#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
PPP1R3F	89801	broad.mit.edu	37	X	49127085	49127085	+	Silent	SNP	G	G	A			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chrX:49127085G>A	ENST00000055335.6	+	1	769	c.753G>A	c.(751-753)gaG>gaA	p.E251E	PPP1R3F_ENST00000466508.1_5'UTR|LL0XNC01-7P3.1_ENST00000602455.1_lincRNA|PPP1R3F_ENST00000438316.1_5'UTR|PPP1R3F_ENST00000495799.1_Intron	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	251	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CCTTTGCTGAGGGCGCGGGCG	0.701																																						ENST00000055335.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27						c.(751-753)gaG>gaA		protein phosphatase 1, regulatory subunit 3F							14.0	13.0	13.0					X																	49127085		2195	4274	6469	SO:0001819	synonymous_variant	89801					integral to membrane		g.chrX:49127085G>A		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.753G>A	X.37:g.49127085G>A						PPP1R3F_ENST00000495799.1_Intron|PPP1R3F_ENST00000466508.1_5'UTR|PPP1R3F_ENST00000438316.1_5'UTR	p.E251E	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN			1	769	+	Ovarian(276;0.236)		251			CBM21.		A2VDJ8|B3KPW2|E9PCM3	Silent	SNP	ENST00000055335.6	37	c.753G>A	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	g	9.672	1.146873	0.21288	.	.	ENSG00000049769	ENST00000471261	.	.	.	4.37	3.46	0.39613	.	.	.	.	.	T	0.48589	0.1508	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43669	-0.9377	4	.	.	.	-12.8282	4.9315	0.13919	0.116:0.0:0.6735:0.2105	.	.	.	.	K	1	.	.	R	+	2	0	PPP1R3F	49014029	0.627000	0.27129	1.000000	0.80357	0.993000	0.82548	1.451000	0.35145	1.741000	0.51731	0.509000	0.49947	AGG		0.701	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		3	28	0	0	0	1	0	3	28				
FPR1	2357	broad.mit.edu	37	19	52249646	52249646	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr19:52249646C>G	ENST00000595042.1	-	3	743	c.602G>C	c.(601-603)aGa>aCa	p.R201T	FPR1_ENST00000304748.4_Missense_Mutation_p.R201T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	201					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GATGATGCCTCTCACCGTCAA	0.507																																						ENST00000595042.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(601-603)aGa>aCa		formyl peptide receptor 1	Nedocromil(DB00716)						140.0	124.0	130.0					19																	52249646		2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249646C>G	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.602G>C	19.37:g.52249646C>G	ENSP00000471493:p.Arg201Thr					FPR1_ENST00000304748.4_Missense_Mutation_p.R201T	p.R201T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	743	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	201					Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.602G>C	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	2.143	-0.396372	0.04899	.	.	ENSG00000171051	ENST00000304748	T	0.37058	1.22	3.66	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	0.443316	0.18365	N	0.143451	T	0.24699	0.0599	L	0.39467	1.215	0.26505	N	0.974693	B	0.19073	0.033	B	0.25987	0.065	T	0.16217	-1.0410	10	0.21540	T	0.41	.	5.6428	0.17572	0.3913:0.4172:0.1915:0.0	.	201	P21462	FPR1_HUMAN	T	201	ENSP00000302707:R201T	ENSP00000302707:R201T	R	-	2	0	FPR1	56941458	0.136000	0.22515	0.598000	0.28837	0.090000	0.18270	0.898000	0.28404	0.769000	0.33313	0.655000	0.94253	AGA		0.507	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		6	90	0	0	0	1	0	6	90				
GPSM3	63940	broad.mit.edu	37	6	32159644	32159644	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr6:32159644C>T	ENST00000375040.3	-	3	579	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	GPSM3_ENST00000375043.3_Missense_Mutation_p.E63K|GPSM3_ENST00000487761.1_Missense_Mutation_p.E60K|PBX2_ENST00000375050.4_5'Flank	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	63	GoLoco 1. {ECO:0000255|PROSITE- ProRule:PRU00097}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cytoplasm (GO:0005737)	GDP-dissociation inhibitor activity (GO:0005092)			large_intestine(1)	1						AGAAGGAGTTCAGTCTGCAGG	0.672																																						ENST00000375040.3																			0				large_intestine(1)	1						c.(187-189)Gaa>Aaa		G-protein signaling modulator 3							34.0	44.0	41.0					6																	32159644		1507	2707	4214	SO:0001583	missense	63940				signal transduction	cytoplasm	GTPase activator activity|protein binding	g.chr6:32159644C>T	AF155657	CCDS34419.1	6p21.3	2010-06-24	2010-06-24	2004-02-04	ENSG00000213654	ENSG00000213654			13945	protein-coding gene	gene with protein product	"""activator of G-protein signaling 4"""		"""chromosome 6 open reading frame 9"", ""G-protein signalling modulator 3 (AGS3-like, C. elegans)"""	C6orf9		2259622, 15096500	Standard	NM_022107		Approved	NG1, G18, G18.1a, G18.1b, G18.2, AGS4	uc003oaz.3	Q9Y4H4	OTTHUMG00000031244	ENST00000375040.3:c.187G>A	6.37:g.32159644C>T	ENSP00000364180:p.Glu63Lys					GPSM3_ENST00000375043.3_Missense_Mutation_p.E63K|GPSM3_ENST00000487761.1_Missense_Mutation_p.E60K	p.E63K	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN			3	579	-			63			GoLoco 1.		A2BFJ3	Missense_Mutation	SNP	ENST00000375040.3	37	c.187G>A	CCDS34419.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214988	0.79352	.	.	ENSG00000213654	ENST00000487761;ENST00000375040;ENST00000375043	.	.	.	4.19	4.19	0.49359	GoLoco motif (3);	0.000000	0.64402	U	0.000015	T	0.53674	0.1811	L	0.27053	0.805	0.45477	D	0.998445	D;D	0.69078	0.997;0.997	D;D	0.77004	0.989;0.989	T	0.60984	-0.7154	9	0.72032	D	0.01	-17.9208	11.8856	0.52600	0.0:1.0:0.0:0.0	.	63;63	Q9Y4H4;A2BFJ3	GPSM3_HUMAN;.	K	60;63;63	.	ENSP00000364180:E63K	E	-	1	0	GPSM3	32267622	0.973000	0.33851	0.989000	0.46669	0.928000	0.56348	3.635000	0.54309	2.176000	0.68965	0.305000	0.20034	GAA		0.672	GPSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076509.1	NM_022107		4	60	0	0	0	1	0	4	60				
DOCK8	81704	broad.mit.edu	37	9	406991	406991	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr9:406991C>T	ENST00000453981.1	+	28	3564	c.3452C>T	c.(3451-3453)tCc>tTc	p.S1151F	DOCK8_ENST00000432829.2_Missense_Mutation_p.S1083F|DOCK8_ENST00000382329.1_Missense_Mutation_p.S618F|DOCK8_ENST00000469391.1_Missense_Mutation_p.S1051F			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1151					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GATCTGACTTCCGAGTACCGC	0.522																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(3247-3249)tCc>tTc		dedicator of cytokinesis 8							103.0	99.0	100.0					9																	406991		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:406991C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3452C>T	9.37:g.406991C>T	ENSP00000408464:p.Ser1151Phe					DOCK8_ENST00000453981.1_Missense_Mutation_p.S1151F|DOCK8_ENST00000469391.1_Missense_Mutation_p.S1051F|DOCK8_ENST00000382329.1_Missense_Mutation_p.S618F	p.S1083F	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	28	3564	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1151					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.3248C>T	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476711	0.44044	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.62	5.62	0.85841	.	0.370945	0.34245	N	0.004135	T	0.26919	0.0659	L	0.29908	0.895	0.19300	N	0.999974	B;B;B	0.20164	0.012;0.042;0.012	B;B;B	0.29716	0.066;0.106;0.066	T	0.23404	-1.0189	10	0.56958	D	0.05	.	20.0246	0.97519	0.0:1.0:0.0:0.0	.	1051;618;1151	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	F	1151;1119;1083;1051;618	ENSP00000408464:S1151F;ENSP00000394888:S1083F;ENSP00000419438:S1051F;ENSP00000371766:S618F	ENSP00000287364:S1119F	S	+	2	0	DOCK8	396991	0.075000	0.21258	0.068000	0.19968	0.816000	0.46133	3.722000	0.54948	2.810000	0.96702	0.650000	0.86243	TCC		0.522	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		7	120	0	0	0	1	0	7	120				
PLCB4	5332	broad.mit.edu	37	20	9449316	9449316	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr20:9449316A>G	ENST00000378493.1	+	32	3326	c.3311A>G	c.(3310-3312)gAa>gGa	p.E1104G	PLCB4_ENST00000278655.4_Missense_Mutation_p.E1104G|PLCB4_ENST00000334005.3_Missense_Mutation_p.E1104G|PLCB4_ENST00000414679.2_Missense_Mutation_p.E1116G|PLCB4_ENST00000378473.3_Missense_Mutation_p.E1116G|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.E1104G			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1104					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GCAGAACGGGAAAGGTAAGTC	0.423																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(3310-3312)gAa>gGa		phospholipase C, beta 4							109.0	98.0	102.0					20																	9449316		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9449316A>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3311A>G	20.37:g.9449316A>G	ENSP00000367754:p.Glu1104Gly					PLCB4_ENST00000278655.4_Missense_Mutation_p.E1104G|PLCB4_ENST00000378473.3_Missense_Mutation_p.E1116G|PLCB4_ENST00000414679.2_Missense_Mutation_p.E1116G|PLCB4_ENST00000378493.1_Missense_Mutation_p.E1104G|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.E1104G	p.E1104G	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			32	3326	+			1104					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.3311A>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.721868	0.89298	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	L	0.58101	1.795	0.80722	D	1	P;D;D;B	0.63880	0.907;0.993;0.982;0.081	P;P;P;B	0.56960	0.663;0.81;0.533;0.056	T	0.68345	-0.5433	10	0.72032	D	0.01	.	16.0539	0.80782	1.0:0.0:0.0:0.0	.	1116;951;1104;1104	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	G	1104;1116;1104;1104;1104;952	ENSP00000334105:E1104G;ENSP00000367734:E1116G;ENSP00000278655:E1104G;ENSP00000367754:E1104G;ENSP00000367762:E1104G;ENSP00000390616:E952G	ENSP00000278655:E1104G	E	+	2	0	PLCB4	9397316	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.564000	0.90726	2.193000	0.70182	0.533000	0.62120	GAA		0.423	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			16	52	0	0	0	1	0	16	52				
