymous_variant	5738			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2025C>T	1.37:g.117509918C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVU9|Q8N2K6	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L675	ENST00000393203.2	37	c.2025	CCDS890.1	1																																																																																			PTGFRN	-	smart_Ig_sub		0.537	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFRN	HGNC	protein_coding	OTTHUMT00000033271.1	C	NM_020440		117509918	+1	no_errors	ENST00000393203	ensembl	human	known	70_37	silent	SNP	0.988	T
PTPN4	5775	genome.wustl.edu	37	2	120702805	120702805	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:120702805G>A	ENST00000263708.2	+	16	2275	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	PTPN4_ENST00000544261.1_Missense_Mutation_p.E135K	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	502					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATCTTCTCCTGAAAAACCCAC	0.289																																																	0													59.0	61.0	60.0					2																	120702805		2203	4300	6503	SO:0001583	missense	5775				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1504G>A	2.37:g.120702805G>A	ENSP00000263708:p.Glu502Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBV8|Q9UDA7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E502K	ENST00000263708.2	37	c.1504	CCDS2129.1	2	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450106	0.63290	.	.	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	T;T;T	0.71817	-0.6;2.94;0.91	5.47	5.47	0.80525	.	0.217074	0.48767	D	0.000164	T	0.67002	0.2847	L	0.54323	1.7	0.52099	D	0.99994	B	0.30482	0.281	B	0.24848	0.056	T	0.63116	-0.6709	10	0.26408	T	0.33	.	19.6888	0.95989	0.0:0.0:1.0:0.0	.	502	P29074	PTN4_HUMAN	K	502;135;128	ENSP00000263708:E502K;ENSP00000445841:E135K;ENSP00000387457:E128K	ENSP00000263708:E502K	E	+	1	0	PTPN4	120419275	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.082000	0.89513	2.715000	0.92844	0.655000	0.94253	GAA	PTPN4	-	pirsf_Tyr_Pase_non-rcpt_typ-3/4		0.289	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN4	HGNC	protein_coding	OTTHUMT00000254233.2	G			120702805	+1	no_errors	ENST00000263708	ensembl	human	known	70_37	missense	SNP	1.000	A
PZP	5858	genome.wustl.edu	37	12	9346779	9346779	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:9346779G>A	ENST00000261336.2	-	11	1176	c.1148C>T	c.(1147-1149)tCt>tTt	p.S383F	PZP_ENST00000381997.2_Missense_Mutation_p.S252F	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	383					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GTCATTCACAGAGATGAAGAA	0.403																																					Melanoma(125;1402 1695 4685 34487 38571)												0													179.0	168.0	172.0					12																	9346779		2203	4300	6503	SO:0001583	missense	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1148C>T	12.37:g.9346779G>A	ENSP00000261336:p.Ser383Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.S383F	ENST00000261336.2	37	c.1148	CCDS8600.1	12	.	.	.	.	.	.	.	.	.	.	G	0.155	-1.087026	0.01873	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.35789	1.48;1.29	3.53	0.252	0.15545	.	0.409870	0.20333	U	0.094385	T	0.23572	0.0570	L	0.41710	1.295	0.09310	N	1	B;B	0.33413	0.411;0.086	B;B	0.37144	0.242;0.035	T	0.25882	-1.0119	10	0.09590	T	0.72	.	6.1874	0.20506	0.0:0.1817:0.4459:0.3725	.	252;383	P20742-2;P20742	.;PZP_HUMAN	F	383;252	ENSP00000261336:S383F;ENSP00000371427:S252F	ENSP00000261336:S383F	S	-	2	0	PZP	9238046	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-0.879000	0.04188	-0.064000	0.13043	0.557000	0.71058	TCT	PZP	-	NULL		0.403	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	G	NM_002864		9346779	-1	no_errors	ENST00000261336	ensembl	human	known	70_37	missense	SNP	0.000	A
RBM3	5935	genome.wustl.edu	37	X	48433775	48433775	+	Intron	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:48433775C>T	ENST00000376759.3	+	2	166				RBM3_ENST00000354480.2_5'Flank|RBM3_ENST00000430348.2_Intron|AC115618.1_ENST00000376775.2_5'Flank|RBM3_ENST00000466764.1_Intron|RBM3_ENST00000376755.1_Intron	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3						positive regulation of translation (GO:0045727)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of translation (GO:0006417)|response to cold (GO:0009409)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						CCTCCAAATTCTTTTTCTTCC	0.478											OREG0019765	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	5935			BC006825	CCDS14301.1	Xp11.2	2014-05-19	2004-04-23		ENSG00000102317	ENSG00000102317		"""RNA binding motif (RRM) containing"""	9900	protein-coding gene	gene with protein product		300027	"""RNA binding motif protein 3"""			8634703	Standard	NM_006743		Approved	IS1-RNPL	uc004dkf.2	P98179	OTTHUMG00000024121	ENST00000376759.3:c.103+104C>T	X.37:g.48433775C>T		Somatic	954	WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000376759.3	37	NULL	CCDS14301.1	X																																																																																			RBM3	-	-		0.478	RBM3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM3	HGNC	protein_coding	OTTHUMT00000060755.1	C	NM_006743		48433775	+1	no_errors	ENST00000491240	ensembl	human	known	70_37	rna	SNP	0.000	T
REEP4	80346	genome.wustl.edu	37	8	21995954	21995954	+	3'UTR	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr8:21995954G>C	ENST00000306306.3	-	0	1288				REEP4_ENST00000334530.5_3'UTR|REEP4_ENST00000523293.1_Missense_Mutation_p.S222C	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4						mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)	microtubule binding (GO:0008017)			kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		AATAGCCCTGGAGCCCTGCAG	0.627											OREG0018606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													95.0	72.0	79.0					8																	21995954		2202	4300	6502	SO:0001624	3_prime_UTR_variant	80346			BC013048	CCDS6024.1	8p21.3	2008-05-02	2006-02-07	2006-02-07	ENSG00000168476	ENSG00000168476		"""Receptor accessory proteins"""	26176	protein-coding gene	gene with protein product		609349	"""chromosome 8 open reading frame 20"""	C8orf20		16271481, 15550249	Standard	NM_025232		Approved	FLJ22246, FLJ22277, PP432	uc003xau.1	Q9H6H4	OTTHUMG00000131491	ENST00000306306.3:c.*46C>G	8.37:g.21995954G>C		Somatic	752	WXS	Illumina HiSeq	Phase_IV	D3DSQ9|Q86VL1|Q9H6I5|Q9HBP4	Missense_Mutation	SNP	pfam_TB2_DP1_HVA22	p.S222C	ENST00000306306.3	37	c.665	CCDS6024.1	8	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501823	0.26949	.	.	ENSG00000168476	ENST00000523293	D	0.90004	-2.6	4.57	1.53	0.23141	.	.	.	.	.	D	0.86385	0.5920	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.77874	-0.2425	6	0.66056	D	0.02	.	5.3432	0.15994	0.2017:0.1683:0.63:0.0	.	.	.	.	C	222	ENSP00000428709:S222C	ENSP00000428709:S222C	S	-	2	0	REEP4	22051899	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.876000	0.04201	0.471000	0.27319	0.655000	0.94253	TCC	REEP4	-	NULL		0.627	REEP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REEP4	HGNC	protein_coding	OTTHUMT00000254337.2	G	NM_025232		21995954	-1	no_errors	ENST00000523293	ensembl	human	putative	70_37	missense	SNP	0.000	C
RFX7	64864	genome.wustl.edu	37	15	56394437	56394437	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr15:56394437C>T	ENST00000559447.2	-	6	513	c.242G>A	c.(241-243)gGa>gAa	p.G81E	RFX7_ENST00000423270.1_Missense_Mutation_p.G178E|RFX7_ENST00000317318.6_Missense_Mutation_p.G178E|RFX7_ENST00000422057.1_Missense_Mutation_p.G81E			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	81					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTTTCTTAGTCCACTGTAGCA	0.313																																																	0													65.0	62.0	63.0					15																	56394437		1790	4061	5851	SO:0001583	missense	64864					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.242G>A	15.37:g.56394437C>T	ENSP00000453281:p.Gly81Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.G178E	ENST00000559447.2	37	c.533		15	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314319	0.81358	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	D;D;D	0.93547	-3.24;-3.24;-3.24	5.89	5.89	0.94794	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.061931	0.64402	D	0.000006	D	0.96552	0.8875	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96549	0.9406	10	0.87932	D	0	-12.5209	19.239	0.93875	0.0:1.0:0.0:0.0	.	81	Q2KHR2	RFX7_HUMAN	E	81;178;178	ENSP00000387504:G81E;ENSP00000313299:G178E;ENSP00000397644:G178E	ENSP00000313299:G178E	G	-	2	0	RFX7	54181729	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.788000	0.95919	0.585000	0.79938	GGA	RFX7	-	NULL		0.313	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	RFX7	HGNC	protein_coding	OTTHUMT00000418841.3	C	NM_022841		56394437	-1	no_errors	ENST00000423270	ensembl	human	known	70_37	missense	SNP	1.000	T
RGAG4	340526	genome.wustl.edu	37	X	71350409	71350409	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:71350409G>A	ENST00000545866.1	-	1	1349	c.982C>T	c.(982-984)Cct>Tct	p.P328S	RGAG4_ENST00000609883.1_Missense_Mutation_p.P328S|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	328										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GGAGCAAAAGGGAAGATGATA	0.502																																																	0													93.0	86.0	89.0					X																	71350409		1934	4143	6077	SO:0001583	missense	340526			AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.982C>T	X.37:g.71350409G>A	ENSP00000441366:p.Pro328Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	pfam_Retrotrans_gag	p.P328S	ENST00000545866.1	37	c.982	CCDS55446.1	X	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683515	0.68157	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.12879	2.64;2.64	4.13	1.4	0.22301	.	.	.	.	.	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.44128	-0.9348	8	.	.	.	-3.85	5.5065	0.16856	0.374:0.0:0.626:0.0	.	328	Q5HYW3	RGAG4_HUMAN	S	328	ENSP00000441366:P328S;ENSP00000418667:P328S	.	P	-	1	0	RGAG4	71267134	0.227000	0.23707	0.002000	0.10522	0.906000	0.53458	0.327000	0.19663	0.156000	0.19299	0.600000	0.82982	CCT	RGAG4	-	NULL		0.502	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG4	HGNC	protein_coding	OTTHUMT00000057171.1	G	NM_001024455		71350409	-1	no_errors	ENST00000479991	ensembl	human	known	70_37	missense	SNP	0.001	A
RTN1	6252	genome.wustl.edu	37	14	60074196	60074196	+	Missense_Mutation	SNP	A	A	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr14:60074196A>T	ENST00000267484.5	-	4	2115	c.1780T>A	c.(1780-1782)Tat>Aat	p.Y594N	RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000395090.1_Missense_Mutation_p.Y11N|RTN1_ENST00000342503.4_Missense_Mutation_p.Y26N	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	594	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCCCGCCAATACAACAGGTCA	0.592																																																	0													26.0	26.0	26.0					14																	60074196		2203	4299	6502	SO:0001583	missense	6252			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1780T>A	14.37:g.60074196A>T	ENSP00000267484:p.Tyr594Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.Y594N	ENST00000267484.5	37	c.1780	CCDS9740.1	14	.	.	.	.	.	.	.	.	.	.	A	26.8	4.769905	0.90020	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000395090;ENST00000342503;ENST00000433623	T;T;T	0.48522	0.81;0.81;0.81	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.76456	0.3990	M	0.92649	3.33	0.80722	D	1	P;D;D	0.89917	0.954;1.0;0.989	D;D;D	0.81914	0.934;0.995;0.929	T	0.82667	-0.0344	10	0.87932	D	0	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	11;594;26	A8MT72;Q16799;Q16799-3	.;RTN1_HUMAN;.	N	174;594;11;26;520	ENSP00000267484:Y594N;ENSP00000378525:Y11N;ENSP00000340716:Y26N	ENSP00000267484:Y594N	Y	-	1	0	RTN1	59143949	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.339000	0.96797	2.291000	0.77112	0.533000	0.62120	TAT	RTN1	-	pfam_Reticulon,pfscan_Reticulon		0.592	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2	A			60074196	-1	no_errors	ENST00000267484	ensembl	human	known	70_37	missense	SNP	1.000	T
SCAMP3	10067	genome.wustl.edu	37	1	155231477	155231477	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:155231477C>G	ENST00000302631.3	-	2	222	c.115G>C	c.(115-117)Gac>Cac	p.D39H	SCAMP3_ENST00000355379.3_Intron|CLK2_ENST00000497188.1_5'Flank|SCAMP3_ENST00000472397.1_5'Flank	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	39					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTGTAGACGTCAAGCGTGGCA	0.587																																																	0													121.0	109.0	113.0					1																	155231477		2203	4300	6503	SO:0001583	missense	10067			AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.115G>C	1.37:g.155231477C>G	ENSP00000307275:p.Asp39His	Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Missense_Mutation	SNP	pfam_SCAMP	p.D39H	ENST00000302631.3	37	c.115	CCDS1105.1	1	.	.	.	.	.	.	.	.	.	.	.	26.5	4.740629	0.89573	.	.	ENSG00000116521	ENST00000302631	T	0.18502	2.21	5.46	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.27629	0.0679	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.971;0.998	T	0.00422	-1.1749	10	0.72032	D	0.01	-7.3699	10.3979	0.44211	0.0:0.91:0.0:0.09	.	39;39	Q6FHJ5;O14828	.;SCAM3_HUMAN	H	39	ENSP00000307275:D39H	ENSP00000307275:D39H	D	-	1	0	SCAMP3	153498101	1.000000	0.71417	0.998000	0.56505	0.885000	0.51271	4.583000	0.60964	2.840000	0.97914	0.655000	0.94253	GAC	SCAMP3	-	NULL		0.587	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP3	HGNC	protein_coding	OTTHUMT00000087399.1	C	NM_005698		155231477	-1	no_errors	ENST00000302631	ensembl	human	known	70_37	missense	SNP	1.000	G
