#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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			6	83	0	0	0	1	0	6	83				
KCNB1	3745	broad.mit.edu	37	20	47990861	47990861	+	Silent	SNP	G	G	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr20:47990861G>A	ENST00000371741.4	-	2	1402	c.1236C>T	c.(1234-1236)atC>atT	p.I412I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	412					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	AGTTATTGACGATGATGGGGA	0.512																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(1234-1236)atC>atT		potassium voltage-gated channel, Shab-related subfamily, member 1							77.0	77.0	77.0					20																	47990861		2203	4300	6503	SO:0001819	synonymous_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47990861G>A	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1236C>T	20.37:g.47990861G>A							p.I412I	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1402	-			412					Q14193	Silent	SNP	ENST00000371741.4	37	c.1236C>T	CCDS13418.1																																																																																				0.512	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		86	54	0	0	0	1	0	86	54				
KIAA0907	22889	broad.mit.edu	37	1	155887434	155887434	+	Silent	SNP	A	A	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:155887434A>T	ENST00000368321.3	-	11	1319	c.1296T>A	c.(1294-1296)gcT>gcA	p.A432A	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Silent_p.A432A	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	432	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TGACAGGAGCAGCAGGAATAA	0.532																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1294-1296)gcT>gcA		KIAA0907							18.0	21.0	20.0					1																	155887434		2159	4156	6315	SO:0001819	synonymous_variant	22889							g.chr1:155887434A>T	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1296T>A	1.37:g.155887434A>T						KIAA0907_ENST00000368321.3_Silent_p.A432A	p.A432A			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1321	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		432			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Silent	SNP	ENST00000368321.3	37	c.1296T>A	CCDS30885.1																																																																																				0.532	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		15	10	0	0	0	1	0	15	10				
IDH3B	3420	broad.mit.edu	37	20	2639480	2639480	+	Missense_Mutation	SNP	G	G	A	rs377682152		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr20:2639480G>A	ENST00000380843.4	-	12	1105	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	SNORD57_ENST00000448188.1_RNA|IDH3B_ENST00000488299.1_5'UTR|SNORD86_ENST00000391196.1_RNA|IDH3B_ENST00000380851.5_Intron|SNORD56_ENST00000413522.1_RNA	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	359					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						TCTCGAGTCCGCACCTACAGC	0.547																																						ENST00000380843.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						c.(1075-1077)Cgg>Tgg		isocitrate dehydrogenase 3 (NAD+) beta	NADH(DB00157)	G	TRP/ARG,,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	63.0	65.0		1075,,619	3.8	1.0	20		65	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,missense	IDH3B	NM_006899.2,NM_174855.1,NM_174856.1	101,,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,,benign	359/386,,207/234	2639480	2,13004	2203	4300	6503	SO:0001583	missense	3420				isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr20:2639480G>A		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.1075C>T	20.37:g.2639480G>A	ENSP00000370223:p.Arg359Trp					IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380851.5_Intron	p.R359W	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN			12	1105	-			359					B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Missense_Mutation	SNP	ENST00000380843.4	37	c.1075C>T	CCDS13032.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317631	0.23994	2.27E-4	1.16E-4	ENSG00000101365	ENST00000380843;ENST00000435594	T	0.57273	0.41	4.74	3.8	0.43715	Isopropylmalate dehydrogenase-like domain (2);	0.120606	0.56097	D	0.000021	T	0.63355	0.2504	M	0.93939	3.475	0.80722	D	1	B;P	0.38280	0.354;0.625	B;B	0.39027	0.169;0.288	T	0.71300	-0.4634	10	0.87932	D	0	-1.5054	10.6754	0.45783	0.0935:0.0:0.9065:0.0	.	207;359	O43837-3;O43837	.;IDH3B_HUMAN	W	359;207	ENSP00000370223:R359W	ENSP00000370223:R359W	R	-	1	2	IDH3B	2587480	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	6.217000	0.72218	1.230000	0.43646	-0.237000	0.12165	CGG		0.547	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077613.1			4	60	0	0	0	1	0	4	60				
IRAK2	3656	broad.mit.edu	37	3	10264445	10264445	+	Missense_Mutation	SNP	C	C	T	rs371881199		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr3:10264445C>T	ENST00000256458.4	+	9	1229	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	380	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						ACGTCAGCCGCGTATCTGCCA	0.532																																						ENST00000256458.4																			0				breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(1138-1140)gCg>gTg		interleukin-1 receptor-associated kinase 2		C	VAL/ALA	0,4406		0,0,2203	130.0	127.0	128.0		1139	5.1	0.1	3		128	1,8599	1.2+/-3.3	0,1,4299	no	missense	IRAK2	NM_001570.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	380/626	10264445	1,13005	2203	4300	6503	SO:0001583	missense	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10264445C>T	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.1139C>T	3.37:g.10264445C>T	ENSP00000256458:p.Ala380Val						p.A380V	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN			9	1229	+			380			Protein kinase.		B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	c.1139C>T	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573473	0.45902	0.0	1.16E-4	ENSG00000134070	ENST00000256458	T	0.65916	-0.18	5.14	5.14	0.70334	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.128357	0.35179	N	0.003399	T	0.74366	0.3707	L	0.60455	1.87	0.24989	N	0.991549	D	0.76494	0.999	D	0.68192	0.956	T	0.68150	-0.5485	10	0.72032	D	0.01	-17.5491	14.105	0.65083	0.0:1.0:0.0:0.0	.	380	O43187	IRAK2_HUMAN	V	380	ENSP00000256458:A380V	ENSP00000256458:A380V	A	+	2	0	IRAK2	10239445	0.964000	0.33143	0.065000	0.19835	0.008000	0.06430	4.301000	0.59086	2.369000	0.80426	0.655000	0.94253	GCG		0.532	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			6	88	0	0	0	1	0	6	88				
HTR2B	3357	broad.mit.edu	37	2	231973478	231973478	+	Missense_Mutation	SNP	C	C	T	rs146731940	byFrequency	TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr2:231973478C>T	ENST00000258400.3	-	4	1711	c.1199G>A	c.(1198-1200)cGg>cAg	p.R400Q	PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000409643.1_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	400					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	CTTTGTGGCCCGGTAATTGCA	0.423																																					Ovarian(155;1331 1891 12853 14038 34991)	ENST00000258400.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11						c.(1198-1200)cGg>cAg		5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	C	GLN/ARG,,	0,4406		0,0,2203	136.0	135.0	135.0		1199,,	-4.0	0.7	2	dbSNP_134	135	4,8596	3.7+/-12.6	0,4,4296	yes	missense,intron,intron	HTR2B,PSMD1	NM_000867.4,NM_001191037.1,NM_002807.3	43,,	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign,,	400/482,,	231973478	4,13002	2203	4300	6503	SO:0001583	missense	3357				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity	g.chr2:231973478C>T		CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5294	protein-coding gene	gene with protein product		601122	"""5-hydroxytryptamine (serotonin) receptor 2B"""			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.1199G>A	2.37:g.231973478C>T	ENSP00000258400:p.Arg400Gln					PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000488354.1_3'UTR	p.R400Q	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	4	1711	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	400					B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	ENST00000258400.3	37	c.1199G>A	CCDS2483.1	.	.	.	.	.	.	.	.	.	.	C	9.383	1.073630	0.20147	0.0	4.65E-4	ENSG00000135914	ENST00000258400	T	0.37584	1.19	5.9	-3.96	0.04106	.	0.892341	0.10073	N	0.719475	T	0.26557	0.0649	L	0.33485	1.01	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.27571	-1.0070	10	0.40728	T	0.16	.	14.5838	0.68310	0.0:0.5123:0.0:0.4877	.	215;400	B3VRC5;P41595	.;5HT2B_HUMAN	Q	400	ENSP00000258400:R400Q	ENSP00000258400:R400Q	R	-	2	0	HTR2B	231681722	0.000000	0.05858	0.693000	0.30195	0.478000	0.33099	-0.858000	0.04281	-0.413000	0.07507	-0.312000	0.09012	CGG		0.423	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	NM_000867		38	77	0	0	0	1	0	38	77				
GPATCH3	63906	broad.mit.edu	37	1	27226496	27226496	+	Silent	SNP	A	A	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:27226496A>T	ENST00000361720.5	-	1	461	c.438T>A	c.(436-438)ccT>ccA	p.P146P		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	146							nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		ATGCCTCCGTAGGTAGCCGAA	0.567																																						ENST00000361720.5																			0				endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15						c.(436-438)ccT>ccA		G patch domain containing 3							48.0	53.0	51.0					1																	27226496		2203	4300	6503	SO:0001819	synonymous_variant	63906					intracellular	nucleic acid binding	g.chr1:27226496A>T	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.438T>A	1.37:g.27226496A>T							p.P146P	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)	1	461	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	146					Q5JYH2|Q8NDJ2|Q9H9Z3	Silent	SNP	ENST00000361720.5	37	c.438T>A	CCDS290.1																																																																																				0.567	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		13	23	0	0	0	1	0	13	23				
CMIP	80790	broad.mit.edu	37	16	81685842	81685842	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr16:81685842A>C	ENST00000537098.3	+	4	584	c.512A>C	c.(511-513)aAc>aCc	p.N171T	CMIP_ENST00000539778.2_Missense_Mutation_p.N77T|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.N18T	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	171						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						GTGCTGAGTAACCCAAGCCGC	0.483																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(511-513)aAc>aCc		c-Maf inducing protein							63.0	66.0	66.0					16																	81685842		1873	4094	5967	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81685842A>C	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.512A>C	16.37:g.81685842A>C	ENSP00000446100:p.Asn171Thr					CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.N18T|CMIP_ENST00000539778.2_Missense_Mutation_p.N77T	p.N171T	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			4	584	+			137					Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.512A>C	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	A	16.72	3.201107	0.58234	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040	T;T	0.08984	3.03;3.03	5.79	5.79	0.91817	.	0.110413	0.64402	D	0.000015	T	0.08088	0.0202	L	0.29908	0.895	0.53688	D	0.999979	B;B;B	0.29085	0.232;0.232;0.116	B;B;B	0.29353	0.101;0.101;0.011	T	0.36187	-0.9758	10	0.27785	T	0.31	.	14.7065	0.69194	1.0:0.0:0.0:0.0	.	18;77;171	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	T	171;77;77	ENSP00000446100:N171T;ENSP00000440401:N77T	ENSP00000381120:N77T	N	+	2	0	CMIP	80243343	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.482000	0.81143	2.207000	0.71202	0.533000	0.62120	AAC		0.483	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		12	27	0	0	0	1	0	12	27				
TPM3P9	147804	broad.mit.edu	37	19	53945837	53945837	+	RNA	SNP	T	T	C	rs17855120	byFrequency	TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr19:53945837T>C	ENST00000424846.3	+	0	834				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		GGACCAGACTTTGCTTGACCT	0.512													N|||	3618	0.722444	0.5348	0.8084	5008	,	,		13659	0.6012		0.8569	False		,,,				2504	0.9018					ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53945837T>C			19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53945837T>C						TPM3P9_ENST00000424846.3_RNA				Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	55	+									RNA	SNP	ENST00000424846.3	37																																																																																						0.512	TPM3P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347070.1	NR_003148		3	31	0	0	0	1	0	3	31				
NXF1	10482	broad.mit.edu	37	11	62569242	62569242	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr11:62569242T>A	ENST00000532297.1	-	7	1237	c.608A>T	c.(607-609)gAa>gTa	p.E203V	NXF1_ENST00000294172.2_Missense_Mutation_p.E203V|NXF1_ENST00000531709.2_Missense_Mutation_p.E203V|NXF1_ENST00000531131.1_Missense_Mutation_p.E66V|NXF1_ENST00000439713.2_Missense_Mutation_p.E203V			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	203					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGCTTCAGTTCATTCAGTAT	0.488																																						ENST00000531709.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(607-609)gAa>gTa		nuclear RNA export factor 1							193.0	190.0	191.0					11																	62569242		2201	4299	6500	SO:0001583	missense	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62569242T>A	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.608A>T	11.37:g.62569242T>A	ENSP00000436679:p.Glu203Val					NXF1_ENST00000294172.2_Missense_Mutation_p.E203V|NXF1_ENST00000439713.2_Missense_Mutation_p.E203V|NXF1_ENST00000532297.1_Missense_Mutation_p.E203V|NXF1_ENST00000531131.1_5'UTR	p.E203V	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN			6	721	-			203			Interaction with THOC4.		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	c.608A>T	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.741946	0.69418	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.50277	0.8;0.8;0.77;0.75	5.33	5.33	0.75918	.	0.097121	0.64402	D	0.000002	T	0.61489	0.2351	L	0.57536	1.79	0.80722	D	1	D;P;D;B	0.69078	0.996;0.798;0.997;0.265	D;B;D;B	0.72075	0.976;0.29;0.967;0.03	T	0.59193	-0.7500	10	0.31617	T	0.26	-17.9731	11.6945	0.51536	0.0:0.0:0.0:1.0	.	66;246;216;203	B4E227;E9PIN3;Q59E96;Q9UBU9	.;.;.;NXF1_HUMAN	V	203;203;246;203	ENSP00000294172:E203V;ENSP00000436679:E203V;ENSP00000435742:E246V;ENSP00000408864:E203V	ENSP00000294172:E203V	E	-	2	0	NXF1	62325818	1.000000	0.71417	0.985000	0.45067	0.506000	0.33950	6.986000	0.76200	2.026000	0.59711	0.459000	0.35465	GAA		0.488	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		56	86	0	0	0	1	0	56	86				
SLC25A23	79085	broad.mit.edu	37	19	6458224	6458224	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr19:6458224C>G	ENST00000301454.4	-	2	374	c.268G>C	c.(268-270)Gac>Cac	p.D90H	SLC25A23_ENST00000334510.5_Missense_Mutation_p.D90H	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	90	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						TGGTTCCGGTCAAGACTGTGA	0.607																																						ENST00000301454.4																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						c.(268-270)Gac>Cac		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23							55.0	45.0	48.0					19																	6458224		2203	4300	6503	SO:0001583	missense	79085				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr19:6458224C>G	AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"""Solute carriers"", ""EF-hand domain containing"""	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.268G>C	19.37:g.6458224C>G	ENSP00000301454:p.Asp90His					SLC25A23_ENST00000334510.5_Missense_Mutation_p.D90H	p.D90H	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN			2	374	-			90			EF-hand 2.		B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Missense_Mutation	SNP	ENST00000301454.4	37	c.268G>C	CCDS32882.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671601	0.88348	.	.	ENSG00000125648	ENST00000264088;ENST00000301454;ENST00000334510	D;D;D	0.95885	-3.84;-3.84;-3.84	4.53	4.53	0.55603	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98902	0.9628	H	0.99642	4.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99113	1.0847	10	0.87932	D	0	-37.5704	16.0327	0.80593	0.0:1.0:0.0:0.0	.	90	Q9BV35	SCMC3_HUMAN	H	90	ENSP00000264088:D90H;ENSP00000301454:D90H;ENSP00000334537:D90H	ENSP00000264088:D90H	D	-	1	0	SLC25A23	6409224	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	7.020000	0.76419	2.071000	0.62044	0.462000	0.41574	GAC		0.607	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103		10	46	0	0	0	1	0	10	46				
