#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_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
C6orf136	221545	broad.mit.edu	37	6	30619209	30619209	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr6:30619209C>T	ENST00000376473.5	+	4	889	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	C6orf136_ENST00000376471.4_Missense_Mutation_p.R110W|AL662800.2_ENST00000583820.1_RNA|C6orf136_ENST00000528347.2_Missense_Mutation_p.R101W|C6orf136_ENST00000293604.6_Missense_Mutation_p.R425W	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	244						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GCTCTTTTTGCGGTTCTACAA	0.498																																						ENST00000293604.6																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						c.(1273-1275)Cgg>Tgg		chromosome 6 open reading frame 136							123.0	140.0	135.0					6																	30619209		2203	4300	6503	SO:0001583	missense	221545							g.chr6:30619209C>T	BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.730C>T	6.37:g.30619209C>T	ENSP00000365656:p.Arg244Trp					C6orf136_ENST00000376471.4_Missense_Mutation_p.R110W|C6orf136_ENST00000376473.5_Missense_Mutation_p.R244W|C6orf136_ENST00000528347.2_Missense_Mutation_p.R101W	p.R425W	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN			4	1466	+			244					A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	ENST00000376473.5	37	c.1273C>T	CCDS43443.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148824	0.78001	.	.	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000376471;ENST00000446773;ENST00000528347;ENST00000465699;ENST00000467801;ENST00000468785	.	.	.	5.26	4.38	0.52667	.	0.175130	0.51477	D	0.000081	T	0.59932	0.2230	L	0.44542	1.39	0.40423	D	0.97986	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.78314	0.981;0.849;0.991	T	0.62751	-0.6788	9	0.72032	D	0.01	-9.0868	11.6498	0.51282	0.0:0.9144:0.0:0.0856	.	110;425;244	A9R9P9;F8VX15;Q5SQH8	.;.;CF136_HUMAN	W	425;244;110;362;101;66;57;17	.	ENSP00000293604:R425W	R	+	1	2	C6orf136	30727188	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	3.446000	0.52928	2.733000	0.93635	0.655000	0.94253	CGG		0.498	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	NM_145029		6	285	0	0	0	0.029380	0	6	285				
CCDC132	55610	broad.mit.edu	37	7	92869233	92869233	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr7:92869233C>T	ENST00000305866.5	+	2	216	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	CCDC132_ENST00000544910.1_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.R30W|CCDC132_ENST00000535481.1_Missense_Mutation_p.R30W|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	30						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAGAGTCTCCGGGTCCCTGG	0.393																																						ENST00000305866.5																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(88-90)Cgg>Tgg		coiled-coil domain containing 132							97.0	103.0	101.0					7																	92869233		2203	4300	6503	SO:0001583	missense	55610							g.chr7:92869233C>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.88C>T	7.37:g.92869233C>T	ENSP00000307666:p.Arg30Trp					CCDC132_ENST00000544910.1_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.R30W|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.R30W	p.R30W	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		2	216	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		30					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.88C>T	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086561	0.76642	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000458530;ENST00000535481	.	.	.	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.60818	0.2298	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.999	D;P;P	0.63877	0.919;0.853;0.666	T	0.63629	-0.6594	9	0.72032	D	0.01	-11.33	12.7985	0.57571	0.0:1.0:0.0:0.0	.	30;30;30	B4DS55;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	W	30	.	ENSP00000251739:R30W	R	+	1	2	CCDC132	92707169	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.336000	0.52113	2.741000	0.93983	0.485000	0.47835	CGG		0.393	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		3	79	0	0	0	0.009096	0	3	79				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000564451.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000567960.1_RNA								0	1279	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	30	0	0	0	0.021553	0	4	30				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		6	13	0	0	0	0.021553	0	6	13				
