#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ARHGEF19	128272	broad.mit.edu	37	1	16534595	16534595	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:16534595A>G	ENST00000270747.3	-	3	674	c.538T>C	c.(538-540)Ttg>Ctg	p.L180L	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	180					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCAGACAACTCCACCCTG	0.667																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(538-540)Ttg>Ctg		Rho guanine nucleotide exchange factor (GEF) 19							64.0	67.0	66.0					1																	16534595		2203	4300	6503	SO:0001819	synonymous_variant	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16534595A>G	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.538T>C	1.37:g.16534595A>G			Somatic					p.L180L	NM_153213.3	NP_694945.2	WXS	Illumina GAIIx	Phase_I	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	3	674	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	180					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	ENST00000270747.3	37	c.538T>C	CCDS170.1																																																																																				0.667	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		4	100	4	100	---	---	---	---
BEST4	266675	broad.mit.edu	37	1	45253307	45253307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:45253307C>T	ENST00000372207.3	-	1	70	c.71G>A	c.(70-72)tGg>tAg	p.W24*		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	24						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GCTTCCCCTCCAGCGGAGAAG	0.572																																						ENST00000372207.3																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(70-72)tGg>tAg		bestrophin 4							95.0	105.0	102.0					1																	45253307		2203	4300	6503	SO:0001587	stop_gained	266675					chloride channel complex|plasma membrane	chloride channel activity	g.chr1:45253307C>T	AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17106	protein-coding gene	gene with protein product		607336	"""vitelliform macular dystrophy 2-like 2"""	VMD2L2		12032738, 16702355	Standard	NM_153274		Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.71G>A	1.37:g.45253307C>T	ENSP00000361281:p.Trp24*		Somatic					p.W24*	NM_153274.2	NP_695006.1	WXS	Illumina GAIIx	Phase_I	Q8NFU0	BEST4_HUMAN			1	70	-	Acute lymphoblastic leukemia(166;0.155)		24					Q5JR93	Nonsense_Mutation	SNP	ENST00000372207.3	37	c.71G>A	CCDS514.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193848	0.78902	.	.	ENSG00000142959	ENST00000372207	.	.	.	4.68	4.68	0.58851	.	0.072060	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.0509	15.1429	0.72623	0.0:1.0:0.0:0.0	.	.	.	.	X	24	.	ENSP00000361281:W24X	W	-	2	0	BEST4	45025894	1.000000	0.71417	0.980000	0.43619	0.635000	0.38103	7.635000	0.83286	2.427000	0.82271	0.655000	0.94253	TGG		0.572	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023425.1	NM_153274		26	215	26	215	---	---	---	---
SPRR1A	6698	broad.mit.edu	37	1	152957847	152957847	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:152957847G>T	ENST00000368762.1	+	1	141	c.141G>T	c.(139-141)gaG>gaT	p.E47D	SPRR1A_ENST00000307122.2_Missense_Mutation_p.E47D			P35321	SPR1A_HUMAN	small proline-rich protein 1A	47	6 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTGCCTGAGCCCTGCCACC	0.642																																						ENST00000307122.2																			0				breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7						c.(139-141)gaG>gaT		small proline-rich protein 1A							120.0	120.0	120.0					1																	152957847		2203	4300	6503	SO:0001583	missense	6698				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152957847G>T	L05187	CCDS1032.1	1q21-q22	2008-02-05			ENSG00000169474	ENSG00000169474			11259	protein-coding gene	gene with protein product		182265				8325635	Standard	NM_005987		Approved		uc001faw.3	P35321	OTTHUMG00000014404	ENST00000368762.1:c.141G>T	1.37:g.152957847G>T	ENSP00000357751:p.Glu47Asp		Somatic				SPRR1A_ENST00000368762.1_Missense_Mutation_p.E47D	p.E47D	NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	WXS	Illumina GAIIx	Phase_I	P35321	SPR1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	205	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			6 X 8 AA approximate tandem repeats.		B1AN47|D3DV31|Q2M303|Q9UDG4	Missense_Mutation	SNP	ENST00000368762.1	37	c.141G>T	CCDS1032.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647613	0.67358	.	.	ENSG00000169474	ENST00000307122;ENST00000368762	T;T	0.13196	2.61;2.61	5.49	4.57	0.56435	.	0.000000	0.37136	N	0.002230	T	0.20700	0.0498	.	.	.	0.26270	N	0.978433	D	0.76494	0.999	D	0.80764	0.994	T	0.06445	-1.0826	9	0.59425	D	0.04	-12.4325	10.2524	0.43377	0.0917:0.0:0.9083:0.0	.	47	P35321	SPR1A_HUMAN	D	47	ENSP00000307340:E47D;ENSP00000357751:E47D	ENSP00000307340:E47D	E	+	3	2	SPRR1A	151224471	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.450000	0.60041	1.320000	0.45209	0.555000	0.69702	GAG		0.642	SPRR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040062.1	NM_005987		21	250	21	250	---	---	---	---
SHC1	6464	broad.mit.edu	37	1	154941890	154941890	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:154941890C>T	ENST00000368445.5	-	2	744	c.530G>A	c.(529-531)cGt>cAt	p.R177H	SHC1_ENST00000368453.4_Missense_Mutation_p.R67H|SHC1_ENST00000368450.1_Missense_Mutation_p.R67H|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000448116.2_Missense_Mutation_p.R177H|SHC1_ENST00000368449.4_Intron	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	177	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTCCAGGGCACGCATTGACTG	0.602																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(529-531)cGt>cAt		SHC (Src homology 2 domain containing) transforming protein 1							77.0	61.0	66.0					1																	154941890		2203	4300	6503	SO:0001583	missense	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154941890C>T	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.530G>A	1.37:g.154941890C>T	ENSP00000357430:p.Arg177His		Somatic				SHC1_ENST00000368453.4_Missense_Mutation_p.R67H|SHC1_ENST00000368450.1_Missense_Mutation_p.R67H|SHC1_ENST00000368445.5_Missense_Mutation_p.R177H|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368449.4_Intron	p.R177H	NM_001130040.1	NP_001123512.1	WXS	Illumina GAIIx	Phase_I	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		2	750	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		177			PID.		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.530G>A	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208166	0.95033	.	.	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000412170;ENST00000366442	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	4.92	4.92	0.64577	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.46171	0.1379	M	0.88704	2.975	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79108	0.989;0.992	T	0.55153	-0.8185	10	0.87932	D	0	.	15.6675	0.77242	0.0:1.0:0.0:0.0	.	177;177	P29353-6;P29353	.;SHC1_HUMAN	H	177;177;67;67;113;67;67	ENSP00000357430:R177H;ENSP00000401303:R177H;ENSP00000357438:R67H;ENSP00000357435:R67H;ENSP00000398441:R67H;ENSP00000396162:R67H	ENSP00000396162:R67H	R	-	2	0	SHC1	153208514	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.256000	0.78350	2.580000	0.87095	0.655000	0.94253	CGT		0.602	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		6	35	6	35	---	---	---	---