TLR5	7100	broad.mit.edu	37	1	223285928	223285928	+	Missense_Mutation	SNP	C	C	T	rs372708351		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:223285928C>T	ENST00000540964.1	-	4	907	c.446G>A	c.(445-447)cGc>cAc	p.R149H	TLR5_ENST00000342210.6_Missense_Mutation_p.R149H			O60602	TLR5_HUMAN	toll-like receptor 5	149					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TAGATCCAAGCGAGTTAAAGC	0.368													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20349	0.0		0.0	False		,,,				2504	0.0					ENST00000540964.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(445-447)cGc>cAc		toll-like receptor 5		C	HIS/ARG	0,4406		0,0,2203	73.0	73.0	73.0		446	0.8	1.0	1		73	1,8599	1.2+/-3.3	0,1,4299	no	missense	TLR5	NM_003268.5	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	149/859	223285928	1,13005	2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285928C>T		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.446G>A	1.37:g.223285928C>T	ENSP00000440643:p.Arg149His					TLR5_ENST00000342210.6_Missense_Mutation_p.R149H	p.R149H			O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	907	-			149					B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.446G>A	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	C	9.660	1.143808	0.21205	0.0	1.16E-4	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.56776	0.44;0.44;0.44	5.03	0.795	0.18643	.	1.095890	0.06776	N	0.784336	T	0.38108	0.1028	L	0.35249	1.045	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.24154	-1.0168	10	0.27785	T	0.31	.	4.4921	0.11819	0.1493:0.3984:0.0:0.4523	.	149	O60602	TLR5_HUMAN	H	149	ENSP00000440643:R149H;ENSP00000355846:R149H;ENSP00000340089:R149H	ENSP00000340089:R149H	R	-	2	0	TLR5	221352551	0.000000	0.05858	0.958000	0.39756	0.926000	0.56050	-0.350000	0.07721	0.253000	0.21552	0.655000	0.94253	CGC		0.368	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		25	53	0	0	0	1	0	25	53				
MCTP1	79772	broad.mit.edu	37	5	94046594	94046594	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr5:94046594G>T	ENST00000515393.1	-	21	2758	c.2759C>A	c.(2758-2760)gCc>gAc	p.A920D	MCTP1_ENST00000505078.1_Missense_Mutation_p.A436D|MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000312216.8_Missense_Mutation_p.A699D|MCTP1_ENST00000429576.2_Missense_Mutation_p.A613D|ANKRD32_ENST00000493934.1_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	920					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GGCTACAATGGCCAGCCAGCT	0.433																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.(2758-2760)gCc>gAc		multiple C2 domains, transmembrane 1							94.0	80.0	85.0					5																	94046594		2203	4300	6503	SO:0001583	missense	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94046594G>T		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2759C>A	5.37:g.94046594G>T	ENSP00000424126:p.Ala920Asp					MCTP1_ENST00000514040.1_5'UTR|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000505078.1_Missense_Mutation_p.A436D|MCTP1_ENST00000429576.2_Missense_Mutation_p.A613D|MCTP1_ENST00000312216.8_Missense_Mutation_p.A699D	p.A920D	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	21	2758	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	920					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	c.2759C>A	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865172	0.91511	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509	T;T;T;T;T	0.79554	-1.28;-1.04;-0.23;-1.17;-0.97	5.79	5.79	0.91817	Phosphoribosyltransferase C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91005	0.7171	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.997;0.984	D	0.91227	0.5011	10	0.66056	D	0.02	-12.065	20.0411	0.97590	0.0:0.0:1.0:0.0	.	920;613;699	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	D	920;613;436;699;640	ENSP00000424126:A920D;ENSP00000391639:A613D;ENSP00000426417:A436D;ENSP00000308957:A699D;ENSP00000423410:A640D	ENSP00000308957:A699D	A	-	2	0	MCTP1	94072350	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.632000	0.83247	2.739000	0.93911	0.655000	0.94253	GCC		0.433	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		12	22	1	0	2.27111e-07	1	2.55111e-07	12	22				
FAM57B	83723	broad.mit.edu	37	16	30036752	30036752	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr16:30036752C>T	ENST00000380495.4	-	5	1308	c.577G>A	c.(577-579)Ggg>Agg	p.G193R	FAM57B_ENST00000564806.1_3'UTR|FAM57B_ENST00000279389.4_Missense_Mutation_p.G143R	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	193	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						ATCAGGGCCCCGTTCACCTTG	0.662																																						ENST00000380495.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(577-579)Ggg>Agg		family with sequence similarity 57, member B							45.0	50.0	48.0					16																	30036752		2197	4300	6497	SO:0001583	missense	83723					endoplasmic reticulum|integral to membrane		g.chr16:30036752C>T	AF370365	CCDS10667.2	16p11.2	2013-02-19			ENSG00000149926	ENSG00000149926			25295	protein-coding gene	gene with protein product		615175				11230166, 23275342	Standard	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	Q71RH2	OTTHUMG00000132105	ENST00000380495.4:c.577G>A	16.37:g.30036752C>T	ENSP00000369863:p.Gly193Arg					FAM57B_ENST00000564806.1_3'UTR|FAM57B_ENST00000279389.4_Missense_Mutation_p.G143R	p.G193R	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN			5	1308	-			193			TLC.		Q9H0J1	Missense_Mutation	SNP	ENST00000380495.4	37	c.577G>A	CCDS10667.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954569	0.92726	.	.	ENSG00000149926	ENST00000380495	D	0.87966	-2.32	4.78	4.78	0.61160	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.94355	0.8185	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95325	0.8424	10	0.66056	D	0.02	-0.1236	16.5745	0.84633	0.0:1.0:0.0:0.0	.	193	Q71RH2	FA57B_HUMAN	R	193	ENSP00000369863:G193R	ENSP00000369863:G193R	G	-	1	0	FAM57B	29944253	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.505000	0.81655	2.185000	0.69588	0.561000	0.74099	GGG		0.662	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255142.2	NM_031478		3	30	0	0	0	1	0	3	30				
SPATA20	64847	broad.mit.edu	37	17	48626526	48626526	+	Silent	SNP	G	G	C			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr17:48626526G>C	ENST00000356488.4	+	5	674	c.591G>C	c.(589-591)gtG>gtC	p.V197V	SPATA20_ENST00000006658.6_Silent_p.V213V|SPATA20_ENST00000393244.3_Silent_p.V153V|SPATA20_ENST00000511937.1_3'UTR	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	197					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TCCGCACAGTGTTGCTGAGAA	0.617																																						ENST00000006658.6																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(637-639)gtG>gtC		spermatogenesis associated 20							52.0	56.0	54.0					17																	48626526		2203	4300	6503	SO:0001819	synonymous_variant	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48626526G>C		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.591G>C	17.37:g.48626526G>C						SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Silent_p.V153V|SPATA20_ENST00000356488.4_Silent_p.V197V	p.V213V	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		6	759	+	Breast(11;1.23e-18)		197					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Silent	SNP	ENST00000356488.4	37	c.639G>C	CCDS58563.1																																																																																				0.617	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		3	75	0	0	0	1	0	3	75				
BCL11B	64919	broad.mit.edu	37	14	99642454	99642454	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr14:99642454G>T	ENST00000357195.3	-	4	728	c.719C>A	c.(718-720)gCg>gAg	p.A240E	BCL11B_ENST00000443726.2_Missense_Mutation_p.A46E|BCL11B_ENST00000345514.2_Missense_Mutation_p.A169E	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	240					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CGTGTTCTGCGCGTGCTGCAG	0.652			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(505-507)gCg>gAg		B-cell CLL/lymphoma 11B (zinc finger protein)							30.0	29.0	29.0					14																	99642454		2201	4297	6498	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99642454G>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.719C>A	14.37:g.99642454G>T	ENSP00000349723:p.Ala240Glu					BCL11B_ENST00000443726.2_Missense_Mutation_p.A46E|BCL11B_ENST00000357195.3_Missense_Mutation_p.A240E	p.A169E	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	772	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	240					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.506C>A	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949440	0.73787	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.22945	1.93;2.12;2.11	4.68	4.68	0.58851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000004	T	0.49660	0.1570	M	0.64170	1.965	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.49890	-0.8891	10	0.51188	T	0.08	-17.6122	17.955	0.89065	0.0:0.0:1.0:0.0	.	169;240	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	E	240;169;46	ENSP00000349723:A240E;ENSP00000280435:A169E;ENSP00000387419:A46E	ENSP00000280435:A169E	A	-	2	0	BCL11B	98712207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.552000	0.67281	2.323000	0.78572	0.655000	0.94253	GCG		0.652	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		6	25	1	0	1.6384e-10	1	1.89224e-10	6	25				
HIPK2	28996	broad.mit.edu	37	7	139416759	139416759	+	Silent	SNP	G	G	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr7:139416759G>A	ENST00000406875.3	-	2	169	c.75C>T	c.(73-75)ttC>ttT	p.F25F	HIPK2_ENST00000428878.2_Silent_p.F25F|HIPK2_ENST00000342645.6_Silent_p.F25F	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	25					adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TCACACTACAGAAGGCACTTG	0.483																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(73-75)ttC>ttT		homeodomain interacting protein kinase 2							66.0	62.0	63.0					7																	139416759		1568	3582	5150	SO:0001819	synonymous_variant	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139416759G>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.75C>T	7.37:g.139416759G>A						HIPK2_ENST00000428878.2_Silent_p.F25F|HIPK2_ENST00000342645.6_Silent_p.F25F	p.F25F	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			2	169	-	Melanoma(164;0.205)		25					Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	ENST00000406875.3	37	c.75C>T																																																																																					0.483	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		7	12	0	0	0	1	0	7	12				
ROBO4	54538	broad.mit.edu	37	11	124755084	124755084	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr11:124755084G>T	ENST00000306534.3	-	17	3339	c.2854C>A	c.(2854-2856)Ccc>Acc	p.P952T	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.P807T	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	952					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TCCCACAGGGGCAGGGAGAGG	0.627																																						ENST00000306534.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(2854-2856)Ccc>Acc		roundabout, axon guidance receptor, homolog 4 (Drosophila)							48.0	51.0	50.0					11																	124755084		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124755084G>T	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2854C>A	11.37:g.124755084G>T	ENSP00000304945:p.Pro952Thr					ROBO4_ENST00000533054.1_Missense_Mutation_p.P807T|RP11-664I21.5_ENST00000524453.1_RNA	p.P952T	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	17	3339	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	952					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.2854C>A	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566701	0.65651	.	.	ENSG00000154133	ENST00000306534;ENST00000533054	T;T	0.66815	-0.23;0.15	5.2	3.31	0.37934	.	0.200695	0.25241	N	0.032089	T	0.53916	0.1826	L	0.43152	1.355	0.29671	N	0.842482	B	0.12630	0.006	B	0.12837	0.008	T	0.50617	-0.8807	10	0.44086	T	0.13	.	6.4126	0.21700	0.0935:0.0:0.7258:0.1807	.	952	Q8WZ75	ROBO4_HUMAN	T	952;807	ENSP00000304945:P952T;ENSP00000437129:P807T	ENSP00000304945:P952T	P	-	1	0	ROBO4	124260294	1.000000	0.71417	0.968000	0.41197	0.940000	0.58332	1.812000	0.38952	0.570000	0.29347	0.655000	0.94253	CCC		0.627	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		28	55	1	0	1.06801e-11	1	1.26923e-11	28	55				
CAMTA1	23261	broad.mit.edu	37	1	7724777	7724777	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:7724777A>T	ENST00000303635.7	+	9	2377	c.2170A>T	c.(2170-2172)Aac>Tac	p.N724Y	CAMTA1_ENST00000439411.2_Missense_Mutation_p.N724Y	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	724					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCCGGAGACCAACGGGGTAAT	0.682			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(2170-2172)Aac>Tac		calmodulin binding transcription activator 1							38.0	47.0	44.0					1																	7724777		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724777A>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2170A>T	1.37:g.7724777A>T	ENSP00000306522:p.Asn724Tyr					CAMTA1_ENST00000439411.2_Missense_Mutation_p.N724Y	p.N724Y	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2377	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	724					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.2170A>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	a	9.300	1.052785	0.19907	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.24908	1.83;1.83	5.43	3.0	0.34707	.	1.145010	0.06354	N	0.710416	T	0.29652	0.0740	L	0.44542	1.39	0.37020	D	0.89614	P	0.39624	0.681	B	0.40782	0.34	T	0.06552	-1.0820	10	0.87932	D	0	-11.5049	12.1227	0.53900	0.7004:0.2996:0.0:0.0	.	724	Q9Y6Y1	CMTA1_HUMAN	Y	724	ENSP00000306522:N724Y;ENSP00000402561:N724Y	ENSP00000306522:N724Y	N	+	1	0	CAMTA1	7647364	0.995000	0.38212	0.046000	0.18839	0.547000	0.35210	2.652000	0.46682	0.320000	0.23234	0.448000	0.29417	AAC		0.682	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		17	61	0	0	0	1	0	17	61				
CMIP	80790	broad.mit.edu	37	16	81685832	81685832	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr16:81685832G>C	ENST00000537098.3	+	4	574	c.502G>C	c.(502-504)Gtg>Ctg	p.V168L	CMIP_ENST00000539778.2_Missense_Mutation_p.V74L|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.V15L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	168						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						ATATAAGAAAGTGCTGAGTAA	0.453																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(502-504)Gtg>Ctg		c-Maf inducing protein							59.0	62.0	61.0					16																	81685832		1869	4094	5963	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81685832G>C	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.502G>C	16.37:g.81685832G>C	ENSP00000446100:p.Val168Leu					CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.V15L|CMIP_ENST00000539778.2_Missense_Mutation_p.V74L	p.V168L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			4	574	+			134					Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.502G>C	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295613	0.60086	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040	T;T;T	0.09073	3.05;3.05;3.02	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000001	T	0.15132	0.0365	N	0.22421	0.69	0.58432	D	0.999999	P;P;B	0.47910	0.902;0.902;0.009	D;D;B	0.64595	0.927;0.927;0.012	T	0.10497	-1.0627	10	0.07813	T	0.8	.	18.2205	0.89899	0.0:0.0:1.0:0.0	.	15;74;168	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	L	168;74;74	ENSP00000446100:V168L;ENSP00000440401:V74L;ENSP00000381120:V74L	ENSP00000381120:V74L	V	+	1	0	CMIP	80243333	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.845000	0.86875	2.733000	0.93635	0.655000	0.94253	GTG		0.453	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		12	27	0	0	0	1	0	12	27				