PCDHB17	54661	broad.mit.edu	37	5	140537004	140537004	+	Silent	SNP	C	C	T	rs246697	byFrequency	TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr5:140537004C>T	ENST00000539533.1	+	1	1428	c.1428C>T	c.(1426-1428)gcC>gcT	p.A476A						protocadherin beta 17 pseudogene																		GTGTCAGCGCCACAGACAGAG	0.642													C|||	1108	0.221246	0.4803	0.2406	5008	,	,		16144	0.0407		0.169	False		,,,				2504	0.0971					ENST00000539533.1																			0											c.(1426-1428)gcC>gcT																																						SO:0001819	synonymous_variant	0							g.chr5:140537004C>T	AF152527		5q31	2010-01-26				ENSG00000255622		"""Cadherins / Protocadherins : Clustered"""	14547	pseudogene	pseudogene						10380929	Standard	NR_001280		Approved	PCDH-psi1	uc003lis.3			ENST00000539533.1:c.1428C>T	5.37:g.140537004C>T							p.A476A							1	1428	+									Silent	SNP	ENST00000539533.1	37	c.1428C>T																																																																																					0.642	PCDHB17-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				8	195	0	0	0	1	0	8	195				
RASAL1	8437	broad.mit.edu	37	12	113553841	113553842	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr12:113553841_113553842GG>AA	ENST00000261729.5	-	10	1061_1062	c.746_747CC>TT	c.(745-747)gCC>gTT	p.A249V	RASAL1_ENST00000548055.1_Missense_Mutation_p.A249V|RASAL1_ENST00000546530.1_Missense_Mutation_p.A249V|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.A249V			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	249					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCACTCGCAGGGCACCCAGGTT	0.579																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(745-747)gcC>gcT|c.(745-747)gCc>gTc		RAS protein activator like 1 (GAP1 like)																																				SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113553841G>A|g.chr12:113553842G>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.746_747delinsAA	12.37:g.113553841_113553842delinsAA	ENSP00000261729:p.Ala249Val					RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Silent_p.A249A|RASAL1_ENST00000261729.5_Silent_p.A249A|RASAL1_ENST00000446861.3_Silent_p.A249A|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.A249V|RASAL1_ENST00000261729.5_Missense_Mutation_p.A249V|RASAL1_ENST00000446861.3_Missense_Mutation_p.A249V	p.A249A|p.A249V	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			10	1032|1031	-			249					B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Silent|Missense_Mutation	SNP	ENST00000261729.5	37	c.747C>T|c.746C>T	CCDS9165.1																																																																																				0.579	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		4	58|57	0	0	0	1	0	4	57				
TENM1	10178	broad.mit.edu	37	X	123630900	123630900	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chrX:123630900G>A	ENST00000371130.3	-	20	3724	c.3661C>T	c.(3661-3663)Ccc>Tcc	p.P1221S	TENM1_ENST00000422452.2_Missense_Mutation_p.P1221S|TENM1_ENST00000461429.1_5'UTR	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1221					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTTCCCGAGGGAAATATTCTC	0.398																																						ENST00000422452.2																			0											c.(3661-3663)Ccc>Tcc		teneurin transmembrane protein 1							67.0	68.0	68.0					X																	123630900		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123630900G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3661C>T	X.37:g.123630900G>A	ENSP00000360171:p.Pro1221Ser					TENM1_ENST00000371130.3_Missense_Mutation_p.P1221S|TENM1_ENST00000461429.1_5'UTR	p.P1221S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					20	3724	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.3661C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790313	0.50102	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90955	-2.76;-2.17	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);	0.059445	0.64402	D	0.000002	D	0.88720	0.6513	L	0.45051	1.395	0.80722	D	1	P;B;P	0.35745	0.518;0.376;0.485	B;B;B	0.36666	0.129;0.073;0.23	D	0.88867	0.3330	10	0.66056	D	0.02	.	18.7655	0.91871	0.0:0.0:1.0:0.0	.	1220;1221;1221	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	1221	ENSP00000360171:P1221S;ENSP00000403954:P1221S	ENSP00000360171:P1221S	P	-	1	0	ODZ1	123458581	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.392000	0.73213	2.376000	0.81061	0.600000	0.82982	CCC		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		4	60	0	0	0	1	0	4	60				
TCP11L2	255394	broad.mit.edu	37	12	106734726	106734726	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr12:106734726G>A	ENST00000299045.3	+	9	1439	c.1265G>A	c.(1264-1266)gGt>gAt	p.G422D		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	422										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						AATCTTATAGGTCAATTTTCA	0.373																																						ENST00000299045.3																			0				endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						c.(1264-1266)gGt>gAt		t-complex 11, testis-specific-like 2							181.0	176.0	178.0					12																	106734726		2203	4300	6503	SO:0001583	missense	255394							g.chr12:106734726G>A	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.1265G>A	12.37:g.106734726G>A	ENSP00000299045:p.Gly422Asp						p.G422D	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN			9	1439	+			422					B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	c.1265G>A	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280184	0.80692	.	.	ENSG00000166046	ENST00000299045	T	0.12774	2.65	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.40815	0.1132	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12116	-1.0560	10	0.36615	T	0.2	-0.0368	19.0691	0.93125	0.0:0.0:1.0:0.0	.	422	Q8N4U5	T11L2_HUMAN	D	422	ENSP00000299045:G422D	ENSP00000299045:G422D	G	+	2	0	TCP11L2	105258856	1.000000	0.71417	0.987000	0.45799	0.865000	0.49528	7.159000	0.77483	2.490000	0.84030	0.557000	0.71058	GGT		0.373	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		9	126	0	0	0	1	0	9	126				
CHAF1B	8208	broad.mit.edu	37	21	37785504	37785504	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr21:37785504G>A	ENST00000314103.5	+	12	1535	c.1384G>A	c.(1384-1386)Ggg>Agg	p.G462R		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	462					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CCCCTTGCCGGGGCCTTCGGA	0.627																																						ENST00000314103.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						c.(1384-1386)Ggg>Agg		chromatin assembly factor 1, subunit B (p60)							28.0	29.0	29.0					21																	37785504		2203	4300	6503	SO:0001583	missense	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37785504G>A	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.1384G>A	21.37:g.37785504G>A	ENSP00000315700:p.Gly462Arg						p.G462R	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN			12	1535	+			462					Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	c.1384G>A	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	G	2.892	-0.229445	0.06022	.	.	ENSG00000159259	ENST00000314103	T	0.41758	0.99	4.98	1.97	0.26223	.	1.292330	0.04923	N	0.455331	T	0.25568	0.0622	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19353	-1.0308	10	0.17369	T	0.5	-4.4581	3.4416	0.07465	0.0949:0.444:0.2564:0.2047	.	462	Q13112	CAF1B_HUMAN	R	462	ENSP00000315700:G462R	ENSP00000315700:G462R	G	+	1	0	CHAF1B	36707374	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.120000	0.15647	0.469000	0.27268	0.558000	0.71614	GGG		0.627	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		4	31	0	0	0	1	0	4	31				
TLR8	51311	broad.mit.edu	37	X	12940129	12940129	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chrX:12940129G>C	ENST00000218032.6	+	2	3057	c.2970G>C	c.(2968-2970)ttG>ttC	p.L990F	TLR8_ENST00000311912.5_Missense_Mutation_p.L1008F	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	990	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	CTCAGTATTTGAGGCTACGGC	0.463																																						ENST00000218032.6																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2968-2970)ttG>ttC		toll-like receptor 8							102.0	97.0	99.0					X																	12940129		2203	4300	6503	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12940129G>C	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2970G>C	X.37:g.12940129G>C	ENSP00000218032:p.Leu990Phe					TLR8_ENST00000311912.5_Missense_Mutation_p.L1008F	p.L990F	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN			2	3057	+			990			TIR.		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.2970G>C	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272316	0.40194	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.08807	3.05;3.05	5.7	4.83	0.62350	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.000000	0.30989	N	0.008462	T	0.22666	0.0547	M	0.75615	2.305	0.39518	D	0.968477	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.988	T	0.04191	-1.0970	10	0.54805	T	0.06	.	3.8555	0.08973	0.0778:0.2524:0.4398:0.23	.	990;1008	Q9NR97;D1CS70	TLR8_HUMAN;.	F	990;1008	ENSP00000218032:L990F;ENSP00000312082:L1008F	ENSP00000218032:L990F	L	+	3	2	TLR8	12850050	0.762000	0.28451	0.925000	0.36789	0.788000	0.44548	0.775000	0.26689	1.170000	0.42753	0.600000	0.82982	TTG		0.463	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		6	113	0	0	0	1	0	6	113				
AKR1D1	6718	broad.mit.edu	37	7	137801382	137801382	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr7:137801382G>A	ENST00000242375.3	+	9	997	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Silent_p.*291*|AKR1D1_ENST00000411726.2_Missense_Mutation_p.E278K	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	319					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	CGATCATCCTGAATACCCATT	0.443																																						ENST00000242375.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(955-957)Gaa>Aaa		aldo-keto reductase family 1, member D1							140.0	138.0	139.0					7																	137801382		2203	4300	6503	SO:0001583	missense	6718				androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	g.chr7:137801382G>A	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.955G>A	7.37:g.137801382G>A	ENSP00000242375:p.Glu319Lys					AKR1D1_ENST00000411726.2_Missense_Mutation_p.E278K|AKR1D1_ENST00000432161.1_Silent_p.*291*|AKR1D1_ENST00000468877.2_3'UTR	p.E319K	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN			9	997	+			319					A1L4P6|A8K060|B4DPN3|B4DPN8	Missense_Mutation	SNP	ENST00000242375.3	37	c.955G>A	CCDS5846.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985988	0.53934	.	.	ENSG00000122787	ENST00000411726;ENST00000242375	T;T	0.50277	0.75;0.75	4.88	4.88	0.63580	NADP-dependent oxidoreductase domain (2);	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	.	.	.	0.58432	D	0.999998	D;B	0.58268	0.982;0.034	P;B	0.55303	0.773;0.026	T	0.57359	-0.7825	9	0.37606	T	0.19	.	15.561	0.76244	0.0:0.0:1.0:0.0	.	278;319	B4DPN8;P51857	.;AK1D1_HUMAN	K	278;319	ENSP00000402374:E278K;ENSP00000242375:E319K	ENSP00000242375:E319K	E	+	1	0	AKR1D1	137451922	1.000000	0.71417	0.995000	0.50966	0.076000	0.17211	8.394000	0.90185	2.539000	0.85634	0.655000	0.94253	GAA		0.443	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1	NM_005989		6	65	0	0	0	1	0	6	65				