SLAMF6	114836	broad.mit.edu	37	1	160466146	160466146	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:160466146C>T	ENST00000368057.3	-	2	147	c.87G>A	c.(85-87)atG>atA	p.M29I	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368059.3_Missense_Mutation_p.M29I			Q96DU3	SLAF6_HUMAN	SLAM family member 6	29						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TCCCGTTCACCATCAATGGGG	0.458																																						ENST00000368059.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22						c.(85-87)atG>atA		SLAM family member 6							162.0	162.0	162.0					1																	160466146		2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160466146C>T	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.87G>A	1.37:g.160466146C>T	ENSP00000357036:p.Met29Ile		Somatic				SLAMF6_ENST00000368057.3_Missense_Mutation_p.M29I|SLAMF6_ENST00000368055.1_Intron	p.M29I	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	WXS	Illumina GAIIx	Phase_I	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		2	156	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		29					A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.87G>A	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	C	3.537	-0.094577	0.07053	.	.	ENSG00000162739	ENST00000368059;ENST00000368057	T;T	0.21361	2.01;2.01	4.95	-4.54	0.03452	Immunoglobulin subtype (1);Immunoglobulin V-set (1);	1.387830	0.04729	N	0.420899	T	0.02342	0.0072	L	0.28192	0.835	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.33214	-0.9877	10	0.08837	T	0.75	0.3789	0.8089	0.01089	0.2617:0.2144:0.1205:0.4034	.	29;29	Q96DU3;B2R8X8	SLAF6_HUMAN;.	I	29	ENSP00000357038:M29I;ENSP00000357036:M29I	ENSP00000357036:M29I	M	-	3	0	SLAMF6	158732770	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.717000	0.04986	-1.283000	0.02393	-0.768000	0.03414	ATG		0.458	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		8	283	8	283	---	---	---	---
OSR1	130497	broad.mit.edu	37	2	19553372	19553372	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:19553372C>T	ENST00000272223.2	-	2	539	c.195G>A	c.(193-195)ccG>ccA	p.P65P	OSR1_ENST00000536433.1_Silent_p.P65P	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	65					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AAGAAGAGCGCGGCAAGTGCA	0.612																																						ENST00000536433.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(193-195)ccG>ccA		odd-skipped related transciption factor 1							38.0	41.0	40.0					2																	19553372		2203	4300	6503	SO:0001819	synonymous_variant	130497				chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding	g.chr2:19553372C>T	BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"""Zinc fingers, C2H2-type"""	8111	protein-coding gene	gene with protein product		608891	"""odd-skipped (Drosophila) homolog"", ""odd-skipped related 1 (Drosophila)"""	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.195G>A	2.37:g.19553372C>T			Somatic				OSR1_ENST00000272223.2_Silent_p.P65P	p.P65P			WXS	Illumina GAIIx	Phase_I	Q8TAX0	OSR1_HUMAN			1	3305	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)	65					B3KV97|D6W521	Silent	SNP	ENST00000272223.2	37	c.195G>A	CCDS1694.1																																																																																				0.612	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	NM_145260		5	57	5	57	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163291905	163291905	+	Missense_Mutation	SNP	C	C	A	rs149070457		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:163291905C>A	ENST00000332142.5	-	8	1856	c.1757G>T	c.(1756-1758)gGa>gTa	p.G586V	KCNH7_ENST00000328032.4_Missense_Mutation_p.G579V	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	586					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.G586E(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ATCCAACCATCCGATTTTGTC	0.433																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			1	Substitution - Missense(1)	p.G586E(1)	skin(1)	NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1756-1758)gGa>gTa		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						191.0	171.0	178.0					2																	163291905		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163291905C>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1757G>T	2.37:g.163291905C>A	ENSP00000331727:p.Gly586Val		Somatic				KCNH7_ENST00000328032.4_Missense_Mutation_p.G579V	p.G586V	NM_033272.3	NP_150375.2	WXS	Illumina GAIIx	Phase_I	Q9NS40	KCNH7_HUMAN			8	1856	-			586					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.1757G>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794356	0.90453	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99680	-5.27;-6.38	5.9	5.9	0.94986	Ion transport (1);	0.045973	0.85682	D	0.000000	D	0.99799	0.9914	M	0.92412	3.305	0.80722	D	1	D;D	0.67145	0.996;0.992	D;D	0.74348	0.983;0.956	D	0.97507	1.0064	10	0.72032	D	0.01	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	579;586	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	V	586;579	ENSP00000331727:G586V;ENSP00000333781:G579V	ENSP00000333781:G579V	G	-	2	0	KCNH7	163000151	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	GGA		0.433	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		5	136	5	136	---	---	---	---
ZNF35	7584	broad.mit.edu	37	3	44700525	44700525	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:44700525T>C	ENST00000396056.2	+	4	905	c.670T>C	c.(670-672)Tgt>Cgt	p.C224R	ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.C64R	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	224					cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GCCTTTTACGTGTAGCGTGTG	0.428																																						ENST00000396056.2																			0				large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(670-672)Tgt>Cgt		zinc finger protein 35							76.0	75.0	75.0					3																	44700525		2203	4300	6503	SO:0001583	missense	7584				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44700525T>C	X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"""Zinc fingers, C2H2-type"""	13099	protein-coding gene	gene with protein product		194533	"""zinc finger protein 35 (clone HF.10)"""			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.670T>C	3.37:g.44700525T>C	ENSP00000379368:p.Cys224Arg		Somatic				RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.C64R|ZNF35_ENST00000296092.3_3'UTR	p.C224R	NM_003420.3	NP_003411.3	WXS	Illumina GAIIx	Phase_I	P13682	ZNF35_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	4	905	+		Ovarian(412;0.0228)	224					B2RBU6|Q53Y54|Q96D01	Missense_Mutation	SNP	ENST00000396056.2	37	c.670T>C	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	T	15.76	2.928432	0.52759	.	.	ENSG00000169981	ENST00000396056;ENST00000542250	T;T	0.60171	0.21;0.21	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000112	D	0.82926	0.5143	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88308	0.2954	10	0.87932	D	0	-12.8516	14.0409	0.64674	0.0:0.0:0.0:1.0	.	224	P13682	ZNF35_HUMAN	R	224;64	ENSP00000379368:C224R;ENSP00000443714:C64R	ENSP00000379368:C224R	C	+	1	0	ZNF35	44675529	1.000000	0.71417	0.462000	0.27118	0.439000	0.31926	7.028000	0.76470	2.145000	0.66743	0.533000	0.62120	TGT		0.428	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4	NM_003420		7	131	7	131	---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89259294	89259294	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:89259294T>G	ENST00000336596.2	+	3	663	c.438T>G	c.