OR2B2	81697	broad.mit.edu	37	6	27879450	27879450	+	Silent	SNP	T	T	G			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr6:27879450T>G	ENST00000303324.2	-	1	724	c.648A>C	c.(646-648)atA>atC	p.I216I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I216I(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AAGCATACGATATAAGGATGA	0.443																																						ENST00000303324.2																			1	Substitution - coding silent(1)	p.I216I(1)	prostate(1)	cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						c.(646-648)atA>atC		olfactory receptor, family 2, subfamily B, member 2							124.0	111.0	115.0					6																	27879450		2203	4300	6503	SO:0001819	synonymous_variant	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879450T>G	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.648A>C	6.37:g.27879450T>G							p.I216I	NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN			1	724	-			216					B2RNH2|Q9GZL2|Q9Y299	Silent	SNP	ENST00000303324.2	37	c.648A>C	CCDS4641.1																																																																																				0.443	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			4	67	0	0	0	0.014758	0	4	67				
OBSCN	84033	broad.mit.edu	37	1	228437938	228437938	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr1:228437938G>A	ENST00000422127.1	+	14	4350	c.4306G>A	c.(4306-4308)Gca>Aca	p.A1436T	OBSCN_ENST00000284548.11_Missense_Mutation_p.A1436T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.A1528T|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1436					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTGGACGTGGCAGGTCAGTG	0.632																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(4582-4584)Gca>Aca		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							60.0	72.0	68.0					1																	228437938		2063	4188	6251	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228437938G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4306G>A	1.37:g.228437938G>A	ENSP00000409493:p.Ala1436Thr					OBSCN_ENST00000422127.1_Missense_Mutation_p.A1436T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1436T	p.A1528T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			15	4656	+		Prostate(94;0.0405)	506					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.4582G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	5.432	0.264838	0.10294	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.04454	3.62;3.62	5.2	-7.89	0.01174	Immunoglobulin subtype (1);	1.008250	0.07968	N	0.983494	T	0.01940	0.0061	N	0.16903	0.455	0.22648	N	0.998891	B;B	0.26400	0.021;0.148	B;B	0.18263	0.007;0.021	T	0.45991	-0.9223	10	0.11485	T	0.65	.	3.6033	0.08032	0.348:0.1923:0.3658:0.0939	.	1436;1436	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	1436	ENSP00000284548:A1436T;ENSP00000409493:A1436T	ENSP00000284548:A1436T	A	+	1	0	OBSCN	226504561	0.000000	0.05858	0.044000	0.18714	0.035000	0.12851	-0.964000	0.03833	-1.709000	0.01399	-0.768000	0.03414	GCA		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	106	0	0	0	0.014758	0	4	106				
BIN2	51411	broad.mit.edu	37	12	51696492	51696492	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr12:51696492T>C	ENST00000267012.4	-	4	351	c.290A>G	c.(289-291)gAg>gGg	p.E97G	BIN2_ENST00000452142.2_Missense_Mutation_p.E97G|BIN2_ENST00000604560.1_Missense_Mutation_p.E70G|BIN2_ENST00000544402.1_Missense_Mutation_p.E71G	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	97	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CTTCAGCTCCTCATGACCGTC	0.468																																						ENST00000267012.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						c.(289-291)gAg>gGg		bridging integrator 2							236.0	212.0	220.0					12																	51696492		2203	4300	6503	SO:0001583	missense	51411					cytoplasm	protein binding	g.chr12:51696492T>C	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.290A>G	12.37:g.51696492T>C	ENSP00000267012:p.Glu97Gly					BIN2_ENST00000452142.2_Missense_Mutation_p.E97G|BIN2_ENST00000604560.1_Missense_Mutation_p.E70G|BIN2_ENST00000544402.1_Missense_Mutation_p.E71G	p.E97G	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN			4	351	-			97			BAR.		Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	ENST00000267012.4	37	c.290A>G	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.454155	0.26161	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	T;T;T	0.61859	0.07;0.07;0.07	5.18	3.87	0.44632	BAR (3);	0.135960	0.46758	D	0.000272	T	0.53899	0.1825	M	0.71206	2.165	0.35214	D	0.775389	P;P;P	0.35982	0.475;0.515;0.531	B;B;B	0.35688	0.131;0.208;0.206	T	0.68554	-0.5378	10	0.62326	D	0.03	-10.41	8.8272	0.35063	0.0:0.1251:0.0:0.8749	.	71;97;97	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	G	97;97;71	ENSP00000410217:E97G;ENSP00000267012:E97G;ENSP00000445874:E71G	ENSP00000267012:E97G	E	-	2	0	BIN2	49982759	0.975000	0.34042	0.997000	0.53966	0.022000	0.10575	1.888000	0.39708	2.102000	0.63906	0.533000	0.62120	GAG		0.468	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			3	164	0	0	0	0.004672	0	3	164				
ACAN	176	broad.mit.edu	37	15	89401667	89401667	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr15:89401667G>A	ENST00000561243.1	+	11	5851	c.5851G>A	c.(5851-5853)Gcc>Acc	p.A1951T	ACAN_ENST00000559004.1_Missense_Mutation_p.A1951T|ACAN_ENST00000352105.7_Missense_Mutation_p.A1951T|ACAN_ENST00000439576.2_Missense_Mutation_p.A1951T			P16112	PGCA_HUMAN	aggrecan	1936	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCTCCAACAGCCCAAGAGGC	0.517																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(5851-5853)Gcc>Acc		aggrecan							44.0	46.0	45.0					15																	89401667		1878	4107	5985	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89401667G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5851G>A	15.37:g.89401667G>A	ENSP00000453342:p.Ala1951Thr					ACAN_ENST00000352105.7_Missense_Mutation_p.A1951T|ACAN_ENST00000561243.1_Missense_Mutation_p.A1951T|ACAN_ENST00000559004.1_Missense_Mutation_p.A1951T	p.A1951T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	6225	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1951					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.5851G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217451	0.39201	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02863	4.37;4.13	5.29	5.29	0.74685	.	0.000000	0.32503	N	0.006009	T	0.10337	0.0253	L	0.58302	1.8	0.27146	N	0.961539	P;D	0.71674	0.922;0.998	P;D	0.83275	0.791;0.996	T	0.16394	-1.0404	10	0.22706	T	0.39	-25.1749	11.4087	0.49913	0.0822:0.0:0.9178:0.0	.	1951;1951	E7ENV9;E7EX88	.;.	T	1951;1951;1837	ENSP00000387356:A1951T;ENSP00000341615:A1951T	ENSP00000268134:A1837T	A	+	1	0	ACAN	87202671	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.369000	0.59511	2.468000	0.83385	0.655000	0.94253	GCC		0.517	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		13	64	0	0	0	0.105934	0	13	64				
GYPE	2996	broad.mit.edu	37	4	144826671	144826671	+	De_novo_Start_OutOfFrame	SNP	C	C	T	rs368795769		TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr4:144826671C>T	ENST00000358615.4	-	0	41				GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					CCTGAGATCACGAGCTGGCTC	0.398																																						ENST00000358615.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5								glycophorin E (MNS blood group)							100.0	101.0	101.0					4																	144826671		2203	4300	6503			2996					integral to plasma membrane		g.chr4:144826671C>T		CCDS47138.1	4q31.21	2010-01-19	2010-01-19		ENSG00000197465	ENSG00000197465		"""Blood group antigens"""	4705	protein-coding gene	gene with protein product		138590	"""glycophorin E"""				Standard	NM_198682		Approved	GPE, MNS	uc003ijj.3	P15421	OTTHUMG00000161402	ENST00000358615.4:c.-11G>A	4.37:g.144826671C>T						GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame		NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN			0	41	-	all_hematologic(180;0.158)							D3DNZ5	Translation_Start_Site	SNP	ENST00000358615.4	37		CCDS47138.1																																																																																				0.398	GYPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364780.1	NM_002102		4	50	0	0	0	0.009096	0	4	50				
