#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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
MUC17	140453	broad.mit.edu	37	7	100685938	100685938	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr7:100685938G>T	ENST00000306151.4	+	3	11305	c.11241G>T	c.(11239-11241)atG>atT	p.M3747I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3747	Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.M3747I(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTGTCAATGCCCATGGAAA	0.473																																					p.M3747I												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.G11241T	7						.						231.0	219.0	223.0					7																	100685938		2203	4300	6503	100472658	SO:0001583	missense	140453	exon3			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11241G>T	7.37:g.100685938G>T	ENSP00000302716:p.Met3747Ile		100472658	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	0.015	-1.568913	0.00895	.	.	ENSG00000169876	ENST00000306151	T	0.01854	4.6	2.18	-4.37	0.03633	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.09310	N	1	B	0.17852	0.024	B	0.21546	0.035	T	0.44251	-0.9340	9	0.36615	T	0.2	.	1.8825	0.03231	0.2822:0.1252:0.4285:0.164	.	3747	Q685J3	MUC17_HUMAN	I	3747	ENSP00000302716:M3747I	ENSP00000302716:M3747I	M	+	3	0	MUC17	100472658	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.017000	0.03630	-2.879000	0.00320	-2.111000	0.00353	ATG		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
AKR1B15	441282	broad.mit.edu	37	7	134256405	134256405	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr7:134256405G>T	ENST00000457545.2	+	6	745	c.485G>T	c.(484-486)gGa>gTa	p.G162V	AKR1B15_ENST00000423958.1_Missense_Mutation_p.G134V	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	162							oxidoreductase activity (GO:0016491)	p.G134V(1)|p.G134E(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						ATGATCAGTGGAAAAGGAACG	0.418																																					p.G162V												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.G485T	7						.						165.0	172.0	170.0					7																	134256405		2203	4300	6503	133906945	SO:0001583	missense	441282	exon6				CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.485G>T	7.37:g.134256405G>T	ENSP00000389289:p.Gly162Val		133906945	NM_001080538	C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	-	10.08	1.252599	0.22880	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.16073	2.37;2.37	3.04	3.04	0.35103	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.09468	0.0233	N	0.04508	-0.205	0.28335	N	0.92159	B;B	0.25563	0.066;0.129	B;B	0.25987	0.039;0.065	T	0.19289	-1.0310	9	0.87932	D	0	.	11.9075	0.52721	0.0:0.0:1.0:0.0	.	134;162	C9JRZ8-2;C9JRZ8	.;AK1BF_HUMAN	V	162;134	ENSP00000389289:G162V;ENSP00000397009:G134V	ENSP00000397009:G134V	G	+	2	0	AKR1B15	133906945	0.026000	0.19158	0.006000	0.13384	0.068000	0.16541	2.016000	0.40971	1.685000	0.51034	0.405000	0.27470	GGA		0.418	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2		
AGK	55750	broad.mit.edu	37	7	141333742	141333742	+	Silent	SNP	A	A	G			TCGA-AG-A01W-01	TCGA-AG-A01W-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr7:141333742A>G	ENST00000355413.4	+	10	890	c.630A>G	c.(628-630)cgA>cgG	p.R210R	AGK_ENST00000535825.1_Silent_p.R207R|AGK_ENST00000473247.1_Silent_p.R182R	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	210					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.R210R(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CCGGCCTTCGATGGGGATCTT	0.363																																					p.R210R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A630G	7						.						121.0	122.0	122.0					7																	141333742		2203	4300	6503	140980211	SO:0001819	synonymous_variant	55750	exon10			BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.630A>G	7.37:g.141333742A>G			140980211	NM_018238	Q75KN1|Q96GC3|Q9NP48	Silent	SNP	ENST00000355413.4	37	CCDS5865.1																																																																																				0.363	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238	
EPDR1	54749	broad.mit.edu	37	7	37988628	37988628	+	Silent	SNP	G	G	A	rs200760284	byFrequency	TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr7:37988628G>A	ENST00000199448.4	+	2	835	c.456G>A	c.(454-456)tcG>tcA	p.S152S	EPDR1_ENST00000559325.1_Silent_p.S272S|EPDR1_ENST00000425345.1_Silent_p.S91S|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000476620.1_Silent_p.S50S	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	152					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)	p.S272S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGGAGTGGTCGGACAGAAAGT	0.488													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18199	0.0		0.0	False		,,,				2504	0.0				p.S272S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G816A	7						.	G		0,4406		0,0,2203	66.0	67.0	67.0		816	-10.5	0.0	7		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EPDR1	NM_017549.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		272/345	37988628	1,13005	2203	4300	6503	37955153	SO:0001819	synonymous_variant	54749	exon2			BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.456G>A	7.37:g.37988628G>A			37955153	NM_017549	A8K4C0|C9JYS3|Q06BL0|Q99M77	Silent	SNP	ENST00000199448.4	37	CCDS5454.2																																																																																				0.488	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549	
PCLO	27445	broad.mit.edu	37	7	82582364	82582364	+	Silent	SNP	T	T	G			TCGA-AG-A01W-01	TCGA-AG-A01W-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr7:82582364T>G	ENST00000333891.9	-	5	8242	c.7905A>C	c.(7903-7905)tcA>tcC	p.S2635S	PCLO_ENST00000423517.2_Silent_p.S2635S|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S2635S(4)|p.S2566S(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGTCTGTTCTGAAGAAATTG	0.463																																					p.S2635S												.	.	6	Substitution - coding silent(6)	large_intestine(3)|lung(3)	c.A7905C	7						.						90.0	87.0	88.0					7																	82582364		1870	4110	5980	82420300	SO:0001819	synonymous_variant	27445	exon5			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7905A>C	7.37:g.82582364T>G			82420300	NM_033026		Silent	SNP	ENST00000333891.9	37	CCDS47630.1																																																																																				0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
ZNF804B	219578	broad.mit.edu	37	7	88964180	88964180	+	Silent	SNP	T	T	C			TCGA-AG-A01W-01	TCGA-AG-A01W-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr7:88964180T>C	ENST00000333190.4	+	4	2493	c.1884T>C	c.(1882-1884)ccT>ccC	p.P628P		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	628							metal ion binding (GO:0046872)	p.P628P(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TATCTTTTCCTTCCTACATCT	0.388										HNSCC(36;0.09)																											p.P628P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1884C	7						.						80.0	84.0	82.0					7																	88964180		2203	4300	6503	88802116	SO:0001819	synonymous_variant	219578	exon4			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1884T>C	7.37:g.88964180T>C			88802116	NM_181646	B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	CCDS5613.1																																																																																				0.388	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
SSPO	23145	broad.mit.edu	37	7	149477053	149477053	+	RNA	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr7:149477053C>T	ENST00000378016.2	+	0	1230							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCAGGTTTCCCCTGCTGAGT	0.587																																					p.P411L												.	.	0			c.C1232T	7						.						46.0	46.0	46.0					7																	149477053		2038	4170	6208	149107986			23145	exon10			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149477053C>T			149107986	NM_198455	Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																					0.587	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
WDR86	349136	broad.mit.edu	37	7	151093140	151093140	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AG-A01W-01	TCGA-AG-A01W-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr7:151093140delC	ENST00000334493.6	-	3	878	c.448delG	c.(448-450)gacfs	p.D150fs	WDR86_ENST00000477459.1_Frame_Shift_Del_p.D22fs|WDR86_ENST00000469830.2_Frame_Shift_Del_p.D150fs|WDR86_ENST00000463000.1_5'Flank	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	150								p.D22fs*18(1)		breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGGGAGGTCCCACGGGGCA	0.706																																					p.D150fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.448delG	7						.						14.0	16.0	15.0					7																	151093140		2197	4293	6490	150724073	SO:0001589	frameshift_variant	349136	exon3			AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"""WD repeat domain containing"""	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.448delG	7.37:g.151093140delC	ENSP00000335522:p.Asp150fs		150724073	NM_198285	B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Frame_Shift_Del	DEL	ENST00000334493.6	37	CCDS5925.2																																																																																				0.706	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	NM_198285	
CHD6	84181	broad.mit.edu	37	20	40112024	40112024	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr20:40112024C>T	ENST00000373233.3	-	16	2570	c.2393G>A	c.(2392-2394)gGt>gAt	p.G798D	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	798	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.G798D(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTGTGGCCACCTGCAATCAG	0.507																																					p.G798D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2393A	20						.						124.0	112.0	116.0					20																	40112024		2203	4300	6503	39545438	SO:0001583	missense	84181	exon16			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2393G>A	20.37:g.40112024C>T	ENSP00000362330:p.Gly798Asp		39545438	NM_032221	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036935	0.93630	.	.	ENSG00000124177	ENST00000373233	T	0.75154	-0.91	5.76	5.76	0.90799	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000005	T	0.70325	0.3211	N	0.11284	0.12	0.80722	D	1	P	0.45768	0.866	P	0.51101	0.659	T	0.74520	-0.3638	10	0.56958	D	0.05	-17.3927	20.3242	0.98691	0.0:1.0:0.0:0.0	.	798	Q8TD26	CHD6_HUMAN	D	798	ENSP00000362330:G798D	ENSP00000362330:G798D	G	-	2	0	CHD6	39545438	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	7.750000	0.85110	2.882000	0.98803	0.655000	0.94253	GGT		0.507	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
CASS4	57091	broad.mit.edu	37	20	55012468	55012468	+	Silent	SNP	G	G	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr20:55012468G>A	ENST00000360314.3	+	3	510	c.285G>A	c.(283-285)gaG>gaA	p.E95E	CASS4_ENST00000371336.3_Silent_p.E95E|CASS4_ENST00000434344.1_Silent_p.E95E	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	95					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.E95E(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCAGCTCAGAGGAGACCTATC	0.662																																					p.E95E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G285A	20						.						34.0	38.0	36.0					20																	55012468		2203	4300	6503	54445875	SO:0001819	synonymous_variant	57091	exon2			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.285G>A	20.37:g.55012468G>A			54445875	NM_020356	E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Silent	SNP	ENST00000360314.3	37	CCDS33492.1																																																																																				0.662	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356	
MIS18BP1	55320	broad.mit.edu	37	14	45693420	45693420	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr14:45693420T>A	ENST00000310806.4	-	11	2828	c.2370A>T	c.(2368-2370)aaA>aaT	p.K790N		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	790					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K790N(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CTGCTTTGGTTTTCTTAACTT	0.368																																					p.K790N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2370T	14						.						164.0	159.0	161.0					14																	45693420		2203	4300	6503	44763170	SO:0001583	missense	55320	exon11			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2370A>T	14.37:g.45693420T>A	ENSP00000309790:p.Lys790Asn		44763170	NM_018353	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.307676	0.23821	.	.	ENSG00000129534	ENST00000310806	T	0.24723	1.84	5.72	4.56	0.56223	.	0.460721	0.23991	N	0.042572	T	0.31513	0.0799	L	0.59436	1.845	0.09310	N	1	D	0.59767	0.986	P	0.48304	0.573	T	0.17137	-1.0379	10	0.59425	D	0.04	-7.1591	10.1302	0.42674	0.0:0.0:0.1681:0.8319	.	790	Q6P0N0	M18BP_HUMAN	N	790	ENSP00000309790:K790N	ENSP00000309790:K790N	K	-	3	2	MIS18BP1	44763170	0.280000	0.24249	0.033000	0.17914	0.008000	0.06430	1.417000	0.34770	1.082000	0.41137	-0.316000	0.08728	AAA		0.368	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2		
MDGA2	161357	broad.mit.edu	37	14	47426715	47426715	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A01W-01	TCGA-AG-A01W-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr14:47426715A>C	ENST00000399232.2	-	9	2108	c.1744T>G	c.(1744-1746)Tta>Gta	p.L582V	MDGA2_ENST00000426342.1_Missense_Mutation_p.L353V|SNORA25_ENST00000515926.1_RNA|MDGA2_ENST00000357362.3_Missense_Mutation_p.L353V|MDGA2_ENST00000439988.3_Missense_Mutation_p.L651V	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	582	Ig-like 6.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.L353V(1)|p.L651V(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTCCGTAATAATTTATTGCCC	0.443																																					p.L353V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1057G	14						.						96.0	97.0	96.0					14																	47426715		1947	4148	6095	46496465	SO:0001583	missense	161357	exon9			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1744T>G	14.37:g.47426715A>C	ENSP00000382178:p.Leu582Val		46496465	NM_182830	F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37		.	.	.	.	.	.	.	.	.	.	A	16.75	3.210774	0.58343	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	5.54	3.2	0.36748	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40385	U	0.001110	T	0.18923	0.0454	L	0.60455	1.87	0.80722	D	1	P;P	0.41710	0.76;0.689	P;P	0.51657	0.622;0.676	T	0.10870	-1.0611	10	0.08837	T	0.75	.	7.6936	0.28581	0.7717:0.0:0.2283:0.0	.	353;582	F6W3S7;Q7Z553	.;MDGA2_HUMAN	V	582;353;651;353	ENSP00000400011:L582V;ENSP00000405456:L353V;ENSP00000382178:L651V;ENSP00000349925:L353V	ENSP00000349925:L353V	L	-	1	2	MDGA2	46496465	0.935000	0.31712	0.977000	0.42913	0.994000	0.84299	1.065000	0.30592	0.923000	0.37045	0.528000	0.53228	TTA		0.443	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830	
ZBTB1	22890	broad.mit.edu	37	14	64990173	64990173	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr14:64990173C>T	ENST00000554015.1	+	4	2382	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	ZBTB1_ENST00000394712.2_Missense_Mutation_p.R651W|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000358738.3_Intron			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	651					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R651W(1)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		TGACCATGTACGGCATATGAT	0.428																																					p.R651W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1951T	14						.						186.0	142.0	155.0					14																	64990173		692	1591	2283	64059926	SO:0001583	missense	22890	exon2			AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.1951C>T	14.37:g.64990173C>T	ENSP00000451000:p.Arg651Trp		64059926	NM_001123329	A8K6S8|Q86SW8	Missense_Mutation	SNP	ENST00000554015.1	37	CCDS45126.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121061	0.56613	.	.	ENSG00000126804	ENST00000554015;ENST00000394712	T;T	0.31510	1.49;1.49	5.47	4.57	0.56435	Zinc finger, C2H2-like (1);	1.514670	0.06157	U	0.675328	T	0.53270	0.1786	M	0.80332	2.49	0.58432	D	0.999991	D	0.76494	0.999	P	0.51918	0.684	T	0.45086	-0.9285	9	.	.	.	-8.9417	15.5226	0.75875	0.1392:0.8608:0.0:0.0	.	651	Q9Y2K1	ZBTB1_HUMAN	W	651	ENSP00000451000:R651W;ENSP00000378201:R651W	.	R	+	1	2	ZBTB1	64059926	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.699000	0.68310	1.272000	0.44329	0.650000	0.86243	CGG		0.428	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1		
SERPINA3	12	broad.mit.edu	37	14	95081101	95081101	+	Missense_Mutation	SNP	C	C	T	rs375245228		TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr14:95081101C>T	ENST00000467132.1	+	2	1471	c.323C>T	c.(322-324)aCg>aTg	p.T108M	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.T108M|SERPINA3_ENST00000482740.1_5'Flank|SERPINA3_ENST00000393080.4_Missense_Mutation_p.T108M			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	108					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T108M(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TTCAACCTCACGGAGACTTCT	0.552																																					p.T108M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C323T	14						.	C	MET/THR	0,4406		0,0,2203	64.0	66.0	65.0		323	3.1	0.7	14		65	4,8596	3.7+/-12.6	0,4,4296	no	missense	SERPINA3	NM_001085.4	81	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	108/424	95081101	4,13002	2203	4300	6503	94150854	SO:0001583	missense	12	exon2			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.323C>T	14.37:g.95081101C>T	ENSP00000450540:p.Thr108Met		94150854	NM_001085	B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235029	0.39498	0.0	4.65E-4	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	5.03	3.07	0.35406	Serpin domain (3);	0.164548	0.41396	N	0.000884	D	0.93086	0.7799	M	0.83692	2.655	0.28931	N	0.891554	D;P	0.63880	0.993;0.912	D;P	0.67548	0.952;0.542	D	0.87687	0.2551	10	0.87932	D	0	.	8.7412	0.34558	0.1496:0.7705:0.0:0.08	.	108;133	P01011;G3V5I3	AACT_HUMAN;.	M	133;108;108;108;108	ENSP00000452367:T133M;ENSP00000376793:T108M;ENSP00000376795:T108M;ENSP00000450540:T108M	ENSP00000376793:T108M	T	+	2	0	SERPINA3	94150854	0.051000	0.20477	0.696000	0.30242	0.124000	0.20399	1.399000	0.34566	1.235000	0.43724	0.561000	0.74099	ACG		0.552	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085	
AHNAK2	113146	broad.mit.edu	37	14	105418844	105418844	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr14:105418844C>T	ENST00000333244.5	-	7	3063	c.2944G>A	c.(2944-2946)Ggg>Agg	p.G982R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	982						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.G982R(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GACAGGTCCCCCTCCAGCCAC	0.617																																					p.G982R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2944A	14						.						211.0	238.0	229.0					14																	105418844		2043	4190	6233	104489889	SO:0001583	missense	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2944G>A	14.37:g.105418844C>T	ENSP00000353114:p.Gly982Arg		104489889	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	14.63	2.594017	0.46214	.	.	ENSG00000185567	ENST00000333244	T	0.01584	4.75	3.58	2.67	0.31697	.	.	.	.	.	T	0.07413	0.0187	M	0.73217	2.22	0.09310	N	1	D	0.71674	0.998	D	0.70935	0.971	T	0.26087	-1.0113	9	0.23302	T	0.38	.	10.6887	0.45858	0.0:0.8042:0.1958:0.0	.	982	Q8IVF2	AHNK2_HUMAN	R	982	ENSP00000353114:G982R	ENSP00000353114:G982R	G	-	1	0	AHNAK2	104489889	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	0.851000	0.27751	0.463000	0.27118	0.313000	0.20887	GGG		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
XKR3	150165	broad.mit.edu	37	22	17264597	17264597	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A01W-01	TCGA-AG-A01W-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr22:17264597T>C	ENST00000331428.5	-	4	1394	c.1292A>G	c.(1291-1293)aAg>aGg	p.K431R		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	431						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K431R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ATTTTTATTCTTTTCAGTTTT	0.363																																					p.K431R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1292G	22						.						15.0	15.0	15.0					22																	17264597		344	1095	1439	15644597	SO:0001583	missense	150165	exon4			AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.1292A>G	22.37:g.17264597T>C	ENSP00000331704:p.Lys431Arg		15644597	NM_175878	B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	ENST00000331428.5	37	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	5.033	0.191713	0.09547	.	.	ENSG00000172967	ENST00000331428	T	0.61510	0.1	0.762	-0.49	0.12049	.	1.462770	0.04749	U	0.424173	T	0.30696	0.0773	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.06405	0.002	T	0.10382	-1.0632	10	0.12430	T	0.62	.	2.8139	0.05450	0.0:0.3684:0.0:0.6316	.	431	Q5GH77	XKR3_HUMAN	R	431	ENSP00000331704:K431R	ENSP00000331704:K431R	K	-	2	0	XKR3	15644597	0.785000	0.28726	0.022000	0.16811	0.341000	0.28922	0.167000	0.16602	-0.170000	0.10816	0.240000	0.17902	AAG		0.363	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878	
SLC5A4	6527	broad.mit.edu	37	22	32625241	32625241	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A01W-01	TCGA-AG-A01W-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr22:32625241A>G	ENST00000266086.4	-	11	1231	c.1220T>C	c.(1219-1221)aTt>aCt	p.I407T	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	407					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.I407T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTAGAGGTCAATGGTGAAGAG	0.572																																					p.I407T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1220C	22						.						156.0	149.0	151.0					22																	32625241		2203	4300	6503	30955241	SO:0001583	missense	6527	exon11			U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1220T>C	22.37:g.32625241A>G	ENSP00000266086:p.Ile407Thr		30955241	NM_014227	O15279	Missense_Mutation	SNP	ENST00000266086.4	37	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	A	12.83	2.056650	0.36277	.	.	ENSG00000100191	ENST00000266086	D	0.87412	-2.25	4.55	3.51	0.40186	.	0.266926	0.52532	D	0.000072	D	0.89945	0.6862	M	0.72894	2.215	0.34742	D	0.730857	B	0.22276	0.067	P	0.45794	0.493	D	0.90898	0.4766	10	0.87932	D	0	.	8.4846	0.33063	0.9053:0.0:0.0947:0.0	.	407	Q9NY91	SC5A4_HUMAN	T	407	ENSP00000266086:I407T	ENSP00000266086:I407T	I	-	2	0	SLC5A4	30955241	1.000000	0.71417	0.581000	0.28614	0.093000	0.18481	7.206000	0.77891	0.872000	0.35775	0.533000	0.62120	ATT		0.572	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227	