FRG1B	284802	broad.mit.edu	37	20	29625956	29625956	+	Missense_Mutation	SNP	G	G	A	rs147809085		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr20:29625956G>A	ENST00000278882.3	+	5	580	c.200G>A	c.(199-201)aGa>aAa	p.R67K	FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K|FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	67								p.R67K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTGGACCAAGAGAACAATGG	0.338																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.R67K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(199-201)aGa>aAa																																						SO:0001583	missense	0							g.chr20:29625956G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.200G>A	20.37:g.29625956G>A	ENSP00000278882:p.Arg67Lys					FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K|FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K	p.R67K							5	580	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.200G>A		.	.	.	.	.	.	.	.	.	.	g	9.648	1.140706	0.21205	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.46063	0.88	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	.	.	.	0.46901	D	0.99924	B	0.02656	0.0	B	0.15484	0.013	T	0.07986	-1.0744	9	0.28530	T	0.3	.	9.3557	0.38164	0.0:0.0:1.0:0.0	.	72	F5H5R5	.	K	67;72;67	ENSP00000408863:R72K	ENSP00000278882:R67K	R	+	2	0	FRG1B	28239617	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	6.360000	0.73064	1.250000	0.43966	0.184000	0.17185	AGA		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	106	0	0	0	1	0	4	106				
ZDHHC19	131540	broad.mit.edu	37	3	195925262	195925262	+	Silent	SNP	C	C	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr3:195925262C>T	ENST00000296326.3	-	7	913	c.834G>A	c.(832-834)ccG>ccA	p.P278P		NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	278						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GGTGCAGATTCGGCATGGATG	0.652																																						ENST00000296326.3																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14						c.(832-834)ccG>ccA		zinc finger, DHHC-type containing 19							41.0	46.0	44.0					3																	195925262		2090	4220	6310	SO:0001819	synonymous_variant	131540					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:195925262C>T	BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"""Zinc fingers, DHHC-type"""	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.834G>A	3.37:g.195925262C>T							p.P278P	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)	7	913	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		278					A8MSY6|B3KVI1	Silent	SNP	ENST00000296326.3	37	c.834G>A	CCDS43190.1																																																																																				0.652	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341533.1	NM_144637		6	22	0	0	0	1	0	6	22				
HMGB2	3148	broad.mit.edu	37	4	174253253	174253253	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr4:174253253T>C	ENST00000296503.5	-	5	1481	c.608A>G	c.(607-609)gAa>gGa	p.E203G	HMGB2_ENST00000438704.2_Missense_Mutation_p.E203G|RP11-798M19.3_ENST00000507803.1_RNA|HMGB2_ENST00000446922.2_Missense_Mutation_p.E203G			P26583	HMGB2_HUMAN	high mobility group box 2	203	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		ttcatcctcttcctcctcatc	0.448																																						ENST00000296503.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(607-609)gAa>gGa		high mobility group box 2							389.0	325.0	347.0					4																	174253253		2203	4300	6503	SO:0001583	missense	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174253253T>C		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.608A>G	4.37:g.174253253T>C	ENSP00000296503:p.Glu203Gly					HMGB2_ENST00000438704.2_Missense_Mutation_p.E203G|HMGB2_ENST00000446922.2_Missense_Mutation_p.E203G	p.E203G			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	5	1481	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	203			Asp/Glu-rich (acidic).		B2R4K8|D3DP37|Q5U072	Missense_Mutation	SNP	ENST00000296503.5	37	c.608A>G	CCDS3816.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.458031	0.43634	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704	D;D;D	0.95205	-3.64;-3.64;-3.64	5.9	4.71	0.59529	.	0.000000	0.56097	D	0.000026	D	0.86628	0.5978	N	0.08118	0	0.45403	D	0.998389	B	0.02656	0.0	B	0.01281	0.0	T	0.80770	-0.1234	10	0.42905	T	0.14	.	10.9263	0.47193	0.0:0.0744:0.0:0.9256	.	203	P26583	HMGB2_HUMAN	G	203	ENSP00000296503:E203G;ENSP00000393448:E203G;ENSP00000404912:E203G	ENSP00000296503:E203G	E	-	2	0	HMGB2	174489828	1.000000	0.71417	0.998000	0.56505	0.310000	0.27922	6.029000	0.70895	1.049000	0.40321	0.528000	0.53228	GAA		0.448	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		8	167	0	0	0	1	0	8	167				
GRIN2B	2904	broad.mit.edu	37	12	13724776	13724776	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr12:13724776C>A	ENST00000609686.1	-	10	2342	c.2133G>T	c.(2131-2133)caG>caT	p.Q711H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	711					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTACACCCCTCTGGTTGAACT	0.463																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2131-2133)caG>caT		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						261.0	222.0	235.0					12																	13724776		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13724776C>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2133G>T	12.37:g.13724776C>A	ENSP00000477455:p.Gln711His						p.Q711H	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			10	2342	-			711					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2133G>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128555	0.77549	.	.	ENSG00000150086	ENST00000279593	T	0.51071	0.72	5.73	4.83	0.62350	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.66694	0.2815	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70457	-0.4866	10	0.87932	D	0	.	11.3314	0.49479	0.0:0.8524:0.0:0.1476	.	711	Q13224	NMDE2_HUMAN	H	711	ENSP00000279593:Q711H	ENSP00000279593:Q711H	Q	-	3	2	GRIN2B	13616043	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.011000	0.57124	1.529000	0.49120	0.655000	0.94253	CAG		0.463	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			4	127	1	0	0.000602214	1	0.00061727	4	127				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.S372S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	72	0	0	0	1	0	4	72				
PPP6R2	9701	broad.mit.edu	37	22	50875995	50875995	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr22:50875995A>G	ENST00000216061.5	+	17	2114	c.1744A>G	c.(1744-1746)Aat>Gat	p.N582D	PPP6R2_ENST00000395744.3_Missense_Mutation_p.N555D|PPP6R2_ENST00000359139.3_Missense_Mutation_p.N555D|PPP6R2_ENST00000395741.3_Missense_Mutation_p.N556D			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	582						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GTTTGGCTTCAATGATGAGGA	0.597																																						ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(1663-1665)Aat>Gat		protein phosphatase 6, regulatory subunit 2							133.0	109.0	117.0					22																	50875995		2203	4300	6503	SO:0001583	missense	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50875995A>G	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.1744A>G	22.37:g.50875995A>G	ENSP00000216061:p.Asn582Asp					PPP6R2_ENST00000216061.5_Missense_Mutation_p.N582D|PPP6R2_ENST00000395741.3_Missense_Mutation_p.N556D|PPP6R2_ENST00000395744.3_Missense_Mutation_p.N555D	p.N555D	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			15	2057	+			582					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	ENST00000216061.5	37	c.1663A>G		.	.	.	.	.	.	.	.	.	.	A	27.6	4.847255	0.91277	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.37584	1.22;1.22;1.22;1.19	5.13	5.13	0.70059	.	0.044760	0.85682	D	0.000000	T	0.55593	0.1930	M	0.72118	2.19	0.52099	D	0.999942	D;D;D;P;D;P	0.61080	0.989;0.981;0.968;0.701;0.981;0.701	P;P;P;P;P;P	0.61275	0.713;0.886;0.773;0.474;0.886;0.474	T	0.59643	-0.7416	10	0.59425	D	0.04	-17.4329	13.92	0.63926	1.0:0.0:0.0:0.0	.	114;582;582;556;555;555	F2Z3M7;O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;.;PP6R2_HUMAN;.;.;.	D	555;556;555;582	ENSP00000352051:N555D;ENSP00000379090:N556D;ENSP00000379093:N555D;ENSP00000216061:N582D	ENSP00000216061:N582D	N	+	1	0	PPP6R2	49222861	1.000000	0.71417	0.972000	0.41901	0.861000	0.49209	9.085000	0.94083	1.939000	0.56221	0.379000	0.24179	AAT		0.597	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		17	25	0	0	0	1	0	17	25				
KIF6	221458	broad.mit.edu	37	6	39581087	39581087	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr6:39581087T>C	ENST00000287152.7	-	6	611	c.517A>G	c.(517-519)Aca>Gca	p.T173A	KIF6_ENST00000373216.3_Missense_Mutation_p.T173A|KIF6_ENST00000538893.1_Missense_Mutation_p.T173A|KIF6_ENST00000373215.3_Missense_Mutation_p.T173A|KIF6_ENST00000373213.4_Missense_Mutation_p.T12A	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	173	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCCAGTATTGTCACTTTCCTA	0.398																																						ENST00000287152.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(517-519)Aca>Gca		kinesin family member 6							96.0	92.0	93.0					6																	39581087		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39581087T>C	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.517A>G	6.37:g.39581087T>C	ENSP00000287152:p.Thr173Ala					KIF6_ENST00000373213.4_Missense_Mutation_p.T12A|KIF6_ENST00000373216.3_Missense_Mutation_p.T173A|KIF6_ENST00000538893.1_Missense_Mutation_p.T173A|KIF6_ENST00000373215.3_Missense_Mutation_p.T173A	p.T173A	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			6	611	-			173			Kinesin-motor.		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.517A>G	CCDS4844.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.93|12.93	2.086570|2.086570	0.36855|0.36855	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893|ENST00000458470	T;T;T;T;T|.	0.74421|.	-0.84;-0.84;-0.84;-0.84;-0.84|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Kinesin, motor domain (4);|.	.|.	.|.	.|.	.|.	T|.	0.32436|.	0.0829|.	N|N	0.12853|0.12853	0.265|0.265	0.80722|0.80722	D|D	1|1	B;B;P|.	0.34724|.	0.281;0.069;0.465|.	B;B;B|.	0.40659|.	0.175;0.062;0.336|.	T|.	0.31110|.	-0.9955|.	9|.	0.24483|.	T|.	0.36|.	.|.	15.2016|15.2016	0.73142|0.73142	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	173;173;173|.	E7EUN7;F6VGH2;Q6ZMV9|.	.;.;KIF6_HUMAN|.	A|W	173;173;12;173;173|64	ENSP00000287152:T173A;ENSP00000362312:T173A;ENSP00000362309:T12A;ENSP00000362311:T173A;ENSP00000441435:T173A|.	ENSP00000287152:T173A|.	T|X	-|-	1|3	0|0	KIF6|KIF6	39689065|39689065	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.954000|3.954000	0.56708|0.56708	2.134000|2.134000	0.65973|0.65973	0.528000|0.528000	0.53228|0.53228	ACA|TGA		0.398	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		28	66	0	0	0	1	0	28	66				
GPBP1L1	60313	broad.mit.edu	37	1	46120919	46120919	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:46120919G>A	ENST00000290795.3	-	4	1354	c.133C>T	c.(133-135)Cgt>Tgt	p.R45C	GPBP1L1_ENST00000355105.3_Missense_Mutation_p.R45C			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	45					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TTATGTCGACGGCGGCTTACT	0.453																																						ENST00000355105.3																		GPBP1L1/MAST2_ENST00000361297(2)	0				breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21						c.(133-135)Cgt>Tgt		GC-rich promoter binding protein 1-like 1							140.0	139.0	140.0					1																	46120919		2203	4300	6503	SO:0001583	missense	60313				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:46120919G>A		CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.133C>T	1.37:g.46120919G>A	ENSP00000290795:p.Arg45Cys					GPBP1L1_ENST00000290795.3_Missense_Mutation_p.R45C	p.R45C	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN			5	1493	-	Acute lymphoblastic leukemia(166;0.155)		45					D3DQ10|Q9H751	Missense_Mutation	SNP	ENST00000290795.3	37	c.133C>T	CCDS528.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696899	0.88830	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	T;T	0.53857	0.6;0.6	6.04	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.61198	0.2328	M	0.69823	2.125	0.54753	D	0.999989	D	0.69078	0.997	P	0.53861	0.736	T	0.65788	-0.6083	10	0.87932	D	0	-15.9643	8.3409	0.32243	0.0763:0.0:0.6723:0.2514	.	45	Q9HC44	GPBL1_HUMAN	C	45	ENSP00000290795:R45C;ENSP00000347224:R45C	ENSP00000290795:R45C	R	-	1	0	GPBP1L1	45893506	1.000000	0.71417	0.865000	0.33974	0.981000	0.71138	5.379000	0.66196	1.571000	0.49722	0.563000	0.77884	CGT		0.453	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639		61	71	0	0	0	1	0	61	71				
CDK12	51755	broad.mit.edu	37	17	37650848	37650848	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr17:37650848G>A	ENST00000447079.4	+	5	2353	c.2320G>A	c.(2320-2322)Gaa>Aaa	p.E774K	CDK12_ENST00000430627.2_Missense_Mutation_p.E774K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	774	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						AGCCATTCGTGAAATCAAAAT	0.398			"""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.(2320-2322)Gaa>Aaa		cyclin-dependent kinase 12							82.0	72.0	75.0					17																	37650848		2203	4300	6503	SO:0001583	missense	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.chr17:37650848G>A	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.2320G>A	17.37:g.37650848G>A	ENSP00000398880:p.Glu774Lys	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.E774K	p.E774K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			5	2353	+			774			Protein kinase.		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.2320G>A	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006655	0.93287	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	D;D	0.84873	-1.91;-1.91	5.23	5.23	0.72850	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000136	D	0.95033	0.8392	H	0.95679	3.705	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.996;0.994	D	0.96236	0.9172	10	0.87932	D	0	-15.0206	19.1644	0.93548	0.0:0.0:1.0:0.0	.	773;774;774	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	K	774	ENSP00000407720:E774K;ENSP00000398880:E774K	ENSP00000407720:E774K	E	+	1	0	CDK12	34904374	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	9.813000	0.99286	2.601000	0.87937	0.561000	0.74099	GAA		0.398	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		12	21	0	0	0	1	0	12	21				
SNTG1	54212	broad.mit.edu	37	8	51314884	51314884	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr8:51314884G>A	ENST00000522124.1	+	4	803	c.142G>A	c.(142-144)Ggt>Agt	p.G48S	SNTG1_ENST00000276467.5_Missense_Mutation_p.G48S|SNTG1_ENST00000517473.1_Missense_Mutation_p.G48S|SNTG1_ENST00000518864.1_Missense_Mutation_p.G48S	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	48					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ATGTGTGTCTGGTGAGCCTTT	0.378																																						ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.(142-144)Ggt>Agt		syntrophin, gamma 1							250.0	245.0	247.0					8																	51314884		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51314884G>A	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.142G>A	8.37:g.51314884G>A	ENSP00000429842:p.Gly48Ser					SNTG1_ENST00000518864.1_Missense_Mutation_p.G48S|SNTG1_ENST00000517473.1_Missense_Mutation_p.G48S|SNTG1_ENST00000276467.5_Missense_Mutation_p.G48S	p.G48S	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			4	803	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	48					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.142G>A	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728722	0.89390	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000523085;ENST00000276467	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	4.96	4.96	0.65561	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.58481	0.2125	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	T	0.55224	-0.8174	10	0.14656	T	0.56	.	17.204	0.86913	0.0:0.0:1.0:0.0	.	48;48	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	S	48	ENSP00000429276:G48S;ENSP00000429842:G48S;ENSP00000431123:G48S;ENSP00000429363:G48S;ENSP00000276467:G48S	ENSP00000276467:G48S	G	+	1	0	SNTG1	51477437	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.701000	0.91331	2.314000	0.78098	0.655000	0.94253	GGT		0.378	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			57	89	0	0	0	1	0	57	89				