SCRIB	23513	genome.wustl.edu	37	8	144891727	144891727	+	Silent	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr8:144891727G>A	ENST00000320476.3	-	14	1698	c.1692C>T	c.(1690-1692)taC>taT	p.Y564Y	SCRIB_ENST00000356994.2_Silent_p.Y564Y|SCRIB_ENST00000377533.3_Silent_p.Y483Y	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	564	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACACCTCCTGGTAGTCCTCTT	0.687																																					Pancreas(51;966 1133 10533 14576 29674)												0													78.0	74.0	76.0					8																	144891727		2203	4300	6503	SO:0001819	synonymous_variant	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1692C>T	8.37:g.144891727G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.Y564	ENST00000320476.3	37	c.1692	CCDS6411.1	8																																																																																			SCRIB	-	NULL		0.687	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	G	NM_015356		144891727	-1	no_errors	ENST00000320476	ensembl	human	known	70_37	silent	SNP	0.337	A
SCRIB	23513	genome.wustl.edu	37	8	144894477	144894477	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr8:144894477C>G	ENST00000320476.3	-	9	871	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	SCRIB_ENST00000356994.2_Missense_Mutation_p.E289Q|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Missense_Mutation_p.E208Q	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	289	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GAGAGGTTCTCACAGTCCCCG	0.602																																					Pancreas(51;966 1133 10533 14576 29674)												0													165.0	143.0	150.0					8																	144894477		2203	4300	6503	SO:0001583	missense	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.865G>C	8.37:g.144894477C>G	ENSP00000322938:p.Glu289Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.E289Q	ENST00000320476.3	37	c.865	CCDS6411.1	8	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072496	0.55646	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.51325	2.24;0.71;1.87	4.21	4.21	0.49690	.	.	.	.	.	T	0.48429	0.1499	N	0.05441	-0.05	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.77557	0.954;0.99	T	0.57412	-0.7816	9	0.45353	T	0.12	.	15.7224	0.77724	0.0:1.0:0.0:0.0	.	289;289	Q14160;Q14160-3	SCRIB_HUMAN;.	Q	289;289;208	ENSP00000349486:E289Q;ENSP00000322938:E289Q;ENSP00000366756:E208Q	ENSP00000322938:E289Q	E	-	1	0	SCRIB	144966465	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	7.468000	0.80943	2.145000	0.66743	0.563000	0.77884	GAG	SCRIB	-	NULL		0.602	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	C	NM_015356		144894477	-1	no_errors	ENST00000320476	ensembl	human	known	70_37	missense	SNP	1.000	G
SDK1	221935	genome.wustl.edu	37	7	4213923	4213923	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr7:4213923G>A	ENST00000404826.2	+	33	5009	c.4870G>A	c.(4870-4872)Gaa>Aaa	p.E1624K	SDK1_ENST00000389531.3_Missense_Mutation_p.E1624K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1624	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCTGGAGTATGAAGCCGGGTC	0.552																																																	0													205.0	199.0	201.0					7																	4213923		2203	4300	6503	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4870G>A	7.37:g.4213923G>A	ENSP00000385899:p.Glu1624Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E1624K	ENST00000404826.2	37	c.4870	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086665	0.55861	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.58506	0.33;0.33	4.91	4.91	0.64330	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.076952	0.49916	D	0.000121	T	0.61248	0.2332	L	0.59436	1.845	0.43211	D	0.995073	P;P;P	0.48998	0.837;0.776;0.918	B;P;P	0.49140	0.363;0.601;0.532	T	0.58103	-0.7695	10	0.20519	T	0.43	.	16.282	0.82694	0.0:0.0:1.0:0.0	.	1624;111;1624	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	K	1624	ENSP00000385899:E1624K;ENSP00000374182:E1624K	ENSP00000374182:E1624K	E	+	1	0	SDK1	4180449	0.999000	0.42202	0.606000	0.28943	0.484000	0.33280	3.748000	0.55142	2.265000	0.75225	0.462000	0.41574	GAA	SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	G	NM_152744		4213923	+1	no_errors	ENST00000404826	ensembl	human	known	70_37	missense	SNP	0.956	A
SEZ6L	23544	genome.wustl.edu	37	22	26707926	26707926	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr22:26707926G>C	ENST00000248933.6	+	8	1969	c.1874G>C	c.(1873-1875)aGa>aCa	p.R625T	SEZ6L_ENST00000404234.3_Missense_Mutation_p.R625T|SEZ6L_ENST00000403121.1_Missense_Mutation_p.R398T|SEZ6L_ENST00000529632.2_Missense_Mutation_p.R625T|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R625T|SEZ6L_ENST00000402979.1_Missense_Mutation_p.R398T|SEZ6L_ENST00000360929.3_Missense_Mutation_p.R625T			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	625	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCCCTGTGCAGAGGTGAGCGG	0.612																																																	0													78.0	76.0	77.0					22																	26707926		2203	4300	6503	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1874G>C	22.37:g.26707926G>C	ENSP00000248933:p.Arg625Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R625T	ENST00000248933.6	37	c.1874	CCDS13833.1	22	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162291	0.78226	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9	4.48	4.48	0.54585	Complement control module (1);CUB (1);Sushi/SCR/CCP (1);	0.000000	0.64402	D	0.000012	T	0.34424	0.0897	L	0.31578	0.945	0.80722	D	1	D;P;P;D;D;P;P	0.59357	0.985;0.927;0.913;0.984;0.984;0.927;0.927	P;P;B;P;P;P;P	0.59703	0.756;0.608;0.276;0.862;0.862;0.608;0.608	T	0.06445	-1.0826	10	0.52906	T	0.07	.	14.8381	0.70201	0.0:0.0:1.0:0.0	.	625;625;398;625;625;625;625	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	T	625;625;625;625;625;398;398	ENSP00000384772:R625T;ENSP00000437037:R625T;ENSP00000354185:R625T;ENSP00000248933:R625T;ENSP00000342661:R625T;ENSP00000384838:R398T;ENSP00000384733:R398T	ENSP00000248933:R625T	R	+	2	0	SEZ6L	25037926	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.363000	0.59473	2.474000	0.83562	0.563000	0.77884	AGA	SEZ6L	-	superfamily_Complement_control_module,pfscan_Sushi_SCR_CCP		0.612	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	G			26707926	+1	no_errors	ENST00000248933	ensembl	human	known	70_37	missense	SNP	1.000	C
SF1	7536	genome.wustl.edu	37	11	64536711	64536711	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:64536711G>A	ENST00000377390.3	-	7	1100	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	SF1_ENST00000422298.2_Missense_Mutation_p.R140W|SF1_ENST00000334944.5_Missense_Mutation_p.R255W|SF1_ENST00000377394.3_Missense_Mutation_p.R255W|SF1_ENST00000377387.1_Missense_Mutation_p.R380W|SF1_ENST00000433274.2_Missense_Mutation_p.R229W|SF1_ENST00000227503.9_Missense_Mutation_p.R255W|SF1_ENST00000489544.1_5'UTR	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	255					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R255W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TCGTCTTCCCGAAGGGTCCCA	0.463																																																	1	Substitution - Missense(1)	skin(1)											93.0	90.0	91.0					11																	64536711		2201	4297	6498	SO:0001583	missense	7536			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.763C>T	11.37:g.64536711G>A	ENSP00000366607:p.Arg255Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1	p.R255W	ENST00000377390.3	37	c.763	CCDS31599.1	11	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385642	0.82792	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	T;T;T;T;T;T;T	0.61158	0.13;0.17;0.2;0.32;0.17;0.21;0.19	5.92	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.78767	0.4335	M	0.86740	2.835	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.991;0.997;0.996;0.995;0.998;0.998	T	0.82981	-0.0187	10	0.87932	D	0	.	14.232	0.65898	0.0:0.0:0.8496:0.1504	.	140;255;255;255;255;380	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	W	380;255;255;255;255;140;229	ENSP00000366604:R380W;ENSP00000366607:R255W;ENSP00000227503:R255W;ENSP00000366611:R255W;ENSP00000334414:R255W;ENSP00000413084:R140W;ENSP00000396793:R229W	ENSP00000227503:R255W	R	-	1	2	SF1	64293287	1.000000	0.71417	0.990000	0.47175	0.968000	0.65278	3.996000	0.57009	1.481000	0.48307	0.557000	0.71058	CGG	SF1	-	NULL		0.463	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SF1	HGNC	protein_coding	OTTHUMT00000143242.1	G	NM_004630		64536711	-1	no_errors	ENST00000377390	ensembl	human	known	70_37	missense	SNP	0.989	A
SH3TC1	54436	genome.wustl.edu	37	4	8228872	8228872	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr4:8228872C>T	ENST00000245105.3	+	12	1518	c.1451C>T	c.(1450-1452)tCc>tTc	p.S484F	SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000539824.1_Missense_Mutation_p.S408F	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	484										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GAGGAGCCCTCCTTCTGCTTG	0.652																																					NSCLC(145;2298 2623 35616 37297)												0													29.0	29.0	29.0					4																	8228872		2203	4298	6501	SO:0001583	missense	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1451C>T	4.37:g.8228872C>T	ENSP00000245105:p.Ser484Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5G5	Missense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.S484F	ENST00000245105.3	37	c.1451	CCDS3399.1	4	.	.	.	.	.	.	.	.	.	.	C	1.474	-0.559052	0.03967	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.48522	0.81;0.81	4.66	0.201	0.15186	.	1.543830	0.03757	N	0.257532	T	0.41119	0.1145	L	0.46157	1.445	0.09310	N	1	B	0.14438	0.01	B	0.17433	0.018	T	0.21895	-1.0232	10	0.36615	T	0.2	-2.2912	5.8644	0.18767	0.1143:0.203:0.5844:0.0983	.	484	Q8TE82	S3TC1_HUMAN	F	222;484;408;313	ENSP00000245105:S484F;ENSP00000441045:S408F	ENSP00000245105:S484F	S	+	2	0	SH3TC1	8279772	0.000000	0.05858	0.016000	0.15963	0.015000	0.08874	0.356000	0.20181	0.056000	0.16144	0.561000	0.74099	TCC	SH3TC1	-	NULL		0.652	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	HGNC	protein_coding	OTTHUMT00000206991.2	C	NM_018986		8228872	+1	no_errors	ENST00000245105	ensembl	human	known	70_37	missense	SNP	0.000	T
SIDT2	51092	genome.wustl.edu	37	11	117050146	117050146	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:117050146C>T	ENST00000324225.4	+	1	698	c.167C>T	c.(166-168)aCt>aTt	p.T56I	SIDT2_ENST00000431081.2_Missense_Mutation_p.T56I	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	56					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TTCAACCATACTGTGACCCGC	0.622																																																	0													66.0	62.0	63.0					11																	117050146		2201	4296	6497	SO:0001583	missense	51092			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.167C>T	11.37:g.117050146C>T	ENSP00000314023:p.Thr56Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NBY7|Q9Y357	Missense_Mutation	SNP	NULL	p.T56I	ENST00000324225.4	37	c.167	CCDS31682.1	11	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353978	0.82243	.	.	ENSG00000149577	ENST00000324225;ENST00000532960;ENST00000525347;ENST00000278951;ENST00000431081	T;T;T;T	0.50277	2.19;0.75;2.16;2.19	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	N	0.22421	0.69	0.58432	D	0.999993	D;D;P;D	0.61080	0.982;0.989;0.837;0.969	P;P;B;P	0.58266	0.828;0.836;0.408;0.677	T	0.24048	-1.0171	10	0.21540	T	0.41	-13.4408	12.8303	0.57742	0.0:0.8343:0.1656:0.0	.	56;56;56;56	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	I	56	ENSP00000314023:T56I;ENSP00000431176:T56I;ENSP00000278951:T56I;ENSP00000399635:T56I	ENSP00000278951:T56I	T	+	2	0	SIDT2	116555356	1.000000	0.71417	0.647000	0.29507	0.984000	0.73092	3.928000	0.56506	2.374000	0.81015	0.561000	0.74099	ACT	SIDT2	-	NULL		0.622	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	HGNC	protein_coding	OTTHUMT00000392836.1	C	NM_015996		117050146	+1	no_errors	ENST00000278951	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC12A3	6559	genome.wustl.edu	37	16	56920999	56920999	+	Silent	SNP	C	C	T	rs201038360		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr16:56920999C>T	ENST00000563236.1	+	17	2197	c.2172C>T	c.(2170-2172)ctC>ctT	p.L724L	SLC12A3_ENST00000438926.2_Silent_p.L724L|SLC12A3_ENST00000262502.5_Silent_p.L723L|SLC12A3_ENST00000566786.1_Silent_p.L723L			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	724					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCAGATCCTCATGCAGGTGC	0.587																																																	0								C	,,	0,4396		0,0,2198	67.0	63.0	64.0		2172,2169,2172	-0.2	1.0	16		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC12A3	NM_000339.2,NM_001126107.1,NM_001126108.1	,,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,,	724/1031,723/1030,724/1022	56920999	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	6559				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2172C>T	16.37:g.56920999C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MSJ2|C9JNN9	Silent	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L724	ENST00000563236.1	37	c.2172	CCDS58464.1	16																																																																																			SLC12A3	-	tigrfam_Na/K/Cl_cotransptS		0.587	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	HGNC	protein_coding	OTTHUMT00000432337.1	C			56920999	+1	no_errors	ENST00000438926	ensembl	human	known	70_37	silent	SNP	0.950	T