ZC3H7B	23264	broad.mit.edu	37	22	41745210	41745210	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr22:41745210G>A	ENST00000352645.4	+	16	2110	c.1853G>A	c.(1852-1854)cGc>cAc	p.R618H	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.R618H	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	634					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R618H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GACGTGTGCCGCCATGAGGTG	0.637																																					p.R618H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1853A	22						.						112.0	75.0	88.0					22																	41745210		2202	4300	6502	40075156	SO:0001583	missense	23264	exon16				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1853G>A	22.37:g.41745210G>A	ENSP00000345793:p.Arg618His		40075156	NM_017590	A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	35	5.528100	0.96446	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.15017	2.46;2.46	5.2	5.2	0.72013	.	0.050759	0.85682	D	0.000000	T	0.43765	0.1262	M	0.77313	2.365	0.80722	D	1	D	0.76494	0.999	D	0.63877	0.919	T	0.45716	-0.9242	10	0.87932	D	0	-33.623	18.7452	0.91789	0.0:0.0:1.0:0.0	.	618	Q9UGR2-2	.	H	618	ENSP00000345793:R618H;ENSP00000263243:R618H	ENSP00000263243:R618H	R	+	2	0	ZC3H7B	40075156	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.790000	0.99075	2.435000	0.82474	0.514000	0.50259	CGC		0.637	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590	
C19orf26	255057	broad.mit.edu	37	19	1234738	1234738	+	Silent	SNP	G	G	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr19:1234738G>A	ENST00000382477.2	-	6	793	c.519C>T	c.(517-519)taC>taT	p.Y173Y	C19orf26_ENST00000590083.1_Silent_p.Y153Y|C19orf26_ENST00000215376.6_Silent_p.Y147Y			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	173						integral component of membrane (GO:0016021)		p.Y147Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)		CCGTCAGTGTGTACCTGCGAC	0.662										HNSCC(14;0.022)																											p.Y147Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C441T	19						.						92.0	77.0	82.0					19																	1234738		2198	4299	6497	1185738	SO:0001819	synonymous_variant	255057	exon6			BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.519C>T	19.37:g.1234738G>A			1185738	NM_152769	O43385	Silent	SNP	ENST00000382477.2	37																																																																																					0.662	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769	
DNM2	1785	broad.mit.edu	37	19	10887842	10887842	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr19:10887842G>A	ENST00000355667.6	+	5	718	c.638G>A	c.(637-639)gGc>gAc	p.G213D	DNM2_ENST00000585892.1_Missense_Mutation_p.G213D|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000408974.4_Missense_Mutation_p.G213D|DNM2_ENST00000389253.4_Missense_Mutation_p.G213D|DNM2_ENST00000359692.6_Missense_Mutation_p.G213D|DNM2_ENST00000314646.5_Missense_Mutation_p.G213D	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	213	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)	p.G213D(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			ATGGACGAGGGCACCGACGCC	0.592			"""F, N, Splice, Mis, O"""		ETP ALL																																p.G213D			Rec	yes		19	19p13.2	1785	dynamin 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G638A	19						.						117.0	103.0	108.0					19																	10887842		2203	4300	6503	10748842	SO:0001583	missense	1785	exon5				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.638G>A	19.37:g.10887842G>A	ENSP00000347890:p.Gly213Asp		10748842	NM_001190716	A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122474	0.94429	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	D;D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78;-3.78	4.94	4.94	0.65067	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.98308	0.9439	M	0.93241	3.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	D	0.99694	1.1002	10	0.87932	D	0	-6.9168	16.9491	0.86239	0.0:0.0:1.0:0.0	.	213;213;213;213	A8K1B6;P50570-2;P50570;E9PEQ4	.;.;DYN2_HUMAN;.	D	202;213;213;213;213;213	ENSP00000386192:G213D;ENSP00000347890:G213D;ENSP00000352721:G213D;ENSP00000373905:G213D;ENSP00000313164:G213D	ENSP00000313164:G213D	G	+	2	0	DNM2	10748842	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.756000	0.98918	2.286000	0.76751	0.561000	0.74099	GGC		0.592	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945	
CACNA1A	773	broad.mit.edu	37	19	13409402	13409402	+	Silent	SNP	C	C	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr19:13409402C>A	ENST00000360228.5	-	19	3044	c.3045G>T	c.(3043-3045)ggG>ggT	p.G1015G	CACNA1A_ENST00000573710.2_Silent_p.G1016G	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1016			E -> K (in dbSNP:rs16024).		adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.G1016G(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCGCGCGTCCCCCTCGTACG	0.677																																					p.G1016G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G3048T	19						.						22.0	22.0	22.0					19																	13409402		1606	3083	4689	13270402	SO:0001819	synonymous_variant	773	exon19			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3045G>T	19.37:g.13409402C>A			13270402	NM_001174080	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																				0.677	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
SLC1A6	6511	broad.mit.edu	37	19	15079274	15079274	+	Missense_Mutation	SNP	C	C	T	rs200538770		TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr19:15079274C>T	ENST00000221742.3	-	3	396	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	SLC1A6_ENST00000430939.2_Intron|SLC1A6_ENST00000598504.1_Missense_Mutation_p.R130Q|SLC1A6_ENST00000544886.2_Missense_Mutation_p.R130Q|SLC1A6_ENST00000600144.1_Missense_Mutation_p.R130Q	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	130					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.R130Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CACAGCTGCCCGCATCCCCAT	0.607													c|||	1	0.000199681	0.0	0.0	5008	,	,		15303	0.0		0.001	False		,,,				2504	0.0				p.R130Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G389A	19						.		GLN/ARG	0,4406		0,0,2203	105.0	74.0	84.0		389	4.4	0.2	19		84	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC1A6	NM_005071.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	130/565	15079274	1,13005	2203	4300	6503	14940274	SO:0001583	missense	6511	exon3				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.389G>A	19.37:g.15079274C>T	ENSP00000221742:p.Arg130Gln		14940274	NM_005071	Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	CCDS12321.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	19.09	3.760800	0.69763	0.0	1.16E-4	ENSG00000105143	ENST00000221742;ENST00000544886;ENST00000542610	T;T	0.61040	0.14;0.14	4.39	4.39	0.52855	.	0.129882	0.52532	D	0.000066	T	0.69450	0.3112	M	0.79475	2.455	0.52099	D	0.999948	P;D;P	0.61080	0.94;0.989;0.902	P;P;B	0.54210	0.473;0.745;0.135	T	0.75331	-0.3355	10	0.66056	D	0.02	-20.5818	14.5124	0.67797	0.0:1.0:0.0:0.0	.	130;131;130	Q8N753;Q59GB0;P48664	.;.;EAA4_HUMAN	Q	130;130;131	ENSP00000221742:R130Q;ENSP00000446175:R130Q	ENSP00000221742:R130Q	R	-	2	0	SLC1A6	14940274	1.000000	0.71417	0.203000	0.23512	0.987000	0.75469	5.720000	0.68470	2.276000	0.75962	0.450000	0.29827	CGG		0.607	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071	
ZNF829	374899	broad.mit.edu	37	19	37382938	37382938	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr19:37382938C>A	ENST00000391711.3	-	6	1119	c.755G>T	c.(754-756)tGc>tTc	p.C252F	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000520965.1_Missense_Mutation_p.C333F	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	252					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C252F(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGTTTGAGCAATACTTAAA	0.348																																					p.C252F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G755T	19						.						49.0	52.0	51.0					19																	37382938		2202	4297	6499	42074778	SO:0001583	missense	374899	exon6			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.755G>T	19.37:g.37382938C>A	ENSP00000429266:p.Cys252Phe		42074778	NM_001037232	Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	ENST00000391711.3	37	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740026	0.30865	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.07327	3.2	3.41	-0.179	0.13299	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03220	0.0094	N	0.10874	0.06	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.47368	-0.9123	9	0.09084	T	0.74	.	3.8994	0.09154	0.3231:0.4794:0.0:0.1975	.	252	Q3KNS6	ZN829_HUMAN	F	252	ENSP00000429266:C252F	ENSP00000429266:C252F	C	-	2	0	ZNF829	42074778	0.000000	0.05858	0.956000	0.39512	0.984000	0.73092	-2.992000	0.00657	0.065000	0.16485	-0.157000	0.13467	TGC		0.348	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232	
SIGLEC7	27036	broad.mit.edu	37	19	51645997	51645997	+	Missense_Mutation	SNP	G	G	A	rs368230574	byFrequency	TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr19:51645997G>A	ENST00000317643.6	+	1	440	c.371G>A	c.(370-372)cGt>cAt	p.R124H	SIGLEC7_ENST00000600577.1_Missense_Mutation_p.R124H|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.R124H	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	124					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.R124H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		TACTTCTTTCGTATGGAGAAA	0.478																																					p.R124H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G371A	19						.						87.0	89.0	89.0					19																	51645997		2203	4300	6503	56337809	SO:0001583	missense	27036	exon1			AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.371G>A	19.37:g.51645997G>A	ENSP00000323328:p.Arg124His		56337809	NM_014385	Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP	ENST00000317643.6	37	CCDS12826.1	.	.	.	.	.	.	.	.	.	.	.	13.82	2.351240	0.41700	.	.	ENSG00000168995	ENST00000317643;ENST00000305628;ENST00000536156	T;T;T	0.65916	-0.18;-0.18;-0.18	2.89	0.393	0.16294	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.072930	0.07459	N	0.900226	T	0.63046	0.2478	M	0.77103	2.36	0.09310	N	1	D;P;D	0.64830	0.994;0.877;0.973	P;B;B	0.46320	0.512;0.029;0.36	T	0.52215	-0.8605	10	0.38643	T	0.18	.	4.9449	0.13984	0.3527:0.0:0.6473:0.0	.	124;124;124	Q9Y286-4;Q9Y286-2;Q9Y286	.;.;SIGL7_HUMAN	H	124	ENSP00000323328:R124H;ENSP00000306757:R124H;ENSP00000437609:R124H	ENSP00000306757:R124H	R	+	2	0	SIGLEC7	56337809	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	0.391000	0.20784	0.040000	0.15660	0.530000	0.56133	CGT		0.478	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543	
CACNG7	59284	broad.mit.edu	37	19	54445395	54445395	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr19:54445395G>A	ENST00000391767.1	+	6	888	c.676G>A	c.(676-678)Gac>Aac	p.D226N	CACNG7_ENST00000222212.2_Missense_Mutation_p.D226N			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	226				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). {ECO:0000305}.	calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.D226N(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CGACTGCTCCGACTACTCGGG	0.662																																					p.D226N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G676A	19						.						71.0	67.0	68.0					19																	54445395		2203	4300	6503	59137207	SO:0001583	missense	59284	exon5			AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.676G>A	19.37:g.54445395G>A	ENSP00000375647:p.Asp226Asn		59137207	NM_031896	Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	G	35	5.438525	0.96168	.	.	ENSG00000105605	ENST00000391767;ENST00000222212	T;T	0.64618	-0.11;-0.11	4.18	4.18	0.49190	.	0.055619	0.64402	D	0.000002	T	0.67627	0.2913	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66176	-0.5989	10	0.33141	T	0.24	-32.3698	14.3911	0.66978	0.0:0.0:1.0:0.0	.	226	P62955	CCG7_HUMAN	N	226	ENSP00000375647:D226N;ENSP00000222212:D226N	ENSP00000222212:D226N	D	+	1	0	CACNG7	59137207	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.212000	0.77941	2.072000	0.62099	0.491000	0.48974	GAC		0.662	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2		
ACSBG2	81616	broad.mit.edu	37	19	6183076	6183076	+	Missense_Mutation	SNP	G	G	A	rs372123644		TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr19:6183076G>A	ENST00000586696.1	+	10	1391	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	ACSBG2_ENST00000252669.5_Missense_Mutation_p.R372H|ACSBG2_ENST00000588304.1_Missense_Mutation_p.R322H|ACSBG2_ENST00000591403.1_Missense_Mutation_p.R372H|ACSBG2_ENST00000588485.1_Missense_Mutation_p.R185H|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	372					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.R372H(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGAGCTACCGCATGGCTAAG	0.512																																					p.R372H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1115A	19						.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	103.0	97.0	99.0		1115	-1.4	0.0	19		99	0,8600		0,0,4300	no	missense	ACSBG2	NM_030924.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	372/667	6183076	1,13005	2203	4300	6503	6134076	SO:0001583	missense	81616	exon10				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1115G>A	19.37:g.6183076G>A	ENSP00000465589:p.Arg372His		6134076	NM_030924	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	G	2.269	-0.367374	0.05069	2.27E-4	0.0	ENSG00000130377	ENST00000252669	T	0.17370	2.28	5.06	-1.41	0.08941	AMP-dependent synthetase/ligase (1);	0.371965	0.19898	N	0.103569	T	0.12902	0.0313	L	0.50333	1.59	0.20703	N	0.999863	B;B	0.24533	0.07;0.105	B;B	0.24269	0.052;0.051	T	0.36672	-0.9738	10	0.15066	T	0.55	-11.3548	10.2141	0.43158	0.498:0.0:0.502:0.0	.	372;372	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	H	372	ENSP00000252669:R372H	ENSP00000252669:R372H	R	+	2	0	ACSBG2	6134076	0.007000	0.16637	0.046000	0.18839	0.000000	0.00434	0.099000	0.15210	-0.045000	0.13468	-0.781000	0.03364	CGC		0.512	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924	
RPL28	6158	broad.mit.edu	37	19	55898013	55898013	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr19:55898013C>T	ENST00000344063.2	+	3	786	c.157C>T	c.(157-159)Ccg>Tcg	p.P53S	RPL28_ENST00000560055.1_Missense_Mutation_p.P53S|RPL28_ENST00000431533.2_Missense_Mutation_p.P53S|RPL28_ENST00000558815.1_Missense_Mutation_p.P53S|RPL28_ENST00000458349.2_Missense_Mutation_p.P53S|TMEM238_ENST00000444469.3_5'Flank|RPL28_ENST00000560583.1_Missense_Mutation_p.P53S|RPL28_ENST00000558752.1_Missense_Mutation_p.P53S|RPL28_ENST00000559463.1_Missense_Mutation_p.P53S|RPL28_ENST00000558131.1_Missense_Mutation_p.P53S|RPL28_ENST00000428193.2_Missense_Mutation_p.P53S			P46779	RL28_HUMAN	ribosomal protein L28	53					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)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.P53S(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GGGCGTGGAGCCGGCAGCCGA	0.602																																					p.P53S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C157T	19						.						83.0	92.0	89.0					19																	55898013		2203	4300	6503	60589825	SO:0001583	missense	6158	exon3			U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"""L ribosomal proteins"""	10330	protein-coding gene	gene with protein product	"""60S ribosomal protein L28"""	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.157C>T	19.37:g.55898013C>T	ENSP00000342787:p.Pro53Ser		60589825	NM_001136137	B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	ENST00000344063.2	37	CCDS12924.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419367	0.62622	.	.	ENSG00000108107	ENST00000344063;ENST00000426763;ENST00000428193;ENST00000431533;ENST00000458349	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	3.54	3.54	0.40534	.	0.131871	0.51477	D	0.000082	T	0.36054	0.0953	L	0.52126	1.63	0.58432	D	0.999999	P;B;B;B;B	0.37207	0.587;0.412;0.075;0.107;0.025	B;B;B;B;B	0.35039	0.194;0.114;0.065;0.067;0.026	T	0.34527	-0.9825	10	0.42905	T	0.14	.	13.3801	0.60762	0.0:1.0:0.0:0.0	.	53;53;53;53;53	B4DEP9;E9PB24;C9JB50;G5E9L2;P46779	.;.;.;.;RL28_HUMAN	S	53	ENSP00000342787:P53S;ENSP00000391665:P53S;ENSP00000400596:P53S;ENSP00000401450:P53S	ENSP00000342787:P53S	P	+	1	0	RPL28	60589825	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.841000	0.62824	2.289000	0.77006	0.561000	0.74099	CCG		0.602	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416277.2	NM_000991	
ZNF835	90485	broad.mit.edu	37	19	57175194	57175194	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr19:57175194C>T	ENST00000537055.2	-	2	1604	c.1373G>A	c.(1372-1374)cGc>cAc	p.R458H		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	458					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R480H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CAGGTAGGAGCGGTTGCTGAA	0.667																																					p.R480H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1439A	19						.						74.0	82.0	80.0					19																	57175194		2202	4300	6502	61867006	SO:0001583	missense	90485	exon2			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1373G>A	19.37:g.57175194C>T	ENSP00000444747:p.Arg458His		61867006	NM_001005850	B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	9.050	0.991927	0.18966	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.36157	1.27	2.15	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21468	0.0517	L	0.43646	1.37	0.09310	N	1	P	0.38420	0.63	B	0.28465	0.09	T	0.11397	-1.0589	9	0.30854	T	0.27	.	4.2416	0.10650	0.0:0.6499:0.0:0.3501	.	480	Q9Y2P0	ZN835_HUMAN	H	480;458	ENSP00000444747:R458H	ENSP00000341756:R480H	R	-	2	0	ZNF835	61867006	0.000000	0.05858	0.001000	0.08648	0.081000	0.17604	-2.247000	0.01190	0.453000	0.26858	0.561000	0.74099	CGC		0.667	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850	
PEG3	5178	broad.mit.edu	37	19	57326370	57326370	+	Missense_Mutation	SNP	G	G	C	rs149202084		TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr19:57326370G>C	ENST00000326441.9	-	10	3803	c.3440C>G	c.(3439-3441)aCc>aGc	p.T1147S	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.T1147S|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.T1023S|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.T1021S|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1147					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.T1147S(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GATGGAATGGGTGTGAATTAC	0.468																																					p.T1147S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3440G	19						.						177.0	159.0	165.0					19																	57326370		2203	4300	6503	62018182	SO:0001583	missense	5178	exon7			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3440C>G	19.37:g.57326370G>C	ENSP00000326581:p.Thr1147Ser		62018182	NM_001146186	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	1.113	-0.657466	0.03480	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02421	4.3;4.3	4.33	-3.43	0.04810	.	0.844748	0.10178	N	0.706226	T	0.02929	0.0087	N	0.19112	0.55	.	.	.	B;D;P	0.76494	0.013;0.999;0.847	B;D;B	0.65987	0.006;0.94;0.293	T	0.26916	-1.0089	9	0.02654	T	1	-1.1575	1.5298	0.02533	0.4074:0.1292:0.319:0.1444	.	1023;1147;1082	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	S	1147	ENSP00000326581:T1147S;ENSP00000403051:T1147S	ENSP00000326581:T1147S	T	-	2	0	ZIM2	62018182	0.000000	0.05858	0.000000	0.03702	0.906000	0.53458	-0.889000	0.04144	-0.452000	0.07087	0.655000	0.94253	ACC		0.468	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
DCSTAMP	81501	broad.mit.edu	37	8	105361454	105361454	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A01W-01	TCGA-AG-A01W-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr8:105361454T>G	ENST00000297581.2	+	2	723	c.674T>G	c.(673-675)cTt>cGt	p.L225R	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.L225R	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	225					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.L225R(1)									CTCGTCCTGCTTGGCACTGGC	0.498																																					p.L225R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T674G	8						.						100.0	92.0	95.0					8																	105361454		2203	4300	6503	105430630	SO:0001583	missense	81501	exon2			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.674T>G	8.37:g.105361454T>G	ENSP00000297581:p.Leu225Arg		105430630	NM_030788	B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.785544	0.49997	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.37752	1.18	5.52	4.32	0.51571	.	0.356779	0.29239	N	0.012724	T	0.39410	0.1077	L	0.47716	1.5	0.09310	N	1	D	0.54397	0.966	P	0.50440	0.641	T	0.21245	-1.0251	9	.	.	.	-12.6714	11.4999	0.50430	0.0:0.0:0.1492:0.8508	.	225	Q9H295	TM7S4_HUMAN	R	225	ENSP00000297581:L225R	.	L	+	2	0	TM7SF4	105430630	0.319000	0.24607	0.031000	0.17742	0.720000	0.41350	3.897000	0.56273	2.120000	0.65058	0.454000	0.30748	CTT		0.498	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788	
CSMD3	114788	broad.mit.edu	37	8	113267618	113267618	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A01W-01	TCGA-AG-A01W-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr8:113267618T>G	ENST00000297405.5	-	62	10145	c.9901A>C	c.(9901-9903)Aaa>Caa	p.K3301Q	CSMD3_ENST00000455883.2_Missense_Mutation_p.K3132Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.K3231Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.K3261Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3301	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K3301Q(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTTCTCTTTTTCCTTGGGCA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.K3301Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A9901C	8						.						111.0	102.0	105.0					8																	113267618		2203	4299	6502	113336794	SO:0001583	missense	114788	exon62			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9901A>C	8.37:g.113267618T>G	ENSP00000297405:p.Lys3301Gln		113336794	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.571988	0.45798	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	4.99	4.99	0.66335	Complement control module (2);Sushi/SCR/CCP (3);	0.365631	0.25159	N	0.032687	T	0.45637	0.1352	N	0.20483	0.58	0.36140	D	0.846756	B;B;B	0.30634	0.009;0.004;0.288	B;B;B	0.25614	0.01;0.011;0.062	T	0.52888	-0.8515	10	0.25106	T	0.35	.	14.8704	0.70453	0.0:0.0:0.0:1.0	.	3132;3301;3261	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	3261;3301;2571;3132;3231	ENSP00000345799:K3261Q;ENSP00000297405:K3301Q;ENSP00000341558:K2571Q;ENSP00000412263:K3132Q;ENSP00000343124:K3231Q	ENSP00000297405:K3301Q	K	-	1	0	CSMD3	113336794	0.933000	0.31639	1.000000	0.80357	0.973000	0.67179	2.473000	0.45145	2.103000	0.63969	0.528000	0.53228	AAA		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