DOCK8	81704	broad.mit.edu	37	9	406992	406992	+	Silent	SNP	C	C	T	rs373733736		TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr9:406992C>T	ENST00000453981.1	+	28	3565	c.3453C>T	c.(3451-3453)tcC>tcT	p.S1151S	DOCK8_ENST00000432829.2_Silent_p.S1083S|DOCK8_ENST00000382329.1_Silent_p.S618S|DOCK8_ENST00000469391.1_Silent_p.S1051S			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1151					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATCTGACTTCCGAGTACCGCC	0.527													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18042	0.0		0.0	False		,,,				2504	0.0					ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(3247-3249)tcC>tcT		dedicator of cytokinesis 8		C	,,	1,4405	2.1+/-5.4	0,1,2202	102.0	98.0	100.0		3153,3249,3453	-11.2	0.0	9		100	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	1051/2000,1083/2032,1151/2100	406992	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:406992C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3453C>T	9.37:g.406992C>T						DOCK8_ENST00000453981.1_Silent_p.S1151S|DOCK8_ENST00000469391.1_Silent_p.S1051S|DOCK8_ENST00000382329.1_Silent_p.S618S	p.S1083S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	28	3565	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1151					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.3249C>T	CCDS6440.2																																																																																				0.527	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		7	120	0	0	0	1	0	7	120				
NDUFA9	4704	broad.mit.edu	37	12	4771757	4771757	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr12:4771757C>T	ENST00000266544.5	+	6	631	c.611C>T	c.(610-612)tCg>tTg	p.S204L	RP11-500M8.7_ENST00000536588.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	204					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						GTAAAGCCGTCGGACATCTTT	0.388																																					Colon(75;996 1244 23946 25294 29232)	ENST00000266544.5																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(610-612)tCg>tTg		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	NADH(DB00157)						170.0	163.0	165.0					12																	4771757		2203	4300	6503	SO:0001583	missense	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4771757C>T	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.611C>T	12.37:g.4771757C>T	ENSP00000266544:p.Ser204Leu						p.S204L	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN			6	631	+			204					Q14076|Q2NKX0	Missense_Mutation	SNP	ENST00000266544.5	37	c.611C>T	CCDS8532.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717111	0.48622	.	.	ENSG00000139180	ENST00000266544	D	0.93906	-3.31	5.15	4.2	0.49525	NAD(P)-binding domain (1);	0.285278	0.40908	D	0.001000	D	0.96522	0.8865	H	0.96748	3.875	0.80722	D	1	P;P	0.52463	0.953;0.953	P;P	0.49829	0.623;0.623	D	0.97530	1.0079	10	0.72032	D	0.01	-13.715	14.3765	0.66881	0.0:0.851:0.149:0.0	.	204;204	A8K4V2;Q16795	.;NDUA9_HUMAN	L	204	ENSP00000266544:S204L	ENSP00000266544:S204L	S	+	2	0	NDUFA9	4642018	0.820000	0.29190	0.008000	0.14137	0.495000	0.33615	4.547000	0.60712	2.530000	0.85305	0.555000	0.69702	TCG		0.388	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		7	127	0	0	0	1	0	7	127				
AUTS2	26053	broad.mit.edu	37	7	70249984	70249984	+	Missense_Mutation	SNP	C	C	T	rs34479874		TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr7:70249984C>T	ENST00000342771.4	+	16	2524	c.2203C>T	c.(2203-2205)Ctc>Ttc	p.L735F	AUTS2_ENST00000406775.2_Missense_Mutation_p.L711F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	735										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CAGCAACTTCCTCAACCCTGC	0.517																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(2203-2205)Ctc>Ttc		autism susceptibility candidate 2							107.0	91.0	97.0					7																	70249984		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70249984C>T	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2203C>T	7.37:g.70249984C>T	ENSP00000344087:p.Leu735Phe					AUTS2_ENST00000406775.2_Missense_Mutation_p.L711F	p.L735F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	16	2524	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	735					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.2203C>T	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	C	34	5.294758	0.95546	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.53206	0.67;0.63	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.70124	0.3188	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.998	T	0.66913	-0.5803	9	.	.	.	-27.5929	20.3732	0.98896	0.0:1.0:0.0:0.0	.	187;711;735	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	F	711;735	ENSP00000385263:L711F;ENSP00000344087:L735F	.	L	+	1	0	AUTS2	69887920	1.000000	0.71417	0.990000	0.47175	0.985000	0.73830	6.986000	0.76200	2.809000	0.96659	0.650000	0.86243	CTC		0.517	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			4	59	0	0	0	1	0	4	59				
FAM78A	286336	broad.mit.edu	37	9	134136313	134136313	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr9:134136313G>A	ENST00000372271.3	-	2	1115	c.748C>T	c.(748-750)Ccg>Tcg	p.P250S	FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Missense_Mutation_p.P247S	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	250										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		GCGCTGGGCGGGATGGGCTCA	0.687																																						ENST00000372271.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(748-750)Ccg>Tcg		family with sequence similarity 78, member A							88.0	93.0	91.0					9																	134136313		2203	4300	6503	SO:0001583	missense	286336							g.chr9:134136313G>A	AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 59"""	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.748C>T	9.37:g.134136313G>A	ENSP00000361345:p.Pro250Ser					FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Missense_Mutation_p.P247S	p.P250S	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)	2	1115	-	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	250					Q86VQ9|Q9H7P4	Missense_Mutation	SNP	ENST00000372271.3	37	c.748C>T	CCDS6941.2	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682780	0.47991	.	.	ENSG00000126882	ENST00000372269;ENST00000372271;ENST00000464831	D;D;D	0.95342	-3.68;-3.68;-3.68	4.63	4.63	0.57726	.	0.049204	0.85682	D	0.000000	D	0.93612	0.7960	M	0.75777	2.31	0.80722	D	1	B;P	0.48503	0.291;0.911	B;B	0.39840	0.072;0.311	D	0.94848	0.8011	10	0.87932	D	0	-26.4943	16.8258	0.85930	0.0:0.0:1.0:0.0	.	250;247	Q5JUQ0;Q5JUQ2	FA78A_HUMAN;.	S	247;250;219	ENSP00000361343:P247S;ENSP00000361345:P250S;ENSP00000419959:P219S	ENSP00000361343:P247S	P	-	1	0	FAM78A	133126134	1.000000	0.71417	0.996000	0.52242	0.663000	0.39108	6.688000	0.74557	2.272000	0.75746	0.313000	0.20887	CCG		0.687	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387		6	116	0	0	0	1	0	6	116				
TUBB8	347688	broad.mit.edu	37	10	93798	93798	+	Silent	SNP	G	G	A	rs372550049		TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr10:93798G>A	ENST00000309812.4	-	4	596	c.534C>T	c.(532-534)acC>acT	p.T178T	TUBB8_ENST00000447903.2_Silent_p.T106T|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_3'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	178					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GCTCCACCACGGTGTCCGACA	0.522													g|||	1	0.000199681	0.0008	0.0	5008	,	,		28480	0.0		0.0	False		,,,				2504	0.0				Pancreas(192;2041 3010 9013 18103)	ENST00000447903.2																			0				NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32						c.(316-318)acC>acT		tubulin, beta 8 class VIII							105.0	94.0	98.0					10																	93798		2203	4293	6496	SO:0001819	synonymous_variant	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93798G>A	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.534C>T	10.37:g.93798G>A						TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Silent_p.T178T	p.T106T			Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	633	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	178					Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	c.318C>T	CCDS7051.1																																																																																				0.522	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		16	113	0	0	0	1	0	16	113				
RLIM	51132	broad.mit.edu	37	X	73812337	73812337	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chrX:73812337C>G	ENST00000332687.6	-	4	1031	c.813G>C	c.(811-813)ttG>ttC	p.L271F	RLIM_ENST00000349225.2_Missense_Mutation_p.L271F	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	271					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTGCTGCCTCAATGTCACAT	0.453																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(811-813)ttG>ttC		ring finger protein, LIM domain interacting							88.0	81.0	83.0					X																	73812337		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73812337C>G	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.813G>C	X.37:g.73812337C>G	ENSP00000328059:p.Leu271Phe					RLIM_ENST00000349225.2_Missense_Mutation_p.L271F	p.L271F	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1031	-			271					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.813G>C	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	C	7.828	0.719204	0.15372	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.08896	3.04;3.04	5.79	3.08	0.35506	.	0.229654	0.38005	N	0.001850	T	0.07143	0.0181	L	0.55481	1.735	0.35268	D	0.780171	P	0.45902	0.868	B	0.39876	0.312	T	0.42413	-0.9453	10	0.16896	T	0.51	-0.0788	4.8873	0.13710	0.0:0.4691:0.1438:0.3871	.	271	Q9NVW2	RNF12_HUMAN	F	271	ENSP00000328059:L271F;ENSP00000253571:L271F	ENSP00000328059:L271F	L	-	3	2	RLIM	73729062	0.937000	0.31787	0.993000	0.49108	0.986000	0.74619	-0.003000	0.12901	0.218000	0.20820	0.600000	0.82982	TTG		0.453	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		8	117	0	0	0	1	0	8	117				