SLC24A1	9187	genome.wustl.edu	37	15	65917451	65917451	+	Missense_Mutation	SNP	C	C	G	rs372351507		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr15:65917451C>G	ENST00000261892.6	+	2	1320	c.1033C>G	c.(1033-1035)Ctt>Gtt	p.L345V	SLC24A1_ENST00000546330.1_Missense_Mutation_p.L345V|SLC24A1_ENST00000399033.4_Missense_Mutation_p.L345V|SLC24A1_ENST00000339868.6_Missense_Mutation_p.L345V|SLC24A1_ENST00000544319.2_Missense_Mutation_p.L345V|SLC24A1_ENST00000537259.1_Missense_Mutation_p.L345V	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	345					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGCCTGGAGTCTTAGGAATCC	0.562																																																	0								C	VAL/LEU	0,3968		0,0,1984	39.0	44.0	42.0		1033	-1.1	0.0	15		42	2,8328		0,2,4163	no	missense	SLC24A1	NM_004727.2	32	0,2,6147	GG,GC,CC		0.024,0.0,0.0163	benign	345/1100	65917451	2,12296	1984	4165	6149	SO:0001583	missense	9187			AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1033C>G	15.37:g.65917451C>G	ENSP00000261892:p.Leu345Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O43485|O75184|Q17RM9	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger	p.L345V	ENST00000261892.6	37	c.1033	CCDS45284.1	15	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.463878	0.01062	0.0	2.4E-4	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.61274	0.36;0.14;0.14;0.16;0.12;0.14	4.91	-1.13	0.09775	.	4.652170	0.00447	N	0.000098	T	0.22166	0.0534	N	0.00841	-1.15	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.44997	-0.9291	10	0.05351	T	0.99	.	5.2104	0.15314	0.4045:0.1415:0.4541:0.0	.	345;345;345;345;345	O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;NCKX1_HUMAN;.;.	V	345	ENSP00000439693:L345V;ENSP00000261892:L345V;ENSP00000341837:L345V;ENSP00000445163:L345V;ENSP00000381991:L345V;ENSP00000439190:L345V	ENSP00000261892:L345V	L	+	1	0	SLC24A1	63704504	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.043000	0.13971	-0.094000	0.12374	-0.766000	0.03442	CTT	SLC24A1	-	tigrfam_K-dep_Na/Ca-exchanger		0.562	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A1	HGNC	protein_coding	OTTHUMT00000397304.1	C	NM_004727		65917451	+1	no_errors	ENST00000261892	ensembl	human	known	70_37	missense	SNP	0.000	G
SLC25A47	283600	genome.wustl.edu	37	14	100795252	100795252	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr14:100795252G>A	ENST00000361529.3	+	5	595	c.517G>A	c.(517-519)Gag>Aag	p.E173K	SLC25A47_ENST00000557052.1_Missense_Mutation_p.E27K	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	173					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						AGCCCGTGAGGAGGGGCTGTG	0.682																																					GBM(11;1289 1351)												0													35.0	32.0	33.0					14																	100795252		2202	4297	6499	SO:0001583	missense	283600				CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"""Solute carriers"""	20115	protein-coding gene	gene with protein product		609911	"""chromosome 14 open reading frame 68"""	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.517G>A	14.37:g.100795252G>A	ENSP00000354886:p.Glu173Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP39|Q68CL2|Q6PZD8|Q86U14	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.E173K	ENST00000361529.3	37	c.517	CCDS9959.1	14	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565022	0.65651	.	.	ENSG00000140107	ENST00000361529;ENST00000557052	D;D	0.82433	-1.61;-1.61	4.89	4.89	0.63831	Mitochondrial carrier domain (2);	0.146210	0.64402	D	0.000010	D	0.92642	0.7662	M	0.90019	3.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	D	0.93646	0.6969	10	0.52906	T	0.07	-6.8987	18.0335	0.89292	0.0:0.0:1.0:0.0	.	173	Q6Q0C1	S2547_HUMAN	K	173;27	ENSP00000354886:E173K;ENSP00000451078:E27K	ENSP00000354886:E173K	E	+	1	0	SLC25A47	99865005	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	7.428000	0.80296	2.262000	0.75019	0.491000	0.48974	GAG	SLC25A47	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.682	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A47	HGNC	protein_coding	OTTHUMT00000414231.1	G			100795252	+1	no_errors	ENST00000361529	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC6A5	9152	genome.wustl.edu	37	11	20676507	20676507	+	3'UTR	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:20676507C>G	ENST00000525748.1	+	0	2760				SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5						glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TTTTCTTCATCTTTCTTCCTA	0.453																																																	0																																										SO:0001624	3_prime_UTR_variant	9152			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.*93C>G	11.37:g.20676507C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O95288|Q4VAM7|Q9BX77	RNA	SNP	-	NULL	ENST00000525748.1	37	NULL	CCDS7854.1	11																																																																																			SLC6A5	-	-		0.453	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2	C	NM_004211		20676507	+1	no_errors	ENST00000528440	ensembl	human	known	70_37	rna	SNP	0.013	G
SLC6A6	6533	genome.wustl.edu	37	3	14485210	14485210	+	Missense_Mutation	SNP	G	G	T	rs56135743		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:14485210G>T	ENST00000454876.2	+	3	397	c.68G>T	c.(67-69)gGg>gTg	p.G23V	SLC6A6_ENST00000416216.2_Missense_Mutation_p.G23V|SLC6A6_ENST00000484191.1_Intron|SLC6A6_ENST00000360861.3_Missense_Mutation_p.G23V			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	23					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CCCTCACCAGGGAAGAGCCCA	0.562																																																	0													102.0	96.0	98.0					3																	14485210		2203	4300	6503	SO:0001583	missense	6533				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.68G>T	3.37:g.14485210G>T	ENSP00000398063:p.Gly23Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine	p.G23V	ENST00000454876.2	37	c.68	CCDS33705.1	3	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990521	0.54041	.	.	ENSG00000131389	ENST00000454876;ENST00000360861;ENST00000416216;ENST00000452775	T;T;T;T	0.73897	-0.79;-0.79;-0.14;0.23	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	N	0.08118	0	0.80722	D	1	B;B	0.24533	0.105;0.105	B;B	0.19391	0.025;0.025	T	0.56649	-0.7944	10	0.41790	T	0.15	.	17.7494	0.88430	0.0:0.0:1.0:0.0	.	23;23	B2RNU7;P31641	.;SC6A6_HUMAN	V	23	ENSP00000398063:G23V;ENSP00000354107:G23V;ENSP00000401167:G23V;ENSP00000402059:G23V	ENSP00000354107:G23V	G	+	2	0	SLC6A6	14460214	1.000000	0.71417	0.973000	0.42090	0.976000	0.68499	7.701000	0.84566	2.185000	0.69588	0.585000	0.79938	GGG	SLC6A6	-	NULL		0.562	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A6	HGNC	protein_coding	OTTHUMT00000340507.1	G	NM_003043		14485210	+1	no_errors	ENST00000360861	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC9B1	150159	genome.wustl.edu	37	4	103831685	103831685	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr4:103831685C>T	ENST00000296422.7	-	9	1138	c.997G>A	c.(997-999)Ggc>Agc	p.G333S	SLC9B1_ENST00000512651.2_Intron|SLC9B1_ENST00000394789.3_Missense_Mutation_p.G333S	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	333					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										CGTTGGCTGCCTAAGACGGCA	0.343																																																	0													51.0	48.0	49.0					4																	103831685		2203	4300	6503	SO:0001583	missense	150159			AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.997G>A	4.37:g.103831685C>T	ENSP00000296422:p.Gly333Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	pfam_Cation/H_exchanger	p.G333S	ENST00000296422.7	37	c.997	CCDS34041.1	4	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525410	0.44969	.	.	ENSG00000164037	ENST00000394789;ENST00000296422;ENST00000511253	T;T;T	0.14766	2.48;2.48;2.48	4.74	3.89	0.44902	.	0.377748	0.28989	N	0.013486	T	0.25901	0.0631	L	0.54965	1.715	0.43283	D	0.995259	P;D;P	0.55605	0.627;0.972;0.635	B;P;B	0.58266	0.329;0.836;0.396	T	0.02774	-1.1112	10	0.19590	T	0.45	-14.8877	14.9918	0.71393	0.0:0.8564:0.1436:0.0	.	101;333;333	Q4ZJI4-2;Q4ZJI4;Q4ZJI4-3	.;SL9B1_HUMAN;.	S	333;333;58	ENSP00000378269:G333S;ENSP00000296422:G333S;ENSP00000425544:G58S	ENSP00000296422:G333S	G	-	1	0	SLC9B1	104051134	0.998000	0.40836	0.945000	0.38365	0.817000	0.46193	1.391000	0.34475	1.338000	0.45544	0.585000	0.79938	GGC	SLC9B1	-	pfam_Cation/H_exchanger		0.343	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9B1	HGNC	protein_coding	OTTHUMT00000363841.1	C	NM_139173		103831685	-1	no_errors	ENST00000296422	ensembl	human	known	70_37	missense	SNP	1.000	T
MIEF1	54471	genome.wustl.edu	37	22	39908332	39908332	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr22:39908332C>G	ENST00000325301.2	+	5	842	c.418C>G	c.(418-420)Ctt>Gtt	p.L140V	MIEF1_ENST00000402881.1_Missense_Mutation_p.L140V|MIEF1_ENST00000404569.1_Missense_Mutation_p.L140V	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	140	Dimerization.				mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										GGAGAAACTTCTTACTTACTA	0.612																																																	0													45.0	47.0	46.0					22																	39908332		2203	4300	6503	SO:0001583	missense	54471			AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.418C>G	22.37:g.39908332C>G	ENSP00000327124:p.Leu140Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7L890|Q9BUI3	Missense_Mutation	SNP	NULL	p.L140V	ENST00000325301.2	37	c.418	CCDS13995.1	22	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866571	0.51588	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.12984	2.63;2.64;2.64	5.67	4.59	0.56863	.	0.294132	0.39407	N	0.001364	T	0.08714	0.0216	L	0.39245	1.2	0.31423	N	0.67407	B;B	0.32573	0.008;0.376	B;B	0.27380	0.004;0.079	T	0.06391	-1.0829	10	0.29301	T	0.29	-12.0444	3.7205	0.08454	0.0:0.6601:0.0:0.3399	.	140;140	Q9NQG6;B0QY95	MID51_HUMAN;.	V	140	ENSP00000385110:L140V;ENSP00000327124:L140V;ENSP00000385191:L140V	ENSP00000327124:L140V	L	+	1	0	SMCR7L	38238278	1.000000	0.71417	0.949000	0.38748	0.998000	0.95712	3.287000	0.51732	2.671000	0.90904	0.585000	0.79938	CTT	SMCR7L	-	NULL		0.612	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR7L	HGNC	protein_coding	OTTHUMT00000321325.1	C	NM_019008		39908332	+1	no_errors	ENST00000325301	ensembl	human	known	70_37	missense	SNP	0.998	G
SMEK1	55671	genome.wustl.edu	37	14	91929188	91929188	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr14:91929188C>G	ENST00000554943.1	-	12	1979	c.1864G>C	c.(1864-1866)Gaa>Caa	p.E622Q	SMEK1_ENST00000555462.1_Missense_Mutation_p.E383Q|SMEK1_ENST00000428424.2_Missense_Mutation_p.E383Q|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000337238.4_Missense_Mutation_p.E609Q|SMEK1_ENST00000554684.1_Missense_Mutation_p.E609Q			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	622					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		CAGTAATTTTCAATTACATGA	0.294																																																	0													127.0	133.0	131.0					14																	91929188		2203	4297	6500	SO:0001583	missense	55671			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1864G>C	14.37:g.91929188C>G	ENSP00000450883:p.Glu622Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.E622Q	ENST00000554943.1	37	c.1864		14	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891237	0.91889	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;D;T;D;T	0.93953	1.54;1.54;-3.32;1.54;-3.32;1.54	5.34	5.34	0.76211	Armadillo-type fold (1);	0.044809	0.85682	D	0.000000	D	0.96309	0.8796	M	0.70595	2.14	0.80722	D	1	B;P;D	0.69078	0.241;0.566;0.997	B;P;D	0.71184	0.086;0.529;0.972	D	0.96055	0.9034	10	0.51188	T	0.08	-17.0587	19.0581	0.93074	0.0:1.0:0.0:0.0	.	383;622;609	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	Q	609;609;383;622;383;609	ENSP00000450864:E609Q;ENSP00000337125:E609Q;ENSP00000392704:E383Q;ENSP00000450883:E622Q;ENSP00000450891:E383Q;ENSP00000452596:E609Q	ENSP00000337125:E609Q	E	-	1	0	SMEK1	90998941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.488000	0.83962	0.655000	0.94253	GAA	SMEK1	-	superfamily_ARM-type_fold		0.294	SMEK1-007	KNOWN	basic	protein_coding	SMEK1	HGNC	protein_coding	OTTHUMT00000411665.1	C	NM_032560		91929188	-1	no_errors	ENST00000554943	ensembl	human	known	70_37	missense	SNP	1.000	G
SMG6	23293	genome.wustl.edu	37	17	1990372	1990372	+	Intron	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:1990372G>A	ENST00000263073.6	-	14	3408				SMG6_ENST00000573166.1_5'UTR|RP11-667K14.5_ENST00000571815.1_RNA|SMG6_ENST00000354901.4_Intron|SMG6_ENST00000536871.2_Intron|SMG6_ENST00000544865.1_Intron	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TACTAACCTGGAGACTACTGA	0.458																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0																																										SO:0001627	intron_variant	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3358-1177C>T	17.37:g.1990372G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z874|O94837|Q86VH6|Q9UF60	RNA	SNP	-	NULL	ENST00000263073.6	37	NULL	CCDS11016.1	17																																																																																			SMG6	-	-		0.458	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	G			1990372	-1	no_errors	ENST00000573166	ensembl	human	known	70_37	rna	SNP	0.004	A
SMG8	55181	genome.wustl.edu	37	17	57289129	57289129	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:57289129G>A	ENST00000543872.2	+	2	1981	c.1717G>A	c.(1717-1719)Gat>Aat	p.D573N	SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.D573N|SMG8_ENST00000578922.1_Missense_Mutation_p.D573N|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	573					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GAGTTTAACTGATCAACACTG	0.383																																																	0													104.0	93.0	97.0					17																	57289129		2203	4300	6503	SO:0001583	missense	55181			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1717G>A	17.37:g.57289129G>A	ENSP00000438748:p.Asp573Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	pfam_Smg8/Smg9	p.D573N	ENST00000543872.2	37	c.1717	CCDS11615.1	17	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780696	0.70222	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.46063	0.88;0.88	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.58666	0.2138	L	0.47716	1.5	0.58432	D	0.999995	D	0.65815	0.995	D	0.66602	0.945	T	0.55636	-0.8110	10	0.51188	T	0.08	-19.8722	18.9389	0.92597	0.0:0.0:1.0:0.0	.	573	Q8ND04	SMG8_HUMAN	N	573	ENSP00000300917:D573N;ENSP00000438748:D573N	ENSP00000300917:D573N	D	+	1	0	SMG8	54643911	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.705000	0.92388	0.655000	0.94253	GAT	SMG8	-	pfam_Smg8/Smg9		0.383	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	G	NM_018149		57289129	+1	no_errors	ENST00000300917	ensembl	human	known	70_37	missense	SNP	1.000	A