(436-438)atT>atG	p.I146M	EPHA3_ENST00000494014.1_Missense_Mutation_p.I146M|EPHA3_ENST00000452448.2_Missense_Mutation_p.I146M	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	146	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTGACACCATTGCAGCTGATG	0.418										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(436-438)atT>atG		EPH receptor A3							153.0	142.0	146.0					3																	89259294		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89259294T>G	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.438T>G	3.37:g.89259294T>G	ENSP00000337451:p.Ile146Met	TSP Lung(6;0.00050)	Somatic				EPHA3_ENST00000494014.1_Missense_Mutation_p.I146M|EPHA3_ENST00000452448.2_Missense_Mutation_p.I146M	p.I146M	NM_005233.5	NP_005224.2	WXS	Illumina GAIIx	Phase_I	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	3	663	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	146					Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.438T>G	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046411	0.55110	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.15256	2.44;2.44;2.44	5.57	0.361	0.16107	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	M	0.93197	3.39	0.48762	D	0.9997	D;D	0.89917	0.996;1.0	D;D	0.80764	0.991;0.994	T	0.55667	-0.8105	9	.	.	.	.	10.8025	0.46497	0.0:0.3172:0.0:0.6828	.	146;146	P29320;P29320-2	EPHA3_HUMAN;.	M	146	ENSP00000337451:I146M;ENSP00000399926:I146M;ENSP00000419190:I146M	.	I	+	3	3	EPHA3	89341984	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.434000	0.21494	0.070000	0.16634	0.455000	0.32223	ATT		0.418	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		10	207	10	207	---	---	---	---
MYLK	4638	broad.mit.edu	37	3	123456319	123456319	+	Silent	SNP	G	G	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:123456319G>T	ENST00000475616.1	-	5	659	c.660C>A	c.(658-660)atC>atA	p.I220I	MYLK_ENST00000346322.5_Silent_p.I220I|MYLK_ENST00000359169.1_Silent_p.I220I|MYLK_ENST00000360304.3_Silent_p.I220I|MYLK_ENST00000360772.3_Silent_p.I220I			Q15746	MYLK_HUMAN	myosin light chain kinase	220	Ig-like C2-type 2.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGACTCCATGGATTTCCAGAA	0.547																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(658-660)atC>atA		myosin light chain kinase							235.0	186.0	203.0					3																	123456319		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123456319G>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.660C>A	3.37:g.123456319G>T			Somatic				MYLK_ENST00000360304.3_Silent_p.I220I|MYLK_ENST00000346322.5_Silent_p.I220I|MYLK_ENST00000475616.1_Silent_p.I220I|MYLK_ENST00000359169.1_Silent_p.I220I	p.I220I			WXS	Illumina GAIIx	Phase_I	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	9	1038	-		Lung NSC(201;0.0496)	220			Ig-like C2-type 2.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.660C>A	CCDS46896.1																																																																																				0.547	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		9	218	9	218	---	---	---	---
UVSSA	57654	broad.mit.edu	37	4	1348988	1348988	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:1348988A>G	ENST00000389851.4	+	7	1578	c.1131A>G	c.(1129-1131)aaA>aaG	p.K377K	UVSSA_ENST00000511216.1_Silent_p.K377K|AC078852.1_ENST00000504748.1_RNA|UVSSA_ENST00000507531.1_Silent_p.K377K	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	377					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										TACTGAGAAAATACAAGGAGC	0.627																																						ENST00000389851.4																			0											c.(1129-1131)aaA>aaG		UV-stimulated scaffold protein A							52.0	53.0	53.0					4																	1348988		2203	4298	6501	SO:0001819	synonymous_variant	57654							g.chr4:1348988A>G	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1131A>G	4.37:g.1348988A>G			Somatic				UVSSA_ENST00000511216.1_Silent_p.K377K|UVSSA_ENST00000507531.1_Silent_p.K377K	p.K377K	NM_020894.2	NP_065945.2	WXS	Illumina GAIIx	Phase_I	Q2YD98	K1530_HUMAN			7	1578	+			377					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Silent	SNP	ENST00000389851.4	37	c.1131A>G	CCDS33938.1																																																																																				0.627	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		16	21	16	21	---	---	---	---
HNRNPD	3184	broad.mit.edu	37	4	83280638	83280638	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:83280638C>A	ENST00000313899.7	-	3	722	c.445G>T	c.(445-447)Gag>Tag	p.E149*	HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000352301.4_Nonsense_Mutation_p.E130*|HNRNPD_ENST00000353341.4_Nonsense_Mutation_p.E149*|HNRNPD_ENST00000543098.1_Nonsense_Mutation_p.E97*|HNRNPD_ENST00000541060.1_Intron	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	149	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TCTACACTCTCCGATTCTTTA	0.358																																						ENST00000313899.7																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(445-447)Gag>Tag		heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)							94.0	91.0	92.0					4																	83280638		2203	4300	6503	SO:0001587	stop_gained	3184				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding	g.chr4:83280638C>A	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.445G>T	4.37:g.83280638C>A	ENSP00000313199:p.Glu149*		Somatic				HNRNPD_ENST00000353341.4_Nonsense_Mutation_p.E149*|HNRNPD_ENST00000543098.1_Nonsense_Mutation_p.E97*|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000352301.4_Nonsense_Mutation_p.E130*	p.E149*	NM_031370.2	NP_112738.1	WXS	Illumina GAIIx	Phase_I	Q14103	HNRPD_HUMAN			3	722	-			149			RRM 1.		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Nonsense_Mutation	SNP	ENST00000313899.7	37	c.445G>T	CCDS3592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.498932|6.498932	0.97616|0.97616	.|.	.|.	ENSG00000138668|ENSG00000138668	ENST00000313899;ENST00000353341;ENST00000352301;ENST00000543098;ENST00000307213;ENST00000509263;ENST00000507010;ENST00000515432;ENST00000503822|ENST00000514671	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77205	.|0.4096	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73742	.|-0.3887	.|4	0.40728|.	T|.	0.16|.	.|.	20.5632|20.5632	0.99335|0.99335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	149;149;130;97;124;82;149;51;130|52	.|.	ENSP00000307544:E124X|.	E|G	-|-	1|2	0|0	HNRNPD|HNRNPD	83499662|83499662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.368000|7.368000	0.79567|0.79567	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.358	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		11	96	11	96	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41005012	41005012	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr5:41005012T>C	ENST00000399564.4	-	36	4325	c.3875A>G	c.(3874-3876)gAa>gGa	p.E1292G	MROH2B_ENST00000506092.2_Missense_Mutation_p.E847G	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1292																	AAGGATTGGTTCCTTCATGAG	0.488																																						ENST00000399564.4																			0											c.(3874-3876)gAa>gGa		maestro heat-like repeat family member 2B							90.0	86.0	87.0					5																	41005012		1993	4165	6158	SO:0001583	missense	133558							g.chr5:41005012T>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3875A>G	5.37:g.41005012T>C	ENSP00000382476:p.Glu1292Gly		Somatic				MROH2B_ENST00000506092.2_Missense_Mutation_p.E847G	p.E1292G	NM_173489.4	NP_775760.3	WXS	Illumina GAIIx	Phase_I					36	4325	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.3875A>G	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306492	0.81247	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.66280	-0.2;-0.2	6.0	6.0	0.97389	Armadillo-type fold (1);	3.322900	0.00424	N	0.000065	T	0.69744	0.3145	L	0.43152	1.355	0.38016	D	0.934704	D	0.58620	0.983	P	0.53062	0.717	T	0.53436	-0.8439	10	0.19590	T	0.45	.	12.9028	0.58135	0.0:0.0:0.0:1.0	.	1292	Q7Z745	HTRB2_HUMAN	G	847;997;1292	ENSP00000441504:E847G;ENSP00000382476:E1292G	ENSP00000296803:E997G	E	-	2	0	HEATR7B2	41040769	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.913000	0.56394	2.304000	0.77564	0.523000	0.50628	GAA		0.488	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		7	60	7	60	---	---	---	---