KLHL10	317719	broad.mit.edu	37	17	40001678	40001678	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr17:40001678C>A	ENST00000293303.4	+	3	1138	c.985C>A	c.(985-987)Cgt>Agt	p.R329S		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	329					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				AGAGAGTCCCCGTGCCTACCA	0.493																																						ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(985-987)Cgt>Agt		kelch-like family member 10							80.0	79.0	79.0					17																	40001678		1944	4134	6078	SO:0001583	missense	317719					cytoplasm		g.chr17:40001678C>A	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.985C>A	17.37:g.40001678C>A	ENSP00000293303:p.Arg329Ser						p.R329S	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			3	1138	+		Breast(137;0.000162)	329					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.985C>A	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424103	0.83667	.	.	ENSG00000161594	ENST00000293303	D	0.85629	-2.01	6.17	6.17	0.99709	Galactose oxidase, beta-propeller (1);	0.053379	0.64402	D	0.000001	D	0.95430	0.8516	H	0.98370	4.215	0.58432	D	0.999993	D;D	0.89917	0.999;1.0	D;D	0.75484	0.97;0.986	D	0.96414	0.9306	9	.	.	.	.	14.2995	0.66336	0.1485:0.8515:0.0:0.0	.	323;329	B4DXV2;Q6JEL2	.;KLH10_HUMAN	S	329	ENSP00000293303:R329S	.	R	+	1	0	KLHL10	37255204	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	2.471000	0.45127	2.941000	0.99782	0.655000	0.94253	CGT		0.493	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		3	54	1	0	0.004672	0.004672	0.00568765	3	54				
AMPD2	271	broad.mit.edu	37	1	110170763	110170763	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr1:110170763T>C	ENST00000256578.3	+	10	1661	c.1301T>C	c.(1300-1302)aTc>aCc	p.I434T	AMPD2_ENST00000528454.1_Missense_Mutation_p.I316T|AMPD2_ENST00000393688.3_Missense_Mutation_p.I315T|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Missense_Mutation_p.I353T|AMPD2_ENST00000528667.1_Missense_Mutation_p.I434T|AMPD2_ENST00000358729.4_Missense_Mutation_p.I359T	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	434					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGCGCTTCATCAAGCGGGCA	0.597																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(1300-1302)aTc>aCc		adenosine monophosphate deaminase 2							72.0	70.0	70.0					1																	110170763		2203	4300	6503	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110170763T>C	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1301T>C	1.37:g.110170763T>C	ENSP00000256578:p.Ile434Thr					AMPD2_ENST00000528667.1_Missense_Mutation_p.I434T|AMPD2_ENST00000528454.1_Missense_Mutation_p.I316T|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000393688.3_Missense_Mutation_p.I315T|AMPD2_ENST00000342115.4_Missense_Mutation_p.I353T|AMPD2_ENST00000358729.4_Missense_Mutation_p.I359T	p.I434T	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	10	1661	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	434					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.1301T>C	CCDS805.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.640635	0.87859	.	.	ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688	D;D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85;-2.85	5.04	5.04	0.67666	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.96262	0.8781	H	0.95079	3.62	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.97355	0.9966	10	0.87932	D	0	-34.7336	13.8948	0.63764	0.0:0.0:0.0:1.0	.	359;315;434;353	Q01433-4;Q01433-3;Q01433;Q01433-2	.;.;AMPD2_HUMAN;.	T	353;434;434;359;316;315	ENSP00000345498:I353T;ENSP00000436541:I434T;ENSP00000256578:I434T;ENSP00000351573:I359T;ENSP00000437164:I316T;ENSP00000377292:I315T	ENSP00000256578:I434T	I	+	2	0	AMPD2	109972286	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.792000	0.85828	2.128000	0.65567	0.459000	0.35465	ATC		0.597	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			4	20	0	0	0	0.009096	0	4	20				