SNHG14	104472715	genome.wustl.edu	37	15	25332843	25332843	+	RNA	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr15:25332843G>A	ENST00000546682.1	+	0	586				SNORD116-18_ENST00000383961.1_RNA|SNORD116-20_ENST00000384529.1_lincRNA|SNORD116-19_ENST00000384729.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000384430.1_RNA|SNORD116-20_ENST00000384507.1_lincRNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		ACATTCCTTGGAAAGCTGAAC	0.438																																																	0													266.0	234.0	244.0					15																	25332843		876	1989	2865			100033431					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25332843G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000546682.1	37	NULL		15																																																																																			SNORD116-20	-	-		0.438	SNHG14-022	KNOWN	basic	antisense	SNORD116-20	HGNC	processed_transcript	OTTHUMT00000408281.1	G			25332843	+1	no_errors	ENST00000384529	ensembl	human	known	70_37	rna	SNP	0.966	A
SNHG14	104472715	genome.wustl.edu	37	15	25332850	25332850	+	RNA	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr15:25332850G>A	ENST00000546682.1	+	0	586				SNORD116-18_ENST00000383961.1_RNA|SNORD116-20_ENST00000384529.1_lincRNA|SNORD116-19_ENST00000384729.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000384430.1_RNA|SNORD116-20_ENST00000384507.1_lincRNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTGGAAAGCTGAACAAAATGA	0.443																																																	0													272.0	238.0	249.0					15																	25332850		876	1989	2865			100033431					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25332850G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000546682.1	37	NULL		15																																																																																			SNORD116-20	-	-		0.443	SNHG14-022	KNOWN	basic	antisense	SNORD116-20	HGNC	processed_transcript	OTTHUMT00000408281.1	G			25332850	+1	no_errors	ENST00000384529	ensembl	human	known	70_37	rna	SNP	0.976	A
SNX9	51429	genome.wustl.edu	37	6	158288594	158288594	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr6:158288594G>C	ENST00000392185.3	+	2	199	c.28G>C	c.(28-30)Gat>Cat	p.D10H		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	10	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		GGTTATGTATGATTTTGCTGC	0.388																																																	0													176.0	146.0	156.0					6																	158288594		2203	4300	6503	SO:0001583	missense	51429			AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.28G>C	6.37:g.158288594G>C	ENSP00000376024:p.Asp10His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.D10H	ENST00000392185.3	37	c.28	CCDS5253.1	6	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655584	0.67586	.	.	ENSG00000130340	ENST00000539592;ENST00000392185	T	0.67698	-0.28	5.43	4.37	0.52481	Src homology-3 domain (4);	0.105037	0.64402	D	0.000007	D	0.83179	0.5198	H	0.95917	3.74	0.80722	D	1	D	0.65815	0.995	D	0.67103	0.949	D	0.87841	0.2651	10	0.87932	D	0	-3.2178	12.03	0.53392	0.0978:0.0:0.9022:0.0	.	10	Q9Y5X1	SNX9_HUMAN	H	10	ENSP00000376024:D10H	ENSP00000376024:D10H	D	+	1	0	SNX9	158208582	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	4.346000	0.59367	2.062000	0.61559	0.533000	0.62120	GAT	SNX9	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Snx9,pfscan_SH3_domain		0.388	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX9	HGNC	protein_coding	OTTHUMT00000042856.1	G			158288594	+1	no_errors	ENST00000392185	ensembl	human	known	70_37	missense	SNP	1.000	C
SPTAN1	6709	genome.wustl.edu	37	9	131346188	131346188	+	Silent	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr9:131346188C>G	ENST00000372731.4	+	16	2243	c.2133C>G	c.(2131-2133)acC>acG	p.T711T	SPTAN1_ENST00000358161.5_Silent_p.T711T|SPTAN1_ENST00000372739.3_Silent_p.T711T	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	711					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AAGATCTTACCAATGTGCAGA	0.468																																					NSCLC(120;833 1744 2558 35612 37579)												0													128.0	115.0	120.0					9																	131346188		2203	4300	6503	SO:0001819	synonymous_variant	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2133C>G	9.37:g.131346188C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.T711	ENST00000372731.4	37	c.2133	CCDS6905.1	9																																																																																			SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.468	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	C	NM_003127		131346188	+1	no_errors	ENST00000358161	ensembl	human	known	70_37	silent	SNP	0.995	G
AKNAD1	254268	genome.wustl.edu	37	1	109400025	109400025	+	5'Flank	SNP	A	A	T	rs370208107	byFrequency	TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:109400025A>T	ENST00000370001.3	-	0	0				SPATA42_ENST00000369989.2_RNA|AKNAD1_ENST00000369995.3_5'Flank|SPATA42_ENST00000417241.1_RNA|AKNAD1_ENST00000357393.4_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1							cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GATGACTGGGAATCTGATGGA	0.418													A|||	6	0.00119808	0.0	0.0	5008	,	,		22577	0.006		0.0	False		,,,				2504	0.0																0																																										SO:0001631	upstream_gene_variant	642864			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231		1.37:g.109400025A>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EK62|Q5T1N0|Q8N990|Q8NCN9	RNA	SNP	-	NULL	ENST00000370001.3	37	NULL	CCDS791.2	1																																																																																			RP11-475E11.5	-	-		0.418	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SRG7	Clone_based_vega_gene	protein_coding	OTTHUMT00000030923.2	A	NM_152763		109400025	+1	no_errors	ENST00000369989	ensembl	human	known	70_37	rna	SNP	0.049	T
SRPX2	27286	genome.wustl.edu	37	X	99920345	99920345	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:99920345C>T	ENST00000373004.3	+	6	1066	c.638C>T	c.(637-639)tCt>tTt	p.S213F		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	213	HYR. {ECO:0000255|PROSITE- ProRule:PRU00113}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GTGAAAGATTCTGCTGATGGT	0.527																																																	0													99.0	77.0	85.0					X																	99920345		2203	4299	6502	SO:0001583	missense	27286			AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.638C>T	X.37:g.99920345C>T	ENSP00000362095:p.Ser213Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQT3|Q8WW85	Missense_Mutation	SNP	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.S213F	ENST00000373004.3	37	c.638	CCDS14471.1	X	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005015	0.74932	.	.	ENSG00000102359	ENST00000373004	T	0.23950	1.88	5.61	5.61	0.85477	Hyalin (2);	0.046825	0.85682	D	0.000000	T	0.28499	0.0705	L	0.40543	1.245	0.54753	D	0.999987	P	0.50943	0.94	P	0.48598	0.583	T	0.01238	-1.1409	9	.	.	.	-14.1607	12.9382	0.58327	0.0:0.9209:0.0:0.0791	.	213	O60687	SRPX2_HUMAN	F	213	ENSP00000362095:S213F	.	S	+	2	0	SRPX2	99807001	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.081000	0.76844	2.359000	0.80004	0.529000	0.55759	TCT	SRPX2	-	pfam_Hyalin,pfscan_Hyalin		0.527	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX2	HGNC	protein_coding	OTTHUMT00000057486.1	C	NM_014467		99920345	+1	no_errors	ENST00000373004	ensembl	human	known	70_37	missense	SNP	1.000	T
SSBP4	170463	genome.wustl.edu	37	19	18544419	18544419	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr19:18544419C>G	ENST00000270061.7	+	16	1310	c.1016C>G	c.(1015-1017)cCg>cGg	p.P339R	SSBP4_ENST00000348495.6_Missense_Mutation_p.P317R|SSBP4_ENST00000599699.2_Missense_Mutation_p.P25R	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	339						nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						GACGGGTTGCCGAAGGTAAGG	0.746																																																	0													20.0	15.0	17.0					19																	18544419		2109	4173	6282	SO:0001583	missense	170463				CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.1016C>G	19.37:g.18544419C>G	ENSP00000270061:p.Pro339Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BWW5	Missense_Mutation	SNP	pfam_SSDP_ss-bd,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd	p.P339R	ENST00000270061.7	37	c.1016	CCDS12378.1	19	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504373	0.44558	.	.	ENSG00000130511	ENST00000270061;ENST00000348495	.	.	.	3.45	2.36	0.29203	.	0.000000	0.64402	U	0.000002	T	0.67373	0.2886	L	0.61218	1.895	0.58432	D	0.999991	P;D	0.58620	0.932;0.983	P;D	0.69479	0.903;0.964	T	0.64702	-0.6345	9	0.49607	T	0.09	-10.8721	8.0352	0.30488	0.2434:0.7566:0.0:0.0	.	317;339	Q9BWW5;Q9BWG4	.;SSBP4_HUMAN	R	339;317	.	ENSP00000270061:P339R	P	+	2	0	SSBP4	18405419	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	3.065000	0.49994	0.540000	0.28808	0.298000	0.19748	CCG	SSBP4	-	pfam_SSDP_ss-bd		0.746	SSBP4-002	KNOWN	basic|CCDS	protein_coding	SSBP4	HGNC	protein_coding	OTTHUMT00000466348.3	C	NM_032627		18544419	+1	no_errors	ENST00000270061	ensembl	human	known	70_37	missense	SNP	1.000	G
STAT2	6773	genome.wustl.edu	37	12	56748604	56748604	+	Silent	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:56748604C>T	ENST00000314128.4	-	7	614	c.591G>A	c.(589-591)aaG>aaA	p.K197K	STAT2_ENST00000557235.1_Silent_p.K193K|RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000418572.2_Silent_p.K193K			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	197					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CCTGCAGAATCTTCTGCTCTT	0.522																																																	0													205.0	202.0	203.0					12																	56748604		2203	4300	6503	SO:0001819	synonymous_variant	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.591G>A	12.37:g.56748604C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.K197	ENST00000314128.4	37	c.591	CCDS8917.1	12																																																																																			STAT2	-	pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil		0.522	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	C	NM_005419		56748604	-1	no_errors	ENST00000314128	ensembl	human	known	70_37	silent	SNP	0.008	T
STAT2	6773	genome.wustl.edu	37	12	56749109	56749109	+	Silent	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:56749109C>T	ENST00000314128.4	-	6	521	c.498G>A	c.(496-498)ctG>ctA	p.L166L	STAT2_ENST00000557235.1_Silent_p.L162L|RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000418572.2_Silent_p.L162L			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	166					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GCTGGTCTTTCAGTTGGCTGA	0.527																																																	0													138.0	129.0	132.0					12																	56749109		2203	4300	6503	SO:0001819	synonymous_variant	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.498G>A	12.37:g.56749109C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.L166	ENST00000314128.4	37	c.498	CCDS8917.1	12																																																																																			STAT2	-	pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil		0.527	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	C	NM_005419		56749109	-1	no_errors	ENST00000314128	ensembl	human	known	70_37	silent	SNP	0.996	T
STXBP4	252983	genome.wustl.edu	37	17	53068305	53068305	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr17:53068305G>C	ENST00000376352.2	+	4	374	c.167G>C	c.(166-168)gGa>gCa	p.G56A	STXBP4_ENST00000405898.1_Missense_Mutation_p.G56A|STXBP4_ENST00000299341.4_5'UTR|STXBP4_ENST00000434978.2_Missense_Mutation_p.G56A|STXBP4_ENST00000398391.2_Intron	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	56	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						ATTCCTGGAGGAGACTGTTAT	0.373																																																	0													114.0	124.0	121.0					17																	53068305		2203	4300	6503	SO:0001583	missense	252983			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.167G>C	17.37:g.53068305G>C	ENSP00000365530:p.Gly56Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVZ5	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.G56A	ENST00000376352.2	37	c.167	CCDS11584.2	17	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779895	0.90195	.	.	ENSG00000166263	ENST00000376352;ENST00000405898;ENST00000434978	T;T;T	0.26518	1.73;1.73;1.73	5.72	5.72	0.89469	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.64148	0.2572	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73519	-0.3957	10	0.87932	D	0	-21.856	18.8682	0.92301	0.0:0.0:1.0:0.0	.	56;56	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	A	56	ENSP00000365530:G56A;ENSP00000385944:G56A;ENSP00000391087:G56A	ENSP00000365530:G56A	G	+	2	0	STXBP4	50423304	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.717000	0.91425	2.703000	0.92315	0.655000	0.94253	GGA	STXBP4	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.373	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP4	HGNC	protein_coding	OTTHUMT00000157184.1	G	NM_178509		53068305	+1	no_errors	ENST00000376352	ensembl	human	known	70_37	missense	SNP	1.000	C