EYS	346007	broad.mit.edu	37	6	66115187	66115187	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:66115187G>A	ENST00000370621.3	-	6	1462	c.936C>T	c.(934-936)agC>agT	p.S312S	EYS_ENST00000370616.2_Silent_p.S312S|EYS_ENST00000370618.3_Silent_p.S312S|EYS_ENST00000342421.5_Silent_p.S312S|EYS_ENST00000503581.1_Silent_p.S312S|EYS_ENST00000393380.2_Silent_p.S312S			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	312					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAGCAGAACTGCTATTTGGGC	0.378																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(934-936)agC>agT		eyes shut homolog (Drosophila)							161.0	166.0	164.0					6																	66115187		2203	4300	6503	SO:0001819	synonymous_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66115187G>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.936C>T	6.37:g.66115187G>A			Somatic				EYS_ENST00000393380.2_Silent_p.S312S|EYS_ENST00000370616.2_Silent_p.S312S|EYS_ENST00000370621.3_Silent_p.S312S|EYS_ENST00000370618.3_Silent_p.S312S|EYS_ENST00000342421.5_Silent_p.S312S	p.S312S	NM_001142800.1	NP_001136272.1	WXS	Illumina GAIIx	Phase_I	Q5T1H1	EYS_HUMAN			6	1473	-			312					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37	c.936C>T																																																																																					0.378	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		10	131	10	131	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91667795	91667795	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:91667795A>G	ENST00000359028.2	+	18	4662	c.4437A>G	c.(4435-4437)ggA>ggG	p.G1479G	AKAP9_ENST00000356239.3_Silent_p.G1467G|AKAP9_ENST00000358100.2_Silent_p.G1479G			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1479					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATCTGGGGGAAAAGAAAATA	0.318			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(4435-4437)ggA>ggG		A kinase (PRKA) anchor protein 9							62.0	62.0	62.0					7																	91667795		2203	4299	6502	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91667795A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4437A>G	7.37:g.91667795A>G			Somatic				AKAP9_ENST00000358100.2_Silent_p.G1479G|AKAP9_ENST00000356239.3_Silent_p.G1467G	p.G1479G			WXS	Illumina GAIIx	Phase_I	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		18	4662	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1479					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.4437A>G																																																																																					0.318	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		4	63	4	63	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113518488	113518488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:113518488C>A	ENST00000284601.3	-	4	2727	c.2659G>T	c.(2659-2661)Gaa>Taa	p.E887*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	887					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTGATAATTCTTGAACCTGC	0.363																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(2659-2661)Gaa>Taa		protein phosphatase 1, regulatory subunit 3A							86.0	83.0	84.0					7																	113518488		2202	4299	6501	SO:0001587	stop_gained	5506				glycogen metabolic process	integral to membrane		g.chr7:113518488C>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2659G>T	7.37:g.113518488C>A	ENSP00000284601:p.Glu887*		Somatic					p.E887*	NM_002711.3	NP_002702.2	WXS	Illumina GAIIx	Phase_I	Q16821	PPR3A_HUMAN			4	2727	-			887					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	ENST00000284601.3	37	c.2659G>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028904	0.75504	.	.	ENSG00000154415	ENST00000284601	.	.	.	5.81	3.0	0.34707	.	0.509628	0.19051	N	0.124031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.6972	7.241	0.26096	0.0:0.7121:0.1404:0.1475	.	.	.	.	X	887	.	ENSP00000284601:E887X	E	-	1	0	PPP1R3A	113305724	0.537000	0.26386	1.000000	0.80357	0.148000	0.21650	0.790000	0.26900	0.768000	0.33290	0.650000	0.86243	GAA		0.363	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		5	96	5	96	---	---	---	---
OR2A14	135941	broad.mit.edu	37	7	143826812	143826812	+	Missense_Mutation	SNP	G	G	A	rs199919624		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:143826812G>A	ENST00000408899.2	+	1	662	c.607G>A	c.(607-609)Gtg>Atg	p.V203M		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGCAGCCTGCGTGTTCATCCT	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		20177	0.0		0.001	False		,,,				2504	0.0					ENST00000408899.2																			0				large_intestine(4)|lung(17)|skin(1)	22						c.(607-609)Gtg>Atg		olfactory receptor, family 2, subfamily A, member 14							153.0	159.0	157.0					7																	143826812		2046	4198	6244	SO:0001583	missense	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826812G>A		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.607G>A	7.37:g.143826812G>A	ENSP00000386137:p.Val203Met		Somatic					p.V203M	NM_001001659.1	NP_001001659.1	WXS	Illumina GAIIx	Phase_I	Q96R47	O2A14_HUMAN			1	662	+	Melanoma(164;0.0783)		203					Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	c.607G>A	CCDS43672.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	1.265	-0.614712	0.03663	.	.	ENSG00000221938	ENST00000408899	T	0.41065	1.01	4.18	-0.71	0.11234	GPCR, rhodopsin-like superfamily (1);	0.308595	0.17550	U	0.170216	T	0.36193	0.0958	L	0.61387	1.9	0.09310	N	1	B	0.28082	0.2	B	0.34346	0.18	T	0.37865	-0.9687	10	0.62326	D	0.03	-15.1716	3.8812	0.09079	0.4317:0.0:0.405:0.1634	.	203	Q96R47	O2A14_HUMAN	M	203	ENSP00000386137:V203M	ENSP00000386137:V203M	V	+	1	0	OR2A14	143457745	0.000000	0.05858	0.019000	0.16419	0.001000	0.01503	-0.374000	0.07484	-0.054000	0.13266	-2.357000	0.00240	GTG		0.577	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			41	356	41	356	---	---	---	---
INTS10	55174	broad.mit.edu	37	8	19682476	19682476	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:19682476C>T	ENST00000397977.3	+	8	1397	c.999C>T	c.(997-999)ctC>ctT	p.L333L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	333					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGCCATCTCTCTTCCAAGGTT	0.398																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(997-999)ctC>ctT		integrator complex subunit 10							88.0	82.0	84.0					8																	19682476		1905	4115	6020	SO:0001819	synonymous_variant	55174				snRNA processing	integrator complex	protein binding	g.chr8:19682476C>T	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.999C>T	8.37:g.19682476C>T			Somatic					p.L333L	NM_018142.2	NP_060612.2	WXS	Illumina GAIIx	Phase_I	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	8	1397	+			333					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Silent	SNP	ENST00000397977.3	37	c.999C>T	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	C	8.936	0.964609	0.18583	.	.	ENSG00000104613	ENST00000523846	.	.	.	5.82	1.95	0.26073	.	.	.	.	.	T	0.53302	0.1788	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39722	-0.9600	4	.	.	.	-15.9663	5.585	0.17269	0.3042:0.5126:0.1163:0.0668	.	.	.	.	F	109	.	.	S	+	2	0	INTS10	19726756	0.285000	0.24296	0.999000	0.59377	0.918000	0.54935	-0.414000	0.07114	0.076000	0.16826	0.467000	0.42956	TCT		0.398	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		3	52	3	52	---	---	---	---