XYLT1	64131	broad.mit.edu	37	16	17292238	17292238	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr16:17292238C>T	ENST00000261381.6	-	5	1204	c.1120G>A	c.(1120-1122)Gtc>Atc	p.V374I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	374					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGCCTGGAGACCTGGAGCACT	0.587																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1120-1122)Gtc>Atc		xylosyltransferase I							78.0	60.0	66.0					16																	17292238		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17292238C>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1120G>A	16.37:g.17292238C>T	ENSP00000261381:p.Val374Ile						p.V374I	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			5	1204	-			374					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.1120G>A	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062381	0.36373	.	.	ENSG00000103489	ENST00000261381	T	0.10668	2.85	5.35	1.66	0.24008	.	0.290733	0.40908	D	0.000987	T	0.06096	0.0158	N	0.17631	0.505	0.27375	N	0.955571	B	0.15141	0.012	B	0.06405	0.002	T	0.35847	-0.9772	10	0.27082	T	0.32	-7.6204	7.7762	0.29039	0.5961:0.2761:0.0:0.1277	.	374	Q86Y38	XYLT1_HUMAN	I	374	ENSP00000261381:V374I	ENSP00000261381:V374I	V	-	1	0	XYLT1	17199739	0.981000	0.34729	0.931000	0.37212	0.804000	0.45430	0.352000	0.20113	0.003000	0.14656	-0.266000	0.10368	GTC		0.587	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		3	34	0	0	0	1	0	3	34				
FAM122A	116224	broad.mit.edu	37	9	71395528	71395528	+	Missense_Mutation	SNP	C	C	G	rs146421193		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr9:71395528C>G	ENST00000394264.3	+	1	565	c.448C>G	c.(448-450)Cgg>Ggg	p.R150G	PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	150										endometrium(1)|lung(2)	3						GTCACCCACTCGGGGAATTGG	0.532																																						ENST00000394264.3																			0				endometrium(1)|lung(2)	3						c.(448-450)Cgg>Ggg		family with sequence similarity 122A							115.0	108.0	111.0					9																	71395528		2203	4300	6503	SO:0001583	missense	116224							g.chr9:71395528C>G	AK126379	CCDS6623.1	9q21.13	2011-02-10	2006-07-11	2006-07-11	ENSG00000187866	ENSG00000187866			23490	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 42"""	C9orf42		12477932	Standard	NM_138333		Approved	MGC17347	uc004agw.1	Q96E09	OTTHUMG00000019971	ENST00000394264.3:c.448C>G	9.37:g.71395528C>G	ENSP00000377807:p.Arg150Gly					PIP5K1B_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_Intron	p.R150G	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN			1	565	+			150						Missense_Mutation	SNP	ENST00000394264.3	37	c.448C>G	CCDS6623.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750812	0.49257	.	.	ENSG00000187866	ENST00000394264;ENST00000377279	.	.	.	4.42	3.52	0.40303	.	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	M	0.79805	2.47	0.36104	D	0.844311	D	0.67145	0.996	D	0.76575	0.988	T	0.78339	-0.2242	9	0.49607	T	0.09	-33.3491	8.671	0.34149	0.0:0.8978:0.0:0.1022	.	150	Q96E09	F122A_HUMAN	G	150;134	.	ENSP00000366492:R134G	R	+	1	2	FAM122A	70585348	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.371000	0.59523	1.470000	0.48102	0.563000	0.77884	CGG		0.532	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052556.1	NM_138333		39	32	0	0	0	1	0	39	32				
CPS1	1373	broad.mit.edu	37	2	211504743	211504743	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr2:211504743C>G	ENST00000233072.5	+	24	3115	c.2919C>G	c.(2917-2919)gaC>gaG	p.D973E	CPS1_ENST00000451903.2_Missense_Mutation_p.D522E|CPS1_ENST00000430249.2_Missense_Mutation_p.D979E|CPS1_ENST00000497121.1_3'UTR	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	973					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	ATTTTGATGACCATGGAATGA	0.308																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(2917-2919)gaC>gaG		carbamoyl-phosphate synthase 1, mitochondrial							144.0	139.0	141.0					2																	211504743		2203	4298	6501	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211504743C>G	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2919C>G	2.37:g.211504743C>G	ENSP00000233072:p.Asp973Glu					CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000451903.2_Missense_Mutation_p.D522E|CPS1_ENST00000430249.2_Missense_Mutation_p.D979E	p.D973E	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	24	3115	+			973					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2919C>G	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792718	0.31685	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97256	-4.31;-4.31;-4.31	5.42	-10.8	0.00216	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);	0.087489	0.85682	N	0.000000	D	0.84866	0.5567	N	0.05414	-0.055	0.28674	N	0.905475	B;B	0.11235	0.004;0.001	B;B	0.12837	0.008;0.008	T	0.76650	-0.2881	10	0.22706	T	0.39	-3.2282	2.0095	0.03485	0.3198:0.2091:0.0753:0.3958	.	983;973	Q59HF8;P31327	.;CPSM_HUMAN	E	979;981;973;522	ENSP00000402608:D979E;ENSP00000233072:D973E;ENSP00000406136:D522E	ENSP00000233072:D973E	D	+	3	2	CPS1	211212988	0.639000	0.27234	0.201000	0.23476	0.993000	0.82548	-0.136000	0.10405	-2.720000	0.00389	-0.136000	0.14681	GAC		0.308	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			37	62	0	0	0	1	0	37	62				
SETBP1	26040	broad.mit.edu	37	18	42532187	42532187	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr18:42532187T>G	ENST00000282030.5	+	4	3178	c.2882T>G	c.(2881-2883)aTc>aGc	p.I961S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	961						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAGGAGCTAATCACCAAGTTC	0.478									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(2881-2883)aTc>aGc		SET binding protein 1							80.0	78.0	79.0					18																	42532187		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42532187T>G	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2882T>G	18.37:g.42532187T>G	ENSP00000282030:p.Ile961Ser						p.I961S	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	3178	+			961					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.2882T>G	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	T	16.99	3.273356	0.59649	.	.	ENSG00000152217	ENST00000282030	D	0.91295	-2.82	5.91	5.91	0.95273	.	0.054006	0.64402	D	0.000001	D	0.91549	0.7331	N	0.24115	0.695	0.44275	D	0.997139	D	0.76494	0.999	D	0.67382	0.951	D	0.93006	0.6427	10	0.87932	D	0	.	16.3512	0.83208	0.0:0.0:0.0:1.0	.	961	Q9Y6X0	SETBP_HUMAN	S	961	ENSP00000282030:I961S	ENSP00000282030:I961S	I	+	2	0	SETBP1	40786185	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.013000	0.88655	2.266000	0.75297	0.533000	0.62120	ATC		0.478	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		36	49	0	0	0	1	0	36	49				
XPO7	23039	broad.mit.edu	37	8	21832266	21832266	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr8:21832266C>A	ENST00000252512.9	+	6	678	c.578C>A	c.(577-579)tCc>tAc	p.S193Y	XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000434536.1_Missense_Mutation_p.S202Y|XPO7_ENST00000433566.4_Missense_Mutation_p.S194Y	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	193					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TTCACACTTTCCTGCAATTTA	0.378																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(604-606)tCc>tAc		exportin 7							118.0	104.0	108.0					8																	21832266		1861	4083	5944	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21832266C>A	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.578C>A	8.37:g.21832266C>A	ENSP00000252512:p.Ser193Tyr					XPO7_ENST00000433566.4_Missense_Mutation_p.S194Y|XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000252512.9_Missense_Mutation_p.S193Y	p.S202Y			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	6	707	+			193					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.605C>A	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847583	0.91277	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.66815	-0.23;-0.23;-0.23	5.89	5.89	0.94794	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84088	0.5395	M	0.85859	2.78	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.996	D;D;D	0.67231	0.95;0.91;0.91	D	0.85628	0.1268	10	0.87932	D	0	-14.0051	19.8616	0.96786	0.0:1.0:0.0:0.0	.	194;202;193	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	Y	202;193;194	ENSP00000404853:S202Y;ENSP00000252512:S193Y;ENSP00000410249:S194Y	ENSP00000252512:S193Y	S	+	2	0	XPO7	21888212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.796000	0.96246	0.650000	0.86243	TCC		0.378	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		3	5	1	0	0.150653	1	0.150653	3	5				
ECE1	1889	broad.mit.edu	37	1	21548284	21548284	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:21548284G>C	ENST00000374893.6	-	18	2166	c.2092C>G	c.(2092-2094)Ctg>Gtg	p.L698V	ECE1_ENST00000357071.4_Missense_Mutation_p.L686V|ECE1_ENST00000415912.2_Missense_Mutation_p.L682V|ECE1_ENST00000264205.6_Missense_Mutation_p.L695V|ECE1_ENST00000436918.2_Intron	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	698					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GTGAGGCCCAGGGTGGGGAGC	0.537																																						ENST00000415912.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25						c.(2044-2046)Ctg>Gtg		endothelin converting enzyme 1							208.0	204.0	205.0					1																	21548284		2203	4300	6503	SO:0001583	missense	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21548284G>C	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.2092C>G	1.37:g.21548284G>C	ENSP00000364028:p.Leu698Val					ECE1_ENST00000374893.6_Missense_Mutation_p.L698V|ECE1_ENST00000357071.4_Missense_Mutation_p.L686V|ECE1_ENST00000436918.2_Intron|ECE1_ENST00000264205.6_Missense_Mutation_p.L695V	p.L682V	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	18	2169	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	698					A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	c.2044C>G	CCDS215.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588284	0.28357	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000264205	D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91	5.53	4.61	0.57282	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.070932	0.64402	D	0.000015	D	0.86184	0.5872	L	0.35542	1.07	0.58432	D	0.999992	B;B;B;B	0.20052	0.041;0.011;0.033;0.033	B;B;B;B	0.30572	0.117;0.066;0.071;0.071	T	0.78283	-0.2264	10	0.14252	T	0.57	-20.0193	9.2789	0.37716	0.0787:0.1436:0.7777:0.0	.	682;698;686;695	Q2Z2K8;P42892;P42892-2;P42892-4	.;ECE1_HUMAN;.;.	V	682;686;698;695	ENSP00000405088:L682V;ENSP00000349581:L686V;ENSP00000364028:L698V;ENSP00000264205:L695V	ENSP00000264205:L695V	L	-	1	2	ECE1	21420871	0.998000	0.40836	1.000000	0.80357	0.798000	0.45092	2.594000	0.46189	2.604000	0.88044	0.557000	0.71058	CTG		0.537	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		8	215	0	0	0	1	0	8	215				
GABRB1	2560	broad.mit.edu	37	4	47405709	47405709	+	Silent	SNP	T	T	G			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr4:47405709T>G	ENST00000295454.3	+	7	1108	c.816T>G	c.(814-816)tcT>tcG	p.S272S	GABRB1_ENST00000538619.1_Silent_p.S202S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	272					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGATGCATCTGCAGCCAGAG	0.388																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(814-816)tcT>tcG		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						115.0	110.0	111.0					4																	47405709		2203	4300	6503	SO:0001819	synonymous_variant	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47405709T>G		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.816T>G	4.37:g.47405709T>G						GABRB1_ENST00000538619.1_Silent_p.S202S	p.S272S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			7	1108	+			272					B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	c.816T>G	CCDS3474.1																																																																																				0.388	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			34	68	0	0	0	1	0	34	68				
SSBP2	23635	broad.mit.edu	37	5	80809507	80809507	+	Silent	SNP	T	T	G			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr5:80809507T>G	ENST00000320672.4	-	5	522	c.312A>C	c.(310-312)ctA>ctC	p.L104L	SSBP2_ENST00000514493.1_Intron|SSBP2_ENST00000509053.1_Intron|SSBP2_ENST00000515395.1_Intron|SSBP2_ENST00000505980.1_Silent_p.L104L	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	104	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		GAATGTTTCCTAGCACTGGAC	0.448																																						ENST00000320672.4																		SSBP2/JAK2(4)	0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(310-312)ctA>ctC		single-stranded DNA binding protein 2							107.0	103.0	105.0					5																	80809507		2203	4300	6503	SO:0001819	synonymous_variant	23635				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding	g.chr5:80809507T>G	AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"""single-stranded DNA-binding protein 2"""			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.312A>C	5.37:g.80809507T>G						SSBP2_ENST00000514493.1_Intron|SSBP2_ENST00000505980.1_Silent_p.L104L|SSBP2_ENST00000515395.1_Intron|SSBP2_ENST00000509053.1_Intron	p.L104L	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)	5	522	-		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)	104			Pro-rich.		B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Silent	SNP	ENST00000320672.4	37	c.312A>C	CCDS4056.1																																																																																				0.448	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239249.1	NM_012446		64	67	0	0	0	1	0	64	67				
CCDC28B	79140	broad.mit.edu	37	1	32669948	32669948	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:32669948G>A	ENST00000373602.5	+	4	840	c.493G>A	c.(493-495)Gct>Act	p.A165T	CCDC28B_ENST00000483009.1_Intron|RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000537469.1_5'Flank|CCDC28B_ENST00000421922.2_Missense_Mutation_p.A165T|IQCC_ENST00000291358.6_5'Flank	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	165					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GAAGACAATGGCTGACCGTAA	0.567																																						ENST00000421922.2																			0				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(493-495)Gct>Act		coiled-coil domain containing 28B							127.0	121.0	123.0					1																	32669948		2203	4300	6503	SO:0001583	missense	79140							g.chr1:32669948G>A	BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.493G>A	1.37:g.32669948G>A	ENSP00000362704:p.Ala165Thr					CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Missense_Mutation_p.A165T	p.A165T			Q9BUN5	CC28B_HUMAN			4	593	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	165					A8K789|Q8TBV8	Missense_Mutation	SNP	ENST00000373602.5	37	c.493G>A	CCDS354.2	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137939	0.56936	.	.	ENSG00000160050	ENST00000373602;ENST00000421922	T;T	0.49139	0.86;0.79	4.74	3.82	0.43975	.	0.114274	0.64402	D	0.000012	T	0.50718	0.1632	L	0.47716	1.5	0.47245	D	0.999368	D	0.53312	0.959	P	0.50590	0.645	T	0.56408	-0.7984	10	0.72032	D	0.01	-12.6082	13.5776	0.61883	0.0758:0.0:0.9242:0.0	.	165	Q9BUN5	CC28B_HUMAN	T	165	ENSP00000362704:A165T;ENSP00000413017:A165T	ENSP00000362704:A165T	A	+	1	0	CCDC28B	32442535	1.000000	0.71417	0.479000	0.27329	0.589000	0.36550	3.064000	0.49986	1.377000	0.46286	0.556000	0.70494	GCT		0.567	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015723.4	NM_024296		10	46	0	0	0	1	0	10	46				
TRMT13	54482	broad.mit.edu	37	1	100598732	100598732	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:100598732C>A	ENST00000370141.2	+	1	14	c.8C>A	c.(7-9)aCc>aAc	p.T3N	TRMT13_ENST00000370139.1_5'Flank|TRMT13_ENST00000370143.1_Missense_Mutation_p.T3N|SASS6_ENST00000462159.1_5'Flank|SASS6_ENST00000287482.5_5'Flank|SASS6_ENST00000535161.1_5'Flank	NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	3					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										ATTATGGCGACCTCCGCGACG	0.552																																						ENST00000370141.2																			0											c.(7-9)aCc>aAc		tRNA methyltransferase 13 homolog (S. cerevisiae)							45.0	49.0	48.0					1																	100598732		2203	4300	6503	SO:0001583	missense	54482							g.chr1:100598732C>A	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.8C>A	1.37:g.100598732C>A	ENSP00000359160:p.Thr3Asn					TRMT13_ENST00000370143.1_Missense_Mutation_p.T3N	p.T3N	NM_019083.2	NP_061956.2					1	14	+								Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.8C>A	CCDS765.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185213	0.38609	.	.	ENSG00000122435	ENST00000370143;ENST00000370141	T;T	0.44482	0.92;0.95	4.93	4.01	0.46588	.	0.432303	0.25119	N	0.032990	T	0.15609	0.0376	N	0.22421	0.69	0.47441	D	0.999428	B;B	0.12013	0.002;0.005	B;B	0.16289	0.003;0.015	T	0.05084	-1.0907	10	0.49607	T	0.09	-1.63	11.9621	0.53015	0.1739:0.8261:0.0:0.0	.	3;3	B4DQS9;Q9NUP7	.;TRM13_HUMAN	N	3	ENSP00000359162:T3N;ENSP00000359160:T3N	ENSP00000359160:T3N	T	+	2	0	CCDC76	100371320	0.001000	0.12720	0.437000	0.26809	0.031000	0.12232	-0.001000	0.12947	1.278000	0.44430	0.650000	0.86243	ACC		0.552	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		3	38	1	0	0.00024832	1	0.00025775	3	38				