LOC150776	150776	broad.mit.edu	37	2	132258593	132258593	+	RNA	SNP	A	A	G	rs13415770	byFrequency	TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr2:132258593A>G	ENST00000438378.2	+	0	777					NR_026922.1																						CTGTACCACAACAAGGTCCAG	0.617													.|||	1503	0.30012	0.0189	0.4092	5008	,	,		19153	0.6796		0.2157	False		,,,				2504	0.2986					ENST00000438378.2																			0																																																			0							g.chr2:132258593A>G																													2.37:g.132258593A>G								NR_026922.1						0	777	+									RNA	SNP	ENST00000438378.2	37																																																																																						0.617	AC093838.4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331819.7			3	23	0	0	0	1	0	3	23				
FAM98C	147965	broad.mit.edu	37	19	38896057	38896057	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr19:38896057G>C	ENST00000252530.5	+	5	648	c.629G>C	c.(628-630)aGa>aCa	p.R210T	FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	210										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GATGCACCCAGATGGGTAAGA	0.572																																						ENST00000252530.5																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(628-630)aGa>aCa		family with sequence similarity 98, member C							86.0	86.0	86.0					19																	38896057		2135	4253	6388	SO:0001583	missense	147965							g.chr19:38896057G>C		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.629G>C	19.37:g.38896057G>C	ENSP00000252530:p.Arg210Thr					FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Intron	p.R210T	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		5	648	+	all_cancers(60;3.95e-06)		210					A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	c.629G>C	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211272	0.58343	.	.	ENSG00000130244	ENST00000252530	T	0.42513	0.97	4.9	4.9	0.64082	.	0.144282	0.31246	N	0.007993	T	0.42653	0.1212	M	0.70595	2.14	0.80722	D	1	P	0.34934	0.476	B	0.33196	0.159	T	0.41893	-0.9483	10	0.39692	T	0.17	3.9306	13.6443	0.62272	0.0:0.0:1.0:0.0	.	210	Q17RN3	FA98C_HUMAN	T	210	ENSP00000252530:R210T	ENSP00000252530:R210T	R	+	2	0	FAM98C	43587897	0.813000	0.29090	1.000000	0.80357	0.954000	0.61252	0.776000	0.26704	2.269000	0.75478	0.558000	0.71614	AGA		0.572	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		4	57	0	0	0	1	0	4	57				
HECW2	57520	broad.mit.edu	37	2	197298099	197298099	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr2:197298099G>A	ENST00000260983.3	-	2	231	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	17					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CGCATCTGGGGATTTCGACGC	0.577																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(49-51)Ccc>Tcc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							74.0	67.0	69.0					2																	197298099		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197298099G>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.49C>T	2.37:g.197298099G>A	ENSP00000260983:p.Pro17Ser						p.P17S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			2	231	-			17					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.49C>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302579	0.81136	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.36157	1.27;1.27;1.27	5.27	5.27	0.74061	.	0.140647	0.48767	D	0.000164	T	0.34337	0.0894	L	0.38838	1.175	0.49051	D	0.999744	B	0.21452	0.056	B	0.21546	0.035	T	0.10543	-1.0625	10	0.56958	D	0.05	.	19.0714	0.93138	0.0:0.0:1.0:0.0	.	17	Q9P2P5	HECW2_HUMAN	S	17	ENSP00000260983:P17S;ENSP00000409918:P17S;ENSP00000395770:P17S	ENSP00000260983:P17S	P	-	1	0	HECW2	197006344	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.850000	0.69473	2.736000	0.93811	0.561000	0.74099	CCC		0.577	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		5	69	0	0	0	1	0	5	69				
BCKDHA	593	broad.mit.edu	37	19	41931682	41931682	+	IGR	SNP	G	G	A	rs142140890	byFrequency	TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr19:41931682G>A	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000321702.2_Silent_p.D334D|B3GNT8_ENST00000601379.1_5'Flank|CTC-435M10.6_ENST00000598887.1_RNA	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CAGTGTAGACGTCCTCAAAGG	0.692													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16285	0.0		0.0	False		,,,				2504	0.0					ENST00000321702.2																			0				cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						c.(1000-1002)gaC>gaT		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8		G		2,4402		0,2,2200	33.0	36.0	35.0		1002	-7.2	0.1	19	dbSNP_134	35	0,8596		0,0,4298	no	coding-synonymous	B3GNT8	NM_198540.2		0,2,6498	AA,AG,GG		0.0,0.0454,0.0154		334/398	41931682	2,12998	2202	4298	6500	SO:0001628	intergenic_variant	374907				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	g.chr19:41931682G>A	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41931682G>A						CTC-435M10.6_ENST00000598887.1_RNA	p.D334D	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN			3	1455	-			334					B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	ENST00000269980.2	37	c.1002C>T	CCDS12581.1																																																																																				0.692	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		4	53	0	0	0	1	0	4	53				
TANC1	85461	broad.mit.edu	37	2	160087145	160087145	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr2:160087145G>C	ENST00000263635.6	+	27	5445	c.5208G>C	c.(5206-5208)caG>caC	p.Q1736H	TANC1_ENST00000454300.1_Missense_Mutation_p.Q1630H	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1736					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCCAACAGCAGAGCAATCCTC	0.577																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(5206-5208)caG>caC		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							76.0	84.0	81.0					2																	160087145		2080	4210	6290	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160087145G>C	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.5208G>C	2.37:g.160087145G>C	ENSP00000263635:p.Gln1736His					TANC1_ENST00000454300.1_Missense_Mutation_p.Q1630H	p.Q1736H	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			27	5445	+			1736					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.5208G>C	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528590	0.64860	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.72282	-0.64;-0.64	6.06	5.17	0.71159	.	0.054227	0.85682	D	0.000000	T	0.76608	0.4011	L	0.60455	1.87	0.51233	D	0.999919	D	0.67145	0.996	P	0.59703	0.862	T	0.76462	-0.2950	9	.	.	.	.	9.9892	0.41860	0.1708:0.0:0.8292:0.0	.	1736	Q9C0D5	TANC1_HUMAN	H	1630;1736	ENSP00000396339:Q1630H;ENSP00000263635:Q1736H	.	Q	+	3	2	TANC1	159795391	.	.	0.977000	0.42913	0.967000	0.64934	.	.	1.547000	0.49401	0.655000	0.94253	CAG		0.577	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			8	109	0	0	0	1	0	8	109				
POM121C	100101267	broad.mit.edu	37	7	75044463	75044463	+	IGR	SNP	G	G	A	rs71245954	byFrequency	TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr7:75044463G>A	ENST00000257665.5	-	0	5700				NSUN5P1_ENST00000393633.2_RNA			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C						mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TGCCTGTGCCGCCCCAGGCAA	0.612													.|||	329	0.0656949	0.0151	0.0735	5008	,	,		17141	0.0139		0.174	False		,,,				2504	0.0706					ENST00000393633.2																			0				large_intestine(1)|lung(1)	2																																												SO:0001628	intergenic_variant	0							g.chr7:75044463G>A		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238		7.37:g.75044463G>A														0	3631	+								O75115|Q9Y2N3|Q9Y4S7	RNA	SNP	ENST00000257665.5	37																																																																																						0.612	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		3	32	0	0	0	1	0	3	32				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	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		24	68	0	0	0	1	0	24	68				
PPP1R3F	89801	broad.mit.edu	37	X	49127085	49127085	+	Silent	SNP	G	G	A			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chrX:49127085G>A	ENST00000055335.6	+	1	769	c.753G>A	c.(751-753)gaG>gaA	p.E251E	PPP1R3F_ENST00000466508.1_5'UTR|LL0XNC01-7P3.1_ENST00000602455.1_lincRNA|PPP1R3F_ENST00000438316.1_5'UTR|PPP1R3F_ENST00000495799.1_Intron	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	251	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CCTTTGCTGAGGGCGCGGGCG	0.701																																						ENST00000055335.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27						c.(751-753)gaG>gaA		protein phosphatase 1, regulatory subunit 3F							14.0	13.0	13.0					X																	49127085		2195	4274	6469	SO:0001819	synonymous_variant	89801					integral to membrane		g.chrX:49127085G>A		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.753G>A	X.37:g.49127085G>A						PPP1R3F_ENST00000495799.1_Intron|PPP1R3F_ENST00000466508.1_5'UTR|PPP1R3F_ENST00000438316.1_5'UTR	p.E251E	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN			1	769	+	Ovarian(276;0.236)		251			CBM21.		A2VDJ8|B3KPW2|E9PCM3	Silent	SNP	ENST00000055335.6	37	c.753G>A	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	g	9.672	1.146873	0.21288	.	.	ENSG00000049769	ENST00000471261	.	.	.	4.37	3.46	0.39613	.	.	.	.	.	T	0.48589	0.1508	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43669	-0.9377	4	.	.	.	-12.8282	4.9315	0.13919	0.116:0.0:0.6735:0.2105	.	.	.	.	K	1	.	.	R	+	2	0	PPP1R3F	49014029	0.627000	0.27129	1.000000	0.80357	0.993000	0.82548	1.451000	0.35145	1.741000	0.51731	0.509000	0.49947	AGG		0.701	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		3	28	0	0	0	1	0	3	28				
FPR1	2357	broad.mit.edu	37	19	52249646	52249646	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chr19:52249646C>G	ENST00000595042.1	-	3	743	c.602G>C	c.(601-603)aGa>aCa	p.R201T	FPR1_ENST00000304748.4_Missense_Mutation_p.R201T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	201					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GATGATGCCTCTCACCGTCAA	0.507																																						ENST00000595042.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(601-603)aGa>aCa		formyl peptide receptor 1	Nedocromil(DB00716)						140.0	124.0	130.0					19																	52249646		2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249646C>G	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.602G>C	19.37:g.52249646C>G	ENSP00000471493:p.Arg201Thr					FPR1_ENST00000304748.4_Missense_Mutation_p.R201T	p.R201T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	743	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	201					Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.602G>C	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	2.143	-0.396372	0.04899	.	.	ENSG00000171051	ENST00000304748	T	0.37058	1.22	3.66	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	0.443316	0.18365	N	0.143451	T	0.24699	0.0599	L	0.39467	1.215	0.26505	N	0.974693	B	0.19073	0.033	B	0.25987	0.065	T	0.16217	-1.0410	10	0.21540	T	0.41	.	5.6428	0.17572	0.3913:0.4172:0.1915:0.0	.	201	P21462	FPR1_HUMAN	T	201	ENSP00000302707:R201T	ENSP00000302707:R201T	R	-	2	0	FPR1	56941458	0.136000	0.22515	0.598000	0.28837	0.090000	0.18270	0.898000	0.28404	0.769000	0.33313	0.655000	0.94253	AGA		0.507	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		6	90	0	0	0	1	0	6	90				
