#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_EVS_AA	i_EVS_All	i_EVS_EA	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_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
A2ML1	144568	genome.wustl.edu	37	12	8975820	8975820	+	Silent	SNP	C	C	A	rs201185025		TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr12:8975820C>A	ENST00000299698.7	+	2	285	c.105C>A	c.(103-105)tcC>tcA	p.S35S	A2ML1-AS1_ENST00000537288.1_RNA|A2ML1-AS2_ENST00000394240.3_RNA	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ATTTCCCCTCCGTTCAGAAGG	0.443																																						dbGAP											0													101.0	100.0	100.0					12																	8975820		1868	4098	5966	-	-	-	SO:0001819	synonymous_variant	0			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.105C>A	12.37:g.8975820C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,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.S35	ENST00000299698.7	37	c.105	CCDS8596.2	12																																																																																			A2ML1	-	NULL	ENSG00000166535		0.443	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2ML1	HGNC	protein_coding	OTTHUMT00000250304.3	227	0.00	0	C	NM_144670		8975820	8975820	+1	no_errors	ENST00000299698	ensembl	human	known	69_37n	silent	184	30.04	79	SNP	0.801	A
ATG2A	23130	genome.wustl.edu	37	11	64668020	64668020	+	Silent	SNP	C	C	T	rs199819471		TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr11:64668020C>T	ENST00000377264.3	-	31	4522	c.4410G>A	c.(4408-4410)acG>acA	p.T1470T	ATG2A_ENST00000421419.2_Silent_p.T1472T	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1470					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGCCCCCCTGCGTGCGCCATG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		15777	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													50.0	55.0	54.0					11																	64668020		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4410G>A	11.37:g.64668020C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.A1274T	ENST00000377264.3	37	c.3820	CCDS31602.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	7.329	0.618509	0.14129	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.7	-5.79	0.02354	.	.	.	.	.	T	0.42877	0.1222	.	.	.	0.34789	D	0.73556	.	.	.	.	.	.	T	0.51973	-0.8637	4	.	.	.	.	8.7488	0.34602	0.0:0.1804:0.5161:0.3035	.	.	.	.	T	1274	.	.	A	-	1	0	ATG2A	64424596	0.000000	0.05858	0.009000	0.14445	0.880000	0.50808	-3.767000	0.00371	-0.863000	0.04084	-0.254000	0.11334	GCA	ATG2A	-	NULL	ENSG00000110046		0.647	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	HGNC	protein_coding	OTTHUMT00000143224.1	54	0.00	0	C	NM_015104		64668020	64668020	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000418259	ensembl	human	novel	69_37n	missense	28	37.78	17	SNP	0.008	T
ALG9	79796	genome.wustl.edu	37	11	111740957	111740957	+	3'UTR	SNP	G	G	A			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr11:111740957G>A	ENST00000524880.1	-	0	1260				ALG9_ENST00000527377.1_5'Flank|ALG9_ENST00000531154.1_5'UTR|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000398006.2_5'UTR			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		TCACCTACTGGCTCCCAGTAG	0.398																																						dbGAP											0													72.0	72.0	72.0					11																	111740957		1836	4098	5934	-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000524880.1:c.*98C>T	11.37:g.111740957G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	RNA	SNP	-	NULL	ENST00000524880.1	37	NULL		11	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213951	0.39102	.	.	ENSG00000086848	ENST00000428306	.	.	.	5.12	4.19	0.49359	.	0.052235	0.85682	D	0.000000	D	0.86908	0.6046	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	D	0.91224	0.5009	9	0.87932	D	0	-9.9916	15.8923	0.79309	0.0:0.1359:0.8641:0.0	.	90;90	Q9H6U8-3;Q9H6U8	.;ALG9_HUMAN	S	323	.	ENSP00000387627:P323S	P	-	1	0	ALG9	111246167	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	9.277000	0.95755	1.265000	0.44215	-0.176000	0.13171	CCA	ALG9	-	-	ENSG00000086848		0.398	ALG9-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	ALG9	HGNC	protein_coding	OTTHUMT00000413376.1	72	0.00	0	G	NM_024740		111740957	111740957	-1	no_errors	ENST00000524386	ensembl	human	known	69_37n	rna	80	11.11	10	SNP	1.000	A
C1orf194	127003	genome.wustl.edu	37	1	109649198	109649198	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr1:109649198T>C	ENST00000369948.3	-	4	473	c.398A>G	c.(397-399)aAc>aGc	p.N133S	C1orf194_ENST00000369945.3_Missense_Mutation_p.N94S|C1orf194_ENST00000369949.4_Missense_Mutation_p.N121S			Q5T5A4	CA194_HUMAN	chromosome 1 open reading frame 194	133										large_intestine(2)|lung(2)|ovary(2)	6						CTTTTTAGGGTTGATCCAGTG	0.488																																						dbGAP											0													211.0	192.0	198.0					1																	109649198		1568	3582	5150	-	-	-	SO:0001583	missense	0				CCDS41364.1	1p13.3	2011-03-31			ENSG00000179902	ENSG00000179902			32331	protein-coding gene	gene with protein product							Standard	NM_001122961		Approved		uc009wew.3	Q5T5A4	OTTHUMG00000011735	ENST00000369948.3:c.398A>G	1.37:g.109649198T>C	ENSP00000358964:p.Asn133Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T5A3	Missense_Mutation	SNP	pfam_DUF3695	p.N133S	ENST00000369948.3	37	c.398		1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.273732	0.23221	.	.	ENSG00000179902	ENST00000369949;ENST00000369948;ENST00000369945	.	.	.	4.81	3.66	0.41972	.	0.083115	0.46442	D	0.000282	T	0.05410	0.0143	N	0.22421	0.69	0.28479	N	0.91506	B;P	0.43094	0.02;0.799	B;B	0.34652	0.027;0.187	T	0.16808	-1.0390	9	0.12103	T	0.63	1.0753	7.6086	0.28115	0.0:0.1018:0.0:0.8982	.	121;133	Q5T5A4-2;Q5T5A4	.;CA194_HUMAN	S	121;133;94	.	ENSP00000358961:N94S	N	-	2	0	C1orf194	109450721	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.562000	0.23531	1.801000	0.52704	0.254000	0.18369	AAC	C1orf194	-	NULL	ENSG00000179902		0.488	C1orf194-001	KNOWN	basic|appris_principal	protein_coding	C1orf194	HGNC	protein_coding	OTTHUMT00000032416.2	342	0.00	0	T	NM_001122961		109649198	109649198	-1	no_errors	ENST00000369948	ensembl	human	known	69_37n	missense	248	32.71	123	SNP	1.000	C