RPL10A	4736	broad.mit.edu	37	6	35438405	35438405	+	Missense_Mutation	SNP	G	G	A	rs11553976		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr6:35438405G>A	ENST00000322203.6	+	6	559	c.532G>A	c.(532-534)Gag>Aag	p.E178K	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	178					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						GACAGACGATGAGCTTGTGTA	0.483																																						ENST00000322203.6																			0				breast(1)|large_intestine(2)|ovary(1)	4						c.(532-534)Gag>Aag		ribosomal protein L10a							152.0	136.0	141.0					6																	35438405		2203	4300	6503	SO:0001583	missense	4736				anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr6:35438405G>A	U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"""L ribosomal proteins"""	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.532G>A	6.37:g.35438405G>A	ENSP00000363018:p.Glu178Lys					RPL10A_ENST00000467020.1_3'UTR	p.E178K	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN			6	559	+			178					B2R801|P52859|P53025|Q5TZT6|Q8J013	Missense_Mutation	SNP	ENST00000322203.6	37	c.532G>A	CCDS4806.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687011	0.88639	.	.	ENSG00000198755	ENST00000322203	T	0.45276	0.9	4.67	4.67	0.58626	Ribosomal protein L1, 2-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.40694	0.1127	M	0.76002	2.32	0.80722	D	1	P	0.34522	0.455	B	0.41813	0.367	T	0.45279	-0.9272	10	0.46703	T	0.11	.	16.1695	0.81793	0.0:0.0:1.0:0.0	.	178	P62906	RL10A_HUMAN	K	178	ENSP00000363018:E178K	ENSP00000363018:E178K	E	+	1	0	RPL10A	35546383	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	9.739000	0.98837	2.139000	0.66308	0.561000	0.74099	GAG		0.483	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	NM_007104		28	39	0	0	0	1	0	28	39				
DHPS	1725	broad.mit.edu	37	19	12790632	12790632	+	Silent	SNP	C	C	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr19:12790632C>A	ENST00000210060.7	-	3	612	c.477G>T	c.(475-477)cgG>cgT	p.R159R	CTD-2192J16.26_ENST00000593554.1_lincRNA|DHPS_ENST00000594424.1_Silent_p.R117R|DHPS_ENST00000351660.5_Silent_p.R159R|DHPS_ENST00000599481.1_5'UTR	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	159					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						TCCCGTTCTCCCGGAGCTCCT	0.602																																						ENST00000210060.7																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						c.(475-477)cgG>cgT		deoxyhypusine synthase	Sulfadoxine(DB01299)						82.0	83.0	83.0					19																	12790632		2203	4300	6503	SO:0001819	synonymous_variant	1725				peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding	g.chr19:12790632C>A	U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"""migration-inducing gene 13"""	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.477G>T	19.37:g.12790632C>A						DHPS_ENST00000599481.1_5'UTR|DHPS_ENST00000594424.1_Silent_p.R117R|DHPS_ENST00000351660.5_Silent_p.R159R	p.R159R	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN			3	612	-			159					A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Silent	SNP	ENST00000210060.7	37	c.477G>T	CCDS12276.1																																																																																				0.602	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462708.1	NM_001930		18	56	1	0	8.34094e-07	1	9.24266e-07	18	56				
APOBEC3G	60489	broad.mit.edu	37	22	39477231	39477231	+	Splice_Site	SNP	C	C	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr22:39477231C>T	ENST00000407997.3	+	3	822	c.465C>T	c.(463-465)gaC>gaT	p.D155D	APOBEC3G_ENST00000452957.2_Splice_Site_p.D155D|APOBEC3G_ENST00000461827.1_3'UTR	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	155					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					TGAATTATGACGGTGAGAAGT	0.542																																						ENST00000407997.3																			0				central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12						c.e3+1		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G							71.0	72.0	72.0					22																	39477231		2203	4300	6503	SO:0001630	splice_region_variant	60489							g.chr22:39477231C>T	AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.466+1C>T	22.37:g.39477231C>T						APOBEC3G_ENST00000452957.2_Splice_Site_p.D155_splice|APOBEC3G_ENST00000461827.1_3'UTR	p.D155_splice	NM_021822.3	NP_068594.1					3	822	+	Melanoma(58;0.04)							B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Splice_Site	SNP	ENST00000407997.3	37	c.466_splice	CCDS13984.1																																																																																				0.542	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822	Silent	4	55	0	0	0	1	0	4	55				
TMTC2	160335	broad.mit.edu	37	12	83424606	83424606	+	Silent	SNP	C	C	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr12:83424606C>T	ENST00000321196.3	+	9	2807	c.2100C>T	c.(2098-2100)ttC>ttT	p.F700F	TMTC2_ENST00000549919.1_Silent_p.F694F	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	700					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AAAAGCTCTTCTTGAAGGCTA	0.423																																						ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(2080-2082)ttC>ttT		transmembrane and tetratricopeptide repeat containing 2							196.0	177.0	184.0					12																	83424606		2203	4300	6503	SO:0001819	synonymous_variant	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83424606C>T	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.2100C>T	12.37:g.83424606C>T						TMTC2_ENST00000321196.3_Silent_p.F700F	p.F694F			Q8N394	TMTC2_HUMAN			10	3887	+			700					B2RCU7|Q8N2K8	Silent	SNP	ENST00000321196.3	37	c.2082C>T	CCDS9025.1																																																																																				0.423	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		33	61	0	0	0	1	0	33	61				
PAX3	5077	broad.mit.edu	37	2	223085952	223085952	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr2:223085952G>T	ENST00000350526.4	-	6	1083	c.947C>A	c.(946-948)tCt>tAt	p.S316Y	PAX3_ENST00000392069.2_Missense_Mutation_p.S316Y|PAX3_ENST00000392070.2_Missense_Mutation_p.S316Y|PAX3_ENST00000409551.3_Missense_Mutation_p.S315Y|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000336840.6_Missense_Mutation_p.S316Y|PAX3_ENST00000344493.4_Missense_Mutation_p.S316Y	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	316					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTGGAATAGATGTGGGCTG	0.502			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															ENST00000350526.4				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"""FOXO1A, NCOA1"""		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0				NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(946-948)tCt>tAt		paired box 3							217.0	228.0	224.0					2																	223085952		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223085952G>T		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.947C>A	2.37:g.223085952G>T	ENSP00000343052:p.Ser316Tyr					PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000344493.4_Missense_Mutation_p.S316Y|PAX3_ENST00000409551.3_Missense_Mutation_p.S315Y|PAX3_ENST00000392070.2_Missense_Mutation_p.S316Y|PAX3_ENST00000392069.2_Missense_Mutation_p.S316Y|PAX3_ENST00000336840.6_Missense_Mutation_p.S316Y	p.S316Y	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	1083	-		Renal(207;0.0183)	316					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.947C>A	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882620	0.72410	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000464706;ENST00000555548	D;D;D;D;D;D	0.94828	-3.53;-3.51;-3.53;-3.51;-3.51;-3.52	6.06	6.06	0.98353	.	0.102446	0.64402	D	0.000001	D	0.93471	0.7917	L	0.50333	1.59	0.80722	D	1	B;P;P;P;P	0.45078	0.027;0.638;0.631;0.549;0.85	B;B;B;B;B	0.41619	0.03;0.178;0.165;0.361;0.246	D	0.93599	0.6928	10	0.72032	D	0.01	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	316;315;316;316;316	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	Y	316;316;316;316;316;315;33;33	ENSP00000375921:S316Y;ENSP00000342092:S316Y;ENSP00000343052:S316Y;ENSP00000375922:S316Y;ENSP00000338767:S316Y;ENSP00000386750:S315Y	ENSP00000338767:S316Y	S	-	2	0	PAX3	222794196	1.000000	0.71417	0.834000	0.33040	0.972000	0.66771	9.414000	0.97362	2.882000	0.98803	0.655000	0.94253	TCT		0.502	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			74	179	1	0	2.80266e-47	1	3.37967e-47	74	179				
GABRG1	2565	broad.mit.edu	37	4	46067500	46067500	+	Silent	SNP	T	T	C			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr4:46067500T>C	ENST00000295452.4	-	4	590	c.423A>G	c.(421-423)ggA>ggG	p.G141G		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	141					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCCAAATTTTTCCAACCATAT	0.343																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(421-423)ggA>ggG		gamma-aminobutyric acid (GABA) A receptor, gamma 1							80.0	80.0	80.0					4																	46067500		2203	4300	6503	SO:0001819	synonymous_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46067500T>C	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.423A>G	4.37:g.46067500T>C							p.G141G	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	4	590	-			141					Q5H9T8	Silent	SNP	ENST00000295452.4	37	c.423A>G	CCDS3470.1																																																																																				0.343	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		21	43	0	0	0	1	0	21	43				
PTBP1	5725	broad.mit.edu	37	19	804112	804112	+	Silent	SNP	G	G	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr19:804112G>T	ENST00000349038.4	+	4	265	c.192G>T	c.(190-192)cgG>cgT	p.R64R	MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000394601.4_Silent_p.R64R|PTBP1_ENST00000356948.6_Silent_p.R64R|PTBP1_ENST00000350092.4_Intron	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	64	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCACATCCGGAAGCTCCCCA	0.562																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(190-192)cgG>cgT		polypyrimidine tract binding protein 1							74.0	68.0	70.0					19																	804112		2203	4300	6503	SO:0001819	synonymous_variant	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:804112G>T	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.192G>T	19.37:g.804112G>T						PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000349038.4_Silent_p.R64R|PTBP1_ENST00000394601.4_Silent_p.R64R	p.R64R	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	615	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	64			RRM 1.		Q9BUQ0	Silent	SNP	ENST00000349038.4	37	c.192G>T	CCDS32859.1																																																																																				0.562	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			5	28	1	0	3.59834e-05	1	3.88242e-05	5	28				
SRGAP1	57522	broad.mit.edu	37	12	64502788	64502788	+	Silent	SNP	G	G	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr12:64502788G>A	ENST00000355086.3	+	16	2414	c.1890G>A	c.(1888-1890)gtG>gtA	p.V630V	SRGAP1_ENST00000357825.3_Silent_p.V607V|SRGAP1_ENST00000543397.1_Silent_p.V567V|RP11-196H14.4_ENST00000535806.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	630	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TCCTTATAGTGATGAGGTACC	0.448																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1888-1890)gtG>gtA		SLIT-ROBO Rho GTPase activating protein 1							141.0	124.0	130.0					12																	64502788		2203	4300	6503	SO:0001819	synonymous_variant	57522				axon guidance	cytosol		g.chr12:64502788G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1890G>A	12.37:g.64502788G>A						SRGAP1_ENST00000543397.1_Silent_p.V567V|RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Silent_p.V607V	p.V630V	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	16	2414	+			630			Rho-GAP.		Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	c.1890G>A	CCDS8967.1																																																																																				0.448	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			49	70	0	0	0	1	0	49	70				
ANKK1	255239	broad.mit.edu	37	11	113265773	113265773	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr11:113265773G>T	ENST00000303941.3	+	3	697	c.603G>T	c.(601-603)aaG>aaT	p.K201N		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	201	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AGAGTAACAAGGCCCCAGGAC	0.587																																						ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(601-603)aaG>aaT		ankyrin repeat and kinase domain containing 1							49.0	50.0	49.0					11																	113265773		2045	4177	6222	SO:0001583	missense	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113265773G>T	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.603G>T	11.37:g.113265773G>T	ENSP00000306678:p.Lys201Asn						p.K201N	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	3	697	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	201			Protein kinase.			Missense_Mutation	SNP	ENST00000303941.3	37	c.603G>T	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478283	0.26511	.	.	ENSG00000170209	ENST00000303941	T	0.35048	1.33	4.04	1.96	0.26148	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.266404	0.25575	U	0.029739	T	0.40886	0.1135	L	0.39692	1.235	0.33423	D	0.580179	D	0.54601	0.967	P	0.60236	0.871	T	0.52749	-0.8534	10	0.62326	D	0.03	-7.5707	6.7181	0.23314	0.3897:0.0:0.6103:0.0	.	201	Q8NFD2	ANKK1_HUMAN	N	201	ENSP00000306678:K201N	ENSP00000306678:K201N	K	+	3	2	ANKK1	112770983	0.000000	0.05858	0.251000	0.24312	0.117000	0.20001	-0.181000	0.09740	0.897000	0.36392	0.305000	0.20034	AAG		0.587	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		4	11	1	0	0.00024832	1	0.00025775	4	11				
TTN	7273	broad.mit.edu	37	2	179455521	179455521	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr2:179455521G>A	ENST00000591111.1	-	254	56232	c.56008C>T	c.(56008-56010)Cga>Tga	p.R18670*	TTN_ENST00000359218.5_Nonsense_Mutation_p.R11371*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R11246*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R17743*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R11438*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R20311*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18670	Fibronectin type-III 35. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTACTTCTCGACGTTCCATA	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(60931-60933)Cga>Tga		titin							106.0	101.0	103.0					2																	179455521		1907	4112	6019	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455521G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56008C>T	2.37:g.179455521G>A	ENSP00000465570:p.Arg18670*					TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R18670*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R11438*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R11371*|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R11246*|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R17743*	p.R20311*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	61155	-			18670			Ig-like 111.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.60931C>T		.	.	.	.	.	.	.	.	.	.	G	61	53.111839	0.99988	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.11	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.6593	0.68858	0.0:0.0:0.7365:0.2635	.	.	.	.	X	17743;11246;11438;11371;11244	.	ENSP00000340554:R11438X	R	-	1	2	TTN	179163767	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.404000	0.52623	1.570000	0.49709	0.655000	0.94253	CGA		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		68	56	0	0	0	1	0	68	56				