MYOM2	9172	broad.mit.edu	37	8	1998942	1998942	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr8:1998942G>A	ENST00000262113.4	+	2	203	c.62G>A	c.(61-63)cGt>cAt	p.R21H	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	21					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.R21H(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CAGTCCTACCGTAATATTCAA	0.488																																					p.R21H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G62A	8						.						120.0	92.0	101.0					8																	1998942		2203	4300	6503	1986349	SO:0001583	missense	9172	exon2				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.62G>A	8.37:g.1998942G>A	ENSP00000262113:p.Arg21His		1986349	NM_003970	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451218	0.63290	.	.	ENSG00000036448	ENST00000262113	T	0.74209	-0.82	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000004	D	0.85669	0.5750	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84937	0.0863	10	0.48119	T	0.1	.	19.3732	0.94498	0.0:0.0:1.0:0.0	.	21	P54296	MYOM2_HUMAN	H	21	ENSP00000262113:R21H	ENSP00000262113:R21H	R	+	2	0	MYOM2	1986349	1.000000	0.71417	0.544000	0.28141	0.019000	0.09904	4.827000	0.62723	2.653000	0.90120	0.563000	0.77884	CGT		0.488	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	
CSMD1	64478	broad.mit.edu	37	8	2823359	2823359	+	Missense_Mutation	SNP	G	G	A	rs375759183		TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr8:2823359G>A	ENST00000520002.1	-	60	9776	c.9221C>T	c.(9220-9222)aCa>aTa	p.T3074I	CSMD1_ENST00000602557.1_Missense_Mutation_p.T3074I|CSMD1_ENST00000537824.1_Missense_Mutation_p.T3073I|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3074	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.T3073I(1)|p.T2802I(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGTGGCGGATGTGACTGCTTC	0.483																																					p.H3073H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C9219T	8						.	G	ILE/THR	1,4129		0,1,2064	71.0	81.0	78.0		9218	2.4	0.0	8		78	0,8414		0,0,4207	no	missense	CSMD1	NM_033225.5	89	0,1,6271	AA,AG,GG		0.0,0.0242,0.0080	benign	3073/3565	2823359	1,12543	2065	4207	6272	2810766	SO:0001583	missense	64478	exon59					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9221C>T	8.37:g.2823359G>A	ENSP00000430733:p.Thr3074Ile		2810766	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	1.379	-0.584083	0.03827	2.42E-4	0.0	ENSG00000183117	ENST00000520002;ENST00000318252;ENST00000537824	T;T	0.24908	1.83;1.83	5.42	2.38	0.29361	Complement control module (2);Sushi/SCR/CCP (3);	0.424541	0.22867	N	0.054666	T	0.15262	0.0368	L	0.34521	1.04	0.09310	N	0.999994	B;B	0.20164	0.042;0.0	B;B	0.18561	0.022;0.01	T	0.20240	-1.0281	10	0.16420	T	0.52	.	6.6554	0.22984	0.1811:0.4452:0.3737:0.0	.	3074;3074	E5RIG2;Q96PZ7	.;CSMD1_HUMAN	I	3074;2935;3073	ENSP00000430733:T3074I;ENSP00000441462:T3073I	ENSP00000320445:T2935I	T	-	2	0	CSMD1	2810766	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.678000	0.25277	1.219000	0.43474	0.655000	0.94253	ACA		0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
PDLIM2	64236	broad.mit.edu	37	8	22451342	22451342	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr8:22451342C>G	ENST00000397760.4	+	10	1378	c.978C>G	c.(976-978)ttC>ttG	p.F326L	PDLIM2_ENST00000409141.1_3'UTR|PDLIM2_ENST00000265810.4_Missense_Mutation_p.F326L|PDLIM2_ENST00000397761.2_Missense_Mutation_p.F326L|AC037459.4_ENST00000430850.2_Missense_Mutation_p.F120L|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000409417.1_Missense_Mutation_p.F326L|PDLIM2_ENST00000339162.7_3'UTR|PDLIM2_ENST00000308354.7_Missense_Mutation_p.F576L			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	326	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.F326L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GCGGGCACTTCTGGGTGGGTG	0.672																																					p.F576L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1728G	8						.						40.0	30.0	33.0					8																	22451342		2203	4297	6500	22507287	SO:0001583	missense	64236	exon10			AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.978C>G	8.37:g.22451342C>G	ENSP00000380867:p.Phe326Leu		22507287	NM_021630	D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Missense_Mutation	SNP	ENST00000397760.4	37		.	.	.	.	.	.	.	.	.	.	C	21.1	4.101652	0.76983	.	.	ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000248235	ENST00000308354;ENST00000397760;ENST00000397761;ENST00000265810;ENST00000409417;ENST00000430850	D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	4.72	0.69	0.18039	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.92922	0.7748	M	0.88906	2.99	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.994	D	0.91345	0.5100	10	0.87932	D	0	-22.5603	10.1588	0.42838	0.0:0.8292:0.0:0.1708	.	326;326	Q96JY6-3;Q96JY6	.;PDLI2_HUMAN	L	576;326;326;326;326;120	ENSP00000312634:F576L;ENSP00000380867:F326L;ENSP00000380868:F326L;ENSP00000265810:F326L;ENSP00000387084:F326L;ENSP00000428700:F120L	ENSP00000428700:F120L	F	+	3	2	AC037459.4;PDLIM2	22507287	0.997000	0.39634	0.995000	0.50966	0.800000	0.45204	0.444000	0.21661	-0.182000	0.10602	0.491000	0.48974	TTC		0.672	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000334167.1		
KIAA1429	25962	broad.mit.edu	37	8	95504925	95504925	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr8:95504925C>A	ENST00000297591.5	-	21	4838	c.4763G>T	c.(4762-4764)gGa>gTa	p.G1588V	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1588					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G1588V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AAGTTTGAATCCTTTAGTAGT	0.368																																					p.G1588V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4763T	8						.						165.0	155.0	158.0					8																	95504925		2203	4300	6503	95574101	SO:0001583	missense	25962	exon21			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4763G>T	8.37:g.95504925C>A	ENSP00000297591:p.Gly1588Val		95574101	NM_015496	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910842	0.52439	.	.	ENSG00000164944	ENST00000297591	T	0.47869	0.83	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.63931	0.2553	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54984	-0.8211	10	0.14252	T	0.57	-16.8225	19.5445	0.95285	0.0:1.0:0.0:0.0	.	1588	Q69YN4	VIR_HUMAN	V	1588	ENSP00000297591:G1588V	ENSP00000297591:G1588V	G	-	2	0	KIAA1429	95574101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.614000	0.88457	0.585000	0.79938	GGA		0.368	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496	
MROH5	389690	broad.mit.edu	37	8	142486077	142486077	+	RNA	SNP	G	G	A	rs372270658		TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr8:142486077G>A	ENST00000430863.1	-	0	1696					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5									p.T539M(1)									GCCCTGGTGCGTCCAGCCTGC	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18866	0.0		0.0	False		,,,				2504	0.0				p.T539M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1616T	8						.	G	MET/THR	2,3990		0,2,1994	20.0	26.0	24.0		1616	-5.2	0.0	8		24	1,8313		0,1,4156	no	missense	FLJ43860	NM_207414.2	81	0,3,6150	AA,AG,GG		0.012,0.0501,0.0244	benign	539/1319	142486077	3,12303	1996	4157	6153	142555259			389690	exon13					8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142486077G>A			142555259	NM_207414		Missense_Mutation	SNP	ENST00000430863.1	37																																																																																					0.612	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414	
DENND2D	79961	broad.mit.edu	37	1	111737251	111737251	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A01W-01	TCGA-AG-A01W-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr1:111737251A>G	ENST00000357640.4	-	7	972	c.743T>C	c.(742-744)tTt>tCt	p.F248S	DENND2D_ENST00000369752.5_Missense_Mutation_p.F245S|DENND2D_ENST00000473682.1_5'Flank	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	248	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.F248S(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GGCAGAGGCAAAGATCTGAAG	0.532																																					p.F248S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T743C	1						.						65.0	68.0	67.0					1																	111737251		2203	4300	6503	111538774	SO:0001583	missense	79961	exon7				CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.743T>C	1.37:g.111737251A>G	ENSP00000350266:p.Phe248Ser		111538774	NM_024901	Q5T5V6|Q9BSU0	Missense_Mutation	SNP	ENST00000357640.4	37	CCDS831.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.922484	0.92319	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.15256	2.44;2.44	5.79	5.79	0.91817	DENN (3);	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	M	0.90759	3.145	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.53373	-0.8448	10	0.87932	D	0	-16.1842	14.083	0.64937	1.0:0.0:0.0:0.0	.	245;248	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	S	248;245	ENSP00000350266:F248S;ENSP00000358767:F245S	ENSP00000350266:F248S	F	-	2	0	DENND2D	111538774	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.497000	0.81536	2.211000	0.71520	0.533000	0.62120	TTT		0.532	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901	
SYT6	148281	broad.mit.edu	37	1	114680226	114680226	+	Missense_Mutation	SNP	C	C	T	rs549305784		TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr1:114680226C>T	ENST00000610222.1	-	3	1108	c.962G>A	c.(961-963)cGc>cAc	p.R321H	SYT6_ENST00000609117.1_Missense_Mutation_p.R236H|SYT6_ENST00000369547.1_Missense_Mutation_p.R236H|SYT6_ENST00000393296.1_Missense_Mutation_p.R321H|SYT6_ENST00000607941.1_Missense_Mutation_p.R236H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	321	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.R236H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCGGGAGAAGCGGTCAAAGTC	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		17826	0.0		0.0	False		,,,				2504	0.001				p.R236H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G707A	1						.						90.0	84.0	86.0					1																	114680226		2203	4300	6503	114481749	SO:0001583	missense	148281	exon3				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.962G>A	1.37:g.114680226C>T	ENSP00000476396:p.Arg321His		114481749	NM_205848	B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37		.	.	.	.	.	.	.	.	.	.	C	34	5.293177	0.95546	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	5.45	5.45	0.79879	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.30448	0.0765	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.08764	-1.0706	10	0.87932	D	0	.	19.2901	0.94095	0.0:1.0:0.0:0.0	.	321	Q5T7P8	SYT6_HUMAN	H	236;321;236;321	ENSP00000358560:R236H;ENSP00000376974:R321H;ENSP00000358559:R236H;ENSP00000358558:R321H	ENSP00000358558:R321H	R	-	2	0	SYT6	114481749	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.815000	0.86186	2.567000	0.86603	0.650000	0.86243	CGC		0.532	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848	
BRINP3	339479	broad.mit.edu	37	1	190067930	190067930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr1:190067930G>A	ENST00000367462.3	-	8	1750	c.1519C>T	c.(1519-1521)Cga>Tga	p.R507*	BRINP3_ENST00000534846.1_Nonsense_Mutation_p.R405*	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	507					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.R507*(3)									ACTTCTATTCGTCTGTCCGTT	0.483																																					p.R507X												.	.	3	Substitution - Nonsense(3)	large_intestine(1)|kidney(1)|endometrium(1)	c.C1519T	1						.						159.0	152.0	154.0					1																	190067930		2203	4300	6503	188334553	SO:0001587	stop_gained	339479	exon8			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1519C>T	1.37:g.190067930G>A	ENSP00000356432:p.Arg507*		188334553	NM_199051	B3KVP1|B7Z260|O95726|Q2M330	Nonsense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028520	0.93518	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	.	.	.	5.75	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6238	0.45495	0.0:0.0:0.6879:0.3121	.	.	.	.	X	507;405	.	ENSP00000356432:R507X	R	-	1	2	FAM5C	188334553	0.819000	0.29175	0.368000	0.25939	0.962000	0.63368	1.147000	0.31602	2.712000	0.92718	0.591000	0.81541	CGA		0.483	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051	
KCNT2	343450	broad.mit.edu	37	1	196438126	196438126	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A01W-01	TCGA-AG-A01W-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr1:196438126A>C	ENST00000294725.9	-	6	1372	c.457T>G	c.(457-459)Tca>Gca	p.S153A	KCNT2_ENST00000367433.5_Missense_Mutation_p.S153A|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.S153A|KCNT2_ENST00000367431.4_Missense_Mutation_p.S153A			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	153					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.S153A(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGACTTACTGAGATAATGAAG	0.289																																					p.S153A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T457G	1						.						41.0	42.0	41.0					1																	196438126		2200	4297	6497	194704749	SO:0001583	missense	343450	exon6			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.457T>G	1.37:g.196438126A>C	ENSP00000294725:p.Ser153Ala		194704749	NM_198503	Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.615017	0.46631	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.18016	2.24;2.26;2.52	5.41	5.41	0.78517	.	0.278962	0.26231	N	0.025561	T	0.11623	0.0283	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.19445	0.036;0.007;0.012;0.036	B;B;B;B	0.25506	0.01;0.016;0.061;0.01	T	0.17258	-1.0375	10	0.27082	T	0.32	-14.7458	8.5006	0.33156	0.7321:0.0:0.0:0.2679	.	153;153;153;153	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	A	153	ENSP00000356403:S153A;ENSP00000356401:S153A;ENSP00000294725:S153A	ENSP00000294725:S153A	S	-	1	0	KCNT2	194704749	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.720000	0.68470	2.269000	0.75478	0.455000	0.32223	TCA		0.289	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	
F13B	2165	broad.mit.edu	37	1	197009695	197009695	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr1:197009695C>A	ENST00000367412.1	-	11	1952	c.1909G>T	c.(1909-1911)Gac>Tac	p.D637Y	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	637	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.D637Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TGCCCTCTGTCACATTGCATT	0.308																																					p.D637Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1909T	1						.						79.0	84.0	82.0					1																	197009695		2201	4293	6494	195276318	SO:0001583	missense	2165	exon11			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1909G>T	1.37:g.197009695C>A	ENSP00000356382:p.Asp637Tyr		195276318	NM_001994	A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	8.355	0.831881	0.16820	.	.	ENSG00000143278	ENST00000367412	D	0.82893	-1.66	5.77	1.62	0.23740	Complement control module (1);	0.471179	0.15845	N	0.241834	T	0.75547	0.3864	M	0.68317	2.08	0.29167	N	0.877365	P	0.47106	0.89	B	0.36719	0.231	T	0.70684	-0.4804	10	0.59425	D	0.04	.	5.9223	0.19088	0.0:0.5085:0.1876:0.3038	.	637	P05160	F13B_HUMAN	Y	637	ENSP00000356382:D637Y	ENSP00000356382:D637Y	D	-	1	0	F13B	195276318	0.862000	0.29867	0.995000	0.50966	0.172000	0.22775	-0.314000	0.08092	0.461000	0.27071	-0.140000	0.14226	GAC		0.308	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994	
IGFN1	91156	broad.mit.edu	37	1	201185880	201185880	+	Splice_Site	SNP	G	G	T	rs35601315		TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr1:201185880G>T	ENST00000335211.4	+	16	9724	c.9594G>T	c.(9592-9594)gaG>gaT	p.E3198D	IGFN1_ENST00000295591.8_Splice_Site_p.E358D	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	741						nucleus (GO:0005634)|Z disc (GO:0030018)		p.E3198D(1)|p.E358D(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGCTCCTGAGGGTGAGAGAA	0.647																																					p.E3198D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G9594T	1						.						26.0	32.0	30.0					1																	201185880		2203	4299	6502	199452503	SO:0001630	splice_region_variant	91156	exon16			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9595+1G>T	1.37:g.201185880G>T			199452503	NM_001164586	F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.30|14.30	2.495435|2.495435	0.44352|0.44352	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000335211;ENST00000295591|ENST00000412892	D;D|.	0.82711|.	-1.64;-1.64|.	4.06|4.06	-0.682|-0.682	0.11339|0.11339	.|.	0.696719|.	0.13421|.	N|.	0.389167|.	T|T	0.38878|0.38878	0.1057|0.1057	M|M	0.61703|0.61703	1.905|1.905	0.29993|0.29993	N|N	0.816734|0.816734	B|.	0.29085|.	0.232|.	B|.	0.29267|.	0.1|.	T|T	0.43245|0.43245	-0.9403|-0.9403	10|5	0.54805|.	T|.	0.06|.	.|.	2.2373|2.2373	0.04011|0.04011	0.327:0.0:0.2717:0.4013|0.327:0.0:0.2717:0.4013	.|.	3198|.	F8WAI1|.	.|.	D|C	3198;358|616	ENSP00000334714:E3198D;ENSP00000295591:E358D|.	ENSP00000295591:E358D|.	E|G	+|+	3|1	2|0	IGFN1|IGFN1	199452503|199452503	0.983000|0.983000	0.35010|0.35010	0.998000|0.998000	0.56505|0.56505	0.858000|0.858000	0.48976|0.48976	0.215000|0.215000	0.17562|0.17562	0.010000|0.010000	0.14839|0.14839	0.561000|0.561000	0.74099|0.74099	GAG|GGC		0.647	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275	Missense_Mutation
ETNK2	55224	broad.mit.edu	37	1	204115797	204115797	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr1:204115797G>A	ENST00000367202.4	-	3	764	c.614C>T	c.(613-615)aCg>aTg	p.T205M	ETNK2_ENST00000367201.3_Missense_Mutation_p.T205M|ETNK2_ENST00000367199.2_Intron|ETNK2_ENST00000367198.2_Missense_Mutation_p.T27M	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	205					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)	p.T205M(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTCACAAGCGTGAAATAATT	0.502																																					p.T205M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C614T	1						.						203.0	174.0	184.0					1																	204115797		2203	4300	6503	202382420	SO:0001583	missense	55224	exon3			AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.614C>T	1.37:g.204115797G>A	ENSP00000356170:p.Thr205Met		202382420	NM_018208	B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	ENST00000367202.4	37	CCDS1442.2	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932393	0.52866	.	.	ENSG00000143845	ENST00000367201;ENST00000367202;ENST00000455266;ENST00000367198;ENST00000422699;ENST00000452983	T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4	5.34	4.42	0.53409	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.396532	0.30473	N	0.009560	T	0.34513	0.0900	L	0.33245	0.995	0.36903	D	0.890482	P;P	0.39480	0.46;0.675	B;B	0.29862	0.108;0.094	T	0.44832	-0.9302	10	0.52906	T	0.07	-12.0424	7.9755	0.30153	0.0817:0.0:0.7597:0.1586	.	205;205	Q9NVF9;Q9NVF9-2	EKI2_HUMAN;.	M	205;205;71;27;71;62	ENSP00000356169:T205M;ENSP00000356170:T205M;ENSP00000356166:T27M;ENSP00000405497:T71M;ENSP00000398091:T62M	ENSP00000356166:T27M	T	-	2	0	ETNK2	202382420	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.809000	0.55606	1.478000	0.48253	0.655000	0.94253	ACG		0.502	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	NM_018208	
MTFR1L	56181	broad.mit.edu	37	1	26156308	26156308	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr1:26156308C>T	ENST00000374301.3	+	6	1068	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	MTFR1L_ENST00000374300.3_Nonsense_Mutation_p.Q254*|MTFR1L_ENST00000526894.1_3'UTR|MTFR1L_ENST00000474295.1_3'UTR|MTFR1L_ENST00000469815.1_3'UTR|RP1-317E23.7_ENST00000606617.1_RNA|MTFR1L_ENST00000524618.1_Nonsense_Mutation_p.Q157*|MTFR1L_ENST00000374303.2_Nonsense_Mutation_p.Q254*|MTFR1L_ENST00000374307.5_Nonsense_Mutation_p.Q242*|MTFR1L_ENST00000466284.1_3'UTR	NM_019557.5	NP_062457.3	Q9H019	MFR1L_HUMAN	mitochondrial fission regulator 1-like	254								p.Q254*(1)									CCGAATGAAACAGAGTCAAGA	0.443																																					p.Q254X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C760T	1						.						31.0	29.0	30.0					1																	26156308		1921	4125	6046	26028895	SO:0001587	stop_gained	56181	exon6				CCDS41284.1, CCDS44089.1	1p36.11	2012-11-30	2012-11-29	2012-11-29	ENSG00000117640	ENSG00000117640			28836	protein-coding gene	gene with protein product			"""family with sequence similarity 54, member B"""	FAM54B		8619474, 9110174	Standard	NM_019557		Approved		uc001bkq.4	Q9H019	OTTHUMG00000007377	ENST00000374301.3:c.760C>T	1.37:g.26156308C>T	ENSP00000363419:p.Gln254*		26028895	NM_001099625	A6NCB4|B7WNV5|D3DPJ4|Q63HP1|Q7Z2S7|Q9NUI7	Nonsense_Mutation	SNP	ENST00000374301.3	37	CCDS41284.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782905	0.90282	.	.	ENSG00000117640	ENST00000374303;ENST00000472643;ENST00000524618;ENST00000374307;ENST00000374301;ENST00000374300	.	.	.	5.95	5.95	0.96441	.	0.102064	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	0.0534	20.3932	0.98965	0.0:1.0:0.0:0.0	.	.	.	.	X	254;157;157;242;254;254	.	ENSP00000363418:Q254X	Q	+	1	0	FAM54B	26028895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.744000	0.68664	2.824000	0.97209	0.655000	0.94253	CAG		0.443	MTFR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019319.1	NM_019557	
MUTYH	4595	broad.mit.edu	37	1	45799144	45799144	+	Nonsense_Mutation	SNP	G	G	A	rs138775799		TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr1:45799144G>A	ENST00000372098.3	-	3	413	c.280C>T	c.(280-282)Cga>Tga	p.R94*	MUTYH_ENST00000372104.1_Nonsense_Mutation_p.R69*|MUTYH_ENST00000528013.2_Nonsense_Mutation_p.R83*|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000456914.2_Nonsense_Mutation_p.R69*|MUTYH_ENST00000355498.2_Nonsense_Mutation_p.R69*|MUTYH_ENST00000372115.3_Nonsense_Mutation_p.R83*|MUTYH_ENST00000372100.5_Nonsense_Mutation_p.R80*|MUTYH_ENST00000372110.3_Nonsense_Mutation_p.R84*|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000450313.1_Nonsense_Mutation_p.R97*|MUTYH_ENST00000448481.1_Nonsense_Mutation_p.R80*|MUTYH_ENST00000354383.6_Nonsense_Mutation_p.R70*|MUTYH_ENST00000529984.1_Intron			Q9UIF7	MUTYH_HUMAN	mutY homolog	94					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)	p.R94*(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					AGGCTCCCTCGGAAGGCTGTG	0.612			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																												p.R69X		yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C205T	1	GRCh37	CM030378	MUTYH	M	rs138775799	.	G	stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	101.0	86.0	91.0		247,208,205,205,289,280	4.4	0.9	1	dbSNP_134	91	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	MUTYH	NM_001048171.1,NM_001048172.1,NM_001048173.1,NM_001048174.1,NM_001128425.1,NM_012222.2	,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	83/536,70/523,69/522,69/522,97/550,94/547	45799144	1,13005	2203	4300	6503	45571731	SO:0001587	stop_gained	4595	exon3	Familial Cancer Database	MAP, MYH-associated polyposis	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.280C>T	1.37:g.45799144G>A	ENSP00000361170:p.Arg94*		45571731	NM_001048173	D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Nonsense_Mutation	SNP	ENST00000372098.3	37	CCDS520.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102628	0.76983	2.27E-4	0.0	ENSG00000132781	ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000450313;ENST00000372100;ENST00000435155;ENST00000528013;ENST00000483127	.	.	.	5.33	4.41	0.53225	.	0.055638	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.0325	15.4466	0.75235	0.0:0.0:0.86:0.14	.	.	.	.	X	69;80;69;70;69;94;84;83;97;80;80;83;75	.	ENSP00000346354:R70X	R	-	1	2	MUTYH	45571731	1.000000	0.71417	0.870000	0.34147	0.421000	0.31385	6.756000	0.74919	1.451000	0.47736	0.655000	0.94253	CGA		0.612	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222	