C6	729	genome.wustl.edu	37	5	41149444	41149444	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr5:41149444C>T	ENST00000263413.3	-	17	2786	c.2522G>A	c.(2521-2523)cGc>cAc	p.R841H	C6_ENST00000337836.5_Missense_Mutation_p.R841H	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	841	C5b-binding domain.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTCTAACTGGCGGCCGTCTTG	0.413																																						dbGAP											0													142.0	139.0	140.0					5																	41149444		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2522G>A	5.37:g.41149444C>T	ENSP00000263413:p.Arg841His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.R841H	ENST00000263413.3	37	c.2522	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	c	9.038	0.988895	0.18966	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.60797	0.16;0.16	5.85	-0.221	0.13126	.	0.917256	0.09555	N	0.786356	T	0.28896	0.0717	N	0.08118	0	0.09310	N	1	P	0.51147	0.942	B	0.41202	0.35	T	0.10660	-1.0620	10	0.29301	T	0.29	-1.6055	1.04	0.01557	0.2607:0.1176:0.3944:0.2273	.	841	P13671	CO6_HUMAN	H	841	ENSP00000338861:R841H;ENSP00000263413:R841H	ENSP00000263413:R841H	R	-	2	0	C6	41185201	0.000000	0.05858	0.774000	0.31636	0.152000	0.21847	0.029000	0.13666	-0.355000	0.08199	-0.820000	0.03113	CGC	C6	-	NULL	ENSG00000039537		0.413	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	293	0.00	0	C			41149444	41149444	-1	no_errors	ENST00000263413	ensembl	human	known	69_37n	missense	241	28.19	95	SNP	0.177	T
CACNA1E	777	genome.wustl.edu	37	1	181702838	181702838	+	Missense_Mutation	SNP	G	G	A	rs553844010		TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr1:181702838G>A	ENST00000367573.2	+	21	3214	c.3214G>A	c.(3214-3216)Gtc>Atc	p.V1072I	CACNA1E_ENST00000526775.1_Missense_Mutation_p.V1053I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1072I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1023I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V679I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1053I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1004I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1072					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGCGTCACCGTCGCCATCCC	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17990	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													41.0	47.0	45.0					1																	181702838		2186	4269	6455	-	-	-	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3214G>A	1.37:g.181702838G>A	ENSP00000356545:p.Val1072Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.V1072I	ENST00000367573.2	37	c.3214	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	8.331	0.826447	0.16749	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96136	-3.87;-3.87;-3.88;-3.87;-3.92;-3.89;-3.88	4.99	4.06	0.47325	.	0.896057	0.09768	N	0.758315	D	0.87099	0.6093	N	0.08118	0	0.28993	N	0.887956	B;B;B	0.10296	0.0;0.003;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.78178	-0.2305	10	0.22109	T	0.4	.	4.3378	0.11095	0.222:0.0:0.6068:0.1712	.	1053;1072;1072	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	I	1072;1053;1023;1004;679;1053;1072	ENSP00000356542:V1072I;ENSP00000434814:V1053I;ENSP00000350183:V1023I;ENSP00000351101:V1004I;ENSP00000356539:V679I;ENSP00000353222:V1053I;ENSP00000356545:V1072I	ENSP00000350183:V1023I	V	+	1	0	CACNA1E	179969461	1.000000	0.71417	0.682000	0.30024	0.318000	0.28184	3.667000	0.54547	1.086000	0.41228	0.561000	0.74099	GTC	CACNA1E	-	prints_VDCC_R_a1su	ENSG00000198216		0.642	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	32	0.00	0	G	NM_000721		181702838	181702838	+1	no_errors	ENST00000367573	ensembl	human	known	69_37n	missense	43	12.24	6	SNP	0.891	A
CAST	831	genome.wustl.edu	37	5	96086348	96086348	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr5:96086348T>A	ENST00000341926.3	+	18	1399	c.1237T>A	c.(1237-1239)Tgt>Agt	p.C413S	CAST_ENST00000508608.1_Missense_Mutation_p.C459S|CAST_ENST00000509903.1_Missense_Mutation_p.C378S|CAST_ENST00000395813.1_Missense_Mutation_p.C496S|CAST_ENST00000511049.1_Missense_Mutation_p.C399S|CAST_ENST00000504465.1_Missense_Mutation_p.C341S|CAST_ENST00000510756.1_Missense_Mutation_p.C474S|CAST_ENST00000508830.1_Missense_Mutation_p.C496S|CAST_ENST00000338252.3_Missense_Mutation_p.C400S|CAST_ENST00000511782.1_Missense_Mutation_p.C399S|CAST_ENST00000508579.1_Missense_Mutation_p.C128S|CAST_ENST00000515663.1_Missense_Mutation_p.C136S|CAST_ENST00000359176.4_Missense_Mutation_p.C477S|CAST_ENST00000325674.7_Missense_Mutation_p.C461S|CAST_ENST00000395812.2_Missense_Mutation_p.C455S|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000309190.5_Missense_Mutation_p.C391S			P20810	ICAL_HUMAN	calpastatin	413					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GACCTCCATGTGTAGTATACA	0.512																																						dbGAP											0													83.0	74.0	77.0					5																	96086348		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.1237T>A	5.37:g.96086348T>A	ENSP00000339914:p.Cys413Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Nonsense_Mutation	SNP	pfam_Prot_inh_calpain	p.C164*	ENST00000341926.3	37	c.492		5	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	13.20|13.20|13.20	2.167557|2.167557|2.167557	0.38315|0.38315|0.38315	.|.|.	.|.|.	ENSG00000153113|ENSG00000153113|ENSG00000153113	ENST00000338252;ENST00000508830;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000510156;ENST00000504465;ENST00000509903;ENST00000511782;ENST00000508579;ENST00000515663|ENST00000437034|ENST00000510500	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.|.	0.15834|.|.	2.39;2.39;2.39;2.39;2.39;2.39;2.39;2.39;2.39;2.39;2.39;2.39;2.39;2.39;2.39;2.39;2.39|.|.	5.35|5.35|5.35	5.35|5.35|5.35	0.76521|0.76521|0.76521	.|.|.	0.334270|0.334270|.	0.35708|0.35708|.	N|N|.	0.003032|0.003032|.	T|.|T	0.57036|.|0.57036	0.2026|.|0.2026	L|L|L	0.41492|0.41492|0.41492	1.28|1.28|1.28	0.41098|0.41098|0.41098	D|D|D	0.985643|0.985643|0.985643	D;D;D;D;D;D;D;P;P;P;D;D;D;D;D;D;P|.|.	0.89917|.|.	0.965;1.0;0.967;0.987;1.0;0.967;0.989;0.937;0.923;0.956;1.0;0.984;1.0;0.971;0.96;0.999;0.923|.|.	P;D;P;D;D;P;D;D;P;P;D;P;D;P;P;D;P|.|.	0.91635|.|.	0.815;0.999;0.702;0.985;0.992;0.721;0.932;0.91;0.718;0.718;0.999;0.817;0.998;0.817;0.577;0.999;0.648|.|.	T|.|T	0.55398|.|0.55398	-0.8147|.|-0.8147	10|.|5	0.07644|.|.	T|.|.	0.81|.|.	-7.0315|-7.0315|-7.0315	12.0218|12.0218|12.0218	0.53348|0.53348|0.53348	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	341;261;459;136;164;136;399;378;391;372;413;461;455;477;474;496;400|.