CTSO	1519	broad.mit.edu	37	4	156863585	156863585	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr4:156863585A>C	ENST00000433477.3	-	3	337	c.268T>G	c.(268-270)Tcc>Gcc	p.S90A		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	0					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		GGAAACTTGGAAGGTTTGCTT	0.323																																					Pancreas(148;2303 2598 8989 35298)	ENST00000433477.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16						c.(268-270)Tcc>Gcc		cathepsin O							116.0	109.0	111.0					4																	156863585		2203	4300	6503	SO:0001583	missense	1519				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr4:156863585A>C	X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"""Cathepsins"""	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.268T>G	4.37:g.156863585A>C	ENSP00000414904:p.Ser90Ala						p.S90A	NM_001334.2	NP_001325.1	P43234	CATO_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)	3	337	-	all_hematologic(180;0.24)	Renal(120;0.0458)	90					Q6FHS6	Missense_Mutation	SNP	ENST00000433477.3	37	c.268T>G	CCDS3794.1	.	.	.	.	.	.	.	.	.	.	A	7.343	0.621317	0.14193	.	.	ENSG00000256043	ENST00000433477	T	0.29397	1.57	5.52	2.92	0.33932	.	0.503195	0.23098	N	0.051957	T	0.13030	0.0316	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.30563	-0.9974	10	0.07813	T	0.8	.	2.694	0.05129	0.5524:0.1293:0.0694:0.2489	.	90	P43234	CATO_HUMAN	A	90	ENSP00000414904:S90A	ENSP00000281527:S90A	S	-	1	0	CTSO	157083035	0.264000	0.24093	0.030000	0.17652	0.506000	0.33950	0.454000	0.21827	0.330000	0.23485	0.533000	0.62120	TCC		0.323	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1	NM_001334		33	57	0	0	0	1	0	33	57				
UBE3A	7337	broad.mit.edu	37	15	25605555	25605555	+	Silent	SNP	C	C	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr15:25605555C>T	ENST00000397954.2	-	5	1736	c.1737G>A	c.(1735-1737)gtG>gtA	p.V579V	UBE3A_ENST00000438097.1_Silent_p.V556V|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Silent_p.V556V|UBE3A_ENST00000428984.2_Silent_p.V556V|UBE3A_ENST00000232165.3_Silent_p.V576V			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	579					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		AGATTTCCTCCACAACCAGCT	0.343																																						ENST00000232165.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1726-1728)gtG>gtA		ubiquitin protein ligase E3A							115.0	104.0	108.0					15																	25605555		2203	4300	6503	SO:0001819	synonymous_variant	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25605555C>T	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1737G>A	15.37:g.25605555C>T						SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Silent_p.V556V|UBE3A_ENST00000397954.2_Silent_p.V579V|UBE3A_ENST00000438097.1_Silent_p.V556V|UBE3A_ENST00000428984.2_Silent_p.V556V	p.V576V	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	7	2384	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	579					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Silent	SNP	ENST00000397954.2	37	c.1728G>A	CCDS45192.1																																																																																				0.343	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		34	31	0	0	0	1	0	34	31				
BDNF	627	broad.mit.edu	37	11	27680000	27680000	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr11:27680000G>A	ENST00000525528.1	-	1	1205	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	BDNF_ENST00000395981.3_Missense_Mutation_p.R38W|BDNF_ENST00000438929.1_Missense_Mutation_p.R120W|BDNF_ENST00000533131.1_Missense_Mutation_p.R38W|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000395980.2_Missense_Mutation_p.R38W|BDNF_ENST00000525950.1_Missense_Mutation_p.R38W|BDNF_ENST00000420794.1_Missense_Mutation_p.R38W|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000314915.6_Missense_Mutation_p.R46W|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.R38W|BDNF_ENST00000356660.4_Missense_Mutation_p.R38W|BDNF_ENST00000533246.1_Missense_Mutation_p.R38W|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395986.2_Missense_Mutation_p.R53W|BDNF_ENST00000395983.3_Missense_Mutation_p.R38W|BDNF_ENST00000395978.3_Missense_Mutation_p.R38W|BDNF_ENST00000418212.1_Missense_Mutation_p.R38W|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000532997.1_Missense_Mutation_p.R38W|BDNF_ENST00000530861.1_Missense_Mutation_p.R38W|BDNF-AS_ENST00000499568.2_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	38					axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						CCATGGGTCCGCACACCTGGG	0.507																																						ENST00000525528.1																			0				breast(1)|large_intestine(3)|lung(2)	6						c.(112-114)Cgg>Tgg		brain-derived neurotrophic factor							124.0	128.0	127.0					11																	27680000		2202	4299	6501	SO:0001583	missense	627					extracellular region	growth factor activity	g.chr11:27680000G>A	AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"""Endogenous ligands"""	1033	protein-coding gene	gene with protein product	"""neurotrophin"""	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.112C>T	11.37:g.27680000G>A	ENSP00000437138:p.Arg38Trp					BDNF_ENST00000420794.1_Missense_Mutation_p.R38W|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000418212.1_Missense_Mutation_p.R38W|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000438929.1_Missense_Mutation_p.R120W|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000525950.1_Missense_Mutation_p.R38W|BDNF_ENST00000395978.3_Missense_Mutation_p.R38W|BDNF_ENST00000395983.3_Missense_Mutation_p.R38W|BDNF_ENST00000395980.2_Missense_Mutation_p.R38W|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000533246.1_Missense_Mutation_p.R38W|BDNF_ENST00000395986.2_Missense_Mutation_p.R53W|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.R38W|BDNF_ENST00000533131.1_Missense_Mutation_p.R38W|BDNF_ENST00000395981.3_Missense_Mutation_p.R38W|BDNF_ENST00000314915.6_Missense_Mutation_p.R46W|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.R38W|BDNF_ENST00000532997.1_Missense_Mutation_p.R38W|BDNF_ENST00000356660.4_Missense_Mutation_p.R38W|BDNF-AS_ENST00000530313.1_RNA	p.R38W	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN			1	1205	-			38					A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Missense_Mutation	SNP	ENST00000525528.1	37	c.112C>T	CCDS7866.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236059	0.58886	.	.	ENSG00000176697	ENST00000439476;ENST00000525528;ENST00000395986;ENST00000533131;ENST00000356660;ENST00000418212;ENST00000533246;ENST00000530861;ENST00000395983;ENST00000438929;ENST00000395980;ENST00000532997;ENST00000395981;ENST00000395978;ENST00000525950;ENST00000314915;ENST00000420794;ENST00000528035	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	6.16	6.16	0.99307	.	0.131721	0.50627	D	0.000103	T	0.74520	0.3727	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.992;0.992;0.982;0.992	T	0.74210	-0.3739	10	0.87932	D	0	-31.2911	20.8598	0.99761	0.0:0.0:1.0:0.0	.	67;120;46;38;53	P23560-5;P23560-4;P23560-2;P23560;P23560-3	.;.;.;BDNF_HUMAN;.	W	38;38;53;38;38;38;38;38;38;120;38;38;38;38;38;46;38;38	ENSP00000389345:R38W;ENSP00000437138:R38W;ENSP00000379309:R53W;ENSP00000432727:R38W;ENSP00000349084:R38W;ENSP00000400502:R38W;ENSP00000432376:R38W;ENSP00000435564:R38W;ENSP00000379307:R38W;ENSP00000414303:R120W;ENSP00000379304:R38W;ENSP00000435805:R38W;ENSP00000379305:R38W;ENSP00000379302:R38W;ENSP00000432035:R38W;ENSP00000320002:R46W;ENSP00000389564:R38W	ENSP00000320002:R46W	R	-	1	2	BDNF	27636576	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.567000	0.98161	2.937000	0.99478	0.650000	0.86243	CGG		0.507	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	NM_170735		4	104	0	0	0	1	0	4	104				
TMPRSS9	360200	broad.mit.edu	37	19	2410386	2410386	+	Silent	SNP	C	C	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr19:2410386C>A	ENST00000332578.3	+	8	1146	c.1146C>A	c.(1144-1146)tcC>tcA	p.S382S		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	382	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGGACTCCTGCCAGGTGA	0.567																																						ENST00000332578.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1144-1146)tcC>tcA		transmembrane protease, serine 9							64.0	55.0	58.0					19																	2410386		2203	4300	6503	SO:0001819	synonymous_variant	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2410386C>A	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.1146C>A	19.37:g.2410386C>A							p.S382S	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1146	+			382			Peptidase S1 1.		Q6ZND6|Q7Z411	Silent	SNP	ENST00000332578.3	37	c.1146C>A	CCDS12088.1																																																																																				0.567	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		24	22	1	0	5.35356e-11	1	6.27131e-11	24	22				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	73	0	0	0	1	0	3	73				
TRIM10	10107	broad.mit.edu	37	6	30124743	30124743	+	Silent	SNP	G	G	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr6:30124743G>A	ENST00000449742.2	-	5	943	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	TRIM10_ENST00000376704.3_Silent_p.L290L	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	290					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						TCCCTCTGCAGCGGGAGGGCC	0.612																																						ENST00000449742.2																			0				ovary(1)	1						c.(868-870)Ctg>Ttg		tripartite motif containing 10							61.0	68.0	65.0					6																	30124743		1508	2708	4216	SO:0001819	synonymous_variant	10107					cytoplasm	zinc ion binding	g.chr6:30124743G>A	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.868C>T	6.37:g.30124743G>A						TRIM10_ENST00000376704.3_Silent_p.L290L	p.L290L	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN			5	943	-			290					A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Silent	SNP	ENST00000449742.2	37	c.868C>T	CCDS34375.1																																																																																				0.612	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			22	19	0	0	0	1	0	22	19				
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E|GTF3C3_ENST00000470386.1_5'Flank	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468																																						ENST00000263956.3																			1	Substitution - coding silent(1)	p.E103E(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(307-309)gaG>gaA		general transcription factor IIIC, polypeptide 3, 102kDa							65.0	63.0	64.0					2																	197657782		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657782C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.309G>A	2.37:g.197657782C>T						GTF3C3_ENST00000409364.3_Silent_p.E103E	p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	398	-			103			Glu-rich.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.309G>A	CCDS2316.1																																																																																				0.468	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			5	184	0	0	0	1	0	5	184				
MYOM3	127294	broad.mit.edu	37	1	24417440	24417440	+	Missense_Mutation	SNP	C	C	T	rs200218911	byFrequency	TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:24417440C>T	ENST00000374434.3	-	12	1441	c.1279G>A	c.(1279-1281)Gga>Aga	p.G427R	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.G427R|MYOM3_ENST00000330966.7_Missense_Mutation_p.G428R	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	427	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CAAGTCCCTCCGGGGGCCTCA	0.642													C|||	2	0.000399361	0.0008	0.0	5008	,	,		16880	0.0		0.001	False		,,,				2504	0.0					ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(1282-1284)Gga>Aga		myomesin 3		C	ARG/GLY	0,3972		0,0,1986	74.0	81.0	79.0		1279	4.4	1.0	1		79	3,8285		0,3,4141	no	missense	MYOM3	NM_152372.3	125	0,3,6127	TT,TC,CC		0.0362,0.0,0.0245	possibly-damaging	427/1438	24417440	3,12257	1986	4144	6130	SO:0001583	missense	127294							g.chr1:24417440C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1279G>A	1.37:g.24417440C>T	ENSP00000363557:p.Gly427Arg					MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Missense_Mutation_p.G427R|MYOM3_ENST00000329601.7_Missense_Mutation_p.G427R	p.G428R			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	12	1444	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	427			Fibronectin type-III 1.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.1282G>A	CCDS41281.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.85	1.466782	0.26335	0.0	3.62E-4	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.56444	0.46;0.46;0.46	5.3	4.36	0.52297	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.526989	0.22064	N	0.065122	T	0.38401	0.1039	N	0.25144	0.715	0.09310	N	1	B;B;B	0.25563	0.057;0.029;0.129	B;B;B	0.26094	0.066;0.027;0.051	T	0.35525	-0.9785	10	0.62326	D	0.03	.	9.8647	0.41136	0.0:0.8305:0.0:0.1695	.	84;427;427	Q6ZU56;Q5VTT5-2;Q5VTT5	.;.;MYOM3_HUMAN	R	427;428;427	ENSP00000363557:G427R;ENSP00000332670:G428R;ENSP00000328415:G427R	ENSP00000328415:G427R	G	-	1	0	MYOM3	24290027	0.033000	0.19621	0.957000	0.39632	0.967000	0.64934	1.419000	0.34793	1.169000	0.42739	0.563000	0.77884	GGA		0.642	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		22	28	0	0	0	1	0	22	28				
ORC3	23595	broad.mit.edu	37	6	88375537	88375537	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr6:88375537G>A	ENST00000392844.3	+	19	2064	c.2016G>A	c.(2014-2016)atG>atA	p.M672I	ORC3_ENST00000546266.1_Missense_Mutation_p.M529I|ORC3_ENST00000257789.4_Missense_Mutation_p.M673I	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	672					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CAGAAGAAATGAATGAAATTA	0.308																																						ENST00000392844.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						c.(2014-2016)atG>atA		origin recognition complex, subunit 3							55.0	55.0	55.0					6																	88375537		2203	4300	6503	SO:0001583	missense	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88375537G>A	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.2016G>A	6.37:g.88375537G>A	ENSP00000376586:p.Met672Ile					ORC3_ENST00000257789.4_Missense_Mutation_p.M673I|ORC3_ENST00000546266.1_Missense_Mutation_p.M529I	p.M672I	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN			19	2064	+			672					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	ENST00000392844.3	37	c.2016G>A	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	G	2.029	-0.422802	0.04734	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266	T;T;T	0.10668	3.21;3.21;2.85	5.85	2.7	0.31948	.	0.397616	0.31542	N	0.007473	T	0.00936	0.0031	N	0.01505	-0.83	0.28131	N	0.930216	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.48570	-0.9024	10	0.20519	T	0.43	-0.0779	6.4302	0.21792	0.2771:0.0:0.5956:0.1273	.	610;672;673	B4E014;Q9UBD5;Q9UBD5-2	.;ORC3_HUMAN;.	I	672;673;529	ENSP00000376586:M672I;ENSP00000257789:M673I;ENSP00000444695:M529I	ENSP00000257789:M673I	M	+	3	0	ORC3	88432256	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.018000	0.49625	0.827000	0.34685	0.655000	0.94253	ATG		0.308	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2			3	42	0	0	0	1	0	3	42				
GPR98	84059	broad.mit.edu	37	5	89986832	89986832	+	Missense_Mutation	SNP	G	G	A	rs201528839		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr5:89986832G>A	ENST00000405460.2	+	31	7021	c.6925G>A	c.(6925-6927)Gct>Act	p.A2309T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2309	Calx-beta 16. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAGGTCCTGGCTGACGACGT	0.473																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(6925-6927)Gct>Act		G protein-coupled receptor 98		G	THR/ALA	0,3922		0,0,1961	135.0	130.0	132.0		6925	5.1	1.0	5		132	3,8315		0,3,4156	yes	missense	GPR98	NM_032119.3	58	0,3,6117	AA,AG,GG		0.0361,0.0,0.0245	probably-damaging	2309/6307	89986832	3,12237	1961	4159	6120	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89986832G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6925G>A	5.37:g.89986832G>A	ENSP00000384582:p.Ala2309Thr						p.A2309T	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	31	7021	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2309			Calx-beta 16.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.6925G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452764	0.84209	0.0	3.61E-4	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.27557	1.66	5.94	5.07	0.68467	Na-Ca exchanger/integrin-beta4 (1);	0.092905	0.85682	D	0.000000	T	0.43964	0.1271	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.40459	-0.9562	10	0.46703	T	0.11	.	17.2281	0.86977	0.0:0.1258:0.8742:0.0	.	2309	Q8WXG9	GPR98_HUMAN	T	2309	ENSP00000384582:A2309T	ENSP00000296619:A2309T	A	+	1	0	GPR98	90022588	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.497000	0.66924	1.496000	0.48567	0.591000	0.81541	GCT		0.473	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		23	109	0	0	0	1	0	23	109				