RYR2	6262	broad.mit.edu	37	1	237872314	237872314	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A01W-01	TCGA-AG-A01W-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr1:237872314T>C	ENST00000366574.2	+	69	10375	c.10058T>C	c.(10057-10059)cTc>cCc	p.L3353P	RYR2_ENST00000360064.6_Missense_Mutation_p.L3351P|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.L3337P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3353					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.L3351P(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGGCAGAACTCCTCATCCTA	0.478																																					p.L3353P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T10058C	1						.						83.0	83.0	83.0					1																	237872314		1923	4131	6054	235938937	SO:0001583	missense	6262	exon69			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10058T>C	1.37:g.237872314T>C	ENSP00000355533:p.Leu3353Pro		235938937	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.640415	0.47153	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97161	-4.27;-4.24;-4.26	5.51	5.51	0.81932	.	0.000000	0.53938	D	0.000042	D	0.97813	0.9282	M	0.73962	2.25	0.80722	D	1	D	0.71674	0.998	D	0.65010	0.931	D	0.98043	1.0383	10	0.59425	D	0.04	-12.0057	11.6029	0.51015	0.0:0.0:0.1487:0.8513	.	3353	Q92736	RYR2_HUMAN	P	3353;3351;3337;308	ENSP00000355533:L3353P;ENSP00000353174:L3351P;ENSP00000443798:L3337P	ENSP00000353174:L3351P	L	+	2	0	RYR2	235938937	1.000000	0.71417	0.399000	0.26333	0.235000	0.25334	5.028000	0.64115	2.093000	0.63338	0.533000	0.62120	CTC		0.478	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
DYNC2H1	79659	broad.mit.edu	37	11	103049785	103049785	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A01W-01	TCGA-AG-A01W-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr11:103049785A>C	ENST00000375735.2	+	39	6314	c.6170A>C	c.(6169-6171)gAt>gCt	p.D2057A	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D2057A	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2057	AAA 2. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGTGATGGTGATATTGACCCT	0.353																																					p.D2057A												.	.	0			c.A6170C	11						.						124.0	115.0	117.0					11																	103049785		1856	4111	5967	102554995	SO:0001583	missense	79659	exon39			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.6170A>C	11.37:g.103049785A>C	ENSP00000364887:p.Asp2057Ala		102554995	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.470834	0.84533	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	D;D	0.86497	-2.13;-2.13	5.27	5.27	0.74061	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	.	.	.	.	D	0.92685	0.7675	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93202	0.6592	9	0.59425	D	0.04	.	15.4843	0.75551	1.0:0.0:0.0:0.0	.	2057;2057	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	A	2057	ENSP00000364887:D2057A;ENSP00000381167:D2057A	ENSP00000364887:D2057A	D	+	2	0	DYNC2H1	102554995	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.287000	0.95975	2.129000	0.65627	0.477000	0.44152	GAT		0.353	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
DLG2	1740	broad.mit.edu	37	11	83874536	83874536	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr11:83874536C>T	ENST00000532653.1	-	4	579	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	DLG2_ENST00000398301.2_Missense_Mutation_p.E132K|DLG2_ENST00000280241.8_Missense_Mutation_p.E132K|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000531015.1_Missense_Mutation_p.E60K|DLG2_ENST00000543673.1_Missense_Mutation_p.E198K|DLG2_ENST00000376104.2_Missense_Mutation_p.E198K|DLG2_ENST00000398309.2_Missense_Mutation_p.E93K|DLG2_ENST00000524982.1_Missense_Mutation_p.E93K|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000330014.6_Missense_Mutation_p.E32K|DLG2_ENST00000418306.2_Missense_Mutation_p.E42K			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.E93K(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AATTCATATTCAATTTCTGTC	0.323																																					p.E42K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G124A	11						.						82.0	78.0	79.0					11																	83874536		1787	4057	5844	83552184	SO:0001583	missense	1740	exon2			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.277G>A	11.37:g.83874536C>T	ENSP00000435849:p.Glu93Lys		83552184	NM_001142700	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	C	19.35	3.810422	0.70797	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301;ENST00000398299	T;T;T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;2.21;0.81;0.81;0.81;0.81;0.81;0.81;0.81;2.21	5.32	5.32	0.75619	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);PDZ/DHR/GLGF (1);	0.000000	0.64402	D	0.000002	T	0.61388	0.2343	M	0.63843	1.955	0.80722	D	1	P;B;P;D;P;D;B;P	0.61697	0.873;0.285;0.755;0.99;0.93;0.962;0.106;0.657	P;B;P;P;P;P;B;B	0.60173	0.566;0.191;0.752;0.87;0.636;0.6;0.145;0.431	T	0.59359	-0.7469	9	.	.	.	.	14.3785	0.66895	0.0:1.0:0.0:0.0	.	60;93;93;32;132;198;93;42	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	K	93;198;42;198;132;32;93;93;198;60;132;10	ENSP00000381355:E93K;ENSP00000365272:E198K;ENSP00000402275:E42K;ENSP00000441994:E198K;ENSP00000280241:E132K;ENSP00000381353:E32K;ENSP00000432894:E93K;ENSP00000435849:E93K;ENSP00000433848:E60K;ENSP00000381346:E132K;ENSP00000381344:E10K	.	E	-	1	0	DLG2	83552184	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.674000	0.61612	2.753000	0.94483	0.655000	0.94253	GAA		0.323	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364	
NCAM1	4684	broad.mit.edu	37	11	113076335	113076335	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr11:113076335C>T	ENST00000533760.1	+	4	682	c.83C>T	c.(82-84)cCa>cTa	p.P28L	NCAM1_ENST00000316851.7_Missense_Mutation_p.P136L|NCAM1_ENST00000401611.2_Missense_Mutation_p.P145L|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	146	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.P136L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGCTCCCTCCCACCAACCATC	0.527																																					p.P146P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C438T	11						.						153.0	151.0	152.0					11																	113076335		2024	4157	6181	112581545	SO:0001583	missense	4684	exon4				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.83C>T	11.37:g.113076335C>T	ENSP00000473281:p.Pro28Leu		112581545	NM_001076682	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37		.	.	.	.	.	.	.	.	.	.	C	26.7	4.763943	0.89932	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.67171	-0.25;-0.25	5.73	5.73	0.89815	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82426	0.5034	.	.	.	0.80722	D	1	D;D;D;D;D	0.67145	0.996;0.992;0.993;0.992;0.996	P;P;P;D;D	0.65773	0.898;0.898;0.881;0.921;0.938	D	0.83663	0.0162	9	0.72032	D	0.01	-32.1918	19.8991	0.96978	0.0:1.0:0.0:0.0	.	146;146;146;146;146	P13591-5;P13591-1;P13591;P13591-3;P13591-6	.;.;NCAM1_HUMAN;.;.	L	28;145;136	ENSP00000384055:P145L;ENSP00000318472:P136L	ENSP00000318472:P136L	P	+	2	0	NCAM1	112581545	1.000000	0.71417	0.990000	0.47175	0.866000	0.49608	5.838000	0.69388	2.708000	0.92522	0.655000	0.94253	CCA		0.527	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615	
SIM1	6492	broad.mit.edu	37	6	100841613	100841613	+	Silent	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr6:100841613C>T	ENST00000369208.3	-	11	2102	c.1320G>A	c.(1318-1320)tcG>tcA	p.S440S	SIM1_ENST00000262901.4_Silent_p.S440S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	440	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.S440S(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGCTGCGGTCCGAAAACTGTC	0.622																																					p.S440S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G1320A	6						.						84.0	79.0	81.0					6																	100841613		2203	4300	6503	100948334	SO:0001819	synonymous_variant	6492	exon10			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1320G>A	6.37:g.100841613C>T			100948334	NM_005068	Q5TDP7	Silent	SNP	ENST00000369208.3	37	CCDS5045.1																																																																																				0.622	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	
GRIK2	2898	broad.mit.edu	37	6	102483372	102483372	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr6:102483372C>T	ENST00000421544.1	+	14	2732	c.2242C>T	c.(2242-2244)Cgg>Tgg	p.R748W	GRIK2_ENST00000369134.4_Missense_Mutation_p.R699W|GRIK2_ENST00000369137.3_Missense_Mutation_p.R672W|GRIK2_ENST00000369138.1_Missense_Mutation_p.R748W|GRIK2_ENST00000318991.6_Missense_Mutation_p.R748W|GRIK2_ENST00000413795.1_Missense_Mutation_p.R748W	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	748					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R748W(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGTTACCCAGCGGAACTGTAA	0.458																																					p.R748W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2242T	6						.						175.0	178.0	177.0					6																	102483372		2203	4300	6503	102590065	SO:0001583	missense	2898	exon14				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2242C>T	6.37:g.102483372C>T	ENSP00000397026:p.Arg748Trp		102590065	NM_021956	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959914	0.74016	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134;ENST00000540076	T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69	5.46	2.6	0.31112	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.33352	0.0860	M	0.90483	3.12	0.44254	D	0.997109	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.48703	-0.9012	10	0.87932	D	0	.	14.8939	0.70630	0.5112:0.4888:0.0:0.0	.	748;748;748	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	W	748;748;748;672;748;699;523	ENSP00000397026:R748W;ENSP00000405596:R748W;ENSP00000358134:R748W;ENSP00000358133:R672W;ENSP00000313276:R748W;ENSP00000358130:R699W	ENSP00000313276:R748W	R	+	1	2	GRIK2	102590065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.133000	0.42093	0.225000	0.20959	0.655000	0.94253	CGG		0.458	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		
SYNE1	23345	broad.mit.edu	37	6	152686149	152686149	+	Silent	SNP	T	T	C			TCGA-AG-A01W-01	TCGA-AG-A01W-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr6:152686149T>C	ENST00000367255.5	-	63	10579	c.9978A>G	c.(9976-9978)ctA>ctG	p.L3326L	SYNE1_ENST00000341594.5_Silent_p.L3365L|SYNE1_ENST00000448038.1_Silent_p.L3333L|SYNE1_ENST00000265368.4_Silent_p.L3326L|SYNE1_ENST00000423061.1_Silent_p.L3333L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3326					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L3326L(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGACTGATAATAGAGCCTGTG	0.373										HNSCC(10;0.0054)																											p.L3333L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A9999G	6						.						100.0	93.0	96.0					6																	152686149		2203	4300	6503	152727842	SO:0001819	synonymous_variant	23345	exon63			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9978A>G	6.37:g.152686149T>C			152727842	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
RPS6KA2	6196	broad.mit.edu	37	6	166836801	166836801	+	Silent	SNP	G	G	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr6:166836801G>A	ENST00000265678.4	-	17	1909	c.1686C>T	c.(1684-1686)cgC>cgT	p.R562R	RPS6KA2_ENST00000405189.3_Silent_p.R473R|RPS6KA2_ENST00000481261.2_Silent_p.R473R|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000510118.1_Silent_p.R587R|RPS6KA2_ENST00000503859.1_Silent_p.R570R	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	562	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.R570R(1)|p.R562R(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CGTTCCCCGCGCGCAGCTGCT	0.607																																					p.R562R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1686T	6						.						57.0	53.0	55.0					6																	166836801		2203	4300	6503	166756791	SO:0001819	synonymous_variant	6196	exon17			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1686C>T	6.37:g.166836801G>A			166756791	NM_021135	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	CCDS5294.1																																																																																				0.607	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135	
ERMARD	55780	broad.mit.edu	37	6	170159121	170159121	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr6:170159121T>A	ENST00000366773.3	+	6	598	c.565T>A	c.(565-567)Tta>Ata	p.L189I	ERMARD_ENST00000366772.2_Missense_Mutation_p.L189I|ERMARD_ENST00000392095.4_Missense_Mutation_p.L63I|ERMARD_ENST00000588451.1_Missense_Mutation_p.L63I|ERMARD_ENST00000418781.3_Missense_Mutation_p.L189I	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	189					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.L189I(1)									GCGTAACGTCTTATGGCATGG	0.378																																					p.L189I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T565A	6						.						211.0	189.0	197.0					6																	170159121		2203	4300	6503	169901046	SO:0001583	missense	55780	exon6			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.565T>A	6.37:g.170159121T>A	ENSP00000355735:p.Leu189Ile		169901046	NM_018341	B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	T	16.28	3.079570	0.55753	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095	T;T	0.52754	0.69;0.65	5.47	-2.43	0.06522	.	0.000000	0.41712	D	0.000833	T	0.39759	0.1090	L	0.55103	1.725	0.26015	N	0.981936	D;D;D	0.89917	0.996;0.996;1.0	P;P;D	0.87578	0.885;0.885;0.998	T	0.39502	-0.9611	10	0.66056	D	0.02	.	6.3326	0.21279	0.1152:0.2574:0.0:0.6274	.	189;189;189	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	I	189;189;189;63	ENSP00000355735:L189I;ENSP00000375945:L63I	ENSP00000355734:L189I	L	+	1	2	C6orf70	169901046	0.860000	0.29831	0.061000	0.19648	0.312000	0.27988	0.073000	0.14640	-0.717000	0.04955	0.533000	0.62120	TTA		0.378	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341	
FAM50B	26240	broad.mit.edu	37	6	3850928	3850928	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr6:3850928C>T	ENST00000380274.1	+	1	1309	c.883C>T	c.(883-885)Cgc>Tgc	p.R295C	FAM50B_ENST00000380272.3_Missense_Mutation_p.R295C			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	295						nucleus (GO:0005634)		p.R295C(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GGTGGTGCTGCGCAGCTGGTA	0.627																																					p.R295C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C883T	6						.						76.0	64.0	68.0					6																	3850928		2203	4300	6503	3795927	SO:0001583	missense	26240	exon2			Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.883C>T	6.37:g.3850928C>T	ENSP00000369627:p.Arg295Cys		3795927	NM_012135	Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392137	0.62066	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.34	-0.0737	0.13734	.	0.000000	0.85682	D	0.000000	T	0.80160	0.4572	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84188	0.0443	9	0.87932	D	0	-27.9147	12.8376	0.57782	0.6406:0.3594:0.0:0.0	.	295	Q9Y247	FA50B_HUMAN	C	295	.	ENSP00000369625:R295C	R	+	1	0	FAM50B	3795927	1.000000	0.71417	0.962000	0.40283	0.976000	0.68499	1.327000	0.33746	-0.139000	0.11414	-0.410000	0.06199	CGC		0.627	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135	
ZNF292	23036	broad.mit.edu	37	6	87967866	87967866	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr6:87967866G>A	ENST00000369577.3	+	8	4562	c.4519G>A	c.(4519-4521)Gaa>Aaa	p.E1507K	ZNF292_ENST00000339907.4_Missense_Mutation_p.E1502K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1507						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E1507K(1)|p.E1362K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGAGGGTGCCGAAATGCTTTC	0.433																																					p.E1507K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4519A	6						.						41.0	41.0	41.0					6																	87967866		1966	4141	6107	88024585	SO:0001583	missense	23036	exon8			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.4519G>A	6.37:g.87967866G>A	ENSP00000358590:p.Glu1507Lys		88024585	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	9.901	1.206837	0.22205	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.07800	3.16;3.17	5.87	5.87	0.94306	.	0.420327	0.25089	N	0.033222	T	0.03305	0.0096	N	0.24115	0.695	0.43729	D	0.99621	B	0.29766	0.256	B	0.21546	0.035	T	0.47636	-0.9102	10	0.36615	T	0.2	.	18.3838	0.90459	0.0:0.0:1.0:0.0	.	1507	O60281	ZN292_HUMAN	K	1507;1502	ENSP00000358590:E1507K;ENSP00000342847:E1502K	ENSP00000342847:E1502K	E	+	1	0	ZNF292	88024585	0.999000	0.42202	0.794000	0.32065	0.171000	0.22731	3.124000	0.50461	2.779000	0.95612	0.655000	0.94253	GAA		0.433	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
ERMARD	55780	broad.mit.edu	37	6	170168258	170168258	+	Missense_Mutation	SNP	G	G	C	rs200693784		TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr6:170168258G>C	ENST00000366773.3	+	11	1083	c.1050G>C	c.(1048-1050)gaG>gaC	p.E350D	ERMARD_ENST00000366772.2_Missense_Mutation_p.E350D|ERMARD_ENST00000392095.4_Missense_Mutation_p.E224D|RP1-266L20.9_ENST00000586101.1_RNA|ERMARD_ENST00000588451.1_Missense_Mutation_p.E214D|ERMARD_ENST00000418781.3_Missense_Mutation_p.E350D	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	350					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.E350D(1)									TCCTTGGAGAGCCTGCTATGG	0.338																																					p.E350D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1050C	6						.						124.0	121.0	122.0					6																	170168258		2203	4300	6503	169910183	SO:0001583	missense	55780	exon11			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1050G>C	6.37:g.170168258G>C	ENSP00000355735:p.Glu350Asp		169910183	NM_018341	B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477619	0.26511	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095	T;T	0.44083	0.93;0.94	5.1	0.117	0.14652	.	0.216928	0.31601	N	0.007371	T	0.20740	0.0499	L	0.48986	1.54	0.27597	N	0.94908	P;P;B	0.49559	0.925;0.72;0.007	P;B;B	0.47162	0.54;0.275;0.006	T	0.13072	-1.0523	10	0.34782	T	0.22	.	8.018	0.30393	0.7135:0.0:0.2865:0.0	.	350;350;350	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	D	350;350;350;224	ENSP00000355735:E350D;ENSP00000375945:E224D	ENSP00000355734:E350D	E	+	3	2	C6orf70	169910183	0.781000	0.28676	0.960000	0.40013	0.979000	0.70002	-0.403000	0.07214	0.144000	0.18951	0.655000	0.94253	GAG		0.338	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341	
DERL2	51009	broad.mit.edu	37	17	5384619	5384619	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr17:5384619C>T	ENST00000158771.4	-	4	379	c.324G>A	c.(322-324)atG>atA	p.M108I	DERL2_ENST00000572834.1_Intron|DERL2_ENST00000571968.1_5'Flank|DERL2_ENST00000570848.1_Missense_Mutation_p.M108I	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	108					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|retrograde protein transport, ER to cytosol (GO:0030970)|suckling behavior (GO:0001967)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|late endosome (GO:0005770)|membrane (GO:0016020)		p.M108I(1)		large_intestine(3)	3						AGGATACGGTCATTAAGAATC	0.423																																					p.M108I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G324A	17						.						123.0	113.0	117.0					17																	5384619		2203	4300	6503	5325343	SO:0001583	missense	51009	exon4			BC010890	CCDS11073.1	17p13.2	2012-02-01	2012-02-01		ENSG00000072849	ENSG00000072849			17943	protein-coding gene	gene with protein product		610304	"""Der1-like domain family, member 2"""			10810093, 11500051	Standard	NM_016041		Approved	F-LAN-1, FLANa, F-LANa, CGI-101, derlin-2	uc002gcc.1	Q9GZP9	OTTHUMG00000102040	ENST00000158771.4:c.324G>A	17.37:g.5384619C>T	ENSP00000158771:p.Met108Ile		5325343	NM_016041	Q9Y3A7	Missense_Mutation	SNP	ENST00000158771.4	37	CCDS11073.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939175	0.73557	.	.	ENSG00000072849	ENST00000158771	T	0.10668	2.85	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	L	0.56124	1.755	0.80722	D	1	B	0.17038	0.02	B	0.20384	0.029	T	0.06409	-1.0828	10	0.23891	T	0.37	-16.8784	19.609	0.95594	0.0:1.0:0.0:0.0	.	108	Q9GZP9	DERL2_HUMAN	I	108	ENSP00000158771:M108I	ENSP00000158771:M108I	M	-	3	0	DERL2	5325343	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.408000	0.80041	2.882000	0.98803	0.655000	0.94253	ATG		0.423	DERL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219825.1	NM_016041	
C17orf104	284071	broad.mit.edu	37	17	42745338	42745338	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr17:42745338G>T	ENST00000409122.2	+	5	2201	c.2059G>T	c.(2059-2061)Ggg>Tgg	p.G687W	C17orf104_ENST00000409464.1_Missense_Mutation_p.G521W|C17orf104_ENST00000359945.3_Missense_Mutation_p.G687W	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	687								p.G687W(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						TGGTTCAAATGGGTTTCCCCT	0.398																																					p.G687W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2059T	17						.						86.0	79.0	81.0					17																	42745338		2203	4300	6503	40100864	SO:0001583	missense	284071	exon5				CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.2059G>T	17.37:g.42745338G>T	ENSP00000386452:p.Gly687Trp		40100864	NM_001145080	B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	ENST00000409122.2	37	CCDS45703.2	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161171	0.38119	.	.	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000409464	T;T;T	0.33438	1.41;1.41;1.42	5.74	5.74	0.90152	.	0.312048	0.30949	N	0.008559	T	0.42245	0.1194	L	0.34521	1.04	0.32390	N	0.553414	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70487	0.969;0.969;0.969	T	0.52403	-0.8580	10	0.72032	D	0.01	-17.6866	11.3449	0.49554	0.07:0.128:0.8019:0.0	.	687;687;521	A2RUB1-5;A2RUB1;A2RUB1-1	.;CQ104_HUMAN;.	W	687;687;521	ENSP00000353028:G687W;ENSP00000386452:G687W;ENSP00000386586:G521W	ENSP00000353028:G687W	G	+	1	0	C17orf104	40100864	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.186000	0.42593	2.709000	0.92574	0.655000	0.94253	GGG		0.398	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080	