|.	E9PDE4;B7Z8S8;B7Z468;E7EQA0;Q86YM9;E7EPY6;E7EVY3;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2|.|.	.;.;.;.;.;.;.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.|.|.	S|X|E	400;496;496;477;461;455;474;459;413;399;391;413;341;378;399;128;136|164|170	ENSP00000343421:C400S;ENSP00000425721:C496S;ENSP00000379158:C496S;ENSP00000352098:C477S;ENSP00000320319:C461S;ENSP00000379157:C455S;ENSP00000422176:C474S;ENSP00000422677:C459S;ENSP00000339914:C413S;ENSP00000421130:C399S;ENSP00000312523:C391S;ENSP00000422325:C413S;ENSP00000425670:C341S;ENSP00000426946:C378S;ENSP00000423638:C399S;ENSP00000425787:C128S;ENSP00000422929:C136S|.|.	ENSP00000312523:C391S|.|.	C|C|V	+|+|+	1|3|2	0|2|0	CAST|CAST|CAST	96112104|96112104|96112104	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.994000|0.994000|0.994000	0.49952|0.49952|0.49952	0.046000|0.046000|0.046000	0.14306|0.14306|0.14306	3.822000|3.822000|3.822000	0.55708|0.55708|0.55708	2.143000|2.143000|2.143000	0.66587|0.66587|0.66587	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	TGT|TGT|GTG	CAST	-	pfam_Prot_inh_calpain	ENSG00000153113		0.512	CAST-004	KNOWN	basic	protein_coding	CAST	HGNC	protein_coding	OTTHUMT00000250199.2	191	0.00	0	T	NM_173062		96086348	96086348	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000437034	ensembl	human	novel	69_37n	nonsense	104	37.35	62	SNP	1.000	A
CC2D1B	200014	genome.wustl.edu	37	1	52820569	52820569	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr1:52820569C>T	ENST00000371586.2	-	22	2438	c.2300G>A	c.(2299-2301)cGg>cAg	p.R767Q	RP11-155O18.6_ENST00000606527.1_RNA|CC2D1B_ENST00000438831.1_Missense_Mutation_p.R142Q|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.R761Q	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	767	C2.					nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTTGAAGCCCCGGTGGTTTCG	0.532																																						dbGAP											0													135.0	130.0	131.0					1																	52820569		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.2300G>A	1.37:g.52820569C>T	ENSP00000360642:p.Arg767Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep	p.R767Q	ENST00000371586.2	37	c.2300	CCDS30714.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.089788|6.089788	0.97271|0.97271	.|.	.|.	ENSG00000154222|ENSG00000154222	ENST00000438021;ENST00000450942|ENST00000371586;ENST00000284376;ENST00000371573;ENST00000438831	.|T;T;T	.|0.26810	.|1.71;1.71;1.71	5.65|5.65	5.65|5.65	0.86999|0.86999	.|C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58836|0.58836	0.2150|0.2150	M|M	0.84846|0.84846	2.72|2.72	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.997;0.998	T|T	0.61973|0.61973	-0.6952|-0.6952	5|10	.|0.72032	.|D	.|0.01	-19.4104|-19.4104	19.9142|19.9142	0.97043|0.97043	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|547;761;767	.|Q5T0G1;Q5T0F9-2;Q5T0F9	.|.;.;C2D1B_HUMAN	R|Q	548;681|767;761;675;142	.|ENSP00000360642:R767Q;ENSP00000284376:R761Q;ENSP00000406300:R142Q	.|ENSP00000284376:R761Q	G|R	-|-	1|2	0|0	CC2D1B|CC2D1B	52593157|52593157	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.249000|7.249000	0.78278|0.78278	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGG|CGG	CC2D1B	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000154222		0.532	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CC2D1B	HGNC	protein_coding	OTTHUMT00000022189.1	463	0.00	0	C	NM_032449		52820569	52820569	-1	no_errors	ENST00000371586	ensembl	human	known	69_37n	missense	316	33.47	159	SNP	1.000	T
DSC3	1825	genome.wustl.edu	37	18	28574329	28574329	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr18:28574329G>A	ENST00000360428.4	-	16	2583	c.2503C>T	c.(2503-2505)Cga>Tga	p.R835*	DSC3_ENST00000434452.1_3'UTR	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	835					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGATTACATCGATGCAATTTC	0.318																																						dbGAP											0													41.0	43.0	43.0					18																	28574329		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.2503C>T	18.37:g.28574329G>A	ENSP00000353608:p.Arg835*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN35|Q14200|Q9HAZ9	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,prints_Desmocollin,prints_Desmo_cadherin,pfscan_Cadherin	p.R835*	ENST00000360428.4	37	c.2503	CCDS32810.1	18	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731410	0.69189	.	.	ENSG00000134762	ENST00000360428	.	.	.	4.91	-0.469	0.12142	.	1.857230	0.03944	N	0.287320	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	4.4722	0.11717	0.0727:0.4081:0.222:0.2971	.	.	.	.	X	835	.	ENSP00000353608:R835X	R	-	1	2	DSC3	26828327	0.002000	0.14202	0.001000	0.08648	0.022000	0.10575	0.420000	0.21263	-0.199000	0.10317	0.557000	0.71058	CGA	DSC3	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000134762		0.318	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	DSC3	HGNC	protein_coding	OTTHUMT00000447384.1	88	0.00	0	G	NM_001941, NM_024423		28574329	28574329	-1	no_errors	ENST00000360428	ensembl	human	known	69_37n	nonsense	111	27.45	42	SNP	0.000	A
EDN1	1906	genome.wustl.edu	37	6	12294560	12294560	+	Silent	SNP	G	G	T			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr6:12294560G>T	ENST00000379375.5	+	4	723	c.456G>T	c.(454-456)ggG>ggT	p.G152G		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	152					artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				CCAAGCTTGGGAAAAAGTGTA	0.363																																						dbGAP											0													94.0	95.0	94.0					6																	12294560		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S56805	CCDS4522.1	6p24.1	2014-03-19			ENSG00000078401	ENSG00000078401		"""Endogenous ligands"""	3176	protein-coding gene	gene with protein product		131240					Standard	NM_001168319		Approved	ET1	uc003nae.4	P05305	OTTHUMG00000014266	ENST00000379375.5:c.456G>T	6.37:g.12294560G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96DA1	Silent	SNP	pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D	p.G152	ENST00000379375.5	37	c.456	CCDS4522.1	6																																																																																			EDN1	-	NULL	ENSG00000078401		0.363	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDN1	HGNC	protein_coding	OTTHUMT00000039872.1	467	0.00	0	G	NM_001955		12294560	12294560	+1	no_errors	ENST00000379375	ensembl	human	known	69_37n	silent	305	31.61	141	SNP	0.008	T