GPSM3	63940	broad.mit.edu	37	6	32159644	32159644	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chr6:32159644C>T	ENST00000375040.3	-	3	579	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	GPSM3_ENST00000375043.3_Missense_Mutation_p.E63K|GPSM3_ENST00000487761.1_Missense_Mutation_p.E60K|PBX2_ENST00000375050.4_5'Flank	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	63	GoLoco 1. {ECO:0000255|PROSITE- ProRule:PRU00097}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cytoplasm (GO:0005737)	GDP-dissociation inhibitor activity (GO:0005092)			large_intestine(1)	1						AGAAGGAGTTCAGTCTGCAGG	0.672																																						ENST00000375040.3																			0				large_intestine(1)	1						c.(187-189)Gaa>Aaa		G-protein signaling modulator 3							34.0	44.0	41.0					6																	32159644		1507	2707	4214	SO:0001583	missense	63940				signal transduction	cytoplasm	GTPase activator activity|protein binding	g.chr6:32159644C>T	AF155657	CCDS34419.1	6p21.3	2010-06-24	2010-06-24	2004-02-04	ENSG00000213654	ENSG00000213654			13945	protein-coding gene	gene with protein product	"""activator of G-protein signaling 4"""		"""chromosome 6 open reading frame 9"", ""G-protein signalling modulator 3 (AGS3-like, C. elegans)"""	C6orf9		2259622, 15096500	Standard	NM_022107		Approved	NG1, G18, G18.1a, G18.1b, G18.2, AGS4	uc003oaz.3	Q9Y4H4	OTTHUMG00000031244	ENST00000375040.3:c.187G>A	6.37:g.32159644C>T	ENSP00000364180:p.Glu63Lys					GPSM3_ENST00000375043.3_Missense_Mutation_p.E63K|GPSM3_ENST00000487761.1_Missense_Mutation_p.E60K	p.E63K	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN			3	579	-			63			GoLoco 1.		A2BFJ3	Missense_Mutation	SNP	ENST00000375040.3	37	c.187G>A	CCDS34419.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214988	0.79352	.	.	ENSG00000213654	ENST00000487761;ENST00000375040;ENST00000375043	.	.	.	4.19	4.19	0.49359	GoLoco motif (3);	0.000000	0.64402	U	0.000015	T	0.53674	0.1811	L	0.27053	0.805	0.45477	D	0.998445	D;D	0.69078	0.997;0.997	D;D	0.77004	0.989;0.989	T	0.60984	-0.7154	9	0.72032	D	0.01	-17.9208	11.8856	0.52600	0.0:1.0:0.0:0.0	.	63;63	Q9Y4H4;A2BFJ3	GPSM3_HUMAN;.	K	60;63;63	.	ENSP00000364180:E63K	E	-	1	0	GPSM3	32267622	0.973000	0.33851	0.989000	0.46669	0.928000	0.56348	3.635000	0.54309	2.176000	0.68965	0.305000	0.20034	GAA		0.672	GPSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076509.1	NM_022107		4	60	0	0	0	1	0	4	60				
DOCK8	81704	broad.mit.edu	37	9	406991	406991	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chr9:406991C>T	ENST00000453981.1	+	28	3564	c.3452C>T	c.(3451-3453)tCc>tTc	p.S1151F	DOCK8_ENST00000432829.2_Missense_Mutation_p.S1083F|DOCK8_ENST00000382329.1_Missense_Mutation_p.S618F|DOCK8_ENST00000469391.1_Missense_Mutation_p.S1051F			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1151					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GATCTGACTTCCGAGTACCGC	0.522																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(3247-3249)tCc>tTc		dedicator of cytokinesis 8							103.0	99.0	100.0					9																	406991		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:406991C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3452C>T	9.37:g.406991C>T	ENSP00000408464:p.Ser1151Phe					DOCK8_ENST00000382329.1_Missense_Mutation_p.S618F|DOCK8_ENST00000469391.1_Missense_Mutation_p.S1051F|DOCK8_ENST00000453981.1_Missense_Mutation_p.S1151F	p.S1083F	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	28	3564	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1151					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.3248C>T	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476711	0.44044	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.62	5.62	0.85841	.	0.370945	0.34245	N	0.004135	T	0.26919	0.0659	L	0.29908	0.895	0.19300	N	0.999974	B;B;B	0.20164	0.012;0.042;0.012	B;B;B	0.29716	0.066;0.106;0.066	T	0.23404	-1.0189	10	0.56958	D	0.05	.	20.0246	0.97519	0.0:1.0:0.0:0.0	.	1051;618;1151	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	F	1151;1119;1083;1051;618	ENSP00000408464:S1151F;ENSP00000394888:S1083F;ENSP00000419438:S1051F;ENSP00000371766:S618F	ENSP00000287364:S1119F	S	+	2	0	DOCK8	396991	0.075000	0.21258	0.068000	0.19968	0.816000	0.46133	3.722000	0.54948	2.810000	0.96702	0.650000	0.86243	TCC		0.522	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		7	120	0	0	0	1	0	7	120				
PLCB4	5332	broad.mit.edu	37	20	9449316	9449316	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chr20:9449316A>G	ENST00000378493.1	+	32	3326	c.3311A>G	c.(3310-3312)gAa>gGa	p.E1104G	PLCB4_ENST00000278655.4_Missense_Mutation_p.E1104G|PLCB4_ENST00000334005.3_Missense_Mutation_p.E1104G|PLCB4_ENST00000414679.2_Missense_Mutation_p.E1116G|PLCB4_ENST00000378473.3_Missense_Mutation_p.E1116G|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.E1104G			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1104					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GCAGAACGGGAAAGGTAAGTC	0.423																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(3310-3312)gAa>gGa		phospholipase C, beta 4							109.0	98.0	102.0					20																	9449316		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9449316A>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3311A>G	20.37:g.9449316A>G	ENSP00000367754:p.Glu1104Gly					PLCB4_ENST00000334005.3_Missense_Mutation_p.E1104G|PLCB4_ENST00000278655.4_Missense_Mutation_p.E1104G|PLCB4_ENST00000378473.3_Missense_Mutation_p.E1116G|PLCB4_ENST00000414679.2_Missense_Mutation_p.E1116G|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.E1104G	p.E1104G	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			32	3326	+			1104					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.3311A>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.721868	0.89298	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	L	0.58101	1.795	0.80722	D	1	P;D;D;B	0.63880	0.907;0.993;0.982;0.081	P;P;P;B	0.56960	0.663;0.81;0.533;0.056	T	0.68345	-0.5433	10	0.72032	D	0.01	.	16.0539	0.80782	1.0:0.0:0.0:0.0	.	1116;951;1104;1104	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	G	1104;1116;1104;1104;1104;952	ENSP00000334105:E1104G;ENSP00000367734:E1116G;ENSP00000278655:E1104G;ENSP00000367754:E1104G;ENSP00000367762:E1104G;ENSP00000390616:E952G	ENSP00000278655:E1104G	E	+	2	0	PLCB4	9397316	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.564000	0.90726	2.193000	0.70182	0.533000	0.62120	GAA		0.423	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			16	52	0	0	0	1	0	16	52				
PCDHB17	54661	broad.mit.edu	37	5	140537004	140537004	+	Silent	SNP	C	C	T	rs246697	byFrequency	TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chr5:140537004C>T	ENST00000539533.1	+	1	1428	c.1428C>T	c.(1426-1428)gcC>gcT	p.A476A						protocadherin beta 17 pseudogene																		GTGTCAGCGCCACAGACAGAG	0.642													C|||	1108	0.221246	0.4803	0.2406	5008	,	,		16144	0.0407		0.169	False		,,,				2504	0.0971					ENST00000539533.1																			0											c.(1426-1428)gcC>gcT																																						SO:0001819	synonymous_variant	0							g.chr5:140537004C>T	AF152527		5q31	2010-01-26				ENSG00000255622		"""Cadherins / Protocadherins : Clustered"""	14547	pseudogene	pseudogene						10380929	Standard	NR_001280		Approved	PCDH-psi1	uc003lis.3			ENST00000539533.1:c.1428C>T	5.37:g.140537004C>T							p.A476A							1	1428	+									Silent	SNP	ENST00000539533.1	37	c.1428C>T																																																																																					0.642	PCDHB17-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				8	195	0	0	0	1	0	8	195				
RASAL1	8437	broad.mit.edu	37	12	113553841	113553842	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chr12:113553841_113553842GG>AA	ENST00000261729.5	-	10	1061_1062	c.746_747CC>TT	c.(745-747)gCC>gTT	p.A249V	RASAL1_ENST00000548055.1_Missense_Mutation_p.A249V|RASAL1_ENST00000546530.1_Missense_Mutation_p.A249V|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.A249V			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	249					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCACTCGCAGGGCACCCAGGTT	0.579																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(745-747)gcC>gcT|c.(745-747)gCc>gTc		RAS protein activator like 1 (GAP1 like)																																				SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113553841G>A|g.chr12:113553842G>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.746_747delinsAA	12.37:g.113553841_113553842delinsAA	ENSP00000261729:p.Ala249Val					RASAL1_ENST00000548055.1_Silent_p.A249A|RASAL1_ENST00000261729.5_Silent_p.A249A|RASAL1_ENST00000446861.3_Silent_p.A249A|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.A249V|RASAL1_ENST00000261729.5_Missense_Mutation_p.A249V|RASAL1_ENST00000446861.3_Missense_Mutation_p.A249V|RASAL1_ENST00000418411.2_5'UTR	p.A249A|p.A249V	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			10	1032|1031	-			249					B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Silent|Missense_Mutation	SNP	ENST00000261729.5	37	c.747C>T|c.746C>T	CCDS9165.1																																																																																				0.579	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		4	58|57	0	0	0	1	0	4	57				