SPINK9	643394	broad.mit.edu	37	5	147716006	147716006	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr5:147716006C>T	ENST00000377906.1	+	2	132	c.77C>T	c.(76-78)aCg>aTg	p.T26M	RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000511717.2_Missense_Mutation_p.T47M	NM_001040433.1	NP_001035523.1	Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	26	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAAACAGACGAAACAGATG	0.303																																						ENST00000511717.2																			0				ovary(1)|urinary_tract(1)	2						c.(139-141)aCg>aTg		serine peptidase inhibitor, Kazal type 9							166.0	165.0	165.0					5																	147716006		2203	4300	6503	SO:0001583	missense	643394					extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr5:147716006C>T	AY396740	CCDS34269.1	5q33.1	2011-08-31				ENSG00000204909		"""Serine peptidase inhibitors, Kazal type"""	32951	protein-coding gene	gene with protein product		613511					Standard	NM_001040433		Approved		uc003lpe.1	Q5DT21		ENST00000377906.1:c.77C>T	5.37:g.147716006C>T	ENSP00000367139:p.Thr26Met					RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000377906.1_Missense_Mutation_p.T26M	p.T47M			Q5DT21	ISK9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	410	+			26			Kazal-like.		B2RPN9	Missense_Mutation	SNP	ENST00000377906.1	37	c.140C>T	CCDS34269.1	.	.	.	.	.	.	.	.	.	.	C	5.494	0.276225	0.10403	.	.	ENSG00000204909	ENST00000511717;ENST00000377906	T;T	0.61040	0.14;0.34	2.87	-0.562	0.11781	.	10.985800	0.00166	N	0.000006	T	0.44726	0.1307	.	.	.	0.09310	N	1	D	0.62365	0.991	B	0.42625	0.393	T	0.35325	-0.9793	9	0.34782	T	0.22	0.0357	3.2232	0.06723	0.3243:0.2577:0.418:0.0	.	26	Q5DT21	ISK9_HUMAN	M	47;26	ENSP00000427240:T47M;ENSP00000367139:T26M	ENSP00000367139:T26M	T	+	2	0	SPINK9	147696199	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-1.142000	0.03203	-0.137000	0.11455	-1.058000	0.02302	ACG		0.303	SPINK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373382.1	NM_001040433		24	88	0	0	0	0.030593	0	24	88				
CROCCP2	84809	broad.mit.edu	37	1	16946437	16946437	+	lincRNA	SNP	C	C	T	rs2262202	byFrequency	TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr1:16946437C>T	ENST00000412962.1	-	0	1082				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCCTTCCGCCGGGCCAGCAG	0.672													.|||	800	0.159744	0.1067	0.1571	5008	,	,		61077	0.2659		0.1511	False		,,,				2504	0.1329					ENST00000412962.1																			0																																																			0							g.chr1:16946437C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946437C>T														0	1082	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	17	0	0	0	0.009096	0	3	17				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		18	41	0	0	0	0.038395	0	18	41				
TMEM176B	28959	broad.mit.edu	37	7	150493471	150493471	+	Missense_Mutation	SNP	C	C	T	rs141592438		TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr7:150493471C>T	ENST00000447204.2	-	2	559	c.187G>A	c.(187-189)Gag>Aag	p.E63K	TMEM176B_ENST00000429904.2_Missense_Mutation_p.E63K|TMEM176B_ENST00000492607.1_Missense_Mutation_p.E63K|TMEM176B_ENST00000450753.2_Missense_Mutation_p.E63K|TMEM176B_ENST00000326442.5_Missense_Mutation_p.E63K|TMEM176B_ENST00000434545.1_Missense_Mutation_p.E63K	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	63					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.E63Q(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCAGCTGCTCATAACCAATC	0.498																																						ENST00000447204.2																			1	Substitution - Missense(1)	p.E63Q(1)	cervix(1)	cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19						c.(187-189)Gag>Aag		transmembrane protein 176B							57.0	57.0	57.0					7																	150493471		2203	4300	6503	SO:0001583	missense	28959				cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		g.chr7:150493471C>T	AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.187G>A	7.37:g.150493471C>T	ENSP00000410269:p.Glu63Lys					TMEM176B_ENST00000450753.2_Missense_Mutation_p.E63K|TMEM176B_ENST00000434545.1_Missense_Mutation_p.E63K|TMEM176B_ENST00000492607.1_Missense_Mutation_p.E63K|TMEM176B_ENST00000429904.2_Missense_Mutation_p.E63K|TMEM176B_ENST00000326442.5_Missense_Mutation_p.E63K	p.E63K	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	559	-			63					B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	ENST00000447204.2	37	c.187G>A	CCDS5908.1	.	.	.	.	.	.	.	.	.	.	C	1.993	-0.431417	0.04669	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.08008	3.29;3.29;3.29;3.29;3.29;3.14	4.92	1.04	0.20106	.	