EPDR1	54749	genome.wustl.edu	37	7	37960286	37960286	+	5'UTR	DEL	A	A	-			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr7:37960286delA	ENST00000199448.4	+	0	124				EPDR1_ENST00000423717.1_5'UTR|EPDR1_ENST00000559325.1_Frame_Shift_Del_p.A36fs|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000425345.1_5'Flank	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGGCAGTGGCAGCAGGCAGTG	0.637																																						dbGAP											0													19.0	24.0	22.0					7																	37960286		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.-256A>-	7.37:g.37960286delA		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4C0|C9JYS3|Q06BL0|Q99M77	Frame_Shift_Del	DEL	pfam_Ependymin,smart_Ependymin,prints_Ependymin	p.A36fs	ENST00000199448.4	37	c.105	CCDS5454.2	7																																																																																			EPDR1	-	NULL	ENSG00000086289		0.637	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	EPDR1	HGNC	protein_coding	OTTHUMT00000220037.3	37	0.00	0	A	NM_017549		37960286	37960286	+1	no_errors	ENST00000559325	ensembl	human	known	69_37n	frame_shift_del	38	11.11	5	DEL	0.042	-
FLT1	2321	genome.wustl.edu	37	13	29005430	29005430	+	Silent	SNP	G	G	A	rs201258699		TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr13:29005430G>A	ENST00000282397.4	-	7	1082	c.831C>T	c.(829-831)tcC>tcT	p.S277S	FLT1_ENST00000539099.1_Silent_p.S277S|FLT1_ENST00000541932.1_Silent_p.S277S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	277	Ig-like C2-type 3.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCGCCTTACGGAAGCTCTCT	0.328																																						dbGAP											0													108.0	100.0	102.0					13																	29005430		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.831C>T	13.37:g.29005430G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.S277	ENST00000282397.4	37	c.831	CCDS9330.1	13																																																																																			FLT1	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N	ENSG00000102755		0.328	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	328	0.00	0	G			29005430	29005430	-1	no_errors	ENST00000282397	ensembl	human	known	69_37n	silent	105	54.94	128	SNP	0.000	A
FRMPD2	143162	genome.wustl.edu	37	10	49431219	49431219	+	Silent	SNP	G	G	T			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr10:49431219G>T	ENST00000374201.3	-	11	1565	c.1263C>A	c.(1261-1263)acC>acA	p.T421T	FRMPD2_ENST00000407470.4_Silent_p.T390T|FRMPD2_ENST00000305531.3_Silent_p.T397T	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	421	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGAGTGTGAAGGTATTCATGG	0.448																																						dbGAP											0													106.0	99.0	101.0					10																	49431219		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1263C>A	10.37:g.49431219G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.T421	ENST00000374201.3	37	c.1263	CCDS31195.1	10																																																																																			FRMPD2	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000170324		0.448	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	163	0.00	0	G	NM_152428		49431219	49431219	-1	no_errors	ENST00000374201	ensembl	human	known	69_37n	silent	143	16.86	29	SNP	0.994	T
SPIDR	23514	genome.wustl.edu	37	8	48508402	48508402	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr8:48508402G>A	ENST00000297423.4	+	9	1511	c.1127G>A	c.(1126-1128)tGc>tAc	p.C376Y	SPIDR_ENST00000541342.1_Missense_Mutation_p.C306Y|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Missense_Mutation_p.C316Y	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	376	Necessary for interaction with RAD51.				cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											AGTGGAAGTTGCCCTGTTATT	0.393																																						dbGAP											0													105.0	98.0	100.0					8																	48508402		1838	4097	5935	-	-	-	SO:0001583	missense	0			AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1127G>A	8.37:g.48508402G>A	ENSP00000297423:p.Cys376Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	NULL	p.C376Y	ENST00000297423.4	37	c.1127	CCDS43737.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.521|3.521	-0.097748|-0.097748	0.07010|0.07010	.|.	.|.	ENSG00000164808|ENSG00000164808	ENST00000519401|ENST00000297423;ENST00000518074;ENST00000541342;ENST00000524006	.|.	.|.	.|.	5.45|5.45	-0.587|-0.587	0.11690|0.11690	.|.	.|0.408330	.|0.26955	.|N	.|0.021655	T|T	0.19208|0.19208	0.0461|0.0461	L|L	0.27053|0.27053	0.805|0.805	0.29489|0.29489	N|N	0.855805|0.855805	.|B;B;B;B	.|0.11235	.|0.004;0.004;0.004;0.004	.|B;B;B;B	.|0.09377	.|0.004;0.004;0.004;0.004	T|T	0.31392|0.31392	-0.9945|-0.9945	5|9	.|0.02654	.|T	.|1	.|.	5.3267|5.3267	0.15910|0.15910	0.1698:0.0:0.2887:0.5415|0.1698:0.0:0.2887:0.5415	.|.	.|316;306;376;376	.|B4E0Y6;B4DFV2;B4DEV5;Q14159	.|.;.;.;K0146_HUMAN	T|Y	58|376;316;306;65	.|.	.|ENSP00000297423:C376Y	A|C	+|+	1|2	0|0	KIAA0146|KIAA0146	48670955|48670955	0.930000|0.930000	0.31532|0.31532	0.997000|0.997000	0.53966|0.53966	0.715000|0.715000	0.41141|0.41141	0.408000|0.408000	0.21065|0.21065	0.070000|0.070000	0.16634|0.16634	-0.136000|-0.136000	0.14681|0.14681	GCC|TGC	KIAA0146	-	NULL	ENSG00000164808		0.393	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0146	HGNC	protein_coding	OTTHUMT00000377611.1	446	0.22	1	G	NM_001080394		48508402	48508402	+1	no_errors	ENST00000297423	ensembl	human	known	69_37n	missense	284	30.90	127	SNP	0.964	A