WWP1	11059	broad.mit.edu	37	8	87423858	87423858	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:87423858T>G	ENST00000517970.1	+	9	1123	c.816T>G	c.(814-816)aaT>aaG	p.N272K	WWP1_ENST00000341922.2_Missense_Mutation_p.N142K|WWP1_ENST00000265428.4_Missense_Mutation_p.N272K|WWP1_ENST00000349423.2_Missense_Mutation_p.N54K	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	272					central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGTCTCCAAATTGCACTAGTA	0.413																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(814-816)aaT>aaG		WW domain containing E3 ubiquitin protein ligase 1							121.0	115.0	117.0					8																	87423858		2203	4300	6503	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87423858T>G	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.816T>G	8.37:g.87423858T>G	ENSP00000427793:p.Asn272Lys		Somatic				WWP1_ENST00000349423.2_Missense_Mutation_p.N54K|WWP1_ENST00000341922.2_Missense_Mutation_p.N142K|WWP1_ENST00000265428.4_Missense_Mutation_p.N272K	p.N272K	NM_007013.3	NP_008944.1	WXS	Illumina GAIIx	Phase_I	Q9H0M0	WWP1_HUMAN			9	1123	+			272					O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.816T>G	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	T	7.889	0.731831	0.15507	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.42513	1.02;1.02;0.97;1.04	5.73	1.97	0.26223	.	1.366900	0.04829	N	0.438462	T	0.21267	0.0512	N	0.08118	0	0.26785	N	0.969525	B;B	0.15473	0.013;0.0	B;B	0.16289	0.015;0.0	T	0.23226	-1.0194	10	0.10377	T	0.69	.	4.7879	0.13234	0.0:0.2453:0.1502:0.6045	.	54;272	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	K	272;272;142;54	ENSP00000427793:N272K;ENSP00000265428:N272K;ENSP00000340564:N142K;ENSP00000342665:N54K	ENSP00000265428:N272K	N	+	3	2	WWP1	87492974	1.000000	0.71417	0.069000	0.20011	0.976000	0.68499	1.784000	0.38674	0.097000	0.17492	0.528000	0.53228	AAT		0.413	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		30	55	30	55	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89180005	89180005	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:89180005C>T	ENST00000286614.6	-	4	883	c.602G>A	c.(601-603)gGa>gAa	p.G201E	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	201					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TCCTCCCTCTCCATCAAAGGG	0.443																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(601-603)gGa>gAa		matrix metallopeptidase 16 (membrane-inserted)							91.0	80.0	84.0					8																	89180005		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89180005C>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.602G>A	8.37:g.89180005C>T	ENSP00000286614:p.Gly201Glu		Somatic				MMP16_ENST00000544227.1_5'UTR	p.G201E	NM_005941.4	NP_005932.2	WXS	Illumina GAIIx	Phase_I	P51512	MMP16_HUMAN			4	883	-			201					B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.602G>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172264	0.94807	.	.	ENSG00000156103	ENST00000286614	T	0.27557	1.66	5.5	5.5	0.81552	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.096958	0.64402	D	0.000001	T	0.72170	0.3427	H	0.97240	3.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82946	-0.0205	10	0.87932	D	0	.	19.4741	0.94979	0.0:1.0:0.0:0.0	.	201;201	P51512-2;P51512	.;MMP16_HUMAN	E	201	ENSP00000286614:G201E	ENSP00000286614:G201E	G	-	2	0	MMP16	89249121	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.751000	0.85126	2.602000	0.87976	0.644000	0.83932	GGA		0.443	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		36	75	36	75	---	---	---	---
TG	7038	broad.mit.edu	37	8	133925308	133925308	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:133925308C>T	ENST00000220616.4	+	20	4216	c.4176C>T	c.(4174-4176)ggC>ggT	p.G1392G	TG_ENST00000377869.1_Silent_p.G1392G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1392					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTTGGTGGGCAAGGATCTCC	0.557																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4174-4176)ggC>ggT		thyroglobulin							87.0	76.0	80.0					8																	133925308		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133925308C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4176C>T	8.37:g.133925308C>T			Somatic				TG_ENST00000377869.1_Silent_p.G1392G	p.G1392G	NM_003235.4	NP_003226.4	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	20	4216	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1392					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.4176C>T	CCDS34944.1																																																																																				0.557	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		27	43	27	43	---	---	---	---
ARHGAP39	80728	broad.mit.edu	37	8	145773444	145773444	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:145773444G>A	ENST00000276826.5	-	4	1227	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000540274.1_Silent_p.A342A|ARHGAP39_ENST00000377307.2_Silent_p.A342A			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	342	Pro-rich.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGGGAGAGCCGGCCTGGTAGC	0.706																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1024-1026)gcC>gcT		Rho GTPase activating protein 39							14.0	17.0	16.0					8																	145773444		2078	4114	6192	SO:0001819	synonymous_variant	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145773444G>A		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1026C>T	8.37:g.145773444G>A			Somatic				ARHGAP39_ENST00000540274.1_Silent_p.A342A|ARHGAP39_ENST00000377307.2_Silent_p.A342A	p.A342A			WXS	Illumina GAIIx	Phase_I	Q9C0H5	RHG39_HUMAN			4	1227	-			342			Pro-rich.		B4E1I1	Silent	SNP	ENST00000276826.5	37	c.1026C>T																																																																																					0.706	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			7	63	7	63	---	---	---	---
ANKRD19P	138649	broad.mit.edu	37	9	95599910	95599910	+	RNA	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr9:95599910T>C	ENST00000473204.1	+	0	1991							Q9H560	ANR19_HUMAN	ankyrin repeat domain 19, pseudogene							extracellular vesicular exosome (GO:0070062)											TTTGAACTTGTCGAACCAGAT	0.557																																						ENST00000473204.1																			0																																																			138649							g.chr9:95599910T>C	BC038951		9q22.32	2011-04-27	2011-04-27	2011-04-27	ENSG00000187984	ENSG00000187984			22567	pseudogene	pseudogene			"""ankyrin repeat domain 19"", ""ankyrin repeat domain 19 pseudogene"""	ANKRD19			Standard	NR_026868		Approved	FLJ36178	uc011lua.1	Q9H560	OTTHUMG00000020237		9.37:g.95599910T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	1991	+								A8K853|Q17RD3	RNA	SNP	ENST00000473204.1	37																																																																																						0.557	ANKRD19P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000053116.3	NR_026868		3	63	3	63	---	---	---	---