NOTCH4	4855	broad.mit.edu	37	6	32188854	32188854	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr6:32188854G>A	ENST00000375023.3	-	4	838	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	234	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGTCCTGCCCGCAGCTCACAA	0.652																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(700-702)Cgg>Tgg		notch 4							58.0	50.0	53.0					6																	32188854		1511	2708	4219	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32188854G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.700C>T	6.37:g.32188854G>A	ENSP00000364163:p.Arg234Trp						p.R234W	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			4	838	-			234			EGF-like 6.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.700C>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993419	0.35131	.	.	ENSG00000204301	ENST00000375023	T	0.12147	2.71	4.74	-0.949	0.10376	Epidermal growth factor-like, type 3 (1);	1.148280	0.06731	N	0.776695	T	0.10551	0.0258	L	0.46819	1.47	0.09310	N	1	D;D	0.71674	0.997;0.998	D;P	0.63192	0.912;0.72	T	0.12451	-1.0547	10	0.72032	D	0.01	.	3.6314	0.08133	0.2855:0.0:0.42:0.2944	.	234;234	Q6P3V5;Q99466	.;NOTC4_HUMAN	W	234	ENSP00000364163:R234W	ENSP00000364163:R234W	R	-	1	2	NOTCH4	32296832	0.001000	0.12720	0.000000	0.03702	0.303000	0.27691	0.999000	0.29757	-0.421000	0.07416	-0.339000	0.08088	CGG		0.652	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			4	54	0	0	0	1	0	4	54				
NSUN5	55695	broad.mit.edu	37	7	72717396	72717396	+	3'UTR	SNP	C	C	G	rs529913367	byFrequency	TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr7:72717396C>G	ENST00000252594.6	-	0	1502				NSUN5_ENST00000310326.8_Nonstop_Mutation_p.*471S|NSUN5_ENST00000428206.1_3'UTR|NSUN5_ENST00000438747.2_3'UTR			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5						rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				AGGAAGGAGTCAGCCCGGAGC	0.592													.|||	12	0.00239617	0.0083	0.0014	5008	,	,		17518	0.0		0.0	False		,,,				2504	0.0					ENST00000310326.8																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(1411-1413)tGa>tCa		NOP2/Sun domain family, member 5							87.0	93.0	90.0					7																	72717396		2203	4300	6503	SO:0001624	3_prime_UTR_variant	55695						methyltransferase activity	g.chr7:72717396C>G	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.*197G>C	7.37:g.72717396C>G						NSUN5_ENST00000438747.2_3'UTR|NSUN5_ENST00000252594.6_3'UTR|NSUN5_ENST00000428206.1_3'UTR	p.*471S			Q96P11	NSUN5_HUMAN			10	1437	-		Lung NSC(55;0.163)	0					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Nonstop_Mutation	SNP	ENST00000252594.6	37	c.1412G>C	CCDS5547.1	.	.	.	.	.	.	.	.	.	.	.	1.331	-0.596816	0.03771	.	.	ENSG00000130305	ENST00000310326	.	.	.	2.66	0.614	0.17603	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.5183	0.07732	0.0:0.5407:0.2885:0.1708	.	.	.	.	S	471	.	.	X	-	2	2	NSUN5	72355332	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.161000	0.16481	0.021000	0.15133	0.436000	0.28706	TGA		0.592	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		4	75	0	0	0	1	0	4	75				
CHRDL1	91851	broad.mit.edu	37	X	109963154	109963154	+	Silent	SNP	C	C	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chrX:109963154C>T	ENST00000372045.1	-	6	560	c.429G>A	c.(427-429)gaG>gaA	p.E143E	CHRDL1_ENST00000218054.4_Silent_p.E149E|CHRDL1_ENST00000444321.2_Silent_p.E149E|CHRDL1_ENST00000372042.1_Silent_p.E150E|CHRDL1_ENST00000394797.4_Silent_p.E149E|CHRDL1_ENST00000434224.1_Intron|CHRDL1_ENST00000482160.1_Intron			Q9BU40	CRDL1_HUMAN	chordin-like 1	143	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ACACGTTTCCCTCCTGCCAAG	0.463																																						ENST00000218054.4																			0				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						c.(445-447)gaG>gaA		chordin-like 1							89.0	75.0	80.0					X																	109963154		2203	4300	6503	SO:0001819	synonymous_variant	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109963154C>T	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.429G>A	X.37:g.109963154C>T						CHRDL1_ENST00000434224.1_Intron|CHRDL1_ENST00000482160.1_Intron|CHRDL1_ENST00000372042.1_Silent_p.E150E|CHRDL1_ENST00000372045.1_Silent_p.E143E|CHRDL1_ENST00000394797.4_Silent_p.E149E|CHRDL1_ENST00000444321.2_Silent_p.E149E	p.E149E	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN			6	643	-			143			VWFC 2.		B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Silent	SNP	ENST00000372045.1	37	c.447G>A																																																																																					0.463	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		22	6	0	0	0	1	0	22	6				
ITGB6	3694	broad.mit.edu	37	2	160964242	160964242	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr2:160964242C>T	ENST00000283249.2	-	14	2453	c.2216G>A	c.(2215-2217)cGt>cAt	p.R739H	ITGB6_ENST00000409967.2_Missense_Mutation_p.R632H|ITGB6_ENST00000428609.2_Missense_Mutation_p.R697H|ITGB6_ENST00000409872.1_Missense_Mutation_p.R739H	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	739	Interaction with HAX1.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AACTTCTTTACGATCATGAAA	0.463																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(2215-2217)cGt>cAt		integrin, beta 6							154.0	146.0	149.0					2																	160964242		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160964242C>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.2216G>A	2.37:g.160964242C>T	ENSP00000283249:p.Arg739His					ITGB6_ENST00000428609.2_Missense_Mutation_p.R697H|ITGB6_ENST00000409872.1_Missense_Mutation_p.R739H|ITGB6_ENST00000409967.2_Missense_Mutation_p.R632H	p.R739H			P18564	ITB6_HUMAN			14	2453	-			739			Interaction with HAX1.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.2216G>A	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907054	0.92107	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79	5.79	5.79	0.91817	Integrin beta subunit, cytoplasmic (2);	0.058628	0.64402	D	0.000003	D	0.96272	0.8784	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74023	0.971;0.982	D	0.96383	0.9283	10	0.87932	D	0	.	20.0411	0.97590	0.0:1.0:0.0:0.0	.	697;739	E9PEE8;P18564	.;ITB6_HUMAN	H	739;697;632;739	ENSP00000283249:R739H;ENSP00000408024:R697H;ENSP00000386828:R632H;ENSP00000386367:R739H	ENSP00000283249:R739H	R	-	2	0	ITGB6	160672488	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.751000	0.55165	2.739000	0.93911	0.655000	0.94253	CGT		0.463	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		7	81	0	0	0	1	0	7	81				
SCN11A	11280	broad.mit.edu	37	3	38924808	38924808	+	Silent	SNP	C	C	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr3:38924808C>A	ENST00000302328.3	-	18	3333	c.3135G>T	c.(3133-3135)ctG>ctT	p.L1045L	SCN11A_ENST00000444237.2_Silent_p.L1045L|SCN11A_ENST00000450244.1_Silent_p.L1045L|SCN11A_ENST00000456224.3_Silent_p.L1007L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1045					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGTTTTCCGCAGGTTCCACC	0.453																																						ENST00000450244.1																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(3133-3135)ctG>ctT		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						118.0	109.0	112.0					3																	38924808		2203	4300	6503	SO:0001819	synonymous_variant	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38924808C>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3135G>T	3.37:g.38924808C>A						SCN11A_ENST00000456224.3_Silent_p.L1007L|SCN11A_ENST00000444237.2_Silent_p.L1045L|SCN11A_ENST00000302328.3_Silent_p.L1045L	p.L1045L			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	18	3333	-			1045					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	c.3135G>T	CCDS33737.1																																																																																				0.453	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		21	38	1	0	5.35047e-06	1	5.84985e-06	21	38				
FAM47A	158724	broad.mit.edu	37	X	34148192	34148192	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chrX:34148192C>A	ENST00000346193.3	-	1	2255	c.2204G>T	c.(2203-2205)gGa>gTa	p.G735V		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	735										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGCAATTGGTCCATAAAGATC	0.423																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(2203-2205)gGa>gTa		family with sequence similarity 47, member A							133.0	128.0	129.0					X																	34148192		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34148192C>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2204G>T	X.37:g.34148192C>A	ENSP00000345029:p.Gly735Val						p.G735V	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	2255	-			735					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.2204G>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836109	0.32421	.	.	ENSG00000185448	ENST00000346193	T	0.25414	1.8	1.17	1.17	0.20885	.	.	.	.	.	T	0.47838	0.1467	M	0.85373	2.75	0.40338	D	0.979	D	0.89917	1.0	D	0.91635	0.999	T	0.50206	-0.8855	9	0.87932	D	0	.	5.3637	0.16101	0.0:1.0:0.0:0.0	.	735	Q5JRC9	FA47A_HUMAN	V	735	ENSP00000345029:G735V	ENSP00000345029:G735V	G	-	2	0	FAM47A	34058113	0.908000	0.30866	0.632000	0.29296	0.084000	0.17831	0.004000	0.13106	0.880000	0.35969	0.544000	0.68410	GGA		0.423	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		9	69	1	0	6.40141e-05	1	6.81709e-05	9	69				
PPAPDC3	84814	broad.mit.edu	37	9	134165681	134165681	+	Silent	SNP	C	C	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr9:134165681C>T	ENST00000372264.3	+	1	601	c.297C>T	c.(295-297)tgC>tgT	p.C99C	PPAPDC3_ENST00000372261.1_Silent_p.C99C	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	99					negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		TGGGGGTGTGCGCTGGCCGGG	0.652																																						ENST00000372264.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(295-297)tgC>tgT		phosphatidic acid phosphatase type 2 domain containing 3							66.0	67.0	66.0					9																	134165681		2203	4300	6503	SO:0001819	synonymous_variant	84814					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity	g.chr9:134165681C>T	AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 67"""	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.297C>T	9.37:g.134165681C>T						PPAPDC3_ENST00000372261.1_Silent_p.C99C	p.C99C	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)	1	601	+	all_hematologic(7;0.0119)		99					Q5T6P0|Q96SS7|Q9BRC3	Silent	SNP	ENST00000372264.3	37	c.297C>T	CCDS6942.1																																																																																				0.652	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		45	54	0	0	0	1	0	45	54				
KIF1A	547	broad.mit.edu	37	2	241689898	241689898	+	Silent	SNP	G	G	A	rs556611351	byFrequency	TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr2:241689898G>A	ENST00000320389.7	-	26	2780	c.2622C>T	c.(2620-2622)agC>agT	p.S874S	KIF1A_ENST00000498729.2_Silent_p.S975S	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	874					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGCCCTTCTCGCTGACGATTG	0.662													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18994	0.0		0.0	False		,,,				2504	0.0					ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(2923-2925)agC>agT		kinesin family member 1A							66.0	75.0	72.0					2																	241689898		2161	4273	6434	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241689898G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2622C>T	2.37:g.241689898G>A						KIF1A_ENST00000320389.7_Silent_p.S874S	p.S975S	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	28	3171	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	874					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.2925C>T	CCDS46561.1																																																																																				0.662	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		11	32	0	0	0	1	0	11	32				
CRYL1	51084	broad.mit.edu	37	13	21006359	21006359	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr13:21006359G>T	ENST00000298248.7	-	5	577	c.515C>A	c.(514-516)aCc>aAc	p.T172N	MIR4499_ENST00000584834.1_RNA|CRYL1_ENST00000480748.1_5'UTR|CRYL1_ENST00000382812.1_Missense_Mutation_p.T150N	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	172					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		CAGGGCGTGGGTTCTGTCCAC	0.587																																						ENST00000382812.1																			0				NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(448-450)aCc>aAc		crystallin, lambda 1							64.0	67.0	66.0					13																	21006359		2031	4169	6200	SO:0001583	missense	51084				fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity	g.chr13:21006359G>T	AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"""crystallin, lamda 1"", ""L-gulonate 3-dehydrogenase"", ""lambda-crystallin homolog"""	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.515C>A	13.37:g.21006359G>T	ENSP00000298248:p.Thr172Asn					CRYL1_ENST00000298248.7_Missense_Mutation_p.T172N|CRYL1_ENST00000480748.1_5'UTR	p.T150N			Q9Y2S2	CRYL1_HUMAN		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)	6	677	-		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)	172					A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Missense_Mutation	SNP	ENST00000298248.7	37	c.449C>A	CCDS41871.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490485	0.64074	.	.	ENSG00000165475	ENST00000298248;ENST00000382812	T;T	0.78003	-1.14;-1.14	5.43	5.43	0.79202	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.204155	0.52532	D	0.000070	D	0.91482	0.7311	M	0.93283	3.4	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.77004	0.984;0.989	D	0.93407	0.6765	10	0.87932	D	0	-32.1522	19.239	0.93875	0.0:0.0:1.0:0.0	.	46;172	B4DWM9;Q9Y2S2	.;CRYL1_HUMAN	N	172;150	ENSP00000298248:T172N;ENSP00000372262:T150N	ENSP00000298248:T172N	T	-	2	0	CRYL1	19904359	1.000000	0.71417	0.980000	0.43619	0.685000	0.39939	6.688000	0.74557	2.533000	0.85409	0.491000	0.48974	ACC		0.587	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044071.1	NM_015974		21	97	1	0	4.35082e-09	1	4.9551e-09	21	97				
WASF3	10810	broad.mit.edu	37	13	27256890	27256890	+	Missense_Mutation	SNP	C	C	T	rs372445710		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr13:27256890C>T	ENST00000335327.5	+	9	1308	c.1130C>T	c.(1129-1131)tCc>tTc	p.S377F	WASF3_ENST00000361042.4_Missense_Mutation_p.S374F	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	377					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)		p.S377F(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TCAGCCAGCTCCACGCACGCA	0.701																																						ENST00000361042.4																			1	Substitution - Missense(1)	p.S377F(1)	skin(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(1120-1122)tCc>tTc		WAS protein family, member 3		C	PHE/SER	0,4406		0,0,2203	103.0	92.0	96.0		1130	3.5	0.0	13		96	1,8599	1.2+/-3.3	0,1,4299	no	missense	WASF3	NM_006646.5	155	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	377/503	27256890	1,13005	2203	4300	6503	SO:0001583	missense	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27256890C>T	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.1130C>T	13.37:g.27256890C>T	ENSP00000335055:p.Ser377Phe					WASF3_ENST00000335327.5_Missense_Mutation_p.S377F	p.S374F			Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	9	1346	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	377					O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	c.1121C>T	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352533	0.24512	0.0	1.16E-4	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.49432	0.78;0.78	5.25	3.49	0.39957	.	0.847069	0.11243	N	0.584446	T	0.43545	0.1252	M	0.65975	2.015	0.36964	D	0.893504	P;B	0.42409	0.779;0.018	B;B	0.37304	0.246;0.05	T	0.45205	-0.9277	10	0.23891	T	0.37	-3.8775	10.0892	0.42436	0.0:0.7766:0.1475:0.0759	.	374;377	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	F	374;377	ENSP00000354325:S374F;ENSP00000335055:S377F	ENSP00000335055:S377F	S	+	2	0	WASF3	26154890	0.040000	0.19996	0.023000	0.16930	0.070000	0.16714	2.256000	0.43231	1.192000	0.43071	0.491000	0.48974	TCC		0.701	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			23	37	0	0	0	1	0	23	37				