MOCOS	55034	genome.wustl.edu	37	18	33785222	33785222	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr18:33785222A>G	ENST00000261326.5	+	6	1222	c.1201A>G	c.(1201-1203)Atc>Gtc	p.I401V		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAAAGGGAACATCATTGGTTA	0.473																																						dbGAP											0													127.0	126.0	126.0					18																	33785222		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1201A>G	18.37:g.33785222A>G	ENSP00000261326:p.Ile401Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,superfamily_Pyrv_Knase-like_insert_dom	p.I401V	ENST00000261326.5	37	c.1201	CCDS11919.1	18	.	.	.	.	.	.	.	.	.	.	A	4.002	-0.002281	0.07819	.	.	ENSG00000075643	ENST00000261326	T	0.13901	2.55	5.89	-11.2	0.00127	Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.517604	0.22170	N	0.063654	T	0.03871	0.0109	N	0.03224	-0.385	0.09310	N	0.999999	B	0.02656	0.0	B	0.10450	0.005	T	0.28870	-1.0030	10	0.15066	T	0.55	-7.145	14.6227	0.68597	0.2417:0.0921:0.6662:0.0	.	401	Q96EN8	MOCOS_HUMAN	V	401	ENSP00000261326:I401V	ENSP00000261326:I401V	I	+	1	0	MOCOS	32039220	0.010000	0.17322	0.000000	0.03702	0.624000	0.37722	0.297000	0.19101	-2.369000	0.00603	-0.255000	0.11280	ATC	MOCOS	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000075643		0.473	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOCOS	HGNC	protein_coding	OTTHUMT00000255801.1	299	0.00	0	A			33785222	33785222	+1	no_errors	ENST00000261326	ensembl	human	known	69_37n	missense	260	24.78	86	SNP	0.001	G
MSL2	55167	genome.wustl.edu	37	3	135870774	135870774	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr3:135870774T>C	ENST00000309993.2	-	2	1681	c.949A>G	c.(949-951)Atg>Gtg	p.M317V	MSL2_ENST00000434835.2_Missense_Mutation_p.M243V	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	317					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						CTGGTGGACATAAAAACATTA	0.443																																						dbGAP											0													103.0	104.0	103.0					3																	135870774		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.949A>G	3.37:g.135870774T>C	ENSP00000311827:p.Met317Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	pfscan_Znf_RING	p.M317V	ENST00000309993.2	37	c.949	CCDS33861.1	3	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.935739	0.00484	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	6.03	4.88	0.63580	.	0.254703	0.42294	D	0.000731	T	0.08403	0.0209	N	0.01576	-0.805	0.25664	N	0.985966	B	0.02656	0.0	B	0.01281	0.0	T	0.37911	-0.9685	9	0.02654	T	1	-5.1879	5.7939	0.18375	0.0:0.1327:0.1503:0.717	.	317	Q9HCI7	MSL2_HUMAN	V	317;243	.	ENSP00000311827:M317V	M	-	1	0	MSL2	137353464	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.451000	0.44952	2.310000	0.77875	0.450000	0.29827	ATG	MSL2	-	NULL	ENSG00000174579		0.443	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSL2	HGNC	protein_coding	OTTHUMT00000357347.1	255	0.00	0	T	NM_018133		135870774	135870774	-1	no_errors	ENST00000309993	ensembl	human	known	69_37n	missense	300	23.86	94	SNP	0.997	C
NDUFS3	4722	genome.wustl.edu	37	11	47605938	47605938	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr11:47605938G>T	ENST00000263774.4	+	7	782	c.700G>T	c.(700-702)Gac>Tac	p.D234Y	FAM180B_ENST00000356737.2_5'Flank|NDUFS3_ENST00000533507.1_3'UTR|FAM180B_ENST00000538490.1_5'Flank	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	234					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					Doxorubicin(DB00997)	CCGCAAATTTGACCTGAACAG	0.557																																					Pancreas(15;551 601 22438 23457 52512)	dbGAP											0													140.0	143.0	142.0					11																	47605938		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF067139	CCDS7941.1	11p11.11	2011-08-03	2002-08-29		ENSG00000213619	ENSG00000213619	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7710	protein-coding gene	gene with protein product	"""complex I 30kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial"""	603846	"""NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)"""			9763677	Standard	NM_004551		Approved	CI-30	uc001nga.2	O75489	OTTHUMG00000166893	ENST00000263774.4:c.700G>T	11.37:g.47605938G>T	ENSP00000263774:p.Asp234Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9J1|B4DFM8|Q9UNQ8	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_30kDa_su,tigrfam_NADH_DH_suC	p.D234Y	ENST00000263774.4	37	c.700	CCDS7941.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.096777	0.94197	.	.	ENSG00000213619	ENST00000263774	T	0.79845	-1.31	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.92848	0.7725	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.977	D	0.93856	0.7149	10	0.87932	D	0	4.0424	20.1775	0.98187	0.0:0.0:1.0:0.0	.	234;160	O75489;Q9UF24	NDUS3_HUMAN;.	Y	234	ENSP00000263774:D234Y	ENSP00000263774:D234Y	D	+	1	0	NDUFS3	47562514	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.192000	0.94947	2.771000	0.95319	0.561000	0.74099	GAC	NDUFS3	-	NULL	ENSG00000213619		0.557	NDUFS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFS3	HGNC	protein_coding	OTTHUMT00000391749.1	193	0.00	0	G	NM_004551		47605938	47605938	+1	no_errors	ENST00000263774	ensembl	human	known	69_37n	missense	138	25.41	47	SNP	1.000	T
NOTCH3	4854	genome.wustl.edu	37	19	15281153	15281153	+	Silent	SNP	C	C	T			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr19:15281153C>T	ENST00000263388.2	-	27	5178	c.5103G>A	c.(5101-5103)gcG>gcA	p.A1701A		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1701					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCATGCCCAGCGCGTCCTGGC	0.652																																						dbGAP											0													36.0	38.0	38.0					19																	15281153		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5103G>A	19.37:g.15281153C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.A1701	ENST00000263388.2	37	c.5103	CCDS12326.1	19																																																																																			NOTCH3	-	pirsf_Notch	ENSG00000074181		0.652	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	32	0.00	0	C	NM_000435		15281153	15281153	-1	no_errors	ENST00000263388	ensembl	human	known	69_37n	silent	18	33.33	9	SNP	0.323	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	235	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	163	71.50	409	SNP	1.000	G
PLEKHA5	54477	genome.wustl.edu	37	12	19459905	19459905	+	Intron	SNP	C	C	A			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr12:19459905C>A	ENST00000299275.6	+	13	1851				PLEKHA5_ENST00000424268.1_Intron|PLEKHA5_ENST00000355397.3_Intron|PLEKHA5_ENST00000429027.2_Intron|PLEKHA5_ENST00000539256.1_Intron|PLEKHA5_ENST00000538714.1_Intron|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000543806.1_Intron|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000317589.4_Intron	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5						reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AACCCACTTACTCAGACTGGC	0.537																																					Pancreas(196;329 2193 11246 14234 19524)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1846-13591C>A	12.37:g.19459905C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	RNA	SNP	-	NULL	ENST00000299275.6	37	NULL	CCDS8682.1	12																																																																																			PLEKHA5	-	-	ENSG00000052126		0.537	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	240	0.00	0	C	NM_019012		19459905	19459905	+1	no_errors	ENST00000510738	ensembl	human	known	69_37n	rna	246	20.13	62	SNP	0.803	A