ANXA11	311	broad.mit.edu	37	10	81917453	81917453	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr10:81917453C>A	ENST00000438331.1	-	16	1884	c.1402G>T	c.(1402-1404)Gac>Tac	p.D468Y	ANXA11_ENST00000535999.1_Missense_Mutation_p.D468Y|ANXA11_ENST00000360615.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000265447.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000422982.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000537102.1_Missense_Mutation_p.D435Y|ANXA11_ENST00000372231.3_Missense_Mutation_p.D468Y	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	468					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GATCTGATGTCCAGGAGGTCG	0.577																																						ENST00000438331.1																			0				endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17						c.(1402-1404)Gac>Tac		annexin A11							142.0	125.0	131.0					10																	81917453		2203	4300	6503	SO:0001583	missense	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81917453C>A	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.1402G>T	10.37:g.81917453C>A	ENSP00000398610:p.Asp468Tyr		Somatic				ANXA11_ENST00000265447.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000372231.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000360615.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000537102.1_Missense_Mutation_p.D435Y|ANXA11_ENST00000422982.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000535999.1_Missense_Mutation_p.D468Y	p.D468Y	NM_145869.1	NP_665876.1	WXS	Illumina GAIIx	Phase_I	P50995	ANX11_HUMAN	Colorectal(32;0.109)		16	1884	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		468					B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	c.1402G>T	CCDS7364.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.5|26.5	4.741048|4.741048	0.89573|0.89573	.|.	.|.	ENSG00000122359|ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000424188;ENST00000537102;ENST00000372219|ENST00000447489	T;T;T;T;T;T;T|.	0.03468|.	3.92;3.92;3.92;3.92;3.92;3.92;3.92|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Annexin repeat, conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76335|0.76335	0.3973|0.3973	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;1.0;1.0|.	P;D;D|.	0.83275|.	0.843;0.996;0.996|.	T|T	0.76990|0.76990	-0.2754|-0.2754	10|5	0.66056|.	D|.	0.02|.	.|.	16.5377|16.5377	0.84377|0.84377	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	568;468;468|.	B7Z6L0;Q5T0G8;P50995|.	.;.;ANX11_HUMAN|.	Y|C	468;468;468;468;468;468;468;375;435;115|100	ENSP00000361305:D468Y;ENSP00000404412:D468Y;ENSP00000398610:D468Y;ENSP00000353827:D468Y;ENSP00000265447:D468Y;ENSP00000441748:D468Y;ENSP00000441400:D435Y|.	ENSP00000265447:D468Y|.	D|W	-|-	1|3	0|0	ANXA11|ANXA11	81907433|81907433	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.864000|0.864000	0.49448|0.49448	7.361000|7.361000	0.79497|0.79497	2.575000|2.575000	0.86900|0.86900	0.561000|0.561000	0.74099|0.74099	GAC|TGG		0.577	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		7	93	7	93	---	---	---	---
TRIM5	85363	broad.mit.edu	37	11	5686409	5686409	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:5686409C>T	ENST00000380034.3	-	8	1368	c.1112G>A	c.(1111-1113)tGg>tAg	p.W371*	TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000305836.5_Nonsense_Mutation_p.W371*|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000380027.1_Intron	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	371	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CCCCAGGATCCAAGCAGTTTT	0.403																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1111-1113)tGg>tAg		tripartite motif containing 5							113.0	112.0	112.0					11																	5686409		2201	4297	6498	SO:0001587	stop_gained	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5686409C>T	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.1112G>A	11.37:g.5686409C>T	ENSP00000369373:p.Trp371*		Somatic				TRIM5_ENST00000380034.3_Nonsense_Mutation_p.W371*|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000380027.1_Intron	p.W371*			WXS	Illumina GAIIx	Phase_I	Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	8	1414	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	371			B30.2/SPRY.		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Nonsense_Mutation	SNP	ENST00000380034.3	37	c.1112G>A	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	C	34	5.355516	0.95854	.	.	ENSG00000132256	ENST00000305836;ENST00000380034	.	.	.	3.71	3.71	0.42584	.	0.000000	0.43579	D	0.000553	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2557	0.49052	0.0:1.0:0.0:0.0	.	.	.	.	X	371	.	ENSP00000307031:W371X	W	-	2	0	TRIM5	5642985	1.000000	0.71417	0.489000	0.27452	0.125000	0.20455	4.827000	0.62723	2.374000	0.81015	0.655000	0.94253	TGG		0.403	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		7	210	7	210	---	---	---	---
OR56A1	120796	broad.mit.edu	37	11	6048227	6048227	+	Silent	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:6048227T>C	ENST00000316650.5	-	1	744	c.708A>G	c.(706-708)aaA>aaG	p.K236K		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCCTCTGCTTTGAATCTAA	0.488																																						ENST00000316650.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33						c.(706-708)aaA>aaG		olfactory receptor, family 56, subfamily A, member 1							45.0	45.0	45.0					11																	6048227		2201	4296	6497	SO:0001819	synonymous_variant	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048227T>C	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.708A>G	11.37:g.6048227T>C			Somatic					p.K236K	NM_001001917.2	NP_001001917.2	WXS	Illumina GAIIx	Phase_I	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	744	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	236					B2RNI2|Q6IFL0	Silent	SNP	ENST00000316650.5	37	c.708A>G	CCDS31405.1																																																																																				0.488	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		37	51	37	51	---	---	---	---
MUC15	143662	broad.mit.edu	37	11	26586841	26586841	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:26586841C>T	ENST00000455601.2	-	2	683	c.565G>A	c.(565-567)Gga>Aga	p.G189R	ANO3_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.G216R|MUC15_ENST00000527569.1_Missense_Mutation_p.G216R|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.G216R|MUC15_ENST00000436318.2_Missense_Mutation_p.G216R	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	189					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTAAGCCATCCACTTGGTTCC	0.413																																						ENST00000436318.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(646-648)Gga>Aga		mucin 15, cell surface associated							128.0	124.0	126.0					11																	26586841		2203	4300	6503	SO:0001583	missense	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26586841C>T	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.565G>A	11.37:g.26586841C>T	ENSP00000397339:p.Gly189Arg		Somatic				ANO3_ENST00000525139.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.G216R|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.G189R|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.G216R|MUC15_ENST00000529533.1_Missense_Mutation_p.G216R|ANO3_ENST00000537978.1_Intron	p.G216R			WXS	Illumina GAIIx	Phase_I	Q8N387	MUC15_HUMAN			2	779	-			189					B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	c.646G>A	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390849	0.25118	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.29917	1.67;1.63;1.55;1.63;1.55	4.46	1.35	0.21983	.	1.705140	0.03458	N	0.211773	T	0.20129	0.0484	L	0.38175	1.15	0.09310	N	1	B;B;B	0.32031	0.352;0.037;0.037	B;B;B	0.29176	0.099;0.012;0.012	T	0.12192	-1.0557	10	0.05721	T	0.95	-6.1003	4.6553	0.12615	0.0:0.6:0.1796:0.2204	.	216;189;216	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	R	189;216;216;216;216	ENSP00000397339:G189R;ENSP00000416753:G216R;ENSP00000281268:G216R;ENSP00000431983:G216R;ENSP00000431945:G216R	ENSP00000281268:G216R	G	-	1	0	MUC15	26543417	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	0.162000	0.16501	0.159000	0.19401	0.650000	0.86243	GGA		0.413	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		7	107	7	107	---	---	---	---