TENM1	10178	broad.mit.edu	37	X	123630900	123630900	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chrX:123630900G>A	ENST00000371130.3	-	20	3724	c.3661C>T	c.(3661-3663)Ccc>Tcc	p.P1221S	TENM1_ENST00000422452.2_Missense_Mutation_p.P1221S|TENM1_ENST00000461429.1_5'UTR	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1221					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTTCCCGAGGGAAATATTCTC	0.398																																						ENST00000422452.2																			0											c.(3661-3663)Ccc>Tcc		teneurin transmembrane protein 1							67.0	68.0	68.0					X																	123630900		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123630900G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3661C>T	X.37:g.123630900G>A	ENSP00000360171:p.Pro1221Ser					TENM1_ENST00000371130.3_Missense_Mutation_p.P1221S|TENM1_ENST00000461429.1_5'UTR	p.P1221S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					20	3724	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.3661C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790313	0.50102	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90955	-2.76;-2.17	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);	0.059445	0.64402	D	0.000002	D	0.88720	0.6513	L	0.45051	1.395	0.80722	D	1	P;B;P	0.35745	0.518;0.376;0.485	B;B;B	0.36666	0.129;0.073;0.23	D	0.88867	0.3330	10	0.66056	D	0.02	.	18.7655	0.91871	0.0:0.0:1.0:0.0	.	1220;1221;1221	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	1221	ENSP00000360171:P1221S;ENSP00000403954:P1221S	ENSP00000360171:P1221S	P	-	1	0	ODZ1	123458581	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.392000	0.73213	2.376000	0.81061	0.600000	0.82982	CCC		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		4	60	0	0	0	1	0	4	60				
TCP11L2	255394	broad.mit.edu	37	12	106734726	106734726	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chr12:106734726G>A	ENST00000299045.3	+	9	1439	c.1265G>A	c.(1264-1266)gGt>gAt	p.G422D		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	422										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						AATCTTATAGGTCAATTTTCA	0.373																																						ENST00000299045.3																			0				endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						c.(1264-1266)gGt>gAt		t-complex 11, testis-specific-like 2							181.0	176.0	178.0					12																	106734726		2203	4300	6503	SO:0001583	missense	255394							g.chr12:106734726G>A	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.1265G>A	12.37:g.106734726G>A	ENSP00000299045:p.Gly422Asp						p.G422D	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN			9	1439	+			422					B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	c.1265G>A	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280184	0.80692	.	.	ENSG00000166046	ENST00000299045	T	0.12774	2.65	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.40815	0.1132	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12116	-1.0560	10	0.36615	T	0.2	-0.0368	19.0691	0.93125	0.0:0.0:1.0:0.0	.	422	Q8N4U5	T11L2_HUMAN	D	422	ENSP00000299045:G422D	ENSP00000299045:G422D	G	+	2	0	TCP11L2	105258856	1.000000	0.71417	0.987000	0.45799	0.865000	0.49528	7.159000	0.77483	2.490000	0.84030	0.557000	0.71058	GGT		0.373	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		9	126	0	0	0	1	0	9	126				
CHAF1B	8208	broad.mit.edu	37	21	37785504	37785504	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chr21:37785504G>A	ENST00000314103.5	+	12	1535	c.1384G>A	c.(1384-1386)Ggg>Agg	p.G462R		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	462					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CCCCTTGCCGGGGCCTTCGGA	0.627																																						ENST00000314103.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						c.(1384-1386)Ggg>Agg		chromatin assembly factor 1, subunit B (p60)							28.0	29.0	29.0					21																	37785504		2203	4300	6503	SO:0001583	missense	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37785504G>A	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.1384G>A	21.37:g.37785504G>A	ENSP00000315700:p.Gly462Arg						p.G462R	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN			12	1535	+			462					Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	c.1384G>A	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	G	2.892	-0.229445	0.06022	.	.	ENSG00000159259	ENST00000314103	T	0.41758	0.99	4.98	1.97	0.26223	.	1.292330	0.04923	N	0.455331	T	0.25568	0.0622	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19353	-1.0308	10	0.17369	T	0.5	-4.4581	3.4416	0.07465	0.0949:0.444:0.2564:0.2047	.	462	Q13112	CAF1B_HUMAN	R	462	ENSP00000315700:G462R	ENSP00000315700:G462R	G	+	1	0	CHAF1B	36707374	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.120000	0.15647	0.469000	0.27268	0.558000	0.71614	GGG		0.627	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		4	31	0	0	0	1	0	4	31				
GOLGA6L17P	642402	broad.mit.edu	37	15	85053124	85053124	+	RNA	SNP	G	G	T	rs192508624	byFrequency	TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chr15:85053124G>T	ENST00000414190.2	-	0	328					NR_003246.2																						TAAATGTTTTGTTTTTTTTTT	0.353																																						ENST00000414190.2																			0																																																			0							g.chr15:85053124G>T																													15.37:g.85053124G>T								NR_003246.2						0	328	-									RNA	SNP	ENST00000414190.2	37																																																																																						0.353	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			3	7	1	0	0.115264	1	0.115264	3	7				
TLR8	51311	broad.mit.edu	37	X	12940129	12940129	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chrX:12940129G>C	ENST00000218032.6	+	2	3057	c.2970G>C	c.(2968-2970)ttG>ttC	p.L990F	TLR8_ENST00000311912.5_Missense_Mutation_p.L1008F	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	990	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	CTCAGTATTTGAGGCTACGGC	0.463																																						ENST00000218032.6																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2968-2970)ttG>ttC		toll-like receptor 8							102.0	97.0	99.0					X																	12940129		2203	4300	6503	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12940129G>C	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2970G>C	X.37:g.12940129G>C	ENSP00000218032:p.Leu990Phe					TLR8_ENST00000311912.5_Missense_Mutation_p.L1008F	p.L990F	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN			2	3057	+			990			TIR.		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.2970G>C	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272316	0.40194	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.08807	3.05;3.05	5.7	4.83	0.62350	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.000000	0.30989	N	0.008462	T	0.22666	0.0547	M	0.75615	2.305	0.39518	D	0.968477	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.988	T	0.04191	-1.0970	10	0.54805	T	0.06	.	3.8555	0.08973	0.0778:0.2524:0.4398:0.23	.	990;1008	Q9NR97;D1CS70	TLR8_HUMAN;.	F	990;1008	ENSP00000218032:L990F;ENSP00000312082:L1008F	ENSP00000218032:L990F	L	+	3	2	TLR8	12850050	0.762000	0.28451	0.925000	0.36789	0.788000	0.44548	0.775000	0.26689	1.170000	0.42753	0.600000	0.82982	TTG		0.463	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		6	113	0	0	0	1	0	6	113				
AKR1D1	6718	broad.mit.edu	37	7	137801382	137801382	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chr7:137801382G>A	ENST00000242375.3	+	9	997	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Silent_p.*291*|AKR1D1_ENST00000411726.2_Missense_Mutation_p.E278K	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	319					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	CGATCATCCTGAATACCCATT	0.443																																						ENST00000242375.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(955-957)Gaa>Aaa		aldo-keto reductase family 1, member D1							140.0	138.0	139.0					7																	137801382		2203	4300	6503	SO:0001583	missense	6718				androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	g.chr7:137801382G>A	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.955G>A	7.37:g.137801382G>A	ENSP00000242375:p.Glu319Lys					AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Missense_Mutation_p.E278K|AKR1D1_ENST00000432161.1_Silent_p.*291*	p.E319K	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN			9	997	+			319					A1L4P6|A8K060|B4DPN3|B4DPN8	Missense_Mutation	SNP	ENST00000242375.3	37	c.955G>A	CCDS5846.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985988	0.53934	.	.	ENSG00000122787	ENST00000411726;ENST00000242375	T;T	0.50277	0.75;0.75	4.88	4.88	0.63580	NADP-dependent oxidoreductase domain (2);	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	.	.	.	0.58432	D	0.999998	D;B	0.58268	0.982;0.034	P;B	0.55303	0.773;0.026	T	0.57359	-0.7825	9	0.37606	T	0.19	.	15.561	0.76244	0.0:0.0:1.0:0.0	.	278;319	B4DPN8;P51857	.;AK1D1_HUMAN	K	278;319	ENSP00000402374:E278K;ENSP00000242375:E319K	ENSP00000242375:E319K	E	+	1	0	AKR1D1	137451922	1.000000	0.71417	0.995000	0.50966	0.076000	0.17211	8.394000	0.90185	2.539000	0.85634	0.655000	0.94253	GAA		0.443	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1	NM_005989		6	65	0	0	0	1	0	6	65				
DOCK8	81704	broad.mit.edu	37	9	406992	406992	+	Silent	SNP	C	C	T	rs373733736		TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chr9:406992C>T	ENST00000453981.1	+	28	3565	c.3453C>T	c.(3451-3453)tcC>tcT	p.S1151S	DOCK8_ENST00000432829.2_Silent_p.S1083S|DOCK8_ENST00000382329.1_Silent_p.S618S|DOCK8_ENST00000469391.1_Silent_p.S1051S			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1151					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATCTGACTTCCGAGTACCGCC	0.527													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18042	0.0		0.0	False		,,,				2504	0.0					ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(3247-3249)tcC>tcT		dedicator of cytokinesis 8		C	,,	1,4405	2.1+/-5.4	0,1,2202	102.0	98.0	100.0		3153,3249,3453	-11.2	0.0	9		100	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	1051/2000,1083/2032,1151/2100	406992	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:406992C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3453C>T	9.37:g.406992C>T						DOCK8_ENST00000382329.1_Silent_p.S618S|DOCK8_ENST00000469391.1_Silent_p.S1051S|DOCK8_ENST00000453981.1_Silent_p.S1151S	p.S1083S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	28	3565	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1151					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.3249C>T	CCDS6440.2																																																																																				0.527	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		7	120	0	0	0	1	0	7	120				