T	6862	genome.wustl.edu	37	6	166579199	166579199	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr6:166579199C>T	ENST00000296946.2	-	4	1069	c.601G>A	c.(601-603)Gag>Aag	p.E201K	T_ENST00000366871.3_Missense_Mutation_p.E201K	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	201					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CTCACCTCCTCGTTCTGATAA	0.597									Chordoma, Familial Clustering of																																								0													216.0	190.0	199.0					6																	166579199		2203	4300	6503	SO:0001583	missense	6862	Familial Cancer Database		AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.601G>A	6.37:g.166579199C>T	ENSP00000296946:p.Glu201Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E7ERD6|Q4KMP4	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury,prints_TF_T-box	p.E201K	ENST00000296946.2	37	c.601	CCDS5290.1	6	.	.	.	.	.	.	.	.	.	.	C	31	5.058649	0.93846	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D;D	0.88277	-2.36;-2.36;-2.36	5.04	4.17	0.49024	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93825	0.8025	M	0.89715	3.055	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.994	D;D;D	0.68192	0.944;0.956;0.944	D	0.94776	0.7949	10	0.72032	D	0.01	.	13.9227	0.63942	0.1532:0.8468:0.0:0.0	.	201;201;201	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	K	201	ENSP00000355841:E201K;ENSP00000296946:E201K;ENSP00000355836:E201K	ENSP00000296946:E201K	E	-	1	0	T	166499189	1.000000	0.71417	0.942000	0.38095	0.981000	0.71138	5.583000	0.67484	1.104000	0.41587	0.561000	0.74099	GAG	T	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box		0.597	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	T	HGNC	protein_coding	OTTHUMT00000043037.2	C	NM_003181		166579199	-1	no_errors	ENST00000296946	ensembl	human	known	70_37	missense	SNP	0.963	T
TAF1B	9014	genome.wustl.edu	37	2	10051016	10051016	+	Silent	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:10051016C>G	ENST00000263663.5	+	10	1295	c.1107C>G	c.(1105-1107)ctC>ctG	p.L369L	TAF1B_ENST00000396242.3_Silent_p.L114L	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	369	C-terminal cyclin fold.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGAAACTGCTCTTTCTATTGG	0.338																																																	0													196.0	155.0	169.0					2																	10051016		2203	4300	6503	SO:0001819	synonymous_variant	9014			L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.1107C>G	2.37:g.10051016C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DI42|F8WD72|Q15574|Q8WVC3	Silent	SNP	pfam_TF_Rrn7	p.L369	ENST00000263663.5	37	c.1107	CCDS33143.1	2																																																																																			TAF1B	-	NULL		0.338	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1B	HGNC	protein_coding	OTTHUMT00000323426.2	C	NM_005680		10051016	+1	no_errors	ENST00000263663	ensembl	human	known	70_37	silent	SNP	0.992	G
TAF1L	138474	genome.wustl.edu	37	9	32631420	32631420	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr9:32631420C>G	ENST00000242310.4	-	1	4247	c.4158G>C	c.(4156-4158)ttG>ttC	p.L1386F	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1386					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAGGTATATTCAAATAGTCAC	0.458																																																	0													240.0	232.0	235.0					9																	32631420		2203	4300	6503	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4158G>C	9.37:g.32631420C>G	ENSP00000418379:p.Leu1386Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.L1386F	ENST00000242310.4	37	c.4158	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509056	0.44660	.	.	ENSG00000122728	ENST00000242310	T	0.19250	2.16	0.479	0.479	0.16796	Bromodomain (1);	0.000000	0.85682	D	0.000000	T	0.33962	0.0881	M	0.64997	1.995	0.46356	D	0.999003	D	0.89917	1.0	D	0.85130	0.997	T	0.12941	-1.0528	10	0.87932	D	0	.	3.4488	0.07490	0.449:0.5509:1.0E-4:1.0E-4	.	1386	Q8IZX4	TAF1L_HUMAN	F	1386	ENSP00000418379:L1386F	ENSP00000418379:L1386F	L	-	3	2	TAF1L	32621420	1.000000	0.71417	0.989000	0.46669	0.413000	0.31143	0.413000	0.21148	0.507000	0.28148	0.195000	0.17529	TTG	TAF1L	-	pirsf_TAF1_animal,superfamily_Bromodomain		0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	C			32631420	-1	no_errors	ENST00000242310	ensembl	human	known	70_37	missense	SNP	1.000	G
TAS2R41	259287	genome.wustl.edu	37	7	143175387	143175387	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr7:143175387C>G	ENST00000408916.1	+	1	422	c.422C>G	c.(421-423)tCc>tGc	p.S141C	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	141					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GTCCTGATCTCCTTCATCATA	0.453																																																	0													55.0	54.0	54.0					7																	143175387		1900	4128	6028	SO:0001583	missense	259287			AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.422C>G	7.37:g.143175387C>G	ENSP00000386201:p.Ser141Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.S141C	ENST00000408916.1	37	c.422	CCDS43663.1	7	.	.	.	.	.	.	.	.	.	.	C	12.52	1.964112	0.34659	.	.	ENSG00000221855	ENST00000408916	T	0.44482	0.92	5.7	5.7	0.88788	.	0.253979	0.28262	U	0.015999	T	0.66036	0.2749	M	0.85041	2.73	0.19945	N	0.999944	D	0.59357	0.985	P	0.60345	0.873	T	0.62812	-0.6775	10	0.49607	T	0.09	.	17.3112	0.87211	0.0:1.0:0.0:0.0	.	141	P59536	T2R41_HUMAN	C	141	ENSP00000386201:S141C	ENSP00000386201:S141C	S	+	2	0	TAS2R41	142885509	0.027000	0.19231	0.019000	0.16419	0.015000	0.08874	2.511000	0.45476	2.682000	0.91365	0.655000	0.94253	TCC	TAS2R41	-	pfam_TAS2_rcpt		0.453	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R41	HGNC	protein_coding	OTTHUMT00000342149.1	C			143175387	+1	no_errors	ENST00000408916	ensembl	human	known	70_37	missense	SNP	0.124	G
TBC1D2B	23102	genome.wustl.edu	37	15	78293968	78293968	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr15:78293968C>G	ENST00000300584.3	-	12	2688	c.2689G>C	c.(2689-2691)Gat>Cat	p.D897H	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.D897H|TBC1D2B_ENST00000492078.1_5'UTR	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	897							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CACCTAGCATCAAGGATAGTG	0.473																																																	0													52.0	47.0	49.0					15																	78293968		2195	4289	6484	SO:0001583	missense	23102			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2689G>C	15.37:g.78293968C>G	ENSP00000300584:p.Asp897His	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.D897H	ENST00000300584.3	37	c.2689	CCDS45314.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.37|16.37	3.103913|3.103913	0.56291|0.56291	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000409931;ENST00000300584|ENST00000418039	T;T|.	0.33865|.	1.39;1.39|.	5.61|5.61	5.61|5.61	0.85477|0.85477	Rab-GAP/TBC domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72153|0.72153	0.3425|0.3425	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|T	0.66590|0.66590	-0.5885|-0.5885	10|6	0.59425|0.09843	D|T	0.04|0.71	.|.	18.6175|18.6175	0.91308|0.91308	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	897;897|.	Q9UPU7-2;Q9UPU7|.	.;TBD2B_HUMAN|.	H|F	897|778	ENSP00000387165:D897H;ENSP00000300584:D897H|.	ENSP00000300584:D897H|ENSP00000388157:L778F	D|L	-|-	1|3	0|2	TBC1D2B|TBC1D2B	76081023|76081023	1.000000|1.000000	0.71417|0.71417	0.459000|0.459000	0.27081|0.27081	0.255000|0.255000	0.26057|0.26057	7.728000|7.728000	0.84847|0.84847	2.626000|2.626000	0.88956|0.88956	0.561000|0.561000	0.74099|0.74099	GAT|TTG	TBC1D2B	-	superfamily_Rab-GTPase-TBC_dom		0.473	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D2B	HGNC	protein_coding	OTTHUMT00000328369.3	C	NM_015079		78293968	-1	no_errors	ENST00000300584	ensembl	human	known	70_37	missense	SNP	1.000	G
TBL1XR1	79718	genome.wustl.edu	37	3	176767838	176767838	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:176767838C>G	ENST00000430069.1	-	7	908	c.649G>C	c.(649-651)Gaa>Caa	p.E217Q	TBL1XR1-AS1_ENST00000454723.2_RNA|TBL1XR1_ENST00000457928.2_Missense_Mutation_p.E217Q			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	217					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TGCCCTCCTTCTCGTATACAA	0.383																																																	0													168.0	158.0	161.0					3																	176767838		1996	4149	6145	SO:0001583	missense	79718			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.649G>C	3.37:g.176767838C>G	ENSP00000405574:p.Glu217Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E217Q	ENST00000430069.1	37	c.649	CCDS46961.1	3	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960545	0.74016	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	T;T	0.52526	0.66;0.66	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.33702	0.0872	N	0.20610	0.595	0.80722	D	1	P	0.36789	0.57	B	0.32533	0.147	T	0.11446	-1.0587	10	0.28530	T	0.3	-10.9567	18.1806	0.89776	0.0:1.0:0.0:0.0	.	217	Q9BZK7	TBL1R_HUMAN	Q	217;217;79	ENSP00000405574:E217Q;ENSP00000413251:E217Q	ENSP00000405574:E217Q	E	-	1	0	TBL1XR1	178250532	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.809000	0.86057	2.596000	0.87737	0.655000	0.94253	GAA	TBL1XR1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.383	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL1XR1	HGNC	protein_coding	OTTHUMT00000347587.3	C	NM_024665		176767838	-1	no_errors	ENST00000430069	ensembl	human	known	70_37	missense	SNP	1.000	G
TESK2	10420	genome.wustl.edu	37	1	45809610	45809610	+	3'UTR	DEL	A	A	-			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:45809610delA	ENST00000372086.3	-	0	3018				TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_3'UTR|TESK2_ENST00000341771.6_3'UTR|TOE1_ENST00000372090.5_3'UTR|TOE1_ENST00000495703.1_3'UTR	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2						actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					AAAGTTTTACAAAAAAAAAAA	0.363																																																	0																																										SO:0001624	3_prime_UTR_variant	10420			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.*902T>-	1.37:g.45809610delA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T422|Q5T423|Q8N520|Q9Y3Q6	RNA	DEL	-	NULL	ENST00000372086.3	37	NULL	CCDS41323.1	1																																																																																			TESK2	-	-		0.363	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK2	HGNC	protein_coding	OTTHUMT00000020523.1	A	NM_007170		45809610	-1	no_errors	ENST00000486676	ensembl	human	known	70_37	rna	DEL	0.794	-
THSD7B	80731	genome.wustl.edu	37	2	137814668	137814668	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr2:137814668C>G	ENST00000409968.1	+	3	996	c.818C>G	c.(817-819)tCa>tGa	p.S273*	THSD7B_ENST00000413152.2_Nonsense_Mutation_p.S242*|THSD7B_ENST00000543459.1_Nonsense_Mutation_p.S132*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.S273*			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	273						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AACTCTGATTCAAATGAGCGA	0.398																																																	0													97.0	96.0	96.0					2																	137814668		1864	4106	5970	SO:0001587	stop_gained	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.818C>G	2.37:g.137814668C>G	ENSP00000387145:p.Ser273*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.S273*	ENST00000409968.1	37	c.818		2	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629117	0.67015	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	.	.	.	5.45	4.51	0.55191	.	0.490245	0.23021	N	0.052848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	10.7878	0.46415	0.1456:0.7137:0.1407:0.0	.	.	.	.	X	273;273;242;132	.	ENSP00000272643:S273X	S	+	2	0	THSD7B	137531138	0.997000	0.39634	1.000000	0.80357	0.533000	0.34776	3.553000	0.53713	2.721000	0.93114	0.585000	0.79938	TCA	THSD7B	-	NULL		0.398	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	C	XM_046570.9		137814668	+1	no_errors	ENST00000272643	ensembl	human	known	70_37	nonsense	SNP	0.995	G
TIE1	7075	genome.wustl.edu	37	1	43785150	43785150	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:43785150G>C	ENST00000372476.3	+	19	3136	c.3057G>C	c.(3055-3057)tgG>tgC	p.W1019C	TIE1_ENST00000433781.2_Missense_Mutation_p.W664C|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	1019	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGTGCGCTGGATGGCCATTG	0.587																																																	0													188.0	167.0	174.0					1																	43785150		2203	4300	6503	SO:0001583	missense	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.3057G>C	1.37:g.43785150G>C	ENSP00000361554:p.Trp1019Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B5A949|B5A950	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.W1019C	ENST00000372476.3	37	c.3057	CCDS482.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678515	0.88542	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.72282	-0.64;-0.64	5.75	5.75	0.90469	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.36703	N	0.002460	D	0.90297	0.6965	H	0.96748	3.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92908	0.6345	10	0.87932	D	0	.	19.9417	0.97165	0.0:0.0:1.0:0.0	.	974;664;1019	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	C	1019;422;302;664	ENSP00000361554:W1019C;ENSP00000411728:W664C	ENSP00000361553:W422C	W	+	3	0	TIE1	43557737	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.605000	0.98321	2.720000	0.93068	0.655000	0.94253	TGG	TIE1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.587	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	G	NM_005424		43785150	+1	no_errors	ENST00000372476	ensembl	human	known	70_37	missense	SNP	1.000	C