SLC5A12	159963	broad.mit.edu	37	11	26702725	26702725	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:26702725C>A	ENST00000396005.3	-	12	1661	c.1352G>T	c.(1351-1353)tGg>tTg	p.W451L		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	451					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AATGGCCACCCAAAATGACAA	0.448																																						ENST00000396005.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(1351-1353)tGg>tTg		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							65.0	62.0	63.0					11																	26702725		1894	4108	6002	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26702725C>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1352G>T	11.37:g.26702725C>A	ENSP00000379326:p.Trp451Leu		Somatic					p.W451L	NM_178498.3	NP_848593.2	WXS	Illumina GAIIx	Phase_I	Q1EHB4	SC5AC_HUMAN			12	1661	-			451					Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.1352G>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765467	0.90020	.	.	ENSG00000148942	ENST00000396005	D	0.87809	-2.3	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.94407	0.8201	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95022	0.8161	10	0.87932	D	0	.	18.1964	0.89823	0.0:1.0:0.0:0.0	.	451	Q1EHB4	SC5AC_HUMAN	L	451	ENSP00000379326:W451L	ENSP00000379326:W451L	W	-	2	0	SLC5A12	26659301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.863000	0.69568	2.590000	0.87494	0.655000	0.94253	TGG		0.448	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		3	35	3	35	---	---	---	---
KIAA1549L	25758	broad.mit.edu	37	11	33581376	33581376	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:33581376G>A	ENST00000321505.4	+	6	3226	c.3046G>A	c.(3046-3048)Gtc>Atc	p.V1016I	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.V1022I|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1022I			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1016						integral component of membrane (GO:0016021)											CAACGGCACCGTCGCCAGCAG	0.567																																						ENST00000321505.4																			0											c.(3046-3048)Gtc>Atc		KIAA1549-like							108.0	113.0	111.0					11																	33581376		2145	4243	6388	SO:0001583	missense	25758							g.chr11:33581376G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3046G>A	11.37:g.33581376G>A	ENSP00000315295:p.Val1016Ile		Somatic				KIAA1549L_ENST00000265654.5_Missense_Mutation_p.V1022I|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1022I	p.V1016I			WXS	Illumina GAIIx	Phase_I					6	3226	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3046G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741681	0.30865	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.41	4.48	0.54585	.	0.382410	0.29073	N	0.013222	T	0.23766	0.0575	L	0.33485	1.01	0.09310	N	1	P;P	0.44986	0.847;0.484	B;B	0.37451	0.25;0.108	T	0.09207	-1.0685	9	0.23302	T	0.38	-12.4527	10.2632	0.43438	0.2121:0.0:0.7879:0.0	.	1022;1022	E9PAT2;Q6ZVL6-2	.;.	I	1016;1022;1022;855	.	ENSP00000265654:V1022I	V	+	1	0	C11orf41	33537952	0.339000	0.24784	0.054000	0.19295	0.858000	0.48976	1.605000	0.36815	1.396000	0.46663	0.567000	0.79289	GTC		0.567	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		15	219	15	219	---	---	---	---
CAPRIN2	65981	broad.mit.edu	37	12	30867973	30867973	+	Missense_Mutation	SNP	T	T	A	rs534484327		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr12:30867973T>A	ENST00000395805.2	-	14	2949	c.2402A>T	c.(2401-2403)aAt>aTt	p.N801I	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.N523I|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.N807I|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.N857I|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.N856I	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCCCCGGCTATTGACAAATGG	0.438																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(2569-2571)aAt>aTt		caprin family member 2							142.0	134.0	137.0					12																	30867973		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30867973T>A	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.2402A>T	12.37:g.30867973T>A	ENSP00000379150:p.Asn801Ile		Somatic				CAPRIN2_ENST00000298892.5_Missense_Mutation_p.N807I|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.N856I|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.N523I|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.N801I	p.N857I	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	WXS	Illumina GAIIx	Phase_I	Q6IMN6	CAPR2_HUMAN			15	3320	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		857						Missense_Mutation	SNP	ENST00000395805.2	37	c.2570A>T	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.668702	0.47677	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76	5.54	-5.33	0.02713	.	0.744650	0.13375	N	0.392571	T	0.21550	0.0519	L	0.47190	1.495	0.18873	N	0.999982	P;P;P;B;P	0.45715	0.642;0.865;0.551;0.435;0.551	B;B;B;B;B	0.42882	0.25;0.401;0.239;0.116;0.239	T	0.19257	-1.0311	10	0.87932	D	0	-0.3039	11.7206	0.51680	0.0:0.5909:0.1056:0.3036	.	801;856;857;807;856	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;CAPR2_HUMAN;.;.	I	602;807;801;857;523;856	ENSP00000415407:N602I;ENSP00000298892:N807I;ENSP00000379150:N801I;ENSP00000251071:N857I;ENSP00000309785:N523I;ENSP00000391479:N856I	ENSP00000251071:N857I	N	-	2	0	CAPRIN2	30759240	0.018000	0.18449	0.042000	0.18584	0.966000	0.64601	-0.387000	0.07361	-0.916000	0.03818	0.533000	0.62120	AAT		0.438	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		4	135	4	135	---	---	---	---
ABCC4	10257	broad.mit.edu	37	13	95862991	95862991	+	Silent	SNP	G	G	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr13:95862991G>C	ENST00000376887.4	-	5	690	c.576C>G	c.(574-576)ggC>ggG	p.G192G	snoU13_ENST00000459449.1_RNA|ABCC4_ENST00000431522.1_Silent_p.G192G|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Silent_p.G192G|ABCC4_ENST00000536256.1_Silent_p.G117G	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	192	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TGACTATCTGGCCTGTGGTTG	0.438																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(574-576)ggC>ggG		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						177.0	133.0	148.0					13																	95862991		2203	4300	6503	SO:0001819	synonymous_variant	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95862991G>C	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.576C>G	13.37:g.95862991G>C			Somatic				ABCC4_ENST00000412704.1_Silent_p.G192G|ABCC4_ENST00000536256.1_Silent_p.G117G|ABCC4_ENST00000431522.1_Silent_p.G192G|ABCC4_ENST00000538287.1_3'UTR	p.G192G	NM_005845.3	NP_005836.2	WXS	Illumina GAIIx	Phase_I	O15439	MRP4_HUMAN			5	690	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		192			ABC transmembrane type-1 1.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	ENST00000376887.4	37	c.576C>G	CCDS9474.1																																																																																				0.438	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		6	42	6	42	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105407424	105407424	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr14:105407424C>G	ENST00000333244.5	-	7	14483	c.14364G>C	c.(14362-14364)gaG>gaC	p.E4788D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4788						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTGTAACATCCTCACAGGGAG	0.498																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(14362-14364)gaG>gaC		AHNAK nucleoprotein 2							94.0	97.0	96.0					14																	105407424		1934	4136	6070	SO:0001583	missense	113146					nucleus		g.chr14:105407424C>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.14364G>C	14.37:g.105407424C>G	ENSP00000353114:p.Glu4788Asp		Somatic				AHNAK2_ENST00000557457.1_Intron	p.E4788D	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	14483	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4788					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.14364G>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	7.973	0.749496	0.15778	.	.	ENSG00000185567	ENST00000333244	T	0.08370	3.1	3.86	0.277	0.15668	.	.	.	.	.	T	0.03564	0.0102	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.46938	-0.9155	9	0.12766	T	0.61	.	1.451	0.02375	0.3535:0.3505:0.1296:0.1664	.	4788	Q8IVF2	AHNK2_HUMAN	D	4788	ENSP00000353114:E4788D	ENSP00000353114:E4788D	E	-	3	2	AHNAK2	104478469	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-3.310000	0.00517	-0.208000	0.10171	0.460000	0.39030	GAG		0.498	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		36	80	36	80	---	---	---	---