RAB3GAP1	22930	genome.wustl.edu	37	2	135848702	135848702	+	Splice_Site	SNP	T	T	C			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr2:135848702T>C	ENST00000264158.8	+	4	326		c.e4+2		RAB3GAP1_ENST00000539493.1_Splice_Site|RAB3GAP1_ENST00000442034.1_Splice_Site|RAB3GAP1_ENST00000487003.1_Splice_Site	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)						brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TATTAGAGGGTAAGTTATTTC	0.323																																						dbGAP											0													56.0	60.0	59.0					2																	135848702		2202	4298	6500	-	-	-	SO:0001630	splice_region_variant	0			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.283+2T>C	2.37:g.135848702T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8Z3|C9J837|Q659F5|Q8TBB4	Splice_Site	SNP	-	e4+2	ENST00000264158.8	37	c.283+2	CCDS33294.1	2	.	.	.	.	.	.	.	.	.	.	T	18.67	3.674845	0.67928	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9309	0.70914	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAB3GAP1	135565172	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	4.667000	0.61561	2.062000	0.61559	0.477000	0.44152	.	RAB3GAP1	-	-	ENSG00000115839		0.323	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP1	HGNC	protein_coding	OTTHUMT00000337514.2	181	0.00	0	T	NM_012233	Intron	135848702	135848702	+1	no_errors	ENST00000264158	ensembl	human	known	69_37n	splice_site	101	45.41	84	SNP	1.000	C
RYR3	6263	genome.wustl.edu	37	15	33873763	33873763	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr15:33873763G>A	ENST00000389232.4	+	14	1562	c.1492G>A	c.(1492-1494)Gta>Ata	p.V498I	RYR3_ENST00000415757.3_Missense_Mutation_p.V498I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	498					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTACAATAGCGTAGCACACTT	0.433																																						dbGAP											0													140.0	140.0	140.0					15																	33873763		1914	4146	6060	-	-	-	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1492G>A	15.37:g.33873763G>A	ENSP00000373884:p.Val498Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.V498I	ENST00000389232.4	37	c.1492	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720794	0.48728	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.88818	-2.43;-2.43	5.41	4.5	0.54988	Intracellular calcium-release channel (1);	0.072787	0.56097	D	0.000040	T	0.76828	0.4042	N	0.14661	0.345	0.25425	N	0.988234	P;B	0.35433	0.501;0.216	B;B	0.27380	0.079;0.04	T	0.68876	-0.5293	10	0.42905	T	0.14	.	10.8219	0.46610	0.2004:0.0:0.7996:0.0	.	498;498	Q15413-2;Q15413	.;RYR3_HUMAN	I	498	ENSP00000373884:V498I;ENSP00000399610:V498I	ENSP00000354735:V498I	V	+	1	0	RYR3	31661055	1.000000	0.71417	0.109000	0.21407	0.991000	0.79684	4.095000	0.57728	1.284000	0.44531	0.563000	0.77884	GTA	RYR3	-	pfam_Ca-rel_channel	ENSG00000198838		0.433	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	223	0.00	0	G			33873763	33873763	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	missense	187	13.02	28	SNP	0.902	A
SH3KBP1	30011	genome.wustl.edu	37	X	19568118	19568118	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chrX:19568118G>A	ENST00000397821.3	-	14	1758	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	SH3KBP1_ENST00000379716.1_Missense_Mutation_p.R252W|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.R453W|SH3KBP1_ENST00000541422.1_Missense_Mutation_p.R229W	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	490					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GACGGAGGCCGCCTCCCTGTA	0.458																																						dbGAP											0													192.0	166.0	175.0					X																	19568118		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1468C>T	X.37:g.19568118G>A	ENSP00000380921:p.Arg490Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.R490W	ENST00000397821.3	37	c.1468	CCDS14193.1	X	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597680	0.46318	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379716;ENST00000379698;ENST00000541422;ENST00000379726	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34	5.26	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.36386	0.0965	M	0.62723	1.935	0.58432	D	0.999999	B;B;B	0.13594	0.001;0.002;0.008	B;B;B	0.01281	0.0;0.0;0.0	T	0.33523	-0.9865	10	0.87932	D	0	-8.3004	12.8385	0.57788	0.0:0.0:0.589:0.411	.	252;490;453	Q5JPT4;Q96B97;Q5JPT5	.;SH3K1_HUMAN;.	W	475;490;252;453;229;470	ENSP00000380921:R490W;ENSP00000369039:R252W;ENSP00000369020:R453W;ENSP00000442499:R229W;ENSP00000369049:R470W	ENSP00000369020:R453W	R	-	1	2	SH3KBP1	19478039	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.518000	0.45537	0.998000	0.38996	0.600000	0.82982	CGG	SH3KBP1	-	NULL	ENSG00000147010		0.458	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1	345	0.29	1	G	NM_031892		19568118	19568118	-1	no_errors	ENST00000397821	ensembl	human	known	69_37n	missense	222	31.72	105	SNP	1.000	A
SLC30A10	55532	genome.wustl.edu	37	1	220089061	220089061	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr1:220089061T>A	ENST00000366926.3	-	4	1349	c.1188A>T	c.(1186-1188)ttA>ttT	p.L396F	SLC30A10_ENST00000536446.1_Missense_Mutation_p.L151F|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	396	Poly-Leu.				zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		AGAGCAACAGTAAGTCCTTCT	0.532																																					Colon(76;360 1614 43677 51136)	dbGAP											0													103.0	99.0	101.0					1																	220089061		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.1188A>T	1.37:g.220089061T>A	ENSP00000355893:p.Leu396Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AL9|Q9NPW0	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.L396F	ENST00000366926.3	37	c.1188	CCDS31026.1	1	.	.	.	.	.	.	.	.	.	.	T	9.593	1.126768	0.20959	.	.	ENSG00000196660	ENST00000366926;ENST00000536446	T;T	0.65178	-0.14;0.46	5.91	-1.04	0.10068	.	1.318910	0.04726	N	0.420207	T	0.43831	0.1265	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17018	-1.0383	9	.	.	.	-3.5518	6.6199	0.22798	0.0:0.3082:0.3107:0.3811	.	396	Q6XR72	ZNT10_HUMAN	F	396;151	ENSP00000355893:L396F;ENSP00000439489:L151F	.	L	-	3	2	SLC30A10	218155684	0.000000	0.05858	0.001000	0.08648	0.879000	0.50718	-0.865000	0.04250	-0.207000	0.10187	0.528000	0.53228	TTA	SLC30A10	-	NULL	ENSG00000196660		0.532	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A10	HGNC	protein_coding	OTTHUMT00000357709.1	132	0.00	0	T	NM_018713		220089061	220089061	-1	no_errors	ENST00000366926	ensembl	human	known	69_37n	missense	158	40.38	107	SNP	0.000	A