NDUFA9	4704	broad.mit.edu	37	12	4771757	4771757	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chr12:4771757C>T	ENST00000266544.5	+	6	631	c.611C>T	c.(610-612)tCg>tTg	p.S204L	RP11-500M8.7_ENST00000536588.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	204					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						GTAAAGCCGTCGGACATCTTT	0.388																																					Colon(75;996 1244 23946 25294 29232)	ENST00000266544.5																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(610-612)tCg>tTg		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	NADH(DB00157)						170.0	163.0	165.0					12																	4771757		2203	4300	6503	SO:0001583	missense	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4771757C>T	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.611C>T	12.37:g.4771757C>T	ENSP00000266544:p.Ser204Leu						p.S204L	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN			6	631	+			204					Q14076|Q2NKX0	Missense_Mutation	SNP	ENST00000266544.5	37	c.611C>T	CCDS8532.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717111	0.48622	.	.	ENSG00000139180	ENST00000266544	D	0.93906	-3.31	5.15	4.2	0.49525	NAD(P)-binding domain (1);	0.285278	0.40908	D	0.001000	D	0.96522	0.8865	H	0.96748	3.875	0.80722	D	1	P;P	0.52463	0.953;0.953	P;P	0.49829	0.623;0.623	D	0.97530	1.0079	10	0.72032	D	0.01	-13.715	14.3765	0.66881	0.0:0.851:0.149:0.0	.	204;204	A8K4V2;Q16795	.;NDUA9_HUMAN	L	204	ENSP00000266544:S204L	ENSP00000266544:S204L	S	+	2	0	NDUFA9	4642018	0.820000	0.29190	0.008000	0.14137	0.495000	0.33615	4.547000	0.60712	2.530000	0.85305	0.555000	0.69702	TCG		0.388	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		7	127	0	0	0	1	0	7	127				
AUTS2	26053	broad.mit.edu	37	7	70249984	70249984	+	Missense_Mutation	SNP	C	C	T	rs34479874		TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chr7:70249984C>T	ENST00000342771.4	+	16	2524	c.2203C>T	c.(2203-2205)Ctc>Ttc	p.L735F	AUTS2_ENST00000406775.2_Missense_Mutation_p.L711F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	735										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CAGCAACTTCCTCAACCCTGC	0.517																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(2203-2205)Ctc>Ttc		autism susceptibility candidate 2							107.0	91.0	97.0					7																	70249984		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70249984C>T	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2203C>T	7.37:g.70249984C>T	ENSP00000344087:p.Leu735Phe					AUTS2_ENST00000406775.2_Missense_Mutation_p.L711F	p.L735F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	16	2524	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	735					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.2203C>T	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	C	34	5.294758	0.95546	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.53206	0.67;0.63	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.70124	0.3188	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.998	T	0.66913	-0.5803	9	.	.	.	-27.5929	20.3732	0.98896	0.0:1.0:0.0:0.0	.	187;711;735	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	F	711;735	ENSP00000385263:L711F;ENSP00000344087:L735F	.	L	+	1	0	AUTS2	69887920	1.000000	0.71417	0.990000	0.47175	0.985000	0.73830	6.986000	0.76200	2.809000	0.96659	0.650000	0.86243	CTC		0.517	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			4	59	0	0	0	1	0	4	59				
FAM78A	286336	broad.mit.edu	37	9	134136313	134136313	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chr9:134136313G>A	ENST00000372271.3	-	2	1115	c.748C>T	c.(748-750)Ccg>Tcg	p.P250S	FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Missense_Mutation_p.P247S	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	250										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		GCGCTGGGCGGGATGGGCTCA	0.687																																						ENST00000372271.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(748-750)Ccg>Tcg		family with sequence similarity 78, member A							88.0	93.0	91.0					9																	134136313		2203	4300	6503	SO:0001583	missense	286336							g.chr9:134136313G>A	AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 59"""	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.748C>T	9.37:g.134136313G>A	ENSP00000361345:p.Pro250Ser					FAM78A_ENST00000372269.3_Missense_Mutation_p.P247S|FAM78A_ENST00000247295.4_5'UTR	p.P250S	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)	2	1115	-	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	250					Q86VQ9|Q9H7P4	Missense_Mutation	SNP	ENST00000372271.3	37	c.748C>T	CCDS6941.2	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682780	0.47991	.	.	ENSG00000126882	ENST00000372269;ENST00000372271;ENST00000464831	D;D;D	0.95342	-3.68;-3.68;-3.68	4.63	4.63	0.57726	.	0.049204	0.85682	D	0.000000	D	0.93612	0.7960	M	0.75777	2.31	0.80722	D	1	B;P	0.48503	0.291;0.911	B;B	0.39840	0.072;0.311	D	0.94848	0.8011	10	0.87932	D	0	-26.4943	16.8258	0.85930	0.0:0.0:1.0:0.0	.	250;247	Q5JUQ0;Q5JUQ2	FA78A_HUMAN;.	S	247;250;219	ENSP00000361343:P247S;ENSP00000361345:P250S;ENSP00000419959:P219S	ENSP00000361343:P247S	P	-	1	0	FAM78A	133126134	1.000000	0.71417	0.996000	0.52242	0.663000	0.39108	6.688000	0.74557	2.272000	0.75746	0.313000	0.20887	CCG		0.687	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387		6	116	0	0	0	1	0	6	116				
TUBB8	347688	broad.mit.edu	37	10	93798	93798	+	Silent	SNP	G	G	A	rs372550049		TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chr10:93798G>A	ENST00000309812.4	-	4	596	c.534C>T	c.(532-534)acC>acT	p.T178T	TUBB8_ENST00000447903.2_Silent_p.T106T|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_3'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	178					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GCTCCACCACGGTGTCCGACA	0.522													g|||	1	0.000199681	0.0008	0.0	5008	,	,		28480	0.0		0.0	False		,,,				2504	0.0				Pancreas(192;2041 3010 9013 18103)	ENST00000447903.2																			0				NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32						c.(316-318)acC>acT		tubulin, beta 8 class VIII							105.0	94.0	98.0					10																	93798		2203	4293	6496	SO:0001819	synonymous_variant	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93798G>A	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.534C>T	10.37:g.93798G>A						TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Silent_p.T178T|TUBB8_ENST00000332708.5_3'UTR	p.T106T			Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	633	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	178					Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	c.318C>T	CCDS7051.1																																																																																				0.522	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		16	113	0	0	0	1	0	16	113				
RLIM	51132	broad.mit.edu	37	X	73812337	73812337	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chrX:73812337C>G	ENST00000332687.6	-	4	1031	c.813G>C	c.(811-813)ttG>ttC	p.L271F	RLIM_ENST00000349225.2_Missense_Mutation_p.L271F	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	271					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTGCTGCCTCAATGTCACAT	0.453																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(811-813)ttG>ttC		ring finger protein, LIM domain interacting							88.0	81.0	83.0					X																	73812337		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73812337C>G	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.813G>C	X.37:g.73812337C>G	ENSP00000328059:p.Leu271Phe					RLIM_ENST00000349225.2_Missense_Mutation_p.L271F	p.L271F	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1031	-			271					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.813G>C	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	C	7.828	0.719204	0.15372	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.08896	3.04;3.04	5.79	3.08	0.35506	.	0.229654	0.38005	N	0.001850	T	0.07143	0.0181	L	0.55481	1.735	0.35268	D	0.780171	P	0.45902	0.868	B	0.39876	0.312	T	0.42413	-0.9453	10	0.16896	T	0.51	-0.0788	4.8873	0.13710	0.0:0.4691:0.1438:0.3871	.	271	Q9NVW2	RNF12_HUMAN	F	271	ENSP00000328059:L271F;ENSP00000253571:L271F	ENSP00000328059:L271F	L	-	3	2	RLIM	73729062	0.937000	0.31787	0.993000	0.49108	0.986000	0.74619	-0.003000	0.12901	0.218000	0.20820	0.600000	0.82982	TTG		0.453	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		8	117	0	0	0	1	0	8	117				
LOC150776	150776	broad.mit.edu	37	2	132258593	132258593	+	RNA	SNP	A	A	G	rs13415770	byFrequency	TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chr2:132258593A>G	ENST00000438378.2	+	0	777					NR_026922.1																						CTGTACCACAACAAGGTCCAG	0.617													.|||	1503	0.30012	0.0189	0.4092	5008	,	,		19153	0.6796		0.2157	False		,,,				2504	0.2986					ENST00000438378.2																			0																																																			0							g.chr2:132258593A>G																													2.37:g.132258593A>G								NR_026922.1						0	777	+									RNA	SNP	ENST00000438378.2	37																																																																																						0.617	AC093838.4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331819.7			3	23	0	0	0	1	0	3	23				
FAM98C	147965	broad.mit.edu	37	19	38896057	38896057	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chr19:38896057G>C	ENST00000252530.5	+	5	648	c.629G>C	c.(628-630)aGa>aCa	p.R210T	FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	210										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GATGCACCCAGATGGGTAAGA	0.572																																						ENST00000252530.5																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(628-630)aGa>aCa		family with sequence similarity 98, member C							86.0	86.0	86.0					19																	38896057		2135	4253	6388	SO:0001583	missense	147965							g.chr19:38896057G>C		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.629G>C	19.37:g.38896057G>C	ENSP00000252530:p.Arg210Thr					FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Intron	p.R210T	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		5	648	+	all_cancers(60;3.95e-06)		210					A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	c.629G>C	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211272	0.58343	.	.	ENSG00000130244	ENST00000252530	T	0.42513	0.97	4.9	4.9	0.64082	.	0.144282	0.31246	N	0.007993	T	0.42653	0.1212	M	0.70595	2.14	0.80722	D	1	P	0.34934	0.476	B	0.33196	0.159	T	0.41893	-0.9483	10	0.39692	T	0.17	3.9306	13.6443	0.62272	0.0:0.0:1.0:0.0	.	210	Q17RN3	FA98C_HUMAN	T	210	ENSP00000252530:R210T	ENSP00000252530:R210T	R	+	2	0	FAM98C	43587897	0.813000	0.29090	1.000000	0.80357	0.954000	0.61252	0.776000	0.26704	2.269000	0.75478	0.558000	0.71614	AGA		0.572	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		4	57	0	0	0	1	0	4	57				