TLR10	81793	genome.wustl.edu	37	4	38777922	38777922	+	5'UTR	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr4:38777922G>A	ENST00000308973.4	-	0	163				TLR10_ENST00000361424.2_Intron|TLR10_ENST00000506111.1_5'Flank|TLR10_ENST00000507953.1_5'UTR|TLR10_ENST00000508334.1_5'Flank	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10						immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GTCATTAAAAGAAAGATCTAA	0.353																																																	0																																										SO:0001623	5_prime_UTR_variant	81793			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.-443C>T	4.37:g.38777922G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	RNA	SNP	-	NULL	ENST00000308973.4	37	NULL	CCDS3445.1	4																																																																																			TLR10	-	-		0.353	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR10	HGNC	protein_coding	OTTHUMT00000250430.1	G			38777922	-1	no_errors	ENST00000507953	ensembl	human	known	70_37	rna	SNP	0.705	A
TMC2	117532	genome.wustl.edu	37	20	2604936	2604936	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr20:2604936G>C	ENST00000358864.1	+	17	2215	c.2200G>C	c.(2200-2202)Gat>Cat	p.D734H		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	734					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAGAATGTACGATGTCCTCCA	0.507																																																	0													172.0	129.0	143.0					20																	2604936		2203	4300	6503	SO:0001583	missense	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2200G>C	20.37:g.2604936G>C	ENSP00000351732:p.Asp734His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	pfam_TMC	p.D734H	ENST00000358864.1	37	c.2200	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568111	0.45798	.	.	ENSG00000149488	ENST00000358864	T	0.65916	-0.18	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.69993	0.3173	L	0.47016	1.485	0.80722	D	1	D	0.59357	0.985	P	0.59703	0.862	T	0.68258	-0.5456	10	0.37606	T	0.19	-22.4365	16.2232	0.82269	0.0:0.0:1.0:0.0	.	734	Q8TDI7	TMC2_HUMAN	H	734	ENSP00000351732:D734H	ENSP00000351732:D734H	D	+	1	0	TMC2	2552936	1.000000	0.71417	0.817000	0.32601	0.055000	0.15305	9.748000	0.98867	2.498000	0.84270	0.650000	0.86243	GAT	TMC2	-	NULL		0.507	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	G			2604936	+1	no_errors	ENST00000358864	ensembl	human	known	70_37	missense	SNP	1.000	C
TMCO4	255104	genome.wustl.edu	37	1	20107215	20107215	+	Missense_Mutation	SNP	G	G	T	rs534456252		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:20107215G>T	ENST00000294543.6	-	4	278	c.37C>A	c.(37-39)Cag>Aag	p.Q13K	TMCO4_ENST00000375122.2_Missense_Mutation_p.Q13K|TMCO4_ENST00000375127.1_Missense_Mutation_p.Q13K	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	13						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGAGGCTGCTGAGGCAGCCTC	0.607													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14956	0.0		0.0	False		,,,				2504	0.0																0													15.0	18.0	17.0					1																	20107215		2194	4283	6477	SO:0001583	missense	255104				CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.37C>A	1.37:g.20107215G>T	ENSP00000294543:p.Gln13Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	pfam_DUF726,pfam_DUF900_hydrolase	p.Q13K	ENST00000294543.6	37	c.37	CCDS198.1	1	.	.	.	.	.	.	.	.	.	.	G	0.178	-1.064700	0.01934	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.28666	1.6;1.62;1.61	1.05	1.05	0.20165	.	0.590539	0.15276	N	0.270955	T	0.13500	0.0327	N	0.22421	0.69	0.23376	N	0.997801	B;B	0.24186	0.006;0.099	B;B	0.15484	0.001;0.013	T	0.30031	-0.9992	10	0.05721	T	0.95	.	5.4583	0.16602	0.0:0.0:1.0:0.0	.	13;13	Q5TGY1;Q5TGY1-2	TMCO4_HUMAN;.	K	13	ENSP00000294543:Q13K;ENSP00000364269:Q13K;ENSP00000364264:Q13K	ENSP00000294543:Q13K	Q	-	1	0	TMCO4	19979802	0.280000	0.24249	0.792000	0.32020	0.065000	0.16274	1.092000	0.30927	0.849000	0.35215	0.462000	0.41574	CAG	TMCO4	-	NULL		0.607	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO4	HGNC	protein_coding	OTTHUMT00000007658.1	G	NM_181719		20107215	-1	no_errors	ENST00000294543	ensembl	human	known	70_37	missense	SNP	0.927	T
TMEM123	114908	genome.wustl.edu	37	11	102323292	102323292	+	Silent	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:102323292C>T	ENST00000398136.2	-	1	483	c.63G>A	c.(61-63)gcG>gcA	p.A21A	TMEM123_ENST00000361236.3_Silent_p.A21A|TMEM123_ENST00000532161.1_5'Flank|RP11-315O6.1_ENST00000528717.1_RNA|TMEM123_ENST00000525577.1_Intron	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	21					oncosis (GO:0070267)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		CCCCCAGCAGCGCTAGCACCT	0.721																																																	0													7.0	11.0	10.0					11																	102323292		1902	4060	5962	SO:0001819	synonymous_variant	114908			AL050161	CCDS41702.1	11q22.1	2014-01-02			ENSG00000152558	ENSG00000152558			30138	protein-coding gene	gene with protein product	"""pro oncosis receptor inducing membrane injury gene"""	606356				11481458, 24318988	Standard	NM_052932		Approved	PORIMIN, KCT3	uc001pha.3	Q8N131	OTTHUMG00000167326	ENST00000398136.2:c.63G>A	11.37:g.102323292C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IWS2|Q96QV2	Silent	SNP	NULL	p.A21	ENST00000398136.2	37	c.63	CCDS41702.1	11																																																																																			TMEM123	-	NULL		0.721	TMEM123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM123	HGNC	protein_coding	OTTHUMT00000394178.1	C	NM_052932		102323292	-1	no_errors	ENST00000398136	ensembl	human	known	70_37	silent	SNP	0.153	T
TMEM132D	121256	genome.wustl.edu	37	12	130184363	130184363	+	Silent	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr12:130184363G>A	ENST00000422113.2	-	2	1286	c.960C>T	c.(958-960)ttC>ttT	p.F320F	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	320					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACCTCAACGTGAAGCGATCTT	0.488																																																	0													107.0	96.0	100.0					12																	130184363		2203	4300	6503	SO:0001819	synonymous_variant	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.960C>T	12.37:g.130184363G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	NULL	p.F320	ENST00000422113.2	37	c.960	CCDS9266.1	12																																																																																			TMEM132D	-	NULL		0.488	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	G	NM_133448		130184363	-1	no_errors	ENST00000422113	ensembl	human	known	70_37	silent	SNP	1.000	A
TMPRSS3	64699	genome.wustl.edu	37	21	43802067	43802067	+	Intron	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr21:43802067C>G	ENST00000291532.3	-	9	1908				TMPRSS3_ENST00000474596.1_Intron|TMPRSS3_ENST00000398397.3_3'UTR|TMPRSS3_ENST00000380399.1_Intron|TMPRSS3_ENST00000398405.1_Intron|TMPRSS3_ENST00000433957.2_Intron	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3						cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						ttattaatatctgacaaggat	0.378																																																	0													30.0	32.0	31.0					21																	43802067		2203	4300	6503	SO:0001627	intron_variant	64699			AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.952+106G>C	21.37:g.43802067C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSJ6|Q5USC7|Q6ZMC3	RNA	SNP	-	NULL	ENST00000291532.3	37	NULL	CCDS13686.1	21																																																																																			TMPRSS3	-	-		0.378	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS3	HGNC	protein_coding	OTTHUMT00000195347.1	C			43802067	-1	no_errors	ENST00000478680	ensembl	human	known	70_37	rna	SNP	0.001	G
TOPORS	10210	genome.wustl.edu	37	9	32542047	32542047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr9:32542047G>A	ENST00000360538.2	-	3	2592	c.2476C>T	c.(2476-2478)Caa>Taa	p.Q826*	TOPORS_ENST00000379858.1_Nonsense_Mutation_p.Q761*	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	826	Interaction with TOP1.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		GAAGATTTTTGGTAATGACTG	0.398																																																	0													141.0	137.0	138.0					9																	32542047		2203	4300	6503	SO:0001587	stop_gained	10210			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2476C>T	9.37:g.32542047G>A	ENSP00000353735:p.Gln826*	Somatic		WXS	Illumina HiSeq	Phase_IV	O43273|Q6P987|Q9NS55|Q9UNR9	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Q826*	ENST00000360538.2	37	c.2476	CCDS6527.1	9	.	.	.	.	.	.	.	.	.	.	G	37	6.093792	0.97276	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	.	.	.	5.61	3.63	0.41609	.	0.482941	0.18048	N	0.153397	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-2.6886	10.4513	0.44524	0.0796:0.1338:0.7866:0.0	.	.	.	.	X	826;761	.	ENSP00000353735:Q826X	Q	-	1	0	TOPORS	32532047	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.631000	0.37092	1.470000	0.48102	0.650000	0.86243	CAA	TOPORS	-	NULL		0.398	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TOPORS	HGNC	protein_coding	OTTHUMT00000052007.1	G	NM_005802		32542047	-1	no_errors	ENST00000360538	ensembl	human	known	70_37	nonsense	SNP	0.646	A
TOX4	9878	genome.wustl.edu	37	14	21961414	21961414	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr14:21961414G>A	ENST00000405508.1	+	8	1915	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	TOX4_ENST00000262709.3_Missense_Mutation_p.E547K|TOX4_ENST00000448790.2_Missense_Mutation_p.E524K			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	547						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TGTAGTTCCTGAGGTGAGCCT	0.443																																																	0													60.0	59.0	59.0					14																	21961414		2201	4300	6501	SO:0001583	missense	9878			AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1639G>A	14.37:g.21961414G>A	ENSP00000385102:p.Glu547Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E547K	ENST00000405508.1	37	c.1639	CCDS32043.1	14	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333342	0.81801	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.12672	2.66;2.66;2.68	4.99	4.99	0.66335	.	0.552015	0.19296	N	0.117774	T	0.17280	0.0415	L	0.42245	1.32	0.44477	D	0.997419	B;B	0.24258	0.1;0.1	B;B	0.30316	0.114;0.114	T	0.03463	-1.1034	10	0.54805	T	0.06	.	17.5446	0.87857	0.0:0.0:1.0:0.0	.	524;547	B4DPY8;O94842	.;TOX4_HUMAN	K	547;547;524;475	ENSP00000385102:E547K;ENSP00000262709:E547K;ENSP00000393080:E524K	ENSP00000262709:E547K	E	+	1	0	TOX4	21031254	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.414000	0.73318	2.750000	0.94351	0.455000	0.32223	GAG	TOX4	-	NULL		0.443	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOX4	HGNC	protein_coding	OTTHUMT00000317287.2	G	NM_014828		21961414	+1	no_errors	ENST00000262709	ensembl	human	known	70_37	missense	SNP	1.000	A
TRPC5	7224	genome.wustl.edu	37	X	111090481	111090481	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:111090481G>A	ENST00000262839.2	-	6	2479	c.1561C>T	c.(1561-1563)Ctc>Ttc	p.L521F		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	521					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TAGATAAAGAGGAATTTGAGG	0.443																																																	0													158.0	142.0	147.0					X																	111090481		2203	4300	6503	SO:0001583	missense	7224			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1561C>T	X.37:g.111090481G>A	ENSP00000262839:p.Leu521Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.L521F	ENST00000262839.2	37	c.1561	CCDS14561.1	X	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477785	0.63849	.	.	ENSG00000072315	ENST00000262839	D	0.98835	-5.17	5.38	5.38	0.77491	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97742	0.9259	N	0.26092	0.79	0.80722	D	1	P;P	0.45827	0.763;0.867	P;P	0.59643	0.582;0.861	D	0.96841	0.9618	10	0.07813	T	0.8	-11.6088	18.3004	0.90162	0.0:0.0:1.0:0.0	.	522;521	Q59G51;Q9UL62	.;TRPC5_HUMAN	F	521	ENSP00000262839:L521F	ENSP00000262839:L521F	L	-	1	0	TRPC5	110977137	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.814000	0.99346	2.261000	0.74972	0.436000	0.28706	CTC	TRPC5	-	pfam_Ion_trans_dom,tigrfam_TRP_channel		0.443	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5	HGNC	protein_coding	OTTHUMT00000057945.1	G	NM_012471		111090481	-1	no_errors	ENST00000262839	ensembl	human	known	70_37	missense	SNP	1.000	A
TRPM1	4308	genome.wustl.edu	37	15	31334414	31334414	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr15:31334414C>G	ENST00000256552.6	-	17	1974	c.1827G>C	c.(1825-1827)aaG>aaC	p.K609N	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.K626N|TRPM1_ENST00000397795.2_Missense_Mutation_p.K587N	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		tcttctttttctttttcttcC	0.473																																																	0													42.0	44.0	43.0					15																	31334414		2038	4204	6242	SO:0001583	missense	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1827G>C	15.37:g.31334414C>G	ENSP00000256552:p.Lys609Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom	p.K626N	ENST00000256552.6	37	c.1878	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796997	0.70567	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.74842	-0.88;-0.88;-0.88	4.72	2.73	0.32206	.	0.000000	0.85682	D	0.000000	T	0.74336	0.3703	L	0.50333	1.59	0.53688	D	0.999975	B;P	0.46656	0.336;0.882	B;P	0.52159	0.257;0.691	T	0.73065	-0.4100	10	0.87932	D	0	-31.0941	8.2333	0.31612	0.1566:0.7583:0.0:0.0852	.	581;587	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	N	587;626;609;587	ENSP00000380897:K587N;ENSP00000437849:K626N;ENSP00000256552:K609N	ENSP00000256552:K609N	K	-	3	2	TRPM1	29121706	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.581000	0.46077	0.443000	0.26582	0.655000	0.94253	AAG	TRPM1	-	NULL		0.473	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	C	NM_002420		31334414	-1	no_errors	ENST00000542188	ensembl	human	known	70_37	missense	SNP	1.000	G