GPRC5C	55890	broad.mit.edu	37	17	72436604	72436604	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr17:72436604C>A	ENST00000392627.1	+	2	1950	c.824C>A	c.(823-825)gCc>gAc	p.A275D	GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.A242D|GPRC5C_ENST00000342648.5_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	230					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)	p.A275D(1)		central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GCCTGGCCCGCCCTGTGTGGC	0.617																																					p.A242D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C725A	17						.						45.0	38.0	40.0					17																	72436604		2203	4300	6503	69948199	SO:0001583	missense	55890	exon2			AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.824C>A	17.37:g.72436604C>A	ENSP00000376403:p.Ala275Asp		69948199	NM_018653	B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000392627.1	37	CCDS11699.1	.	.	.	.	.	.	.	.	.	.	C	8.441	0.850801	0.17034	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000392629;ENST00000392628	T	0.19938	2.11	5.79	2.28	0.28536	GPCR, family 3, C-terminal (2);	0.590250	0.19646	N	0.109334	T	0.24851	0.0603	L	0.61218	1.895	0.34301	D	0.684311	B;B;B	0.26602	0.154;0.154;0.127	B;B;B	0.31337	0.128;0.128;0.078	T	0.39683	-0.9602	10	0.87932	D	0	-3.6418	11.8626	0.52476	0.0:0.7753:0.0:0.2247	.	230;230;242	A8MXZ4;Q9NQ84;Q9NQ84-2	.;GPC5C_HUMAN;.	D	230;275;242;230	ENSP00000376405:A242D	ENSP00000340595:A275D	A	+	2	0	GPRC5C	69948199	0.004000	0.15560	0.698000	0.30274	0.013000	0.08279	1.629000	0.37071	0.796000	0.33947	0.561000	0.74099	GCC		0.617	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2		
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.R248W	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,haematopoietic_and_lymphoid_tissue,lymph_node,Substitution - Missense,+1	.	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	c.C742T	17	GRCh37	CM010465|CM900211	TP53	M	rs121912651	.						151.0	112.0	125.0					17																	7577539		2203	4300	6503	7518264	SO:0001583	missense	7157	exon7	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		7518264	NM_001126114	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
USH1G	124590	broad.mit.edu	37	17	72915979	72915979	+	Missense_Mutation	SNP	G	G	A	rs558361799		TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr17:72915979G>A	ENST00000319642.1	-	2	1134	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	318					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)	p.R318C(1)	HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					TAATTTCTGCGGAACACCATG	0.701																																					p.R318C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C952T	17						.						58.0	71.0	67.0					17																	72915979		2203	4299	6502	70427574	SO:0001583	missense	124590	exon2			AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.952C>T	17.37:g.72915979G>A	ENSP00000320076:p.Arg318Cys		70427574	NM_173477	Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436279	0.62955	.	.	ENSG00000182040	ENST00000319642	T	0.75477	-0.94	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	D	0.82879	0.5133	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.83718	0.0191	10	0.54805	T	0.06	-25.1404	11.2464	0.49000	0.0:0.0:0.685:0.315	.	318	Q495M9	USH1G_HUMAN	C	318	ENSP00000320076:R318C	ENSP00000320076:R318C	R	-	1	0	USH1G	70427574	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.420000	0.52735	2.275000	0.75901	0.555000	0.69702	CGC		0.701	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477	
TMEM8A	58986	broad.mit.edu	37	16	424063	424063	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr16:424063C>A	ENST00000431232.2	-	11	2004	c.1844G>T	c.(1843-1845)gGg>gTg	p.G615V	TMEM8A_ENST00000250930.3_Missense_Mutation_p.G422V	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	615					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)		p.G615V(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GATGGCCGCCCCGGAGCCCAA	0.657											OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.G615V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1844T	16						.						58.0	55.0	56.0					16																	424063		2198	4297	6495	364064	SO:0001583	missense	58986	exon11			AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1844G>T	16.37:g.424063C>A	ENSP00000401338:p.Gly615Val	588	364064	NM_021259	D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	37	CCDS10407.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.790|6.790	0.514691|0.514691	0.12944|0.12944	.|.	.|.	ENSG00000129925|ENSG00000129925	ENST00000431232;ENST00000250930;ENST00000382942;ENST00000448854|ENST00000424078	T;T;T|T	0.38240|0.43294	1.15;1.15;1.15|0.95	3.94|3.94	2.9|2.9	0.33743|0.33743	.|.	0.238534|0.238534	0.27668|0.27668	N|N	0.018354|0.018354	T|T	0.27063|0.27063	0.0663|0.0663	N|N	0.04880|0.04880	-0.145|-0.145	0.58432|0.58432	D|D	0.999996|0.999996	B|.	0.12013|.	0.005|.	B|.	0.19666|.	0.026|.	T|T	0.17961|0.17961	-1.0352|-1.0352	10|8	0.17369|0.66056	T|D	0.5|0.02	-15.2333|-15.2333	9.7205|9.7205	0.40300|0.40300	0.6135:0.3865:0.0:0.0|0.6135:0.3865:0.0:0.0	.|.	615|.	Q9HCN3|.	TMM8A_HUMAN|.	V|W	615;422;142;163|122	ENSP00000401338:G615V;ENSP00000250930:G422V;ENSP00000401931:G163V|ENSP00000397620:G122W	ENSP00000250930:G422V|ENSP00000397620:G122W	G|G	-|-	2|1	0|0	TMEM8A|TMEM8A	364064|364064	0.982000|0.982000	0.34865|0.34865	0.632000|0.632000	0.29296|0.29296	0.429000|0.429000	0.31625|0.31625	5.597000|5.597000	0.67577|0.67577	0.834000|0.834000	0.34852|0.34852	0.563000|0.563000	0.77884|0.77884	GGG|GGG		0.657	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259	
EDC4	23644	broad.mit.edu	37	16	67916939	67916939	+	Silent	SNP	C	C	T	rs144428519	byFrequency	TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr16:67916939C>T	ENST00000358933.5	+	27	3947	c.3708C>T	c.(3706-3708)gcC>gcT	p.A1236A	NRN1L_ENST00000576147.1_5'Flank|NRN1L_ENST00000339176.3_5'Flank|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1236					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.A1236A(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		AGCAGCAGGCCGCCGTCACCT	0.612											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A1236A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3708T	16						.	C		0,4396		0,0,2198	73.0	63.0	67.0		3708	-11.4	0.0	16	dbSNP_134	67	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	EDC4	NM_014329.3		0,6,6492	TT,TC,CC		0.0698,0.0,0.0462		1236/1402	67916939	6,12990	2198	4300	6498	66474440	SO:0001819	synonymous_variant	23644	exon27			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.3708C>T	16.37:g.67916939C>T		1103	66474440	NM_014329	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	37	CCDS10849.1																																																																																				0.612	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329	
DHODH	1723	broad.mit.edu	37	16	72057435	72057435	+	Missense_Mutation	SNP	C	C	T	rs201947120		TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr16:72057435C>T	ENST00000219240.4	+	8	1057	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	DHODH_ENST00000572887.1_Missense_Mutation_p.R344W	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	346			R -> W (in POADS). {ECO:0000269|PubMed:19915526}.		'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)	p.R346W(1)		breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	GGAGAAGATCCGGGCAGGGGC	0.612																																					p.R346W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1036T	16						.	C	TRP/ARG	0,4052		0,0,2026	66.0	76.0	73.0		1036	5.5	1.0	16		73	2,8360		0,2,4179	yes	missense	DHODH	NM_001361.4	101	0,2,6205	TT,TC,CC		0.0239,0.0,0.0161	probably-damaging	346/396	72057435	2,12412	2026	4181	6207	70614936	SO:0001583	missense	1723	exon8				CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"""dihydroorotate dehydrogenase"""			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.1036C>T	16.37:g.72057435C>T	ENSP00000219240:p.Arg346Trp		70614936	NM_001361	A8K8C8|Q6P176	Missense_Mutation	SNP	ENST00000219240.4	37	CCDS42192.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042565	0.93685	0.0	2.39E-4	ENSG00000102967	ENST00000219240	D	0.94417	-3.42	5.48	5.48	0.80851	Aldolase-type TIM barrel (1);Dihydroorotate dehydrogenase, conserved site (1);	0.161254	0.56097	D	0.000021	D	0.98128	0.9382	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.98842	1.0755	10	0.87932	D	0	-10.9133	19.7014	0.96054	0.0:1.0:0.0:0.0	.	346	Q02127	PYRD_HUMAN	W	346	ENSP00000219240:R346W	ENSP00000219240:R346W	R	+	1	2	DHODH	70614936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.506000	0.60428	2.733000	0.93635	0.561000	0.74099	CGG		0.612	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001361	
CCDC178	374864	broad.mit.edu	37	18	30672801	30672801	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A01W-01	TCGA-AG-A01W-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr18:30672801A>G	ENST00000383096.3	-	21	2494	c.2312T>C	c.(2311-2313)tTa>tCa	p.L771S	CCDC178_ENST00000581852.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.L771S|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.L771S|CCDC178_ENST00000300227.8_Missense_Mutation_p.L733S|CCDC178_ENST00000402325.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.L771S|CCDC178_ENST00000403303.1_Missense_Mutation_p.L771S			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	771								p.L733S(1)|p.L771S(1)									CTTTTCTTTTAAGAATGTAAT	0.264																																					p.L733S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2198C	18						.						45.0	49.0	47.0					18																	30672801		2200	4282	6482	28926799	SO:0001583	missense	374864	exon20			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2312T>C	18.37:g.30672801A>G	ENSP00000372576:p.Leu771Ser		28926799	NM_198995	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	A	6.475	0.455818	0.12283	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524	T;T;T;T	0.35236	1.39;1.39;1.49;1.32	5.84	5.84	0.93424	.	.	.	.	.	T	0.47746	0.1462	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.988;0.988;0.988;0.988	T	0.30327	-0.9982	9	0.09590	T	0.72	-2.3701	15.205	0.73173	1.0:0.0:0.0:0.0	.	771;771;733;771	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	S	771;771;733;771	ENSP00000385591:L771S;ENSP00000372576:L771S;ENSP00000300227:L733S;ENSP00000385867:L771S	ENSP00000300227:L733S	L	-	2	0	C18orf34	28926799	1.000000	0.71417	0.212000	0.23672	0.154000	0.21943	5.672000	0.68102	2.236000	0.73375	0.528000	0.53228	TTA		0.264	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995	
SMAD2	4087	broad.mit.edu	37	18	45394753	45394753	+	Missense_Mutation	SNP	G	G	C	rs576952880		TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr18:45394753G>C	ENST00000402690.2	-	5	990	c.596C>G	c.(595-597)tCc>tGc	p.S199C	SMAD2_ENST00000356825.4_Missense_Mutation_p.S169C|SMAD2_ENST00000587353.1_5'UTR|SMAD2_ENST00000586040.1_Missense_Mutation_p.S169C|SMAD2_ENST00000262160.6_Missense_Mutation_p.S199C|SMAD2_ENST00000591214.1_Missense_Mutation_p.S169C	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	199					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.S199C(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TTCTGGAATGGAGTGAGTATA	0.418																																					p.S169C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C506G	18						.						117.0	110.0	112.0					18																	45394753		2203	4300	6503	43648751	SO:0001583	missense	4087	exon4			U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.596C>G	18.37:g.45394753G>C	ENSP00000384449:p.Ser199Cys		43648751	NM_001135937		Missense_Mutation	SNP	ENST00000402690.2	37	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	G	33	5.233724	0.95207	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	D;D;D	0.94576	-3.46;-3.45;-3.46	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.97018	0.9026	M	0.77820	2.39	0.80722	D	1	D;B;B	0.71674	0.998;0.036;0.096	D;B;B	0.63033	0.91;0.046;0.062	D	0.97003	0.9730	10	0.66056	D	0.02	.	19.9474	0.97186	0.0:0.0:1.0:0.0	.	169;169;199	B7Z5N5;Q15796-2;Q15796	.;.;SMAD2_HUMAN	C	199;169;199	ENSP00000262160:S199C;ENSP00000349282:S169C;ENSP00000384449:S199C	ENSP00000262160:S199C	S	-	2	0	SMAD2	43648751	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.819000	0.86621	2.774000	0.95407	0.655000	0.94253	TCC		0.418	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901	
ZNF532	55205	broad.mit.edu	37	18	56586498	56586498	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr18:56586498C>A	ENST00000336078.4	+	4	1755	c.979C>A	c.(979-981)Cca>Aca	p.P327T	ZNF532_ENST00000591083.1_Missense_Mutation_p.P327T|ZNF532_ENST00000591808.1_Missense_Mutation_p.P327T|ZNF532_ENST00000591230.1_Missense_Mutation_p.P327T|ZNF532_ENST00000589288.1_Missense_Mutation_p.P327T	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	327					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P327T(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GACCAAAAAACCATCCCTGAA	0.532																																					p.P327T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C979A	18						.						101.0	103.0	102.0					18																	56586498		2203	4300	6503	54737478	SO:0001583	missense	55205	exon4			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.979C>A	18.37:g.56586498C>A	ENSP00000338217:p.Pro327Thr		54737478	NM_018181	Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	c	0.009	-1.800533	0.00611	.	.	ENSG00000074657	ENST00000336078	T	0.01505	4.82	4.97	0.878	0.19150	.	0.887861	0.09989	N	0.729997	T	0.01905	0.0060	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47071	-0.9145	10	0.19147	T	0.46	-8.4553	7.648	0.28331	0.0718:0.3877:0.4393:0.1012	.	327	Q9HCE3	ZN532_HUMAN	T	327	ENSP00000338217:P327T	ENSP00000338217:P327T	P	+	1	0	ZNF532	54737478	0.000000	0.05858	0.010000	0.14722	0.040000	0.13550	0.364000	0.20325	0.508000	0.28173	-0.324000	0.08512	CCA		0.532	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181	
CBLB	868	broad.mit.edu	37	3	105459353	105459353	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr3:105459353C>A	ENST00000264122.4	-	7	1289	c.968G>T	c.(967-969)gGc>gTc	p.G323V	CBLB_ENST00000403724.1_Missense_Mutation_p.G323V|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Missense_Mutation_p.G323V|CBLB_ENST00000394027.3_Missense_Mutation_p.G345V	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	323	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G323V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTCCCTGCTGCCATCAATCAG	0.418			Mis S		AML																																p.G323V	GBM(93;588 1337 9788 29341 43499)		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G968T	3						.						139.0	120.0	127.0					3																	105459353		2203	4300	6503	106942043	SO:0001583	missense	868	exon7			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.968G>T	3.37:g.105459353C>A	ENSP00000264122:p.Gly323Val		106942043	NM_170662	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169737	0.78452	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.73	4.86	0.63082	Adaptor protein Cbl, PTB domain (1);SH2 motif (2);Adaptor protein Cbl, SH2-like (1);	0.000000	0.85682	D	0.000000	D	0.92522	0.7625	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93543	0.6879	10	0.87932	D	0	-15.3322	14.8526	0.70309	0.0:0.931:0.0:0.069	.	345;323;323	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	V	323;345;323;323	ENSP00000264122:G323V;ENSP00000377595:G345V;ENSP00000384816:G323V;ENSP00000384938:G323V	ENSP00000264122:G323V	G	-	2	0	CBLB	106942043	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.479000	0.81095	1.423000	0.47198	0.650000	0.86243	GGC		0.418	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662	
A4GNT	51146	broad.mit.edu	37	3	137849958	137849958	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr3:137849958G>C	ENST00000236709.3	-	2	342	c.141C>G	c.(139-141)agC>agG	p.S47R		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	47					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)	p.S47R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						CACGTCTGTGGCTCAGGAGGG	0.532																																					p.S47R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C141G	3						.						80.0	82.0	82.0					3																	137849958		2203	4300	6503	139332648	SO:0001583	missense	51146	exon2			AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.141C>G	3.37:g.137849958G>C	ENSP00000236709:p.Ser47Arg		139332648	NM_016161	Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.091886	0.00364	.	.	ENSG00000118017	ENST00000236709	T	0.80480	-1.38	5.42	0.853	0.19001	.	0.602435	0.15765	N	0.245754	T	0.50377	0.1612	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38478	-0.9659	10	0.14656	T	0.56	-1.1079	5.3855	0.16216	0.07:0.2098:0.5078:0.2124	.	47	Q9UNA3	A4GCT_HUMAN	R	47	ENSP00000236709:S47R	ENSP00000236709:S47R	S	-	3	2	A4GNT	139332648	0.063000	0.20901	0.285000	0.24819	0.023000	0.10783	0.593000	0.23999	0.219000	0.20840	0.561000	0.74099	AGC		0.532	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161	
SCN10A	6336	broad.mit.edu	37	3	38753913	38753913	+	Silent	SNP	G	G	A	rs375572917		TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr3:38753913G>A	ENST00000449082.2	-	22	3827	c.3828C>T	c.(3826-3828)ggC>ggT	p.G1276G		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1276					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.G1276G(2)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ATGGGATGGCGCCCACCAGGG	0.542																																					p.G1276G												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C3828T	3						.	G		0,4406		0,0,2203	84.0	81.0	82.0		3828	-5.4	0.8	3		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SCN10A	NM_006514.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1276/1957	38753913	1,13005	2203	4300	6503	38728917	SO:0001819	synonymous_variant	6336	exon22			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3828C>T	3.37:g.38753913G>A			38728917	NM_006514	A6NDQ1	Silent	SNP	ENST00000449082.2	37	CCDS33736.1																																																																																				0.542	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
BSN	8927	broad.mit.edu	37	3	49699686	49699686	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr3:49699686C>T	ENST00000296452.4	+	6	10522	c.10408C>T	c.(10408-10410)Cgg>Tgg	p.R3470W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3470					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.R3470W(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CGAAAGGGAACGGGAGGCTGT	0.637																																					p.R3470W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10408T	3						.						46.0	52.0	50.0					3																	49699686		2203	4300	6503	49674690	SO:0001583	missense	8927	exon6			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.10408C>T	3.37:g.49699686C>T	ENSP00000296452:p.Arg3470Trp		49674690	NM_003458	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	5.724	0.318101	0.10845	.	.	ENSG00000164061	ENST00000296452	T	0.20069	2.1	5.81	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.37265	0.0997	L	0.40543	1.245	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.05533	-1.0879	10	0.72032	D	0.01	-22.2479	14.3088	0.66403	0.2636:0.7364:0.0:0.0	.	3470	Q9UPA5	BSN_HUMAN	W	3470	ENSP00000296452:R3470W	ENSP00000296452:R3470W	R	+	1	2	BSN	49674690	0.256000	0.24012	0.933000	0.37362	0.427000	0.31564	0.778000	0.26732	2.745000	0.94114	0.655000	0.94253	CGG		0.637	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
ROBO2	6092	broad.mit.edu	37	3	77666710	77666710	+	Silent	SNP	T	T	C			TCGA-AG-A01W-01	TCGA-AG-A01W-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr3:77666710T>C	ENST00000461745.1	+	22	4240	c.3340T>C	c.(3340-3342)Tta>Cta	p.L1114L	ROBO2_ENST00000487694.3_Silent_p.L1130L|ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Silent_p.L1114L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1114					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.L1114L(1)|p.L1130L(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACAAACTTACTTACACCAAGG	0.428																																					p.L1094P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T3281C	3						.						129.0	118.0	121.0					3																	77666710		1983	4169	6152	77749400	SO:0001819	synonymous_variant	6092	exon21			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3340T>C	3.37:g.77666710T>C			77749400	NM_001128929	O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	CCDS43109.1																																																																																				0.428	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
PLCH1	23007	broad.mit.edu	37	3	155200316	155200316	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr3:155200316T>A	ENST00000340059.7	-	23	3522	c.3523A>T	c.(3523-3525)Agt>Tgt	p.S1175C	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Missense_Mutation_p.S1137C|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1137C|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1137C	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1175					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.S1137C(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GAAATTACACTCTCCTGCAGA	0.458																																					p.S1175C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3523T	3						.						72.0	72.0	72.0					3																	155200316		2203	4300	6503	156683010	SO:0001583	missense	23007	exon23			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3523A>T	3.37:g.155200316T>A	ENSP00000345988:p.Ser1175Cys		156683010	NM_001130960	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.339585	0.81911	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.57	4.37	0.52481	.	0.498534	0.22562	N	0.058458	T	0.49218	0.1544	L	0.32530	0.975	0.37343	D	0.91048	D;D	0.63046	0.988;0.992	P;P	0.54706	0.759;0.579	T	0.58999	-0.7536	10	0.87932	D	0	.	12.0085	0.53274	0.1291:0.0:0.0:0.8709	.	1137;1175	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	C	1137;1175;1137;1137	ENSP00000417502:S1137C;ENSP00000345988:S1175C;ENSP00000335469:S1137C;ENSP00000412977:S1137C	ENSP00000335469:S1137C	S	-	1	0	PLCH1	156683010	1.000000	0.71417	0.976000	0.42696	0.978000	0.69477	4.651000	0.61447	2.116000	0.64780	0.482000	0.46254	AGT		0.458	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	
DNAH10	196385	broad.mit.edu	37	12	124293412	124293412	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr12:124293412C>T	ENST00000409039.3	+	18	2727	c.2702C>T	c.(2701-2703)aCg>aTg	p.T901M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	901	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T719M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCATTCTGACGGCACCTGAG	0.468																																					p.T901M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2702T	12						.						336.0	294.0	308.0					12																	124293412		2203	4300	6503	122859365	SO:0001583	missense	196385	exon18			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2702C>T	12.37:g.124293412C>T	ENSP00000386770:p.Thr901Met		122859365	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827686	0.32329	.	.	ENSG00000197653	ENST00000409039	T	0.22134	1.97	5.72	3.79	0.43588	.	0.562003	0.16078	N	0.230660	T	0.30665	0.0772	L	0.29908	0.895	0.27905	N	0.938843	D;D;P	0.63880	0.993;0.963;0.834	P;P;B	0.59221	0.854;0.696;0.238	T	0.14172	-1.0482	10	0.40728	T	0.16	.	16.1603	0.81700	0.0:0.7486:0.2514:0.0	.	901;776;901	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	M	901	ENSP00000386770:T901M	ENSP00000386770:T901M	T	+	2	0	DNAH10	122859365	0.983000	0.35010	0.330000	0.25442	0.173000	0.22820	2.571000	0.45990	1.383000	0.46405	0.655000	0.94253	ACG		0.468	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