KIF1B	23095	broad.mit.edu	37	1	10364565	10364566	+	Intron	INS	-	-	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:10364565_10364566insA	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Frame_Shift_Ins_p.Q1108fs|KIF1B_ENST00000377093.4_Frame_Shift_Ins_p.Q1108fs|KIF1B_ENST00000263934.6_Intron|RN7SL731P_ENST00000584329.1_RNA			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CACTGGAGGTCAGTTAGAGGGC	0.505																																						ENST00000377093.4																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(3322-3324)gttfs		kinesin family member 1B																																				SO:0001627	intron_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10364565_10364566insA	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+7261->A	1.37:g.10364566_10364566dupA						KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Frame_Shift_Ins_p.V1108fs	p.V1108fs	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	21	3475_3476	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	0					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Frame_Shift_Ins	INS	ENST00000377086.1	37	c.3322_3323insA																																																																																					0.505	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			35	29						35	29	---	---	---	---
RP11-435B5.5	0	broad.mit.edu	37	1	143391923	143391924	+	lincRNA	DEL	AT	AT	-			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:143391923_143391924delAT	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							TATTTTGGAGATATATATATAT	0.262																																						ENST00000428624.1																			0																																																			0							g.chr1:143391923_143391924delAT																													1.37:g.143391933_143391934delAT						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	DEL	ENST00000428624.1	37																																																																																						0.262	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			4	9						4	9	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240256589	240256591	+	In_Frame_Del	DEL	GCC	GCC	-	rs372473032		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:240256589_240256591delGCC	ENST00000319653.9	+	1	1410_1412	c.1180_1182delGCC	c.(1180-1182)gccdel	p.A395del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	395					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGCCCCCGCGGCCGCTTCCCTGC	0.719																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(1180-1182)del		formin 2																																				SO:0001651	inframe_deletion	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256589_240256591delGCC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1180_1182delGCC	1.37:g.240256589_240256591delGCC	ENSP00000318884:p.Ala395del						p.A395del	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	1410_1412	+	Ovarian(103;0.127)	all_cancers(173;0.013)	395					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	c.1180_1182delGCC	CCDS31069.2																																																																																				0.719	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		16	21						16	21	---	---	---	---
TNK2	10188	broad.mit.edu	37	3	195595228	195595229	+	Frame_Shift_Ins	INS	-	-	G	rs541695993	byFrequency	TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr3:195595228_195595229insG	ENST00000333602.6	-	12	2512_2513	c.1895_1896insC	c.(1894-1896)ccgfs	p.P632fs	TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs|TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	632	Pro-rich.|Required for interaction with NEDD4. {ECO:0000250}.|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CATAGGCGGGCGGGGGGGGCAG	0.728																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1894-1896)cccfs		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195595228_195595229insG	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1896dupC	3.37:g.195595236_195595236dupG	ENSP00000329425:p.Pro632fs					TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs|TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs	p.P632fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	12	2512_2513	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	632	Missing (in Ref. 4; AAH08884).		Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.		Q6ZMQ0|Q8N6U7|Q96H59	Frame_Shift_Ins	INS	ENST00000333602.6	37	c.1895_1896insC	CCDS33928.1																																																																																				0.728	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		27	33						27	33	---	---	---	---
MCHR2	84539	broad.mit.edu	37	6	100382358	100382358	+	Frame_Shift_Del	DEL	A	A	-	rs200957067		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr6:100382358delA	ENST00000281806.2	-	5	937	c.623delT	c.(622-624)ttcfs	p.F208fs	MCHR2_ENST00000369212.2_Frame_Shift_Del_p.F208fs	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F208fs*5(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGGTAGAGGGAAAAAAAAAGT	0.343																																						ENST00000281806.2																			1	Deletion - Frameshift(1)	p.F208fs*5(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(622-624)tcfs		melanin-concentrating hormone receptor 2			,	6,4258		0,6,2126	84.0	84.0	84.0		,	2.9	1.0	6		86	2,8246		0,2,4122	no	frameshift,frameshift	MCHR2	NM_032503.2,NM_001040179.1	,	0,8,6248	A1A1,A1R,RR		0.0242,0.1407,0.0639	,	,	100382358	8,12504	2203	4297	6500	SO:0001589	frameshift_variant	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100382358delA	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.623delT	6.37:g.100382358delA	ENSP00000281806:p.Phe208fs					MCHR2_ENST00000445970.1_Frame_Shift_Del_p.F208fs|MCHR2_ENST00000369212.1_Frame_Shift_Del_p.F208fs	p.F208fs	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	5	937	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	208					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Frame_Shift_Del	DEL	ENST00000281806.2	37	c.623delT	CCDS5044.1																																																																																				0.343	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		8	173						8	173	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68255450	68255453	+	Frame_Shift_Del	DEL	CTTC	CTTC	-			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr8:68255450_68255453delCTTC	ENST00000262215.3	-	1	459_462	c.70_73delGAAG	c.(70-75)gaagtgfs	p.EV24fs	RP11-7F18.2_ENST00000607397.1_lincRNA	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	24	DCB; DCB:DCB domain and DCB:HUS domain interaction.				endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCCTTCTTCACTTCCTTGTCGGCC	0.623																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(70-75)tgfs		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)																																				SO:0001589	frameshift_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68255450_68255453delCTTC	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.70_73delGAAG	8.37:g.68255450_68255453delCTTC	ENSP00000262215:p.Glu24fs						p.EV24fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		1	459_462	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	24					Q9NV46|Q9UFV2|Q9UNL0	Frame_Shift_Del	DEL	ENST00000262215.3	37	c.70_73delGAAG	CCDS6199.1																																																																																				0.623	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		35	44						35	44	---	---	---	---
EXT1	2131	broad.mit.edu	37	8	118847769	118847781	+	Frame_Shift_Del	DEL	GCATCACAGGGAC	GCATCACAGGGAC	-	rs61753260|rs549241569		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr8:118847769_118847781delGCATCACAGGGAC	ENST00000378204.2	-	3	1872_1884	c.1066_1078delGTCCCTGTGATGC	c.(1066-1080)gtccctgtgatgctcfs	p.VPVML356fs		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	356					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CCATTGCTGAGCATCACAGGGACGCAGGCAGCC	0.479			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"""Mis, N, F, S"""	multiple exostoses type 1 gene			M		"""exostoses, osteosarcoma"""			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38						c.(1066-1080)tcfs		exostosin glycosyltransferase 1																																				SO:0001589	frameshift_variant	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:118847769_118847781delGCATCACAGGGAC	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1066_1078delGTCCCTGTGATGC	8.37:g.118847769_118847781delGCATCACAGGGAC	ENSP00000367446:p.Val356fs						p.VPVML356fs	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		3	1872_1884	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		356					B2R7V2|Q9BVI9	Frame_Shift_Del	DEL	ENST00000378204.2	37	c.1066_1078delGTCCCTGTGATGC	CCDS6324.1																																																																																				0.479	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		7	33						7	33	---	---	---	---
GAD2	2572	broad.mit.edu	37	10	26581461	26581462	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr10:26581461_26581462insA	ENST00000376261.3	+	14	1957_1958	c.1454_1455insA	c.(1453-1458)ataaaafs	p.IK485fs	GAD2_ENST00000259271.3_Frame_Shift_Ins_p.IK485fs	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	485					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TACAACATCATAAAAAACCGAG	0.396																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1453-1455)aaafs		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26581461_26581462insA	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1460dupA	10.37:g.26581467_26581467dupA	ENSP00000365437:p.Ile485fs					GAD2_ENST00000259271.3_Frame_Shift_Ins_p.K485fs	p.K485fs	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			14	1957_1958	+			485					Q9UD87	Frame_Shift_Ins	INS	ENST00000376261.3	37	c.1454_1455insA	CCDS7149.1																																																																																				0.396	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		12	111						12	111	---	---	---	---
CCDC113	29070	broad.mit.edu	37	16	58301442	58301468	+	In_Frame_Del	DEL	AAAAGAGCTACTTGAAAAAATTGAAAA	AAAAGAGCTACTTGAAAAAATTGAAAA	-			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr16:58301442_58301468delAAAAGAGCTACTTGAAAAAATTGAAAA	ENST00000219299.4	+	7	922_948	c.843_869delAAAAGAGCTACTTGAAAAAATTGAAAA	c.(841-870)agaaaagagctacttgaaaaaattgaaaaa>aga	p.KELLEKIEK282del	CCDC113_ENST00000443128.2_In_Frame_Del_p.KELLEKIEK228del	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	282						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						TCTTGCTGAGAAAAGAGCTACTTGAAAAAATTGAAAAAGAAACACTA	0.396																																						ENST00000219299.4																			0				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						c.(841-870)aga>ag		coiled-coil domain containing 113																																				SO:0001651	inframe_deletion	29070					protein complex		g.chr16:58301442_58301468delAAAAGAGCTACTTGAAAAAATTGAAAA	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.843_869delAAAAGAGCTACTTGAAAAAATTGAAAA	16.37:g.58301442_58301468delAAAAGAGCTACTTGAAAAAATTGAAAA	ENSP00000219299:p.Lys282_Lys290del					CCDC113_ENST00000443128.2_In_Frame_Del_p.RKELLEKIEK227del	p.RKELLEKIEK281del	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN			7	922_948	+			281					B2RAQ7|B4DR20|Q9NZX2	In_Frame_Del	DEL	ENST00000219299.4	37	c.843_869delAAAAGAGCTACTTGAAAAAATTGAAAA	CCDS10795.1																																																																																				0.396	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157		27	79						27	79	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37676253	37676254	+	Frame_Shift_Del	DEL	TA	TA	-	rs574842243		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr17:37676253_37676254delTA	ENST00000447079.4	+	11	3041_3042	c.3008_3009delTA	c.(3007-3009)ctafs	p.L1003fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.L1003fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1003	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						ATGCTGACACTAGATCCTAGTA	0.45			"""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.(3007-3009)cfs		cyclin-dependent kinase 12																																				SO:0001589	frameshift_variant	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.chr17:37676253_37676254delTA	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.3008_3009delTA	17.37:g.37676253_37676254delTA	ENSP00000398880:p.Leu1003fs	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Frame_Shift_Del_p.L1003fs	p.L1003fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			11	3041_3042	+			1003			Protein kinase.		A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Del	DEL	ENST00000447079.4	37	c.3008_3009delTA	CCDS11337.1																																																																																				0.450	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		56	91						56	91	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45234690	45234706	+	Frame_Shift_Del	DEL	CAGTTGCTAAAGTTCTG	CAGTTGCTAAAGTTCTG	-	rs113608268|rs147617501|rs143453365		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr17:45234690_45234706delCAGTTGCTAAAGTTCTG	ENST00000066544.3	-	6	613_629	c.520_536delCAGAACTTTAGCAACTG	c.(520-537)cagaactttagcaactgtfs	p.QNFSNC174fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.QNFSNC174fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Frame_Shift_Del_p.QNFSNC113fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.QNFSNC174fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	174					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GTTGGGCAGACAGTTGCTAAAGTTCTGTAAAGATGTG	0.387																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(520-537)tfs		cell division cycle 27																																				SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45234690_45234706delCAGTTGCTAAAGTTCTG	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.520_536delCAGAACTTTAGCAACTG	17.37:g.45234690_45234706delCAGTTGCTAAAGTTCTG	ENSP00000066544:p.Gln174fs					CDC27_ENST00000446365.2_Frame_Shift_Del_p.QNFSNC113fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.QNFSNC174fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.QNFSNC174fs|CDC27_ENST00000528748.1_5'UTR	p.QNFSNC174fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			6	613_629	-			174					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.520_536delCAGAACTTTAGCAACTG	CCDS11509.1																																																																																				0.387	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			9	85						9	85	---	---	---	---
IGLV3-12	28802	broad.mit.edu	37	22	23114749	23114749	+	RNA	DEL	T	T	-	rs74864698|rs377036128	byFrequency	TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr22:23114749delT	ENST00000390313.2	+	0	55									immunoglobulin lambda variable 3-12																		CATCCTCTCCTTTTTTTTTTT	0.498																																						ENST00000390313.2																			0																				7.0	7.0	7.0					22																	23114749		1689	3874	5563			0							g.chr22:23114749delT	Z73658		22q11.2	2012-02-08			ENSG00000211667	ENSG00000211667		"""Immunoglobulins / IGL locus"""	5898	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151233		22.37:g.23114749delT														0	55	+									RNA	DEL	ENST00000390313.2	37																																																																																						0.498	IGLV3-12-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321838.1	NG_000002		7	21						7	21	---	---	---	---