SUPT5H	6829	genome.wustl.edu	37	19	39949691	39949691	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr19:39949691G>A	ENST00000599117.1	+	8	803	c.436G>A	c.(436-438)Gcc>Acc	p.A146T	SUPT5H_ENST00000432763.2_Missense_Mutation_p.A146T|SUPT5H_ENST00000402194.2_Missense_Mutation_p.A142T|SUPT5H_ENST00000598725.1_Missense_Mutation_p.A146T|SUPT5H_ENST00000359191.6_Missense_Mutation_p.A142T			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	146					7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAAGAAATACGCCAAGTCATC	0.582																																						dbGAP											0													102.0	92.0	96.0					19																	39949691		2203	4300	6503	-	-	-	SO:0001583	missense	0			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.436G>A	19.37:g.39949691G>A	ENSP00000470252:p.Ala146Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O43279|Q59G52|Q99639	Missense_Mutation	SNP	pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5	p.A146T	ENST00000599117.1	37	c.436	CCDS12536.1	19	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670867	0.88348	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.23	5.23	0.72850	Spt5 transcription elongation factor, N-terminal (1);	0.116515	0.56097	N	0.000021	T	0.60366	0.2263	L	0.55990	1.75	0.80722	D	1	B;B	0.30281	0.233;0.275	B;B	0.32762	0.094;0.152	T	0.56992	-0.7887	8	.	.	.	-15.2956	17.9559	0.89069	0.0:0.0:1.0:0.0	.	142;146	O00267-2;O00267	.;SPT5H_HUMAN	T	146;142;124;146	.	.	A	+	1	0	SUPT5H	44641531	1.000000	0.71417	0.977000	0.42913	0.965000	0.64279	9.530000	0.98051	2.625000	0.88918	0.650000	0.86243	GCC	SUPT5H	-	pfam_Spt5_N,pirsf_TF_Spt5	ENSG00000196235		0.582	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	HGNC	protein_coding	OTTHUMT00000464918.1	137	0.00	0	G	NM_003169		39949691	39949691	+1	no_errors	ENST00000359191	ensembl	human	known	69_37n	missense	105	13.22	16	SNP	1.000	A
TEX15	56154	genome.wustl.edu	37	8	30705650	30705650	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr8:30705650C>T	ENST00000256246.2	-	1	958	c.884G>A	c.(883-885)aGc>aAc	p.S295N	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	295					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTATCACAGCTTTTCCCAAA	0.299																																						dbGAP											0													49.0	53.0	52.0					8																	30705650		2202	4297	6499	-	-	-	SO:0001583	missense	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.884G>A	8.37:g.30705650C>T	ENSP00000256246:p.Ser295Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S295N	ENST00000256246.2	37	c.884	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.390789	0.00200	.	.	ENSG00000133863	ENST00000256246	T	0.08458	3.09	5.61	0.45	0.16624	.	0.448035	0.20397	N	0.093123	T	0.02230	0.0069	N	0.01048	-1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40590	-0.9555	10	0.87932	D	0	.	3.3004	0.06980	0.2757:0.2506:0.0:0.4737	.	295	Q9BXT5	TEX15_HUMAN	N	295	ENSP00000256246:S295N	ENSP00000256246:S295N	S	-	2	0	TEX15	30825192	0.009000	0.17119	0.001000	0.08648	0.018000	0.09664	0.361000	0.20267	0.126000	0.18424	-0.312000	0.09012	AGC	TEX15	-	NULL	ENSG00000133863		0.299	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	127	0.00	0	C			30705650	30705650	-1	no_errors	ENST00000256246	ensembl	human	known	69_37n	missense	85	29.17	35	SNP	0.000	T
TFAP2B	7021	genome.wustl.edu	37	6	50811097	50811097	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr6:50811097A>G	ENST00000393655.3	+	7	1544	c.1375A>G	c.(1375-1377)Agg>Ggg	p.R459G	TFAP2B_ENST00000263046.4_Missense_Mutation_p.R468G	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	459				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GGAGAAACACAGGAAATGAAA	0.353																																					Pancreas(116;1373 2332 5475 10752)	dbGAP											0													29.0	30.0	30.0					6																	50811097		2195	4279	6474	-	-	-	SO:0001583	missense	0			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1375A>G	6.37:g.50811097A>G	ENSP00000377265:p.Arg459Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C	p.R468G	ENST00000393655.3	37	c.1402	CCDS4934.2	6	.	.	.	.	.	.	.	.	.	.	A	15.91	2.972132	0.53614	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.98329	-4.85;-4.87	4.79	4.79	0.61399	.	0.054502	0.64402	D	0.000001	D	0.98169	0.9395	M	0.78801	2.425	0.54753	D	0.999983	D	0.54601	0.967	P	0.60789	0.879	D	0.99032	1.0821	10	0.87932	D	0	-9.9386	10.5024	0.44813	0.8374:0.1626:0.0:0.0	.	459	Q92481	AP2B_HUMAN	G	459;468	ENSP00000377265:R459G;ENSP00000263046:R468G	ENSP00000263046:R468G	R	+	1	2	TFAP2B	50919056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.899000	0.56288	1.797000	0.52628	0.533000	0.62120	AGG	TFAP2B	-	NULL	ENSG00000008196		0.353	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2B	HGNC	protein_coding	OTTHUMT00000040886.3	45	0.00	0	A	NM_003221		50811097	50811097	+1	no_errors	ENST00000263046	ensembl	human	known	69_37n	missense	35	33.96	18	SNP	1.000	G
USP14	9097	genome.wustl.edu	37	18	210024	210024	+	Silent	SNP	T	T	C			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr18:210024T>C	ENST00000261601.7	+	14	1309	c.1218T>C	c.(1216-1218)ttT>ttC	p.F406F	USP14_ENST00000582707.1_Silent_p.F371F|USP14_ENST00000383589.2_Silent_p.F360F|USP14_ENST00000400266.3_Silent_p.F395F	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	406	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CCTTTTCTTTTGCTGATGGTA	0.294																																						dbGAP											0													115.0	114.0	115.0					18																	210024		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.1218T>C	18.37:g.210024T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	J3QRZ5|Q53XY5	Silent	SNP	pfam_Peptidase_C19,smart_Ubiquitin,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.F406	ENST00000261601.7	37	c.1218	CCDS32780.1	18																																																																																			USP14	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000101557		0.294	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP14	HGNC	protein_coding	OTTHUMT00000440305.3	545	0.00	0	T	NM_005151		210024	210024	+1	no_errors	ENST00000261601	ensembl	human	known	69_37n	silent	343	33.14	170	SNP	1.000	C