MMP17	4326	broad.mit.edu	37	12	132325289	132325289	+	Silent	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr12:132325289C>T	ENST00000360564.1	+	4	696	c.594C>T	c.(592-594)taC>taT	p.Y198Y	MMP17_ENST00000535291.1_Silent_p.Y114Y|MMP17_ENST00000535182.1_3'UTR	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	198					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Y198Y(1)|p.N198N(1)		endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	ACGACGGCTACCCCTTCGACG	0.677																																					p.Y198Y												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C594T	12						.						66.0	57.0	60.0					12																	132325289		2203	4300	6503	130891242	SO:0001819	synonymous_variant	4326	exon4			X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.594C>T	12.37:g.132325289C>T			130891242	NM_016155	Q14850	Silent	SNP	ENST00000360564.1	37	CCDS31927.1																																																																																				0.677	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155	
KRAS	3845	broad.mit.edu	37	12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	rs112445441		TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr12:25398281C>T	ENST00000256078.4	-	2	101	c.38G>A	c.(37-39)gGc>gAc	p.G13D	KRAS_ENST00000556131.1_Missense_Mutation_p.G13D|KRAS_ENST00000557334.1_Missense_Mutation_p.G13D|KRAS_ENST00000311936.3_Missense_Mutation_p.G13D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:3627975}.|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway). {ECO:0000269|PubMed:16247081}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G13D(3223)|p.G13V(33)|p.G13A(28)|p.G13E(3)|p.G13I(1)|p.G13N(1)|p.G13_V14>DI(1)|p.G13R(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT116_LARGE_INTESTINE)|G13D(HCT15_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(MDAMB231_BREAST)|G13D(NCIH647_LUNG)|G13D(NCIH747_LARGE_INTESTINE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(T84_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.G13D	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS,lung,NS,Substitution - Missense,-1	.	3291	Substitution - Missense(3290)|Complex - compound substitution(1)	large_intestine(2808)|haematopoietic_and_lymphoid_tissue(94)|lung(92)|endometrium(54)|soft_tissue(38)|ovary(38)|stomach(32)|pancreas(30)|thyroid(27)|biliary_tract(21)|prostate(20)|breast(10)|cervix(4)|gastrointestinal_tract_(site_indeterminate)(3)|upper_aerodigestive_tract(3)|urinary_tract(3)|liver(3)|salivary_gland(3)|small_intestine(3)|oesophagus(2)|skin(1)|genital_tract(1)|bone(1)	c.G38A	12						.						88.0	78.0	82.0					12																	25398281		2203	4300	6503	25289548	SO:0001583	missense	3845	exon2	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.38G>A	12.37:g.25398281C>T	ENSP00000256078:p.Gly13Asp		25289548	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867862	0.91587	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	D;T;T;T	0.82803	-1.65;-0.7;-0.7;-0.7	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90079	0.6901	M	0.93062	3.375	0.80722	D	1	B;P	0.43314	0.215;0.803	B;P	0.46172	0.175;0.506	D	0.92106	0.5692	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	13;13	P01116-2;P01116	.;RASK_HUMAN	D	13	ENSP00000308495:G13D;ENSP00000452512:G13D;ENSP00000256078:G13D;ENSP00000451856:G13D	ENSP00000256078:G13D	G	-	2	0	KRAS	25289548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGC		0.338	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
ITPR2	3709	broad.mit.edu	37	12	26640015	26640015	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr12:26640015C>G	ENST00000381340.3	-	40	5956	c.5540G>C	c.(5539-5541)gGt>gCt	p.G1847A		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1847					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.G1847A(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CATTCGTGGACCAGATGTCAT	0.363																																					p.G1847A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5540C	12						.						206.0	189.0	194.0					12																	26640015		1877	4114	5991	26531282	SO:0001583	missense	3709	exon40			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5540G>C	12.37:g.26640015C>G	ENSP00000370744:p.Gly1847Ala		26531282	NM_002223	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	4.384	0.070883	0.08436	.	.	ENSG00000123104	ENST00000381340	D	0.89746	-2.56	4.39	4.39	0.52855	.	0.155778	0.39020	N	0.001492	T	0.76133	0.3945	N	0.19112	0.55	0.26056	N	0.981415	B	0.16603	0.018	B	0.14023	0.01	T	0.57539	-0.7794	10	0.08179	T	0.78	.	7.8191	0.29278	0.2266:0.6301:0.1433:0.0	.	1847	Q14571	ITPR2_HUMAN	A	1847	ENSP00000370744:G1847A	ENSP00000370744:G1847A	G	-	2	0	ITPR2	26531282	0.202000	0.23423	0.167000	0.22817	0.996000	0.88848	1.612000	0.36889	2.745000	0.94114	0.650000	0.86243	GGT		0.363	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
KRT75	9119	broad.mit.edu	37	12	52827639	52827639	+	Silent	SNP	G	G	A	rs138137930		TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr12:52827639G>A	ENST00000252245.5	-	1	670	c.450C>T	c.(448-450)cgC>cgT	p.R150R		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	150	Coil 1A.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R150R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGATCTGCTCGCGCTCCTCGG	0.562																																					p.R150R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C450T	12						.						148.0	149.0	149.0					12																	52827639		2203	4300	6503	51113906	SO:0001819	synonymous_variant	9119	exon1			Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.450C>T	12.37:g.52827639G>A			51113906	NM_004693	B4DQU4|Q9NSA9	Silent	SNP	ENST00000252245.5	37	CCDS8827.1																																																																																				0.562	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693	
POLE	5426	broad.mit.edu	37	12	133209349	133209349	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr12:133209349C>T	ENST00000320574.5	-	44	6080	c.6037G>A	c.(6037-6039)Gac>Aac	p.D2013N	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.D1986N	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2013			D -> N. {ECO:0000269|PubMed:23263490}.		base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.D2013N(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CTCAGCCCGTCCTTCATGCAG	0.677								DNA polymerases (catalytic subunits)																													p.D2013N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6037A	12						.						41.0	42.0	42.0					12																	133209349		2202	4299	6501	131719422	SO:0001583	missense	5426	exon44				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6037G>A	12.37:g.133209349C>T	ENSP00000322570:p.Asp2013Asn		131719422	NM_006231	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417824	0.42918	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.46451	0.87;0.87;0.87	5.58	5.58	0.84498	.	0.323797	0.36066	N	0.002813	T	0.30166	0.0756	N	0.14661	0.345	0.34590	D	0.715395	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20706	-1.0267	10	0.24483	T	0.36	.	19.6185	0.95645	0.0:1.0:0.0:0.0	.	2013;223	Q07864;B3KS74	DPOE1_HUMAN;.	N	223;2013;2024;1986	ENSP00000322570:D2013N;ENSP00000406383:D2024N;ENSP00000445753:D1986N	ENSP00000322570:D2013N	D	-	1	0	POLE	131719422	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	4.714000	0.61902	2.644000	0.89710	0.478000	0.44815	GAC		0.677	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	
ATP10A	57194	broad.mit.edu	37	15	25940178	25940178	+	Missense_Mutation	SNP	G	G	T	rs571308575		TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr15:25940178G>T	ENST00000356865.6	-	14	2987	c.2876C>A	c.(2875-2877)cCa>cAa	p.P959Q		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	959					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.P959Q(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CGTGGAGGGTGGGCAGAGAGA	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		18070	0.001		0.0	False		,,,				2504	0.0				p.P959Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2876A	15						.						123.0	112.0	116.0					15																	25940178		2203	4300	6503	23491271	SO:0001583	missense	57194	exon14			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2876C>A	15.37:g.25940178G>T	ENSP00000349325:p.Pro959Gln		23491271	NM_024490	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641244	0.47153	.	.	ENSG00000206190	ENST00000356865	T	0.78595	-1.19	4.91	1.95	0.26073	HAD-like domain (1);	1.249030	0.05050	N	0.477913	D	0.83631	0.5296	M	0.71581	2.175	0.09310	N	1	P	0.45827	0.867	P	0.60609	0.877	T	0.62656	-0.6808	10	0.19147	T	0.46	-0.3615	4.3327	0.11071	0.2484:0.0:0.5922:0.1594	.	959	O60312	AT10A_HUMAN	Q	959	ENSP00000349325:P959Q	ENSP00000349325:P959Q	P	-	2	0	ATP10A	23491271	0.036000	0.19791	0.000000	0.03702	0.068000	0.16541	1.612000	0.36889	0.246000	0.21394	0.563000	0.77884	CCA		0.592	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
ANKDD1A	348094	broad.mit.edu	37	15	65239626	65239626	+	Silent	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr15:65239626C>T	ENST00000380230.3	+	13	1193	c.1164C>T	c.(1162-1164)gaC>gaT	p.D388D	ANKDD1A_ENST00000395720.1_Silent_p.D388D|ANKDD1A_ENST00000357698.3_Silent_p.D356D|ANKDD1A_ENST00000395723.1_Silent_p.D265D	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	388					signal transduction (GO:0007165)			p.D388D(1)		NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CCCCACAGGACCACCCCAGTG	0.612																																					p.D388D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1164T	15						.						42.0	41.0	42.0					15																	65239626		2202	4299	6501	63026679	SO:0001819	synonymous_variant	348094	exon13				CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.1164C>T	15.37:g.65239626C>T			63026679	NM_182703	Q495B2|Q495B3|Q8N7A0|Q8NBS5	Silent	SNP	ENST00000380230.3	37	CCDS10197.2																																																																																				0.612	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703	
CSK	1445	broad.mit.edu	37	15	75094100	75094100	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr15:75094100C>T	ENST00000220003.9	+	11	1681	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	CSK_ENST00000439220.2_Missense_Mutation_p.R318C|CSK_ENST00000309470.9_Missense_Mutation_p.R318C|CSK_ENST00000567571.1_Missense_Mutation_p.R318C	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	318	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)	p.R318C(1)		central_nervous_system(1)|lung(2)	3						CCTGGCTGCCCGCAATGTGCT	0.602																																					p.R318C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C952T	15						.						66.0	64.0	65.0					15																	75094100		2197	4296	6493	72881153	SO:0001583	missense	1445	exon11				CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"""SH2 domain containing"""	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.952C>T	15.37:g.75094100C>T	ENSP00000220003:p.Arg318Cys		72881153	NM_004383	Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406604	0.62399	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000451345;ENST00000309470	D;D;D	0.87966	-2.32;-2.32;-2.32	4.62	3.7	0.42460	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.052333	0.85682	D	0.000000	D	0.94788	0.8317	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93958	0.7238	10	0.54805	T	0.06	-20.437	8.2878	0.31939	0.1557:0.7596:0.0:0.0847	.	318	P41240	CSK_HUMAN	C	318;318;267;318	ENSP00000220003:R318C;ENSP00000414764:R318C;ENSP00000438808:R318C	ENSP00000220003:R318C	R	+	1	0	CSK	72881153	0.909000	0.30893	1.000000	0.80357	0.972000	0.66771	1.469000	0.35343	1.162000	0.42619	0.561000	0.74099	CGC		0.602	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	NM_004383	
BNC1	646	broad.mit.edu	37	15	83935704	83935704	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr15:83935704G>A	ENST00000345382.2	-	3	404	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R100C	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	107					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R107C(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ATTTTTAGGCGAACGGGGATG	0.512																																					p.R107C												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.C319T	15						.						107.0	99.0	102.0					15																	83935704		2203	4300	6503	81726708	SO:0001583	missense	646	exon3			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.319C>T	15.37:g.83935704G>A	ENSP00000307041:p.Arg107Cys		81726708	NM_001717	Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136508	0.94517	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	D	0.86956	-2.19	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.93556	0.7943	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93593	0.6923	10	0.87932	D	0	-34.9268	19.614	0.95622	0.0:0.0:1.0:0.0	.	100;107	F5GY04;Q01954	.;BNC1_HUMAN	C	107;100	ENSP00000307041:R107C	ENSP00000307041:R107C	R	-	1	0	BNC1	81726708	1.000000	0.71417	0.997000	0.53966	0.919000	0.55068	9.554000	0.98121	2.873000	0.98535	0.561000	0.74099	CGC		0.512	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717	
SPATA8	145946	broad.mit.edu	37	15	97327442	97327442	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A01W-01	TCGA-AG-A01W-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr15:97327442A>C	ENST00000328504.3	+	2	416	c.149A>C	c.(148-150)aAg>aCg	p.K50T	SPATA8-AS1_ENST00000560888.1_RNA|SPATA8-AS1_ENST00000558722.1_RNA|SPATA8_ENST00000558553.1_Missense_Mutation_p.Q9H	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	50								p.K50T(1)		large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			AGGCCTTTCAAGGGTGGCCCA	0.587																																					p.K50T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A149C	15						.						66.0	64.0	65.0					15																	97327442		2197	4298	6495	95128446	SO:0001583	missense	145946	exon2			AY489187	CCDS10376.1	15q26	2008-02-05			ENSG00000185594	ENSG00000185594			28676	protein-coding gene	gene with protein product		613948					Standard	NM_173499		Approved	MGC44294	uc002bue.3	Q6RVD6	OTTHUMG00000149847	ENST00000328504.3:c.149A>C	15.37:g.97327442A>C	ENSP00000328149:p.Lys50Thr		95128446	NM_173499	Q2KJ07	Missense_Mutation	SNP	ENST00000328504.3	37	CCDS10376.1	.	.	.	.	.	.	.	.	.	.	A	9.113	1.007129	0.19199	.	.	ENSG00000185594	ENST00000328504	T	0.37915	1.17	2.75	-2.46	0.06461	.	.	.	.	.	T	0.17874	0.0429	N	0.08118	0	0.09310	N	1	P	0.45827	0.867	P	0.44477	0.451	T	0.12372	-1.0550	9	0.87932	D	0	.	3.1463	0.06473	0.5315:0.0:0.2496:0.2189	.	50	Q6RVD6	SPAT8_HUMAN	T	50	ENSP00000328149:K50T	ENSP00000328149:K50T	K	+	2	0	SPATA8	95128446	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.479000	0.02327	-0.556000	0.06134	-0.366000	0.07423	AAG		0.587	SPATA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313533.1	NM_173499	
CORIN	10699	broad.mit.edu	37	4	47676443	47676443	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr4:47676443G>C	ENST00000273857.4	-	10	1323	c.1324C>G	c.(1324-1326)Ctc>Gtc	p.L442V	CORIN_ENST00000508498.1_Missense_Mutation_p.L303V|CORIN_ENST00000505909.1_Missense_Mutation_p.L405V|CORIN_ENST00000502252.1_Missense_Mutation_p.L375V|CORIN_ENST00000504584.1_Missense_Mutation_p.L405V	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	442					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.L442V(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GGGTCACAGAGAGAGCTACCA	0.448																																					p.L442V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1324G	4						.						232.0	206.0	215.0					4																	47676443		2203	4300	6503	47371200	SO:0001583	missense	10699	exon10			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1324C>G	4.37:g.47676443G>C	ENSP00000273857:p.Leu442Val		47371200	NM_006587	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568640	0.28003	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D;D	0.92752	-2.63;-2.61;-2.61;-2.49;-3.1	4.83	3.98	0.46160	.	0.529435	0.19248	N	0.118994	D	0.87853	0.6282	M	0.63843	1.955	0.25417	N	0.988308	B;P;B;B	0.38922	0.146;0.651;0.022;0.172	B;B;B;B	0.30943	0.034;0.122;0.006;0.023	T	0.78380	-0.2226	10	0.24483	T	0.36	.	11.6759	0.51430	0.0824:0.0:0.9176:0.0	.	405;405;375;442	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	V	442;303;375;405;405	ENSP00000273857:L442V;ENSP00000425597:L303V;ENSP00000424212:L375V;ENSP00000425401:L405V;ENSP00000423216:L405V	ENSP00000273857:L442V	L	-	1	0	CORIN	47371200	0.002000	0.14202	0.701000	0.30321	0.966000	0.64601	0.600000	0.24104	1.381000	0.46364	0.650000	0.86243	CTC		0.448	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2		
LPHN3	23284	broad.mit.edu	37	4	62758608	62758608	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr4:62758608G>A	ENST00000514591.1	+	9	1840	c.1511G>A	c.(1510-1512)cGa>cAa	p.R504Q	LPHN3_ENST00000504896.1_Missense_Mutation_p.R504Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.R504Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.R572Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R504Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R572Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.R504Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.R572Q|LPHN3_ENST00000512091.2_Missense_Mutation_p.R504Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R572Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.R572Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.R504Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.R504Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.R572Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R572Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	504					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.R504Q(1)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTGGAAGCCCGAGAAATCATG	0.488																																					p.R504Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1511A	4						.						62.0	60.0	61.0					4																	62758608		1947	4149	6096	62441203	SO:0001583	missense	23284	exon7			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1511G>A	4.37:g.62758608G>A	ENSP00000422533:p.Arg504Gln		62441203	NM_015236	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196024	0.78902	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.83	5.83	0.93111	.	0.608627	0.17519	N	0.171330	T	0.64011	0.2560	L	0.54965	1.715	0.45378	D	0.998368	P;P	0.52463	0.953;0.453	B;B	0.43052	0.406;0.05	T	0.69075	-0.5241	10	0.87932	D	0	.	19.1256	0.93382	0.0:0.0:1.0:0.0	.	504;504	E9PE04;Q9HAR2-2	.;.	Q	504;504;572;572;504;504;504;504;504;572;572;572;504;504;504;572;572;504	ENSP00000423388:R504Q;ENSP00000422533:R504Q;ENSP00000423787:R572Q;ENSP00000425033:R572Q;ENSP00000424120:R504Q;ENSP00000439831:R504Q;ENSP00000421476:R572Q;ENSP00000424030:R572Q;ENSP00000421372:R572Q;ENSP00000425201:R504Q;ENSP00000423434:R504Q;ENSP00000421627:R504Q;ENSP00000420931:R572Q;ENSP00000425884:R572Q;ENSP00000424258:R504Q	ENSP00000280009:R504Q	R	+	2	0	LPHN3	62441203	0.998000	0.40836	0.998000	0.56505	0.996000	0.88848	7.779000	0.85648	2.763000	0.94921	0.563000	0.77884	CGA		0.488	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
LPHN3	23284	broad.mit.edu	37	4	62775310	62775310	+	Silent	SNP	T	T	C			TCGA-AG-A01W-01	TCGA-AG-A01W-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr4:62775310T>C	ENST00000514591.1	+	11	2045	c.1716T>C	c.(1714-1716)gcT>gcC	p.A572A	LPHN3_ENST00000504896.1_Silent_p.A572A|LPHN3_ENST00000508946.1_Silent_p.A572A|LPHN3_ENST00000506746.1_Silent_p.A640A|LPHN3_ENST00000545650.1_Silent_p.A572A|LPHN3_ENST00000511324.1_Silent_p.A640A|LPHN3_ENST00000514157.1_Silent_p.A572A|LPHN3_ENST00000509896.1_Silent_p.A640A|LPHN3_ENST00000512091.2_Silent_p.A572A|LPHN3_ENST00000507625.1_Silent_p.A640A|LPHN3_ENST00000507164.1_Silent_p.A640A|LPHN3_ENST00000506700.1_Silent_p.A572A|LPHN3_ENST00000514996.1_Silent_p.A572A|LPHN3_ENST00000506720.1_Silent_p.A640A|LPHN3_ENST00000508693.1_Silent_p.A640A			Q9HAR2	LPHN3_HUMAN	latrophilin 3	572					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.A572A(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCAACATTGCTAGAGAGCTGG	0.423																																					p.A572A												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.T1716C	4						.						43.0	43.0	43.0					4																	62775310		1897	4121	6018	62457905	SO:0001819	synonymous_variant	23284	exon9			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1716T>C	4.37:g.62775310T>C			62457905	NM_015236	E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.295617	0.23564	.	.	ENSG00000150471	ENST00000502815	.	.	.	5.33	-3.39	0.04868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.9337	0.03332	0.3:0.3647:0.1021:0.2332	.	.	.	.	Q	43	.	.	X	+	1	0	LPHN3	62457905	0.960000	0.32886	0.988000	0.46212	0.966000	0.64601	0.147000	0.16202	-0.395000	0.07715	-0.344000	0.07964	TAG		0.423	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
GALNTL6	442117	broad.mit.edu	37	4	173873385	173873385	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr4:173873385G>T	ENST00000506823.1	+	10	2004	c.1347G>T	c.(1345-1347)gaG>gaT	p.E449D	GALNTL6_ENST00000508122.1_Missense_Mutation_p.E432D	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	449					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E449D(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CTCCAGTGGAGCCCCCGCCTG	0.607																																					p.E449D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1347T	4						.						44.0	41.0	42.0					4																	173873385		2203	4300	6503	174109960	SO:0001583	missense	442117	exon10				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1347G>T	4.37:g.173873385G>T	ENSP00000423313:p.Glu449Asp		174109960	NM_001034845	Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	g	16.06	3.014579	0.54468	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.76578	-1.03;-1.03	5.36	3.61	0.41365	Ricin B-related lectin (1);	0.000000	0.64402	D	0.000004	T	0.62950	0.2470	N	0.25647	0.755	0.58432	D	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.55970	-0.8056	10	0.17369	T	0.5	.	11.7217	0.51685	0.1439:0.0:0.8561:0.0	.	449	Q49A17	GLTL6_HUMAN	D	449;432	ENSP00000423313:E449D;ENSP00000423827:E432D	ENSP00000423313:E449D	E	+	3	2	GALNTL6	174109960	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.088000	0.57678	1.393000	0.46605	0.478000	0.44815	GAG		0.607	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845	