TSSC2	650368	genome.wustl.edu	37	11	3430130	3430130	+	RNA	SNP	G	G	C	rs575182221		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:3430130G>C	ENST00000529482.1	+	0	2259									tumor suppressing subtransferable candidate 2 pseudogene																		AAATCCTTTCGAGCAGCGCCT	0.547																																																	0																																												7261					11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3430130G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000529482.1	37	NULL		11																																																																																			TSSC2	-	-		0.547	TSSC2-003	KNOWN	basic	processed_transcript	TSSC2	HGNC	pseudogene	OTTHUMT00000392020.1	G			3430130	+1	no_errors	ENST00000529482	ensembl	human	known	70_37	rna	SNP	0.000	C
TTF2	8458	genome.wustl.edu	37	1	117638784	117638784	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:117638784C>T	ENST00000369466.4	+	20	3093	c.3049C>T	c.(3049-3051)Cag>Tag	p.Q1017*	MIR942_ENST00000401111.1_RNA	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	1017	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CATTGTCTCTCAGTGGACCAA	0.413																																																	0													100.0	91.0	94.0					1																	117638784		2203	4300	6503	SO:0001587	stop_gained	8458			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.3049C>T	1.37:g.117638784C>T	ENSP00000358478:p.Gln1017*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q1017*	ENST00000369466.4	37	c.3049	CCDS892.1	1	.	.	.	.	.	.	.	.	.	.	C	44	10.572236	0.99430	.	.	ENSG00000116830	ENST00000369466	.	.	.	5.1	5.1	0.69264	.	0.000000	0.35585	N	0.003105	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.4834	16.061	0.80838	0.0:1.0:0.0:0.0	.	.	.	.	X	1017	.	ENSP00000358478:Q1017X	Q	+	1	0	TTF2	117440307	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.320000	0.79064	2.664000	0.90586	0.455000	0.32223	CAG	TTF2	-	pfscan_Helicase_C		0.413	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF2	HGNC	protein_coding	OTTHUMT00000033277.3	C			117638784	+1	no_errors	ENST00000369466	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TUT1	64852	genome.wustl.edu	37	11	62342749	62342749	+	Silent	SNP	C	C	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:62342749C>A	ENST00000476907.1	-	9	3133	c.2442G>T	c.(2440-2442)ctG>ctT	p.L814L	MIR3654_ENST00000496634.2_Intron|EEF1G_ENST00000329251.4_5'Flank|EEF1G_ENST00000532986.1_5'Flank|EEF1G_ENST00000378019.3_5'Flank|TUT1_ENST00000308436.7_Silent_p.L852L			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	814					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TCAGTCCTTTCAGCTCCTGGG	0.632																																																	0													95.0	86.0	89.0					11																	62342749		2202	4299	6501	SO:0001819	synonymous_variant	64852			BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.2442G>T	11.37:g.62342749C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Silent	SNP	pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L852	ENST00000476907.1	37	c.2556		11																																																																																			TUT1	-	NULL		0.632	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	TUT1	HGNC	protein_coding	OTTHUMT00000351319.2	C	NM_022830		62342749	-1	no_errors	ENST00000308436	ensembl	human	known	70_37	silent	SNP	0.925	A
TUT1	64852	genome.wustl.edu	37	11	62342961	62342961	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:62342961C>G	ENST00000476907.1	-	9	2921	c.2230G>C	c.(2230-2232)Gag>Cag	p.E744Q	MIR3654_ENST00000496634.2_Intron|EEF1G_ENST00000329251.4_5'Flank|EEF1G_ENST00000532986.1_5'Flank|EEF1G_ENST00000378019.3_5'Flank|TUT1_ENST00000308436.7_Missense_Mutation_p.E782Q			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	744					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGGGCTGCCTCATGTCCCTTG	0.682																																																	0													50.0	56.0	54.0					11																	62342961		2202	4299	6501	SO:0001583	missense	64852			BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.2230G>C	11.37:g.62342961C>G	ENSP00000419607:p.Glu744Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E782Q	ENST00000476907.1	37	c.2344		11	.	.	.	.	.	.	.	.	.	.	C	9.090	1.001488	0.19121	.	.	ENSG00000149016	ENST00000308436;ENST00000476907	T;T	0.37752	1.18;1.2	4.49	2.6	0.31112	.	2.096070	0.02102	N	0.054041	T	0.32071	0.0817	L	0.32530	0.975	0.09310	N	1	B;B	0.15141	0.012;0.006	B;B	0.13407	0.004;0.009	T	0.24190	-1.0167	10	0.52906	T	0.07	-0.1923	7.6495	0.28340	0.0:0.7406:0.1664:0.093	.	744;782	Q9H6E5;F5H0R1	STPAP_HUMAN;.	Q	782;744	ENSP00000308000:E782Q;ENSP00000419607:E744Q	ENSP00000308000:E782Q	E	-	1	0	TUT1	62099537	0.000000	0.05858	0.036000	0.18154	0.601000	0.36947	0.606000	0.24194	0.512000	0.28257	0.655000	0.94253	GAG	TUT1	-	NULL		0.682	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	TUT1	HGNC	protein_coding	OTTHUMT00000351319.2	C	NM_022830		62342961	-1	no_errors	ENST00000308436	ensembl	human	known	70_37	missense	SNP	0.017	G
TUT1	64852	genome.wustl.edu	37	11	62343193	62343193	+	Missense_Mutation	SNP	C	C	G	rs143375337	byFrequency	TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr11:62343193C>G	ENST00000476907.1	-	9	2689	c.1998G>C	c.(1996-1998)caG>caC	p.Q666H	MIR3654_ENST00000496634.2_Intron|EEF1G_ENST00000329251.4_5'Flank|EEF1G_ENST00000532986.1_5'Flank|EEF1G_ENST00000378019.3_5'Flank|TUT1_ENST00000308436.7_Missense_Mutation_p.Q704H			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	666					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGCAGTTTTTCTGTCCATCTA	0.532													C|||	6	0.00119808	0.0038	0.0014	5008	,	,		22167	0.0		0.0	False		,,,				2504	0.0																0								C	HIS/GLN	8,4396	14.3+/-33.2	0,8,2194	423.0	423.0	423.0		2112	1.8	0.0	11	dbSNP_134	423	0,8598		0,0,4299	yes	missense	TUT1	NM_022830.2	24	0,8,6493	GG,GC,CC		0.0,0.1817,0.0615	benign	704/913	62343193	8,12994	2202	4299	6501	SO:0001583	missense	64852			BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.1998G>C	11.37:g.62343193C>G	ENSP00000419607:p.Gln666His	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q704H	ENST00000476907.1	37	c.2112		11	.	.	.	.	.	.	.	.	.	.	C	5.619	0.298959	0.10622	0.001817	0.0	ENSG00000149016	ENST00000308436;ENST00000476907	T;T	0.38887	1.11;1.13	5.21	1.78	0.24846	.	0.425088	0.25558	N	0.029850	T	0.22589	0.0545	N	0.24115	0.695	0.09310	N	1	B;B	0.16166	0.016;0.003	B;B	0.14578	0.011;0.004	T	0.20174	-1.0283	10	0.87932	D	0	-1.9249	1.0108	0.01497	0.176:0.4242:0.1709:0.2289	.	666;704	Q9H6E5;F5H0R1	STPAP_HUMAN;.	H	704;666	ENSP00000308000:Q704H;ENSP00000419607:Q666H	ENSP00000308000:Q704H	Q	-	3	2	TUT1	62099769	0.000000	0.05858	0.002000	0.10522	0.378000	0.30076	0.806000	0.27126	0.180000	0.19960	0.655000	0.94253	CAG	TUT1	-	NULL		0.532	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	TUT1	HGNC	protein_coding	OTTHUMT00000351319.2	C	NM_022830		62343193	-1	no_errors	ENST00000308436	ensembl	human	known	70_37	missense	SNP	0.006	G
UBR4	23352	genome.wustl.edu	37	1	19504090	19504090	+	Silent	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:19504090G>A	ENST00000375254.3	-	19	2529	c.2502C>T	c.(2500-2502)gtC>gtT	p.V834V	UBR4_ENST00000375217.2_Silent_p.V834V|UBR4_ENST00000375226.2_Silent_p.V834V|UBR4_ENST00000375267.2_Silent_p.V834V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	834					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGATGATCTGGACAAAAAGCG	0.502																																																	0													106.0	101.0	103.0					1																	19504090		2203	4300	6503	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2502C>T	1.37:g.19504090G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.V834	ENST00000375254.3	37	c.2502	CCDS189.1	1																																																																																			UBR4	-	NULL		0.502	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	G	NM_020765		19504090	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	silent	SNP	1.000	A
UHRF1BP1	54887	genome.wustl.edu	37	6	34835377	34835377	+	Silent	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr6:34835377G>A	ENST00000192788.5	+	17	3873	c.3702G>A	c.(3700-3702)ctG>ctA	p.L1234L	UHRF1BP1_ENST00000452449.2_Silent_p.L1234L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1234							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GGCAGTTCCTGCATGGACAGT	0.537																																																	0													89.0	90.0	90.0					6																	34835377		2107	4226	6333	SO:0001819	synonymous_variant	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3702G>A	6.37:g.34835377G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NXE0	Silent	SNP	NULL	p.L1234	ENST00000192788.5	37	c.3702	CCDS43455.1	6																																																																																			UHRF1BP1	-	NULL		0.537	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	G	NM_017754		34835377	+1	no_errors	ENST00000192788	ensembl	human	known	70_37	silent	SNP	0.997	A
UQCR11	10975	genome.wustl.edu	37	19	1605403	1605403	+	Silent	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr19:1605403C>T	ENST00000591899.3	-	1	77	c.6G>A	c.(4-6)gtG>gtA	p.V2V	UQCR11_ENST00000593029.1_5'UTR|UQCR11_ENST00000585937.1_Silent_p.V2V|UQCR11_ENST00000589880.1_Silent_p.V2V|UQCR11_ENST00000585671.1_Silent_p.V2V	NM_006830.3	NP_006821.1	O14957	QCR10_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit XI	2					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	electron carrier activity (GO:0009055)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|lung(2)|ovary(1)|prostate(1)	5						GGAACCGGGTCACCATCGCGG	0.766																																																	0													18.0	19.0	19.0					19																	1605403		2190	4283	6473	SO:0001819	synonymous_variant	10975			D55636	CCDS12073.1	19p13.3	2011-07-04	2010-01-26	2010-01-26	ENSG00000127540	ENSG00000127540		"""Mitochondrial respiratory chain complex / Complex III"""	30862	protein-coding gene	gene with protein product	"""complex III subunit 10"""	609711	"""ubiquinol-cytochrome c reductase, 6.4kDa subunit"""	UQCR		9161705	Standard	NM_006830		Approved	QCR10	uc002ltm.3	O14957		ENST00000591899.3:c.6G>A	19.37:g.1605403C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R542|D6W5Z4|Q9UEA3|Q9UPK4	Silent	SNP	pfam_Ubiquinol_cytC_Rdtase_cplx_6.4,superfamily_Ubiquinol_cytC_Rdtase_cplx_6.4	p.V2	ENST00000591899.3	37	c.6	CCDS12073.1	19																																																																																			UQCR11	-	pfam_Ubiquinol_cytC_Rdtase_cplx_6.4,superfamily_Ubiquinol_cytC_Rdtase_cplx_6.4		0.766	UQCR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCR11	Uniprot_genename	protein_coding	OTTHUMT00000449668.3	C	NM_006830		1605403	-1	no_errors	ENST00000262946	ensembl	human	known	70_37	silent	SNP	0.996	T
WDFY4	57705	genome.wustl.edu	37	10	49931577	49931577	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr10:49931577G>T	ENST00000325239.5	+	4	583	c.556G>T	c.(556-558)Gag>Tag	p.E186*	WDFY4_ENST00000413659.2_Nonsense_Mutation_p.E186*|WDFY4_ENST00000360890.2_Nonsense_Mutation_p.E186*	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	186						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						TGAGCTTCTTGAGAGTGATCT	0.517																																																	0													121.0	105.0	110.0					10																	49931577		692	1591	2283	SO:0001587	stop_gained	57705			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.556G>T	10.37:g.49931577G>T	ENSP00000320563:p.Glu186*	Somatic		WXS	Illumina HiSeq	Phase_IV	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E186*	ENST00000325239.5	37	c.556	CCDS44385.1	10	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248149	0.59103	.	.	ENSG00000128815	ENST00000360890;ENST00000454161;ENST00000426033;ENST00000325239;ENST00000413659	.	.	.	4.7	3.78	0.43462	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	12.4049	0.55434	0.0:0.1687:0.8313:0.0	.	.	.	.	X	186;195;186;186;186	.	ENSP00000320563:E186X	E	+	1	0	WDFY4	49601583	0.979000	0.34478	0.007000	0.13788	0.277000	0.26821	3.253000	0.51469	0.960000	0.38005	0.455000	0.32223	GAG	WDFY4	-	superfamily_ARM-type_fold		0.517	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		G	XM_033379		49931577	+1	no_errors	ENST00000325239	ensembl	human	known	70_37	nonsense	SNP	0.090	T
CFAP44	55779	genome.wustl.edu	37	3	113099823	113099823	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr3:113099823G>A	ENST00000295868.2	-	16	2137	c.1975C>T	c.(1975-1977)Cat>Tat	p.H659Y	WDR52_ENST00000393845.2_Missense_Mutation_p.H659Y|WDR52_ENST00000475568.1_5'Flank	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ACTACATCATGATCATCCTCT	0.323																																																	0													101.0	99.0	100.0					3																	113099823		2201	4296	6497	SO:0001583	missense	55779																														ENST00000295868.2:c.1975C>T	3.37:g.113099823G>A	ENSP00000295868:p.His659Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H659Y	ENST00000295868.2	37	c.1975	CCDS2972.1	3	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.436189	0.00182	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.16897	2.31;2.31	5.32	0.785	0.18584	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.04907	0.0132	N	0.04508	-0.205	0.09310	N	1	B	0.24533	0.105	B	0.22601	0.04	T	0.39210	-0.9625	9	0.02654	T	1	.	1.6944	0.02859	0.2466:0.1518:0.447:0.1546	.	659	Q96MT7	WDR52_HUMAN	Y	659	ENSP00000377428:H659Y;ENSP00000295868:H659Y	ENSP00000295868:H659Y	H	-	1	0	WDR52	114582513	0.008000	0.16893	0.003000	0.11579	0.016000	0.09150	0.629000	0.24538	0.302000	0.22762	-0.319000	0.08680	CAT	WDR52	-	superfamily_WD40_repeat_dom		0.323	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR52	HGNC	protein_coding	OTTHUMT00000354128.3	G			113099823	-1	no_errors	ENST00000393845	ensembl	human	known	70_37	missense	SNP	0.000	A