1.227770	0.06259	N	0.693596	T	0.03011	0.0089	N	0.02011	-0.69	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.14578	0.011;0.002	T	0.42327	-0.9458	10	0.07325	T	0.83	-1.6786	7.4458	0.27211	0.0:0.6258:0.0:0.3742	.	63;63	E9PAV4;Q3YBM2	.;T176B_HUMAN	K	63	ENSP00000419258:E63K;ENSP00000318409:E63K;ENSP00000410269:E63K;ENSP00000413531:E63K;ENSP00000397810:E63K;ENSP00000404831:E63K	ENSP00000318409:E63K	E	-	1	0	TMEM176B	150124404	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	0.021000	0.13489	0.142000	0.18901	-0.444000	0.05651	GAG		0.498	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		21	36	0	0	0	0.055883	0	21	36				
FRMPD3	84443	broad.mit.edu	37	X	106840699	106840699	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chrX:106840699C>A	ENST00000276185.4	+	15	1689	c.1689C>A	c.(1687-1689)taC>taA	p.Y563*				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	563						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GCTTCTGCTACCTCCATATGC	0.567																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(1687-1689)taC>taA		FERM and PDZ domain containing 3							74.0	72.0	72.0					X																	106840699		876	1991	2867	SO:0001587	stop_gained	84443					cytoskeleton		g.chrX:106840699C>A	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.1689C>A	X.37:g.106840699C>A	ENSP00000276185:p.Tyr563*						p.Y563*			Q5JV73	FRPD3_HUMAN			15	1689	+			563					Q96JK8	Nonsense_Mutation	SNP	ENST00000276185.4	37	c.1689C>A		.	.	.	.	.	.	.	.	.	.	C	36	5.756295	0.96898	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	.	.	.	4.93	4.93	0.64822	.	0.064498	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2054	0.82126	0.0:1.0:0.0:0.0	.	.	.	.	X	563;511	.	ENSP00000276185:Y563X	Y	+	3	2	FRMPD3	106727355	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.491000	0.35583	2.283000	0.76528	0.436000	0.28706	TAC		0.567	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		19	50	1	0	8.34094e-07	0.049695	1.11212e-06	19	50				
RIC1	57589	broad.mit.edu	37	9	5765543	5765543	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr9:5765543G>A	ENST00000414202.2	+	20	3162	c.2971G>A	c.(2971-2973)Gag>Aag	p.E991K	KIAA1432_ENST00000418622.3_Missense_Mutation_p.E912K|KIAA1432_ENST00000449720.2_Missense_Mutation_p.E875K|KIAA1432_ENST00000251879.6_Missense_Mutation_p.E991K|KIAA1432_ENST00000381532.2_Missense_Mutation_p.E912K	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGGAGAATCTGAGACACCTCC	0.458																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(2971-2973)Gag>Aag		KIAA1432							196.0	187.0	190.0					9																	5765543		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5765543G>A																												ENST00000414202.2:c.2971G>A	9.37:g.5765543G>A	ENSP00000416696:p.Glu991Lys					KIAA1432_ENST00000381532.2_Missense_Mutation_p.E912K|KIAA1432_ENST00000449720.2_Missense_Mutation_p.E875K|KIAA1432_ENST00000251879.6_Missense_Mutation_p.E991K|KIAA1432_ENST00000418622.3_Missense_Mutation_p.E912K	p.E991K	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	20	3162	+		Acute lymphoblastic leukemia(23;0.154)	991						Missense_Mutation	SNP	ENST00000414202.2	37	c.2971G>A	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281791	0.80692	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.	.	.	5.92	5.92	0.95590	Ribosome control protein 1 (1);	0.137507	0.64402	D	0.000004	T	0.62380	0.2423	L	0.36672	1.1	0.80722	D	1	P;B;B;P	0.36354	0.549;0.123;0.123;0.493	B;B;B;B	0.43413	0.419;0.048;0.122;0.124	T	0.55692	-0.8101	9	0.29301	T	0.29	-19.4455	20.3151	0.98650	0.0:0.0:1.0:0.0	.	875;912;991;991	B7ZM67;B2RN24;Q4ADV7;G5E932	.;.;RIC1_HUMAN;.	K	991;991;912;912;875	.	ENSP00000251879:E991K	E	+	1	0	KIAA1432	5755543	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	9.476000	0.97823	2.809000	0.96659	0.467000	0.42956	GAG		0.458	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			17	168	0	0	0	0.038395	0	17	168				