UTP14A	10813	broad.mit.edu	37	X	129060041	129060041	+	Silent	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chrX:129060041C>T	ENST00000394422.3	+	13	1924	c.1896C>T	c.(1894-1896)ggC>ggT	p.G632G	UTP14A_ENST00000371042.3_Silent_p.G464G|UTP14A_ENST00000371051.5_Silent_p.G578G|UTP14A_ENST00000425117.2_Silent_p.G580G|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	632					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.G632G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CTGGCTGGGGCGAGTGGGGTG	0.562											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G632G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1896T	X						.						39.0	42.0	41.0					X																	129060041		2202	4298	6500	128887722	SO:0001819	synonymous_variant	10813	exon13			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1896C>T	X.37:g.129060041C>T		1569	128887722	NM_006649	A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Silent	SNP	ENST00000394422.3	37	CCDS14615.1																																																																																				0.562	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649	
HMGB3	3149	broad.mit.edu	37	X	150155626	150155626	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chrX:150155626G>A	ENST00000325307.7	+	4	412	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	HMGB3_ENST00000448905.2_Missense_Mutation_p.E106K	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	106					DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E106K(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					GTTCTGTTCAGAATTCCGCCC	0.393																																					p.E106K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G316A	X						.						68.0	65.0	66.0					X																	150155626		2203	4300	6503	149906284	SO:0001583	missense	3149	exon4			AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.316G>A	X.37:g.150155626G>A	ENSP00000359393:p.Glu106Lys		149906284	NM_005342	O95556|Q6NS40	Missense_Mutation	SNP	ENST00000325307.7	37	CCDS35428.1	.	.	.	.	.	.	.	.	.	.	g	20.4	3.975789	0.74360	.	.	ENSG00000029993	ENST00000419110;ENST00000325307;ENST00000455596;ENST00000448905;ENST00000430118	D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91	4.95	4.95	0.65309	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98175	0.9397	M	0.88842	2.985	0.58432	D	0.999996	B	0.31459	0.324	B	0.37198	0.243	D	0.99774	1.1025	10	0.66056	D	0.02	.	16.2551	0.82510	0.0:0.0:1.0:0.0	.	106	O15347	HMGB3_HUMAN	K	106	ENSP00000410354:E106K;ENSP00000359393:E106K;ENSP00000405601:E106K;ENSP00000442758:E106K;ENSP00000417027:E106K	ENSP00000359393:E106K	E	+	1	0	HMGB3	149906284	1.000000	0.71417	0.903000	0.35520	0.948000	0.59901	9.660000	0.98599	2.033000	0.60031	0.529000	0.55759	GAA		0.393	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342	
BMX	660	broad.mit.edu	37	X	15527456	15527456	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chrX:15527456G>A	ENST00000357607.2	+	3	331	c.143G>A	c.(142-144)aGg>aAg	p.R48K	BMX_ENST00000348343.6_Missense_Mutation_p.R48K|BMX_ENST00000463891.1_3'UTR|BMX_ENST00000342014.6_Missense_Mutation_p.R48K			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	48	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.R48K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					ATTCAGAAAAGGGGCAGCAGA	0.413																																					p.R48K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G143A	X						.						69.0	63.0	65.0					X																	15527456		2203	4300	6503	15437377	SO:0001583	missense	660	exon3			AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.143G>A	X.37:g.15527456G>A	ENSP00000350224:p.Arg48Lys		15437377	NM_203281	A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	g	7.484	0.649333	0.14516	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.93076	-3.16;-3.16;-3.16	5.69	3.93	0.45458	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.080840	0.53938	N	0.000057	D	0.85344	0.5675	L	0.27053	0.805	0.23991	N	0.996249	B	0.18166	0.026	B	0.18561	0.022	T	0.67753	-0.5589	10	0.10111	T	0.7	.	7.9103	0.29787	0.1925:0.0:0.8075:0.0	.	48	P51813	BMX_HUMAN	K	48	ENSP00000350224:R48K;ENSP00000308774:R48K;ENSP00000340082:R48K	ENSP00000340082:R48K	R	+	2	0	BMX	15437377	1.000000	0.71417	0.995000	0.50966	0.901000	0.52897	1.515000	0.35845	0.572000	0.29383	0.597000	0.82753	AGG		0.413	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721	
ZNF41	7592	broad.mit.edu	37	X	47308278	47308278	+	Silent	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chrX:47308278C>T	ENST00000377065.4	-	5	1530	c.891G>A	c.(889-891)aaG>aaA	p.K297K	ZNF41_ENST00000313116.7_Silent_p.K297K|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Silent_p.K307K	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K297K(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ATTCACGGGACTTTTCTCCAG	0.428																																					p.K297K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G891A	X						.						102.0	93.0	96.0					X																	47308278		2203	4300	6503	47193222	SO:0001819	synonymous_variant	7592	exon5			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.891G>A	X.37:g.47308278C>T			47193222	NM_153380	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Silent	SNP	ENST00000377065.4	37	CCDS14279.1																																																																																				0.428	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380	
MAGED2	10916	broad.mit.edu	37	X	54841852	54841852	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chrX:54841852G>A	ENST00000375068.1	+	12	1791	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	MAGED2_ENST00000375060.1_Missense_Mutation_p.E435K|MAGED2_ENST00000375058.1_Missense_Mutation_p.E520K|MAGED2_ENST00000375062.4_Missense_Mutation_p.E435K|MAGED2_ENST00000218439.4_Missense_Mutation_p.E520K|MAGED2_ENST00000375053.2_Missense_Mutation_p.E520K|MAGED2_ENST00000396224.1_Missense_Mutation_p.E520K|MAGED2_ENST00000347546.4_Missense_Mutation_p.E502K|SNORA11_ENST00000408789.1_RNA			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	520						membrane (GO:0016020)		p.E520K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						CAACTGGGACGAAGCTGATAT	0.617																																					p.E520K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1558A	X						.						24.0	24.0	24.0					X																	54841852		2203	4297	6500	54858577	SO:0001583	missense	10916	exon12			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1558G>A	X.37:g.54841852G>A	ENSP00000364209:p.Glu520Lys		54858577	NM_201222	A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	37	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977337	0.74360	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.45668	3.8;3.8;3.86;3.82;0.89;3.8;3.8;0.89;3.8	4.73	3.85	0.44370	.	0.000000	0.47093	D	0.000242	T	0.36441	0.0967	N	0.22421	0.69	0.29893	N	0.825084	D;P	0.62365	0.991;0.951	P;B	0.52758	0.708;0.269	T	0.27905	-1.0060	10	0.72032	D	0.01	.	7.2845	0.26330	0.1226:0.0:0.8774:0.0	.	435;520	Q5H907;Q9UNF1	.;MAGD2_HUMAN	K	520;520;464;502;435;520;520;435;520	ENSP00000364209:E520K;ENSP00000364193:E520K;ENSP00000336962:E464K;ENSP00000340290:E502K;ENSP00000364202:E435K;ENSP00000218439:E520K;ENSP00000364198:E520K;ENSP00000364200:E435K;ENSP00000379526:E520K	ENSP00000218439:E520K	E	+	1	0	MAGED2	54858577	0.999000	0.42202	0.959000	0.39883	0.910000	0.53928	3.071000	0.50041	2.098000	0.63641	0.513000	0.50165	GAA		0.617	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599	
FAM104B	90736	broad.mit.edu	37	X	55187583	55187583	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chrX:55187583C>T	ENST00000358460.4	-	1	160	c.7G>A	c.(7-9)Ggc>Agc	p.G3S	FAM104B_ENST00000477847.2_5'Flank|FAM104B_ENST00000332132.4_Missense_Mutation_p.G3S|FAM104B_ENST00000489298.1_5'Flank|FAM104B_ENST00000425133.2_Missense_Mutation_p.G3S|FAM104B_ENST00000472571.2_Missense_Mutation_p.G3S|FAM104B_ENST00000478918.1_5'Flank			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	3								p.G3S(1)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						ACAGGGCAGCCTCCCATAGTC	0.637																																					p.G3S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7A	X						.						39.0	28.0	31.0					X																	55187583		2200	4296	6496	55204308	SO:0001583	missense	90736	exon1			BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"""chromosome X open reading frame 44"""	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.7G>A	X.37:g.55187583C>T	ENSP00000364101:p.Gly3Ser		55204308	NM_001166704	A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Missense_Mutation	SNP	ENST00000358460.4	37	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	c	14.96	2.691457	0.48097	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000472571	T;T;T	0.60548	0.27;0.18;0.57	1.79	0.911	0.19343	.	0.655352	0.11179	N	0.591174	T	0.53948	0.1828	N	0.14661	0.345	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79108	0.992;0.992;0.992	T	0.40572	-0.9556	10	0.87932	D	0	.	3.9153	0.09220	0.0:0.7648:0.0:0.2352	.	3;3;3	Q5XKR9-3;Q5XKR9;Q5XKR9-2	.;F104B_HUMAN;.	S	3	ENSP00000364101:G3S;ENSP00000333394:G3S;ENSP00000397188:G3S	ENSP00000333394:G3S	G	-	1	0	FAM104B	55204308	0.000000	0.05858	0.005000	0.12908	0.692000	0.40212	-0.150000	0.10189	0.251000	0.21505	0.292000	0.19580	GGC		0.637	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	NM_138362	
MAGEA4	4103	broad.mit.edu	37	X	151092778	151092778	+	Silent	SNP	C	C	T	rs376198310		TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chrX:151092778C>T	ENST00000360243.2	+	3	909	c.642C>T	c.(640-642)ggC>ggT	p.G214G	MAGEA4_ENST00000370340.3_Silent_p.G214G|MAGEA4_ENST00000370335.1_Silent_p.G214G|MAGEA4_ENST00000393921.1_Silent_p.G214G|MAGEA4_ENST00000370337.4_Silent_p.G214G|MAGEA4_ENST00000276344.2_Silent_p.G214G|MAGEA4_ENST00000393920.1_Silent_p.G214G	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	214	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.G214G(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CAATGGAGGGCGACAGCGCCT	0.557																																					p.G214G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C642T	X						.	C	,,,	0,3835		0,0,0,1632,571	101.0	104.0	103.0		642,642,642,642	-3.2	0.0	X		103	1,6727		0,0,1,2428,1871	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MAGEA4	NM_001011548.1,NM_001011549.1,NM_001011550.1,NM_002362.4	,,,	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	,,,	214/318,214/318,214/318,214/318	151092778	1,10562	2203	4300	6503	150843434	SO:0001819	synonymous_variant	4103	exon3				CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.642C>T	X.37:g.151092778C>T			150843434	NM_002362	Q14798	Silent	SNP	ENST00000360243.2	37	CCDS14702.1																																																																																				0.557	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362	
DPP10	57628	broad.mit.edu	37	2	116548883	116548883	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr2:116548883C>T	ENST00000410059.1	+	19	2131	c.1651C>T	c.(1651-1653)Ctt>Ttt	p.L551F	DPP10_ENST00000310323.8_Missense_Mutation_p.L544F|DPP10_ENST00000393147.2_Missense_Mutation_p.L555F|DPP10_ENST00000409163.1_Missense_Mutation_p.L501F	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	551						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.L544F(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ACAGTTGTCCCTTCCCAAAGA	0.294																																					p.L501F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1501T	2						.						91.0	96.0	94.0					2																	116548883		2203	4299	6502	116265353	SO:0001583	missense	57628	exon20			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1651C>T	2.37:g.116548883C>T	ENSP00000386565:p.Leu551Phe		116265353	NM_001178036	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	4.609	0.113217	0.08831	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.54	1.7	0.24286	.	0.380667	0.29073	N	0.013225	T	0.19604	0.0471	N	0.02539	-0.55	0.25491	N	0.987645	B;B;B;B	0.09022	0.002;0.0;0.0;0.001	B;B;B;B	0.12156	0.007;0.0;0.002;0.003	T	0.16571	-1.0398	10	0.35671	T	0.21	-3.6091	7.4393	0.27174	0.0:0.3616:0.0:0.6384	.	544;555;547;551	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	F	551;501;555;544;501	ENSP00000386565:L551F;ENSP00000387038:L501F;ENSP00000376855:L555F;ENSP00000309066:L544F	ENSP00000309066:L544F	L	+	1	0	DPP10	116265353	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.376000	0.34306	0.176000	0.19873	-0.300000	0.09419	CTT		0.294	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
NEB	4703	broad.mit.edu	37	2	152506794	152506794	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A01W-01	TCGA-AG-A01W-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr2:152506794T>G	ENST00000172853.10	-	54	7474	c.7327A>C	c.(7327-7329)Agt>Cgt	p.S2443R	NEB_ENST00000427231.2_Missense_Mutation_p.S2443R|NEB_ENST00000397345.3_Missense_Mutation_p.S2443R|NEB_ENST00000409198.1_Missense_Mutation_p.S2443R|NEB_ENST00000603639.1_Missense_Mutation_p.S2443R|NEB_ENST00000604864.1_Missense_Mutation_p.S2443R			P20929	NEBU_HUMAN	nebulin	2443					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.S2443R(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTTCTCACTGATGATTTCC	0.443																																					p.S2443R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7327C	2						.						154.0	145.0	148.0					2																	152506794		1903	4123	6026	152215040	SO:0001583	missense	4703	exon54			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7327A>C	2.37:g.152506794T>G	ENSP00000172853:p.Ser2443Arg		152215040	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	T	22.1	4.245785	0.80024	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.10382	2.88;2.91;2.9;2.97	5.37	5.37	0.77165	.	0.047237	0.85682	D	0.000000	T	0.37705	0.1013	M	0.87971	2.92	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	T	0.40905	-0.9538	10	0.72032	D	0.01	.	15.3752	0.74598	0.0:0.0:0.0:1.0	.	2443	P20929	NEBU_HUMAN	R	2443	ENSP00000386259:S2443R;ENSP00000380505:S2443R;ENSP00000416578:S2443R;ENSP00000172853:S2443R	ENSP00000172853:S2443R	S	-	1	0	NEB	152215040	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.124000	0.64709	2.044000	0.60594	0.528000	0.53228	AGT		0.443	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
FIGN	55137	broad.mit.edu	37	2	164467927	164467927	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr2:164467927G>T	ENST00000333129.3	-	3	729	c.415C>A	c.(415-417)Ctc>Atc	p.L139I	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	139					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.L139I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GCTGGAGGGAGGGCTGAACTG	0.507																																					p.L139I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C415A	2						.						100.0	96.0	97.0					2																	164467927		1963	4159	6122	164176173	SO:0001583	missense	55137	exon3			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.415C>A	2.37:g.164467927G>T	ENSP00000333836:p.Leu139Ile		164176173	NM_018086	B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625280	0.46840	.	.	ENSG00000182263	ENST00000333129	T	0.25250	1.81	6.07	6.07	0.98685	.	0.067362	0.64402	D	0.000009	T	0.23133	0.0559	L	0.34521	1.04	0.54753	D	0.999986	B	0.13145	0.007	B	0.10450	0.005	T	0.01613	-1.1312	10	0.56958	D	0.05	-8.5629	15.3849	0.74691	0.0:0.0:0.8607:0.1393	.	139	Q5HY92	FIGN_HUMAN	I	139	ENSP00000333836:L139I	ENSP00000333836:L139I	L	-	1	0	FIGN	164176173	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.496000	0.66918	2.885000	0.99019	0.655000	0.94253	CTC		0.507	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086	
SCN9A	6335	broad.mit.edu	37	2	167084233	167084233	+	Splice_Site	SNP	C	C	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr2:167084233C>A	ENST00000409435.1	-	22	4206	c.4207G>T	c.(4207-4209)Gca>Tca	p.A1403S	SCN9A_ENST00000375387.4_Splice_Site_p.A1404S|SCN9A_ENST00000409672.1_Splice_Site_p.A1392S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Splice_Site_p.A1404S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1403					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.A1392S(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTAAAAGTTGCCTTTAAGAAT	0.274																																					p.A1392S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4174T	2						.						49.0	45.0	47.0					2																	167084233		1788	4032	5820	166792479	SO:0001630	splice_region_variant	6335	exon23			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4207-1G>T	2.37:g.167084233C>A			166792479	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.322149	0.60634	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	D	0.98204	0.9406	L	0.42245	1.32	0.58432	D	0.999998	D	0.62365	0.991	D	0.71184	0.972	D	0.99349	1.0914	10	0.87932	D	0	.	15.6585	0.77162	0.1376:0.8624:0.0:0.0	.	1392	E7EUN6	.	S	1392;1404;1404;1403	ENSP00000386306:A1392S;ENSP00000364536:A1404S;ENSP00000304748:A1404S;ENSP00000386330:A1403S	ENSP00000304748:A1404S	A	-	1	0	SCN9A	166792479	1.000000	0.71417	1.000000	0.80357	0.136000	0.21042	4.777000	0.62361	2.571000	0.86741	0.467000	0.42956	GCA		0.274	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	Missense_Mutation
TTN	7273	broad.mit.edu	37	2	179463494	179463494	+	Silent	SNP	C	C	T	rs370998052		TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr2:179463494C>T	ENST00000591111.1	-	241	52244	c.52020G>A	c.(52018-52020)gcG>gcA	p.A17340A	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.A10108A|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.A9916A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.A10041A|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Silent_p.A18981A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.A16413A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17340	Fibronectin type-III 25. {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)	p.A16411A(1)|p.A9916A(1)|p.A10108A(1)|p.A10041A(1)		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)			CTCTAGCAGTCGCTGGGTCTG	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		19712	0.001		0.0	False		,,,				2504	0.0				p.A9916A												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.G29748A	2						.	C	,,,	0,3730		0,0,1865	144.0	141.0	142.0		29748,49239,30123,30324	3.9	1.0	2		142	1,8169		0,1,4084	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,5949	TT,TC,CC		0.0122,0.0,0.0084	,,,	9916/26927,16413/33424,10041/27052,10108/27119	179463494	1,11899	1865	4085	5950	179171739	SO:0001819	synonymous_variant	7273	exon119			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.52020G>A	2.37:g.179463494C>T			179171739	NM_003319	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	Silent	SNP	ENST00000591111.1	37																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
WDR75	84128	broad.mit.edu	37	2	190313193	190313193	+	Silent	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr2:190313193C>T	ENST00000314761.4	+	2	235	c.175C>T	c.(175-177)Ctg>Ttg	p.L59L		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	59						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L59L(1)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			ACACAGAAATCTGGTGACTGG	0.383																																					p.L59L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C175T	2						.						139.0	125.0	130.0					2																	190313193		2203	4300	6503	190021438	SO:0001819	synonymous_variant	84128	exon2			AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.175C>T	2.37:g.190313193C>T			190021438	NM_032168	Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Silent	SNP	ENST00000314761.4	37	CCDS2298.1																																																																																				0.383	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168	
ANKRD44	91526	broad.mit.edu	37	2	197990164	197990164	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr2:197990164G>T	ENST00000328737.2	-	6	492	c.416C>A	c.(415-417)gCa>gAa	p.A139E	ANKRD44_ENST00000409919.1_Missense_Mutation_p.A164E|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A164E|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A92E|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A139E|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A156E|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A139E			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	164								p.A139E(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTGATATTTGCCCCTTTGGC	0.448																																					p.A164E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C491A	2						.						128.0	118.0	121.0					2																	197990164		2203	4300	6503	197698409	SO:0001583	missense	91526	exon6			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.416C>A	2.37:g.197990164G>T	ENSP00000331516:p.Ala139Glu		197698409	NM_153697	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37		.	.	.	.	.	.	.	.	.	.	G	24.0	4.486414	0.84854	.	.	ENSG00000065413	ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527;ENST00000409919	T;T;T;T;T;T;T	0.70631	1.68;-0.5;-0.5;1.75;1.75;1.33;-0.5	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.88209	0.6375	M	0.92970	3.365	0.80722	D	1	P;D	0.89917	0.687;1.0	P;D	0.91635	0.732;0.999	D	0.90909	0.4774	10	0.87932	D	0	.	18.6181	0.91310	0.0:0.0:1.0:0.0	.	92;164	F5H682;Q8N8A2-3	.;.	E	156;139;139;139;164;92;164	ENSP00000282272:A156E;ENSP00000331516:A139E;ENSP00000402420:A139E;ENSP00000338794:A139E;ENSP00000387141:A164E;ENSP00000437825:A92E;ENSP00000387233:A164E	ENSP00000282272:A156E	A	-	2	0	ANKRD44	197698409	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	9.601000	0.98297	2.612000	0.88384	0.655000	0.94253	GCA		0.448	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697	
STRADB	55437	broad.mit.edu	37	2	202337735	202337735	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr2:202337735C>T	ENST00000194530.3	+	5	616	c.251C>T	c.(250-252)aCa>aTa	p.T84I	STRADB_ENST00000392249.2_Missense_Mutation_p.T84I	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	84	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.T84I(1)		breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						CCCACAGGAACACTGGTAACT	0.378																																					p.T84I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C251T	2						.						120.0	118.0	119.0					2																	202337735		2203	4300	6503	202045980	SO:0001583	missense	55437	exon5			AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.251C>T	2.37:g.202337735C>T	ENSP00000194530:p.Thr84Ile		202045980	NM_018571	Q5BKY7|Q9P1L0	Missense_Mutation	SNP	ENST00000194530.3	37	CCDS2348.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476131	0.44044	.	.	ENSG00000082146	ENST00000458269;ENST00000194530;ENST00000539670;ENST00000392249	T;T;T	0.65732	-0.17;-0.17;-0.17	5.36	4.48	0.54585	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.162090	0.56097	D	0.000034	T	0.54647	0.1871	L	0.39566	1.225	0.37416	D	0.913455	P	0.34562	0.457	B	0.36989	0.238	T	0.63492	-0.6625	10	0.66056	D	0.02	.	11.5947	0.50966	0.0:0.807:0.1239:0.0691	.	84	Q9C0K7	STRAB_HUMAN	I	29;84;84;84	ENSP00000409552:T29I;ENSP00000194530:T84I;ENSP00000376080:T84I	ENSP00000194530:T84I	T	+	2	0	STRADB	202045980	0.371000	0.25056	1.000000	0.80357	0.849000	0.48306	0.872000	0.28037	1.385000	0.46445	0.563000	0.77884	ACA		0.378	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571	