HECW2	57520	broad.mit.edu	37	2	197298099	197298099	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chr2:197298099G>A	ENST00000260983.3	-	2	231	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	17					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CGCATCTGGGGATTTCGACGC	0.577																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(49-51)Ccc>Tcc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							74.0	67.0	69.0					2																	197298099		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197298099G>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.49C>T	2.37:g.197298099G>A	ENSP00000260983:p.Pro17Ser						p.P17S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			2	231	-			17					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.49C>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302579	0.81136	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.36157	1.27;1.27;1.27	5.27	5.27	0.74061	.	0.140647	0.48767	D	0.000164	T	0.34337	0.0894	L	0.38838	1.175	0.49051	D	0.999744	B	0.21452	0.056	B	0.21546	0.035	T	0.10543	-1.0625	10	0.56958	D	0.05	.	19.0714	0.93138	0.0:0.0:1.0:0.0	.	17	Q9P2P5	HECW2_HUMAN	S	17	ENSP00000260983:P17S;ENSP00000409918:P17S;ENSP00000395770:P17S	ENSP00000260983:P17S	P	-	1	0	HECW2	197006344	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.850000	0.69473	2.736000	0.93811	0.561000	0.74099	CCC		0.577	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		5	69	0	0	0	1	0	5	69				
BCKDHA	593	broad.mit.edu	37	19	41931682	41931682	+	IGR	SNP	G	G	A	rs142140890	byFrequency	TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chr19:41931682G>A	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000321702.2_Silent_p.D334D|B3GNT8_ENST00000601379.1_5'Flank|CTC-435M10.6_ENST00000598887.1_RNA	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CAGTGTAGACGTCCTCAAAGG	0.692													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16285	0.0		0.0	False		,,,				2504	0.0					ENST00000321702.2																			0				cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						c.(1000-1002)gaC>gaT		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8		G		2,4402		0,2,2200	33.0	36.0	35.0		1002	-7.2	0.1	19	dbSNP_134	35	0,8596		0,0,4298	no	coding-synonymous	B3GNT8	NM_198540.2		0,2,6498	AA,AG,GG		0.0,0.0454,0.0154		334/398	41931682	2,12998	2202	4298	6500	SO:0001628	intergenic_variant	374907				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	g.chr19:41931682G>A	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41931682G>A						CTC-435M10.6_ENST00000598887.1_RNA	p.D334D	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN			3	1455	-			334					B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	ENST00000269980.2	37	c.1002C>T	CCDS12581.1																																																																																				0.692	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		4	53	0	0	0	1	0	4	53				
TANC1	85461	broad.mit.edu	37	2	160087145	160087145	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chr2:160087145G>C	ENST00000263635.6	+	27	5445	c.5208G>C	c.(5206-5208)caG>caC	p.Q1736H	TANC1_ENST00000454300.1_Missense_Mutation_p.Q1630H	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1736					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCCAACAGCAGAGCAATCCTC	0.577																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(5206-5208)caG>caC		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							76.0	84.0	81.0					2																	160087145		2080	4210	6290	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160087145G>C	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.5208G>C	2.37:g.160087145G>C	ENSP00000263635:p.Gln1736His					TANC1_ENST00000454300.1_Missense_Mutation_p.Q1630H	p.Q1736H	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			27	5445	+			1736					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.5208G>C	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528590	0.64860	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.72282	-0.64;-0.64	6.06	5.17	0.71159	.	0.054227	0.85682	D	0.000000	T	0.76608	0.4011	L	0.60455	1.87	0.51233	D	0.999919	D	0.67145	0.996	P	0.59703	0.862	T	0.76462	-0.2950	9	.	.	.	.	9.9892	0.41860	0.1708:0.0:0.8292:0.0	.	1736	Q9C0D5	TANC1_HUMAN	H	1630;1736	ENSP00000396339:Q1630H;ENSP00000263635:Q1736H	.	Q	+	3	2	TANC1	159795391	.	.	0.977000	0.42913	0.967000	0.64934	.	.	1.547000	0.49401	0.655000	0.94253	CAG		0.577	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			8	109	0	0	0	1	0	8	109				
POM121C	100101267	broad.mit.edu	37	7	75044463	75044463	+	IGR	SNP	G	G	A	rs71245954	byFrequency	TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chr7:75044463G>A	ENST00000257665.5	-	0	5700				NSUN5P1_ENST00000393633.2_RNA			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C						mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TGCCTGTGCCGCCCCAGGCAA	0.612													.|||	329	0.0656949	0.0151	0.0735	5008	,	,		17141	0.0139		0.174	False		,,,				2504	0.0706					ENST00000393633.2																			0				large_intestine(1)|lung(1)	2																																												SO:0001628	intergenic_variant	0							g.chr7:75044463G>A		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238		7.37:g.75044463G>A														0	3631	+								O75115|Q9Y2N3|Q9Y4S7	RNA	SNP	ENST00000257665.5	37																																																																																						0.612	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		3	32	0	0	0	1	0	3	32				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	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		24	68	0	0	0	1	0	24	68				
KANK1	23189	broad.mit.edu	37	9	732475	732477	+	In_Frame_Del	DEL	GAG	GAG	-	rs569686873|rs370051574		TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr9:732475_732477delGAG	ENST00000382303.1	+	10	3755_3757	c.3103_3105delGAG	c.(3103-3105)gagdel	p.E1039del	KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1039					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCTTGAAGAAGAGGAGGAGGAGG	0.463																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3103-3105)del		KN motif and ankyrin repeat domains 1			,	16,0,4248		0,0,16,0,0,2116					,	5.3	1.0		dbSNP_132	135	3,2,8249		0,0,3,1,0,4123	no	codingComplex,codingComplex	KANK1	NM_153186.3,NM_015158.2	,	0,0,19,1,0,6239	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0606,0.3752,0.1678	,	,		19,2,12497				SO:0001651	inframe_deletion	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732475_732477delGAG	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3103_3105delGAG	9.37:g.732484_732486delGAG	ENSP00000371740:p.Glu1039del					KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000382293.3_In_Frame_Del_p.E881del	p.E1039del	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	10	3755_3757	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1039					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	In_Frame_Del	DEL	ENST00000382303.1	37	c.3103_3105delGAG	CCDS34976.1																																																																																				0.463	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		7	148						7	148	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37686861	37686863	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	cbc0921a-26ee-4492-af40-ba86d2868ef0	g.chr17:37686861_37686863delTCC	ENST00000447079.4	+	14	3798_3800	c.3765_3767delTCC	c.(3763-3768)tgtcct>tgt	p.P1257del	CDK12_ENST00000430627.2_Intron	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1257					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CCACAGCATGTCCTCCTCACATT	0.498			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(3763-3768)tgt>tg		cyclin-dependent kinase 12			,	0,4250		0,0,2125					,	5.9	1.0			120	3,8223		0,3,4110	no	coding,intron	CDK12	NM_016507.2,NM_015083.1	,	0,3,6235	A1A1,A1R,RR		0.0365,0.0,0.024	,	,		3,12473				SO:0001651	inframe_deletion	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37686861_37686863delTCC	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3765_3767delTCC	17.37:g.37686864_37686866delTCC	ENSP00000398880:p.Pro1257del	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Intron	p.CP1255del	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			14	3798_3800	+			1255					A7E2B2|B4DYX4|B9EIQ6|O94978	In_Frame_Del	DEL	ENST00000447079.4	37	c.3765_3767delTCC	CCDS11337.1																																																																																				0.498	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		9	330						9	330	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37686861	37686863	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-E8-A2JQ-01A-11D-A19J-08	TCGA-E8-A2JQ-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52299cf0-654e-4a0a-aa9d-dea3c5f1485c	1e2e5415-3eb0-4279-a6cd-aac232c67b8a	g.chr17:37686861_37686863delTCC	ENST00000447079.4	+	14	3798_3800	c.3765_3767delTCC	c.(3763-3768)tgtcct>tgt	p.P1257del	CDK12_ENST00000430627.2_Intron	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1257					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CCACAGCATGTCCTCCTCACATT	0.498			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(3763-3768)tgt>tg		cyclin-dependent kinase 12			,	0,4250		0,0,2125					,	5.9	1.0			120	3,8223		0,3,4110	no	coding,intron	CDK12	NM_016507.2,NM_015083.1	,	0,3,6235	A1A1,A1R,RR		0.0365,0.0,0.024	,	,		3,12473				SO:0001651	inframe_deletion	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37686861_37686863delTCC	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3765_3767delTCC	17.37:g.37686864_37686866delTCC	ENSP00000398880:p.Pro1257del	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Intron	p.CP1255del	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			14	3798_3800	+			1255					A7E2B2|B4DYX4|B9EIQ6|O94978	In_Frame_Del	DEL	ENST00000447079.4	37	c.3765_3767delTCC	CCDS11337.1																																																																																				0.498	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		9	330						9	330	---	---	---	---