SEC14L5	9717	broad.mit.edu	37	16	5038194	5038194	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr16:5038194G>A	ENST00000251170.7	+	4	438	c.258G>A	c.(256-258)ttG>ttA	p.L86L		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	86	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CAAACATCTTGAACTGGAAGG	0.622																																						ENST00000251170.7																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(256-258)ttG>ttA		SEC14-like 5 (S. cerevisiae)							56.0	58.0	57.0					16																	5038194		2152	4255	6407	SO:0001819	synonymous_variant	9717					integral to membrane|intracellular	transporter activity	g.chr16:5038194G>A	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.258G>A	16.37:g.5038194G>A			Somatic					p.L86L	NM_014692.1	NP_055507.1	WXS	Illumina GAIIx	Phase_I	O43304	S14L5_HUMAN			4	438	+			86			PRELI/MSF1.			Silent	SNP	ENST00000251170.7	37	c.258G>A	CCDS45403.1																																																																																				0.622	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			18	35	18	35	---	---	---	---
FHOD1	29109	broad.mit.edu	37	16	67264087	67264087	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr16:67264087G>A	ENST00000258201.4	-	20	3343	c.3096C>T	c.(3094-3096)ccC>ccT	p.P1032P		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1032					positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CTGGGACAGAGGGGTTGCTGG	0.597																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(3094-3096)ccC>ccT		formin homology 2 domain containing 1							48.0	54.0	52.0					16																	67264087		2198	4300	6498	SO:0001819	synonymous_variant	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67264087G>A	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3096C>T	16.37:g.67264087G>A			Somatic					p.P1032P	NM_013241.2	NP_037373.2	WXS	Illumina GAIIx	Phase_I	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	20	3343	-		Ovarian(137;0.0563)	1032					Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	ENST00000258201.4	37	c.3096C>T	CCDS10834.1																																																																																				0.597	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			53	103	53	103	---	---	---	---
GGN	199720	broad.mit.edu	37	19	38876987	38876987	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:38876987A>G	ENST00000334928.6	-	3	1047	c.915T>C	c.(913-915)gtT>gtC	p.V305V	GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	305	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCCTCGAGAAACCTCTCCCA	0.697																																						ENST00000334928.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(913-915)gtT>gtC		gametogenetin							14.0	17.0	16.0					19																	38876987		2191	4276	6467	SO:0001819	synonymous_variant	199720				cell differentiation|multicellular organismal development|spermatogenesis			g.chr19:38876987A>G	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.915T>C	19.37:g.38876987A>G			Somatic				GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA	p.V305V	NM_152657.3	NP_689870.3	WXS	Illumina GAIIx	Phase_I	Q86UU5	GGN_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	1047	-	all_cancers(60;3.4e-06)		305			Interaction with GGNBP1 (By similarity).|Pro-rich.		Q7RTU6|Q86UU4|Q8NAA1	Silent	SNP	ENST00000334928.6	37	c.915T>C	CCDS12516.1																																																																																				0.697	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		4	39	4	39	---	---	---	---
NOVA2	4858	broad.mit.edu	37	19	46457064	46457064	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:46457064T>A	ENST00000263257.5	-	3	564	c.370A>T	c.(370-372)Acg>Tcg	p.T124S		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	124					regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GGGTTCATCGTGGTTTGGGGT	0.527																																						ENST00000263257.5																			0				endometrium(3)|large_intestine(5)|lung(13)	21						c.(370-372)Acg>Tcg		neuro-oncological ventral antigen 2							305.0	259.0	274.0					19																	46457064		2203	4300	6503	SO:0001583	missense	4858					nucleus	RNA binding	g.chr19:46457064T>A	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.370A>T	19.37:g.46457064T>A	ENSP00000263257:p.Thr124Ser		Somatic					p.T124S	NM_002516.2	NP_002507.1	WXS	Illumina GAIIx	Phase_I	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	3	564	-		all_neural(266;0.113)|Ovarian(192;0.127)	124					O43267|Q9UEA1	Missense_Mutation	SNP	ENST00000263257.5	37	c.370A>T	CCDS12679.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471471	0.63737	.	.	ENSG00000104967	ENST00000263257	T	0.62639	0.01	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.63153	0.2487	N	0.24115	0.695	0.50632	D	0.999888	D	0.63880	0.993	D	0.68192	0.956	T	0.58306	-0.7659	10	0.18710	T	0.47	-5.6018	12.4742	0.55803	0.0:0.0:0.0:1.0	.	124	Q9UNW9	NOVA2_HUMAN	S	124	ENSP00000263257:T124S	ENSP00000263257:T124S	T	-	1	0	NOVA2	51148904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.508000	0.81686	2.046000	0.60703	0.460000	0.39030	ACG		0.527	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		61	144	61	144	---	---	---	---
EVI5	7813	broad.mit.edu	37	1	92979385	92979385	+	Frame_Shift_Del	DEL	C	C	-	rs146602523		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:92979385delC	ENST00000370331.1	-	18	2270	c.2261delG	c.(2260-2262)ggtfs	p.G754fs	EVI5_ENST00000543509.1_Frame_Shift_Del_p.G765fs|EVI5_ENST00000540033.1_Frame_Shift_Del_p.G754fs	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	754	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AAAACCAACACCAGTTTCCTG	0.433																																						ENST00000370331.1																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38						c.(2260-2262)ggtfs		ecotropic viral integration site 5							74.0	77.0	76.0					1																	92979385		2203	4300	6503	SO:0001589	frameshift_variant	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:92979385delC	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.2261delG	1.37:g.92979385delC	ENSP00000359356:p.Gly754fs		Somatic				EVI5_ENST00000540033.1_Frame_Shift_Del_p.G754fs|EVI5_ENST00000543509.1_Frame_Shift_Del_p.G765fs	p.G754fs	NM_005665.4	NP_005656.4	WXS	Illumina GAIIx	Phase_I	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	18	2270	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	754			Interaction with AURKB and INCENP.|Targeting to the centrosomes.		A6NKX8|B9A6J0|Q9H1Y9	Frame_Shift_Del	DEL	ENST00000370331.1	37	c.2261delG	CCDS30774.1																																																																																				0.433	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		36	79	36	79	---	---	---	---