VNN2	8875	broad.mit.edu	37	6	133070907	133070907	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr6:133070907C>T	ENST00000326499.6	-	6	1422	c.1298G>A	c.(1297-1299)gGc>gAc	p.G433D	VNN2_ENST00000525270.1_Missense_Mutation_p.G380D|VNN2_ENST00000525289.1_Missense_Mutation_p.G212D|RP1-55C23.7_ENST00000430895.1_RNA	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	433					cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TCCAAATGTGCCACTGAGGGA	0.393																																						ENST00000326499.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1297-1299)gGc>gAc		vanin 2							101.0	89.0	93.0					6																	133070907		2203	4300	6503	SO:0001583	missense	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133070907C>T	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.1298G>A	6.37:g.133070907C>T	ENSP00000322276:p.Gly433Asp					VNN2_ENST00000525289.1_Missense_Mutation_p.G212D|VNN2_ENST00000525270.1_Missense_Mutation_p.G380D	p.G433D	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	6	1422	-			433					A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	c.1298G>A	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115359	0.77323	.	.	ENSG00000112303	ENST00000326499;ENST00000525270;ENST00000525289	D;D;D	0.93547	-3.24;-3.24;-3.24	5.29	4.41	0.53225	.	0.000000	0.64402	D	0.000006	D	0.95230	0.8453	M	0.80508	2.5	0.23542	N	0.997455	D;D	0.89917	1.0;1.0	D;D	0.87578	0.981;0.998	D	0.90895	0.4764	10	0.87932	D	0	-9.4162	13.2254	0.59912	0.0:0.9205:0.0:0.0795	.	212;433	O95498-2;O95498	.;VNN2_HUMAN	D	433;380;212	ENSP00000322276:G433D;ENSP00000436822:G380D;ENSP00000436935:G212D	ENSP00000322276:G433D	G	-	2	0	VNN2	133112600	0.998000	0.40836	0.993000	0.49108	0.972000	0.66771	3.400000	0.52594	1.205000	0.43262	0.655000	0.94253	GGC		0.393	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			3	40	0	0	0	0.009096	0	3	40				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	56	0	0	0	0.004672	0	3	56				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	66	0	0	0	0.004672	0	3	66				
KCTD16	57528	broad.mit.edu	37	5	143853530	143853531	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr5:143853530_143853531insA	ENST00000507359.3	+	3	2231_2232	c.1140_1141insA	c.(1141-1143)aaafs	p.K381fs	KCTD16_ENST00000512467.1_Frame_Shift_Ins_p.K381fs	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	381					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ACATGAGCAGCAAAAAAAAAGC	0.465																																						ENST00000507359.2																			0				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21						c.(1138-1143)agaaaafs		potassium channel tetramerization domain containing 16																																				SO:0001589	frameshift_variant	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143853530_143853531insA	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.1149dupA	5.37:g.143853539_143853539dupA	ENSP00000426548:p.Lys381fs					KCTD16_ENST00000512467.1_Frame_Shift_Ins_p.RK380fs	p.RK380fs	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		3	2231_2232	+		all_hematologic(541;0.118)	380					Q9P2M9	Frame_Shift_Ins	INS	ENST00000507359.3	37	c.1140_1141insA	CCDS34260.1																																																																																				0.465	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		7	105						7	105	---	---	---	---
RP11-179A10.1	0	broad.mit.edu	37	11	11158593	11158593	+	lincRNA	DEL	A	A	-			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr11:11158593delA	ENST00000525758.1	+	0	108																											aaaaaaaaagaaaaaaaaata	0.388																																						ENST00000525758.1																			0																																																			0							g.chr11:11158593delA																													11.37:g.11158593delA														0	108	+									RNA	DEL	ENST00000525758.1	37																																																																																						0.388	RP11-179A10.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000386930.1			3	4						3	4	---	---	---	---