WIPI2	26100	genome.wustl.edu	37	7	5254158	5254158	+	Intron	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr7:5254158G>C	ENST00000288828.4	+	4	443				WIPI2_ENST00000485854.1_Intron|WIPI2_ENST00000404704.3_Intron|WIPI2_ENST00000382384.2_Intron|WIPI2_ENST00000484262.1_Silent_p.V9V|WIPI2_ENST00000401525.3_Intron	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2						autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TTCCCTTTGTGATTTCAGCCG	0.507																																																	0													214.0	185.0	195.0					7																	5254158		2203	4300	6503	SO:0001627	intron_variant	26100				CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.212-8G>C	7.37:g.5254158G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.V9	ENST00000288828.4	37	c.27	CCDS5339.1	7																																																																																			WIPI2	-	NULL		0.507	WIPI2-001	KNOWN	basic|CCDS	protein_coding	WIPI2	HGNC	protein_coding	OTTHUMT00000241669.2	G	NM_015610		5254158	+1	no_errors	ENST00000484262	ensembl	human	known	70_37	silent	SNP	0.000	C
ZAR1L	646799	genome.wustl.edu	37	13	32885503	32885503	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr13:32885503G>A	ENST00000533490.2	-	3	978	c.560C>T	c.(559-561)tCg>tTg	p.S187L	ZAR1L_ENST00000345108.6_Missense_Mutation_p.S187L			A6NP61	ZAR1L_HUMAN	zygote arrest 1-like	187						cytoplasm (GO:0005737)				NS(1)|kidney(1)	2						TTTCTCCCCCGATTCCTCCAG	0.692																																																	0													18.0	21.0	20.0					13																	32885503		692	1591	2283	SO:0001583	missense	646799				CCDS45023.1	13q13.1	2014-02-20			ENSG00000189167	ENSG00000189167			37116	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 7"""					18442940	Standard	NM_001136571		Approved	Z3CXXC7	uc010abc.1	A6NP61	OTTHUMG00000016694	ENST00000533490.2:c.560C>T	13.37:g.32885503G>A	ENSP00000437289:p.Ser187Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RV03|B7ZBU2	Missense_Mutation	SNP	NULL	p.S187L	ENST00000533490.2	37	c.560	CCDS45023.1	13	.	.	.	.	.	.	.	.	.	.	g	10.04	1.242163	0.22796	.	.	ENSG00000189167	ENST00000345108	.	.	.	4.75	-2.33	0.06724	.	1.563330	0.04295	N	0.346260	T	0.15349	0.0370	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19679	-1.0298	9	0.27082	T	0.32	-0.0582	6.8199	0.23851	0.2253:0.2872:0.4876:0.0	.	187	A6NP61	ZAR1L_HUMAN	L	187	.	ENSP00000344616:S187L	S	-	2	0	ZAR1L	31783503	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.744000	0.04839	-0.022000	0.13986	-0.364000	0.07487	TCG	ZAR1L	-	NULL		0.692	ZAR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAR1L	HGNC	protein_coding	OTTHUMT00000044403.5	G			32885503	-1	no_errors	ENST00000345108	ensembl	human	known	70_37	missense	SNP	0.000	A
ZBTB1	22890	genome.wustl.edu	37	14	64989628	64989628	+	Missense_Mutation	SNP	G	G	A	rs143630259		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr14:64989628G>A	ENST00000554015.1	+	4	1837	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	ZBTB1_ENST00000394712.2_Missense_Mutation_p.R469Q|ZBTB1_ENST00000358738.3_Missense_Mutation_p.R469Q|RP11-973N13.4_ENST00000554918.1_RNA			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	469					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CATGCTCAACGATGTGGCGAG	0.423																																																	0								G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	113.0	111.0	112.0		1406,1406	6.0	0.1	14	dbSNP_134	112	0,8600		0,0,4300	no	missense,missense	ZBTB1	NM_001123329.1,NM_014950.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	469/714,469/645	64989628	1,13005	2203	4300	6503	SO:0001583	missense	22890			AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.1406G>A	14.37:g.64989628G>A	ENSP00000451000:p.Arg469Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6S8|Q86SW8	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R469Q	ENST00000554015.1	37	c.1406	CCDS45126.1	14	.	.	.	.	.	.	.	.	.	.	G	8.475	0.858425	0.17178	2.27E-4	0.0	ENSG00000126804	ENST00000554015;ENST00000358738;ENST00000394712	T;T;T	0.10763	2.84;3.34;2.84	6.03	6.03	0.97812	.	0.335233	0.29139	N	0.013022	T	0.09468	0.0233	L	0.27053	0.805	0.33366	D	0.572894	D;P	0.54047	0.964;0.94	B;B	0.43155	0.41;0.232	T	0.07501	-1.0769	10	0.52906	T	0.07	-25.1146	10.8404	0.46710	0.0714:0.1418:0.7868:0.0	.	469;469	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	Q	469	ENSP00000451000:R469Q;ENSP00000351587:R469Q;ENSP00000378201:R469Q	ENSP00000351587:R469Q	R	+	2	0	ZBTB1	64059381	1.000000	0.71417	0.120000	0.21714	0.021000	0.10359	4.961000	0.63681	2.861000	0.98227	0.655000	0.94253	CGA	ZBTB1	-	NULL		0.423	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB1	HGNC	protein_coding	OTTHUMT00000411912.1	G			64989628	+1	no_errors	ENST00000394712	ensembl	human	known	70_37	missense	SNP	0.760	A
ZCCHC13	389874	genome.wustl.edu	37	X	73524601	73524601	+	Nonstop_Mutation	SNP	G	G	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:73524601G>T	ENST00000339534.2	+	1	577	c.500G>T	c.(499-501)tGa>tTa	p.*167L		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	0							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						ATGTCCCAGTGAGGTTACCAC	0.512																																																	0													38.0	33.0	35.0					X																	73524601		2203	4300	6503	SO:0001578	stop_lost	389874			BC021176	CCDS14425.1	Xq13.2	2008-02-05			ENSG00000187969	ENSG00000187969		"""Zinc fingers, CCHC domain containing"""	31749	protein-coding gene	gene with protein product							Standard	NM_203303		Approved	4930513O09RIK, Cnbp2, ZNF9L	uc004ebs.4	Q8WW36	OTTHUMG00000021851	ENST00000339534.2:c.500G>T	X.37:g.73524601G>T	ENSP00000345633:p.*167Leuext*15	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonstop_Mutation	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.*167L	ENST00000339534.2	37	c.500	CCDS14425.1	X	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690083	0.29962	.	.	ENSG00000187969	ENST00000339534	.	.	.	4.32	3.46	0.39613	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6343	0.39798	0.1065:0.0:0.8935:0.0	.	.	.	.	L	167	.	.	X	+	2	2	ZCCHC13	73441326	1.000000	0.71417	0.014000	0.15608	0.186000	0.23388	5.505000	0.66981	1.179000	0.42884	0.529000	0.55759	TGA	ZCCHC13	-	NULL		0.512	ZCCHC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC13	HGNC	protein_coding	OTTHUMT00000057260.1	G	NM_203303		73524601	+1	no_errors	ENST00000339534	ensembl	human	known	70_37	nonstop	SNP	0.994	T
ZNF432	9668	genome.wustl.edu	37	19	52537665	52537665	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr19:52537665G>C	ENST00000594154.1	-	5	1479	c.1267C>G	c.(1267-1269)Cat>Gat	p.H423D	ZNF432_ENST00000221315.5_Missense_Mutation_p.H423D			O94892	ZN432_HUMAN	zinc finger protein 432	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCTACTGTATGATTTCTCTGA	0.398																																																	0													104.0	102.0	102.0					19																	52537665		2203	4300	6503	SO:0001583	missense	9668			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1267C>G	19.37:g.52537665G>C	ENSP00000470488:p.His423Asp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H423D	ENST00000594154.1	37	c.1267	CCDS12848.1	19	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382848	0.61845	.	.	ENSG00000256087	ENST00000221315	D	0.81908	-1.55	2.72	2.72	0.32119	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93226	0.7842	H	0.95982	3.75	0.33998	D	0.649903	D	0.76494	0.999	D	0.87578	0.998	D	0.96014	0.9004	9	0.87932	D	0	.	12.5894	0.56436	0.0:0.0:1.0:0.0	.	423	O94892	ZN432_HUMAN	D	423	ENSP00000221315:H423D	ENSP00000221315:H423D	H	-	1	0	ZNF432	57229477	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.534000	0.73833	1.526000	0.49068	0.591000	0.81541	CAT	ZNF432	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF432	HGNC	protein_coding	OTTHUMT00000462410.1	G	NM_014650		52537665	-1	no_errors	ENST00000221315	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF432	9668	genome.wustl.edu	37	19	52538020	52538020	+	Silent	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr19:52538020G>C	ENST00000594154.1	-	5	1124	c.912C>G	c.(910-912)ctC>ctG	p.L304L	ZNF432_ENST00000221315.5_Silent_p.L304L			O94892	ZN432_HUMAN	zinc finger protein 432	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GATGTACAATGAGATTACGCT	0.418																																																	0													110.0	104.0	106.0					19																	52538020		2203	4300	6503	SO:0001819	synonymous_variant	9668			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.912C>G	19.37:g.52538020G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L304	ENST00000594154.1	37	c.912	CCDS12848.1	19																																																																																			ZNF432	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF432	HGNC	protein_coding	OTTHUMT00000462410.1	G	NM_014650		52538020	-1	no_errors	ENST00000221315	ensembl	human	known	70_37	silent	SNP	0.987	C
ZNF630	57232	genome.wustl.edu	37	X	47918789	47918789	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chrX:47918789C>T	ENST00000409324.3	-	5	1268	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	ZNF630_ENST00000276054.4_Missense_Mutation_p.E224K|ZNF630_ENST00000442455.3_Missense_Mutation_p.E334K|ZNF630-AS1_ENST00000436124.1_RNA	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TCAAAACACTCATAGGGTTTC	0.433																																																	0													62.0	58.0	59.0					X																	47918789		2193	4288	6481	SO:0001583	missense	57232			AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1042G>A	X.37:g.47918789C>T	ENSP00000386393:p.Glu348Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WAG4|Q5H8Z5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E348K	ENST00000409324.3	37	c.1042	CCDS35237.2	X	.	.	.	.	.	.	.	.	.	.	.	1.166	-0.642500	0.03531	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.19250	2.16;2.16;2.16	2.31	1.41	0.22369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04815	0.0130	N	0.01081	-1.03	0.09310	N	1	B	0.25850	0.136	B	0.20955	0.032	T	0.38757	-0.9646	9	0.07175	T	0.84	.	4.2028	0.10475	0.0:0.6189:0.0:0.3811	.	348	Q2M218	ZN630_HUMAN	K	334;224;348	ENSP00000393163:E334K;ENSP00000354683:E224K;ENSP00000386393:E348K	ENSP00000354683:E224K	E	-	1	0	ZNF630	47803733	0.000000	0.05858	0.590000	0.28732	0.847000	0.48162	-2.971000	0.00668	0.221000	0.20879	0.544000	0.68410	GAG	ZNF630	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF630	HGNC	protein_coding	OTTHUMT00000327254.1	C	NM_001037735		47918789	-1	no_errors	ENST00000409324	ensembl	human	known	70_37	missense	SNP	0.029	T
ZNF74	7625	genome.wustl.edu	37	22	20755625	20755625	+	Nonsense_Mutation	SNP	G	G	A	rs568434993		TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr22:20755625G>A	ENST00000400451.2	+	4	820	c.306G>A	c.(304-306)tgG>tgA	p.W102*	ZNF74_ENST00000356671.5_Nonsense_Mutation_p.W102*|ZNF74_ENST00000403682.3_Missense_Mutation_p.E74K|ZNF74_ENST00000357502.5_Missense_Mutation_p.E108K|ZNF74_ENST00000405993.1_Intron	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	102	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGGAGCCATGGAGCATGCAGA	0.627																																																	0																																										SO:0001587	stop_gained	7625			X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.306G>A	22.37:g.20755625G>A	ENSP00000383301:p.Trp102*	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W102*	ENST00000400451.2	37	c.306	CCDS42982.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.106639|6.106639	0.97286|0.97286	.|.	.|.	ENSG00000185252|ENSG00000185252	ENST00000403682;ENST00000357502|ENST00000400451;ENST00000356671	.|.	.|.	.|.	3.78|3.78	3.78|3.78	0.43462|0.43462	.|.	.|0.000000	.|0.31484	.|N	.|0.007562	T|.	0.40222|.	0.1108|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26155|.	-1.0111|.	5|.	0.56958|0.02654	D|T	0.05|1	.|.	13.9118|13.9118	0.63871|0.63871	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	K|X	74;108|102	.|.	ENSP00000350101:E108K|ENSP00000349098:W102X	E|W	+|+	1|3	0|0	ZNF74|ZNF74	19085625|19085625	0.355000|0.355000	0.24921|0.24921	0.650000|0.650000	0.29550|0.29550	0.005000|0.005000	0.04900|0.04900	2.572000|2.572000	0.45999|0.45999	2.392000|2.392000	0.81423|0.81423	0.655000|0.655000	0.94253|0.94253	GAG|TGG	ZNF74	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.627	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF74	HGNC	protein_coding	OTTHUMT00000319648.2	G	NM_003426		20755625	+1	no_errors	ENST00000356671	ensembl	human	known	70_37	nonsense	SNP	0.954	A
ZZZ3	26009	genome.wustl.edu	37	1	78030556	78030556	+	3'UTR	SNP	G	G	C			TCGA-EK-A2RC-01A-11D-A18J-09	TCGA-EK-A2RC-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd67384e-9fac-44c1-879d-cddd500848ca	97f1a69b-1d71-423b-8bc9-a9722681d315	g.chr1:78030556G>C	ENST00000370801.3	-	0	3956				ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3						chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTAATGTTGTGAATTAGAAAC	0.299																																																	0																																										SO:0001624	3_prime_UTR_variant	26009			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.*769C>G	1.37:g.78030556G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	RNA	SNP	-	NULL	ENST00000370801.3	37	NULL	CCDS677.1	1																																																																																			ZZZ3	-	-		0.299	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZZ3	HGNC	protein_coding	OTTHUMT00000026615.1	G	NM_015534		78030556	-1	no_errors	ENST00000476275	ensembl	human	known	70_37	rna	SNP	1.000	C