VLDLR	7436	genome.wustl.edu	37	9	2643403	2643403	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr9:2643403G>A	ENST00000382100.3	+	5	1048	c.692G>A	c.(691-693)cGt>cAt	p.R231H	VLDLR_ENST00000382099.2_Missense_Mutation_p.R231H|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	231	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CAGTGTGGCCGTCAGCCAGTC	0.582																																						dbGAP											0													47.0	41.0	43.0					9																	2643403		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.692G>A	9.37:g.2643403G>A	ENSP00000371532:p.Arg231His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R231H	ENST00000382100.3	37	c.692	CCDS6446.1	9	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349753	0.61183	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.90844	-2.74;-2.74	5.5	4.6	0.57074	.	0.117180	0.39274	N	0.001411	D	0.85305	0.5666	L	0.35542	1.07	0.58432	D	0.999999	B;B;B	0.13594	0.008;0.005;0.003	B;B;B	0.08055	0.003;0.002;0.002	T	0.80968	-0.1145	10	0.36615	T	0.2	.	14.3127	0.66426	0.0707:0.0:0.9292:0.0	.	231;231;231	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	H	231;231;110	ENSP00000371532:R231H;ENSP00000371531:R231H	ENSP00000371524:R110H	R	+	2	0	VLDLR	2633403	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.265000	0.65519	1.547000	0.49401	0.655000	0.94253	CGT	VLDLR	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt	ENSG00000147852		0.582	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VLDLR	HGNC	protein_coding	OTTHUMT00000051519.2	33	0.00	0	G	NM_003383		2643403	2643403	+1	no_errors	ENST00000382100	ensembl	human	known	69_37n	missense	25	28.57	10	SNP	1.000	A
YTHDF1	54915	genome.wustl.edu	37	20	61835025	61835025	+	Silent	SNP	G	G	A			TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr20:61835025G>A	ENST00000370339.3	-	4	608	c.267C>T	c.(265-267)taC>taT	p.Y89Y	YTHDF1_ENST00000370333.4_Silent_p.Y39Y|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	89							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TGAGCTGTCCGTAGGTGGTGA	0.522																																						dbGAP											0													109.0	112.0	111.0					20																	61835025		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.267C>T	20.37:g.61835025G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Silent	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.Y89	ENST00000370339.3	37	c.267	CCDS13511.1	20																																																																																			YTHDF1	-	NULL	ENSG00000149658		0.522	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDF1	HGNC	protein_coding	OTTHUMT00000080110.2	260	0.00	0	G	NM_017798		61835025	61835025	-1	no_errors	ENST00000370339	ensembl	human	known	69_37n	silent	171	48.65	162	SNP	0.258	A
ZFP28	140612	genome.wustl.edu	37	19	57061548	57061548	+	Missense_Mutation	SNP	C	C	T	rs142005555		TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr19:57061548C>T	ENST00000301318.3	+	6	871	c.800C>T	c.(799-801)gCa>gTa	p.A267V	AC007228.11_ENST00000596587.1_RNA|ZFP28_ENST00000591844.1_Missense_Mutation_p.A267V	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	267	KRAB 2. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CTGGGATCAGCAGGTAAGGAT	0.473																																					Ovarian(124;554 1662 19430 21141 52494)	dbGAP											0													51.0	46.0	47.0					19																	57061548		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.800C>T	19.37:g.57061548C>T	ENSP00000301318:p.Ala267Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	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.A267V	ENST00000301318.3	37	c.800	CCDS12946.1	19	.	.	.	.	.	.	.	.	.	.	C	3.895	-0.023160	0.07634	.	.	ENSG00000196867	ENST00000301318	T	0.01438	4.89	4.37	-4.75	0.03239	Krueppel-associated box (4);	2.753350	0.01664	N	0.025240	T	0.00468	0.0015	N	0.00128	-2.045	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.51116	-0.8746	10	0.21540	T	0.41	.	7.3069	0.26453	0.0:0.4589:0.2923:0.2489	.	267;267	Q8NHY6;A8K0L8	ZFP28_HUMAN;.	V	267	ENSP00000301318:A267V	ENSP00000301318:A267V	A	+	2	0	ZFP28	61753360	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.626000	0.05527	-1.151000	0.02836	-0.469000	0.05056	GCA	ZFP28	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000196867		0.473	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP28	HGNC	protein_coding	OTTHUMT00000458409.1	156	0.00	0	C	NM_020828		57061548	57061548	+1	no_errors	ENST00000301318	ensembl	human	known	69_37n	missense	236	20.27	60	SNP	0.000	T
ZSWIM5	57643	genome.wustl.edu	37	1	45501826	45501826	+	Silent	SNP	G	G	A	rs199884737		TCGA-C8-A12Y-01A-11D-A12B-09	TCGA-C8-A12Y-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d5c0a1a0-3d38-497b-9f47-107f06659cb1	9fdfe86f-477c-410d-8258-c253254ffe13	g.chr1:45501826G>A	ENST00000359600.5	-	9	2245	c.2040C>T	c.(2038-2040)taC>taT	p.Y680Y	AL359473.1_ENST00000583502.1_RNA	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	680						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGTCCTGTGCGTAGAGGCCTT	0.542																																						dbGAP											0													91.0	87.0	88.0					1																	45501826		2024	4176	6200	-	-	-	SO:0001819	synonymous_variant	0			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2040C>T	1.37:g.45501826G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SXQ9	Silent	SNP	pfscan_Znf_SWIM	p.Y680	ENST00000359600.5	37	c.2040	CCDS41319.1	1																																																																																			ZSWIM5	-	NULL	ENSG00000162415		0.542	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM5	HGNC	protein_coding	OTTHUMT00000024823.2	122	0.00	0	G	XM_046581		45501826	45501826	-1	no_errors	ENST00000359600	ensembl	human	known	69_37n	silent	95	36.84	56	SNP	0.309	A