CORO1B	57175	broad.mit.edu	37	11	67206198	67206199	+	Frame_Shift_Ins	INS	-	-	G	rs574741792|rs141781443	byFrequency	TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr11:67206198_67206199insG	ENST00000341356.5	-	10	1397_1398	c.1287_1288insC	c.(1285-1290)cccgccfs	p.A430fs	PTPRCAP_ENST00000326294.3_5'Flank|CORO1B_ENST00000393893.1_Frame_Shift_Ins_p.A430fs|CORO1B_ENST00000539724.1_5'UTR	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	430					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GTGGTGGAGGCGGGGGCCCCTA	0.718																																						ENST00000393893.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(1285-1290)cccctcfs		coronin, actin binding protein, 1B																																				SO:0001589	frameshift_variant	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67206198_67206199insG	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.1288dupC	11.37:g.67206203_67206203dupG	ENSP00000340211:p.Ala430fs					CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000341356.5_Frame_Shift_Ins_p.L430fs	p.L430fs	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		11	1390_1391	-			430					B2RD45	Frame_Shift_Ins	INS	ENST00000341356.5	37	c.1287_1288insC	CCDS8164.1																																																																																				0.718	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		4	4						4	4	---	---	---	---
ABCA17P	650655	broad.mit.edu	37	16	2475097	2475098	+	RNA	DEL	TC	TC	-	rs372790950|rs372517981		TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr16:2475097_2475098delTC	ENST00000469908.1	+	0	3047					NR_003574.1				ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene																		GGTAActctgtctctctctctc	0.559																																						ENST00000469908.1																			0																																																			0							g.chr16:2475097_2475098delTC	DQ266102		16p13.3	2012-03-14	2010-03-12		ENSG00000238098	ENSG00000238098		"""ATP binding cassette transporters / subfamily A"""	32972	pseudogene	pseudogene						16968533	Standard	NR_003574		Approved		uc002cqc.1		OTTHUMG00000154348		16.37:g.2475107_2475108delTC								NR_003574.1						0	3047	+									RNA	DEL	ENST00000469908.1	37																																																																																						0.559	ABCA17P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000334904.1	NR_003574		2	4						2	4	---	---	---	---
SMG1P3	100271836	broad.mit.edu	37	16	21469994	21469994	+	RNA	DEL	A	A	-			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr16:21469994delA	ENST00000520823.2	-	0	749				snoU13_ENST00000459321.1_RNA																							ACTGTACATTAAAAAAAAAAA	0.294																																						ENST00000520823.2																			0																																																			0							g.chr16:21469994delA																													16.37:g.21469994delA														0	749	-									RNA	DEL	ENST00000520823.2	37																																																																																						0.294	CTD-2547E10.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000378302.2			2	4						2	4	---	---	---	---
CTB-134H23.3	0	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120	byFrequency	TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr16:29113498delT	ENST00000562618.1	-	0	1840				RRN3P2_ENST00000564580.1_RNA																							AGGAGGTGGAttttttttttc	0.542													|||unknown(NO_COVERAGE)	2145	0.428315	0.5507	0.4856	5008	,	,		13214	0.248		0.4334	False		,,,				2504	0.4029					ENST00000564580.1																			0																																																			0							g.chr16:29113498delT																													16.37:g.29113498delT														0	1360	+									RNA	DEL	ENST00000562618.1	37																																																																																						0.542	CTB-134H23.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433241.1			4	2						4	2	---	---	---	---
RP11-51O6.1	0	broad.mit.edu	37	16	61089303	61089303	+	RNA	DEL	T	T	-	rs567241949|rs201948984|rs56076856|rs572952892	byFrequency	TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr16:61089303delT	ENST00000591758.1	-	0	565																											Cttcttcttcttttttttttt	0.244													|||unknown(HR)	3221	0.643171	0.7216	0.6729	5008	,	,		12287	0.7063		0.5507	False		,,,				2504	0.546					ENST00000591758.1																			0																																																			0							g.chr16:61089303delT																													16.37:g.61089303delT														0	565	-									RNA	DEL	ENST00000591758.1	37																																																																																						0.244	RP11-51O6.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000460612.1			4	8						4	8	---	---	---	---