ZDBF2	57683	broad.mit.edu	37	2	207162065	207162065	+	Silent	SNP	G	G	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr2:207162065G>T	ENST00000374423.3	+	4	542	c.156G>T	c.(154-156)ctG>ctT	p.L52L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	52							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.L52L(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGGATGTACTGCAGCACCACC	0.388																																					p.L52L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G156T	2						.						145.0	138.0	140.0					2																	207162065		1926	4132	6058	206870310	SO:0001819	synonymous_variant	57683	exon4			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.156G>T	2.37:g.207162065G>T			206870310	NM_020923	Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	CCDS46501.1																																																																																				0.388	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ERLEC1	27248	broad.mit.edu	37	2	54028753	54028753	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A01W-01	TCGA-AG-A01W-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr2:54028753T>G	ENST00000185150.4	+	7	876	c.745T>G	c.(745-747)Tat>Gat	p.Y249D	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.Y249D|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000405123.3_Missense_Mutation_p.Y249D	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	249					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)	p.Y249D(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TCATCCTAAATATAGGTAGGA	0.343																																					p.Y249D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T745G	2						.						55.0	51.0	52.0					2																	54028753		2203	4300	6503	53882257	SO:0001583	missense	27248	exon7			AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"""erlectin 1"""	611229	"""chromosome 2 open reading frame 30"""	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.745T>G	2.37:g.54028753T>G	ENSP00000185150:p.Tyr249Asp		53882257	NM_015701	B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	ENST00000185150.4	37	CCDS1848.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.330846	0.81690	.	.	ENSG00000068912	ENST00000405123;ENST00000185150;ENST00000378239	T;T	0.53640	0.68;0.61	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.71358	0.3330	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.987;0.99	T	0.75513	-0.3291	9	0.87932	D	0	-16.1865	16.4323	0.83853	0.0:0.0:0.0:1.0	.	249;249;249	Q96DZ1-2;B5MC72;Q96DZ1	.;.;ERLEC_HUMAN	D	249	ENSP00000385629:Y249D;ENSP00000185150:Y249D	ENSP00000185150:Y249D	Y	+	1	0	ERLEC1	53882257	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.281000	0.76405	0.528000	0.53228	TAT		0.343	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701	
KIAA1841	84542	broad.mit.edu	37	2	61324877	61324877	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr2:61324877G>A	ENST00000402291.1	+	12	1496	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	KIAA1841_ENST00000356719.2_Missense_Mutation_p.E419K|KIAA1841_ENST00000295031.5_Missense_Mutation_p.E419K|KIAA1841_ENST00000453873.1_Missense_Mutation_p.E419K	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	419								p.E419K(1)		breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			ATACCACTCAGAAACAGTGGT	0.353																																					p.E419K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1255A	2						.						139.0	132.0	134.0					2																	61324877		2203	4300	6503	61178381	SO:0001583	missense	84542	exon12			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1255G>A	2.37:g.61324877G>A	ENSP00000385579:p.Glu419Lys		61178381	NM_032506	Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.651111	0.67472	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.89	5.89	0.94794	.	0.289214	0.38164	N	0.001781	T	0.54334	0.1852	L	0.56769	1.78	0.47183	D	0.999347	B;P	0.35468	0.447;0.503	B;B	0.31101	0.108;0.124	T	0.58482	-0.7629	9	0.62326	D	0.03	-8.0847	16.0538	0.80779	0.0:0.1703:0.8297:0.0	.	419;419	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	K	419	.	ENSP00000295031:E419K	E	+	1	0	KIAA1841	61178381	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	6.829000	0.75314	2.799000	0.96334	0.579000	0.79373	GAA		0.353	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506	
C2orf57	165100	broad.mit.edu	37	2	232458831	232458831	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr2:232458831C>A	ENST00000313965.2	+	1	1257	c.1169C>A	c.(1168-1170)gCt>gAt	p.A390D		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	390								p.A390D(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CAGGCCCAGGCTGACCCCAAC	0.657																																					p.A390D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1169A	2						.						30.0	29.0	29.0					2																	232458831		2201	4300	6501	232167075	SO:0001583	missense	165100	exon1			BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.1169C>A	2.37:g.232458831C>A	ENSP00000315557:p.Ala390Asp		232167075	NM_152614	Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	37	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027516	0.54683	.	.	ENSG00000177673	ENST00000313965	T	0.21361	2.01	4.92	4.92	0.64577	.	.	.	.	.	T	0.26268	0.0641	N	0.12182	0.205	0.09310	N	1	D	0.71674	0.998	D	0.69654	0.965	T	0.20240	-1.0281	9	0.26408	T	0.33	.	13.5084	0.61497	0.0:1.0:0.0:0.0	.	390	Q53QW1	CB057_HUMAN	D	390	ENSP00000315557:A390D	ENSP00000315557:A390D	A	+	2	0	C2orf57	232167075	0.000000	0.05858	0.005000	0.12908	0.119000	0.20118	0.666000	0.25097	2.569000	0.86673	0.557000	0.71058	GCT		0.657	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614	
TAF1L	138474	broad.mit.edu	37	9	32635569	32635569	+	Silent	SNP	G	G	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr9:32635569G>A	ENST00000242310.4	-	1	98	c.9C>T	c.(7-9)ccC>ccT	p.P3P	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	3					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.P3P(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AATCGCAGCCGGGTCGCATAA	0.552																																					p.P3P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C9T	9						.						47.0	45.0	46.0					9																	32635569		2203	4300	6503	32625569	SO:0001819	synonymous_variant	138474	exon1			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.9C>T	9.37:g.32635569G>A			32625569	NM_153809	Q0VG57	Silent	SNP	ENST00000242310.4	37	CCDS35003.1																																																																																				0.552	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
TLE4	7091	broad.mit.edu	37	9	82188608	82188608	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr9:82188608C>A	ENST00000376552.2	+	2	1068	c.50C>A	c.(49-51)cCg>cAg	p.P17Q	TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.P17Q|TLE4_ENST00000265284.6_Missense_Mutation_p.P17Q|TLE4_ENST00000376544.3_Missense_Mutation_p.P17Q|TLE4_ENST00000376520.4_Missense_Mutation_p.P17Q	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	17	Gln-rich (Q domain).				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)	p.P17Q(2)|p.P17R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTTCAGGCACCGCATCAGCCT	0.458																																					p.P17Q												.	.	3	Substitution - Missense(3)	large_intestine(2)|prostate(1)	c.C50A	9						.						73.0	68.0	70.0					9																	82188608		1923	4132	6055	81378428	SO:0001583	missense	7091	exon2			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.50C>A	9.37:g.82188608C>A	ENSP00000365735:p.Pro17Gln		81378428	NM_007005	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593257	0.66219	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000399288;ENST00000435650;ENST00000414465;ENST00000376537;ENST00000265284;ENST00000425506;ENST00000428713	T;T;T;T;T;T;T;T	0.63096	0.5;0.42;0.47;0.66;0.49;0.74;0.47;-0.02	4.33	3.43	0.39272	Groucho/TLE, N-terminal Q-rich domain (1);	0.062013	0.64402	D	0.000004	T	0.82153	0.4975	M	0.92459	3.31	0.80722	D	1	D;D;D	0.89917	0.962;1.0;0.983	P;D;D	0.87578	0.846;0.998;0.947	D	0.85088	0.0950	10	0.87932	D	0	-6.634	11.9792	0.53111	0.0:0.9133:0.0:0.0867	.	17;17;17	F8W6T6;Q04727-2;Q04727	.;.;TLE4_HUMAN	Q	17;17;17;17;17;17;17;17;15;2	ENSP00000365735:P17Q;ENSP00000365727:P17Q;ENSP00000365703:P17Q;ENSP00000415423:P17Q;ENSP00000365720:P17Q;ENSP00000265284:P17Q;ENSP00000412567:P15Q;ENSP00000409313:P2Q	ENSP00000265284:P17Q	P	+	2	0	TLE4	81378428	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.398000	0.79919	0.815000	0.34398	0.462000	0.41574	CCG		0.458	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237	
ZCCHC6	79670	broad.mit.edu	37	9	88938185	88938186	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AG-A01W-01	TCGA-AG-A01W-01			AG	-	AG	AG	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr9:88938185_88938186delAG	ENST00000375963.3	-	13	2651_2652	c.2479_2480delCT	c.(2479-2481)ctafs	p.L827fs	ZCCHC6_ENST00000375960.2_Frame_Shift_Del_p.L704fs|ZCCHC6_ENST00000277141.6_Frame_Shift_Del_p.L116fs|ZCCHC6_ENST00000375961.2_Frame_Shift_Del_p.L827fs|ZCCHC6_ENST00000469004.1_5'Flank	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	827	Glu-rich.				RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.L827fs*18(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AAAGTGGTTTAGAGAGTCTTCT	0.46																																					p.827_827del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2479_2480del	9						.																																			88128006	SO:0001589	frameshift_variant	79670	exon13			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2479_2480delCT	9.37:g.88938189_88938190delAG	ENSP00000365130:p.Leu827fs		88128005	NM_024617	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Frame_Shift_Del	DEL	ENST00000375963.3	37	CCDS35057.1																																																																																				0.460	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617	
ZNF484	83744	broad.mit.edu	37	9	95609939	95609939	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr9:95609939A>T	ENST00000375495.3	-	5	1278	c.1130T>A	c.(1129-1131)aTt>aAt	p.I377N	ZNF484_ENST00000332591.6_Missense_Mutation_p.I341N|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.I379N|ZNF484_ENST00000395505.2_Missense_Mutation_p.I341N	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I377N(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TCCAGTATGAATTTTTTTATG	0.343																																					p.I341N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1022A	9						.						36.0	40.0	38.0					9																	95609939		2201	4284	6485	94649760	SO:0001583	missense	83744	exon4			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1130T>A	9.37:g.95609939A>T	ENSP00000364645:p.Ile377Asn		94649760	NM_001007101	B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	0.049	-1.255563	0.01457	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	2.49	-4.98	0.03019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16685	0.0401	M	0.73319	2.225	0.09310	N	1	P;P	0.38677	0.642;0.642	B;B	0.40009	0.316;0.316	T	0.15492	-1.0435	9	0.72032	D	0.01	.	1.7796	0.03028	0.1241:0.3064:0.167:0.4025	.	379;377	B4DRI2;Q5JVG2	.;ZN484_HUMAN	N	341;379;377;341	ENSP00000378881:I341N;ENSP00000378882:I379N;ENSP00000364645:I377N;ENSP00000364646:I341N	ENSP00000364646:I341N	I	-	2	0	ZNF484	94649760	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.304000	0.08199	-4.745000	0.00034	-0.353000	0.07706	ATT		0.343	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861	
RALGDS	5900	broad.mit.edu	37	9	135983678	135983678	+	Silent	SNP	T	T	G			TCGA-AG-A01W-01	TCGA-AG-A01W-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr9:135983678T>G	ENST00000372050.3	-	6	915	c.894A>C	c.(892-894)acA>acC	p.T298T	RALGDS_ENST00000372047.3_Silent_p.T286T|RALGDS_ENST00000372062.3_Silent_p.T269T|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000393157.3_Silent_p.T297T|RALGDS_ENST00000393160.3_Silent_p.T243T|RALGDS_ENST00000542690.1_Silent_p.T369T	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	298					neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)	p.T298T(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ctggagctggtgttggagctg	0.627			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																p.T298T	Melanoma(189;762 2088 15384 21931 52515)		Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A894C	9						.						20.0	20.0	20.0					9																	135983678		2139	4200	6339	134973499	SO:0001819	synonymous_variant	5900	exon6			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.894A>C	9.37:g.135983678T>G			134973499	NM_006266	B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Silent	SNP	ENST00000372050.3	37	CCDS6959.1																																																																																				0.627	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266	
CCDC70	83446	broad.mit.edu	37	13	52439668	52439668	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr13:52439668C>T	ENST00000242819.4	+	2	450	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	52						extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.R52C(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AAAGGCTTTTCGCGAAGAGAT	0.517																																					p.R52C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C154T	13						.						67.0	69.0	68.0					13																	52439668		2203	4300	6503	51337669	SO:0001583	missense	83446	exon2				CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.154C>T	13.37:g.52439668C>T	ENSP00000242819:p.Arg52Cys		51337669	NM_031290	Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	37	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641014	0.29157	.	.	ENSG00000123171	ENST00000242819	T	0.22336	1.96	5.55	1.83	0.25207	.	0.233858	0.30134	N	0.010334	T	0.31702	0.0805	M	0.70595	2.14	0.09310	N	1	D	0.71674	0.998	P	0.56700	0.804	T	0.12553	-1.0543	10	0.87932	D	0	-3.7611	4.4143	0.11448	0.1466:0.5351:0.0:0.3183	.	52	Q6NSX1	CCD70_HUMAN	C	52	ENSP00000242819:R52C	ENSP00000242819:R52C	R	+	1	0	CCDC70	51337669	0.015000	0.18098	0.000000	0.03702	0.008000	0.06430	0.565000	0.23578	0.297000	0.22615	-0.251000	0.11542	CGC		0.517	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290	
PCDH9	5101	broad.mit.edu	37	13	67801643	67801643	+	Silent	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr13:67801643C>T	ENST00000377865.2	-	1	1064	c.930G>A	c.(928-930)ggG>ggA	p.G310G	PCDH9_ENST00000456367.1_Silent_p.G310G|PCDH9_ENST00000328454.5_Silent_p.G310G|PCDH9_ENST00000377861.3_Silent_p.G310G|PCDH9_ENST00000544246.1_Silent_p.G310G			Q9HC56	PCDH9_HUMAN	protocadherin 9	310	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G310G(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTGTAATCAGCCCAGTAGTAT	0.488																																					p.G310G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G930A	13						.						83.0	86.0	85.0					13																	67801643		2203	4300	6503	66699644	SO:0001819	synonymous_variant	5101	exon2			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.930G>A	13.37:g.67801643C>T			66699644	NM_020403	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	CCDS9444.1																																																																																				0.488	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
PCID2	55795	broad.mit.edu	37	13	113838679	113838679	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A01W-01	TCGA-AG-A01W-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr13:113838679A>C	ENST00000337344.4	-	9	742	c.666T>G	c.(664-666)ttT>ttG	p.F222L	PCID2_ENST00000375477.1_Missense_Mutation_p.F222L|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000375457.2_Missense_Mutation_p.F220L|PCID2_ENST00000375479.2_Missense_Mutation_p.F222L|PCID2_ENST00000246505.5_Missense_Mutation_p.F276L|PCID2_ENST00000375459.1_Missense_Mutation_p.F220L	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	222					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)			p.F276L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			AATCGCTGTCAAACATAGCCT	0.358																																					p.F222L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T666G	13						.						242.0	211.0	222.0					13																	113838679		2203	4300	6503	112886680	SO:0001583	missense	55795	exon9			AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.666T>G	13.37:g.113838679A>C	ENSP00000337405:p.Phe222Leu		112886680	NM_018386	A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	ENST00000337344.4	37	CCDS9532.2	.	.	.	.	.	.	.	.	.	.	A	17.88	3.496757	0.64186	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317	.	.	.	5.31	-4.49	0.03504	PCI/PINT associated module (1);	0.049040	0.85682	D	0.000000	T	0.50990	0.1648	L	0.37750	1.13	0.80722	D	1	P;D	0.55605	0.778;0.972	P;P	0.53518	0.498;0.728	T	0.59289	-0.7482	9	0.10636	T	0.68	-29.1013	16.0074	0.80372	0.9015:0.0:0.0985:0.0	.	276;222	Q5JVF3-4;Q5JVF3	.;PCID2_HUMAN	L	222;222;222;276;220;220;199;222;199	.	ENSP00000246505:F276L	F	-	3	2	PCID2	112886680	1.000000	0.71417	0.547000	0.28179	0.548000	0.35241	1.031000	0.30165	-1.173000	0.02758	-0.290000	0.09829	TTT		0.358	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386	
DMBT1	1755	broad.mit.edu	37	10	124402857	124402857	+	Silent	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr10:124402857C>T	ENST00000338354.3	+	53	7291	c.7185C>T	c.(7183-7185)gtC>gtT	p.V2395V	DMBT1_ENST00000359586.6_Silent_p.V1115V|DMBT1_ENST00000368909.3_Silent_p.V2395V|DMBT1_ENST00000330163.4_Silent_p.V1767V|DMBT1_ENST00000368956.2_Silent_p.V1767V|DMBT1_ENST00000368955.3_Silent_p.V2385V|DMBT1_ENST00000344338.3_Silent_p.V2385V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2395					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.V2395V(3)|p.V2524V(2)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGGTGGACGTCGTCCTGGGTC	0.647																																					p.V2395V	Ovarian(182;93 2026 18125 22222 38972)											.	.	5	Substitution - coding silent(5)	endometrium(3)|large_intestine(2)	c.C7185T	10						.						65.0	67.0	66.0					10																	124402857		2029	4170	6199	124392847	SO:0001819	synonymous_variant	1755	exon53				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.7185C>T	10.37:g.124402857C>T			124392847	NM_007329	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37																																																																																					0.647	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	
PLXDC2	84898	broad.mit.edu	37	10	20568697	20568697	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A01W-01	TCGA-AG-A01W-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr10:20568697A>C	ENST00000377252.4	+	14	2380	c.1539A>C	c.(1537-1539)gaA>gaC	p.E513D	PLXDC2_ENST00000377242.3_Missense_Mutation_p.E464D|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	513					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.E513D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CCTATGCTGAAGTTGAACCAG	0.423																																					p.E513D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1539C	10						.						98.0	97.0	97.0					10																	20568697		2203	4300	6503	20608703	SO:0001583	missense	84898	exon14			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1539A>C	10.37:g.20568697A>C	ENSP00000366460:p.Glu513Asp		20608703	NM_032812	Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.630383	0.67015	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.37235	1.21;1.4	5.62	0.68	0.17980	.	0.000000	0.85682	D	0.000000	T	0.55862	0.1947	M	0.77103	2.36	0.52099	D	0.999941	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.55811	-0.8082	10	0.54805	T	0.06	.	10.5624	0.45152	0.6789:0.0:0.3211:0.0	.	464;513	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	D	513;464;376;499	ENSP00000366460:E513D;ENSP00000366450:E464D	ENSP00000366446:E376D	E	+	3	2	PLXDC2	20608703	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.666000	0.46799	0.147000	0.19030	0.528000	0.53228	GAA		0.423	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812	
C10orf113	387638	broad.mit.edu	37	10	21435316	21435316	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr10:21435316G>A	ENST00000534331.1	-	1	172	c.122C>T	c.(121-123)tCa>tTa	p.S41L	NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000377118.4_Missense_Mutation_p.S31L|C10orf113_ENST00000529198.1_Missense_Mutation_p.S41L	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	41								p.S31L(2)		endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						AGAAAAAAATGACTGGTTGAT	0.428																																					p.S41L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C122T	10						.						157.0	142.0	147.0					10																	21435316		2203	4300	6503	21475322	SO:0001583	missense	387638	exon1				CCDS31162.1, CCDS31162.2, CCDS53496.1	10p12.31	2012-06-12			ENSG00000204683	ENSG00000204683			31447	protein-coding gene	gene with protein product							Standard	NM_001010896		Approved	bA165O3.1	uc001iqm.3	Q5VZT2	OTTHUMG00000017786	ENST00000534331.1:c.122C>T	10.37:g.21435316G>A	ENSP00000433646:p.Ser41Leu		21475322	NM_001010896	B9EIM9|E9PRX7	Missense_Mutation	SNP	ENST00000534331.1	37	CCDS31162.2	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017387	0.35606	.	.	ENSG00000204683	ENST00000534331;ENST00000529198;ENST00000377118	T;T	0.38240	1.15;1.15	5.71	-7.51	0.01346	.	.	.	.	.	T	0.13030	0.0316	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24048	-1.0171	9	0.87932	D	0	.	0.7479	0.00985	0.261:0.3055:0.1201:0.3134	.	41	Q5VZT2	CJ113_HUMAN	L	41;41;31	ENSP00000433646:S41L;ENSP00000366322:S31L	ENSP00000366322:S31L	S	-	2	0	C10orf113	21475322	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-3.342000	0.00505	-1.246000	0.02510	-0.140000	0.14226	TCA		0.428	C10orf113-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047108.3	NM_001010896	
ANKRD30A	91074	broad.mit.edu	37	10	37505292	37505292	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A01W-01	TCGA-AG-A01W-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr10:37505292T>C	ENST00000602533.1	+	32	2984	c.2885T>C	c.(2884-2886)gTt>gCt	p.V962A	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.V1081A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.V962A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1018					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V962A(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACCAAAAAGTTAAATGGGAA	0.308																																					p.V962A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2885C	10						.						77.0	78.0	78.0					10																	37505292		1831	4078	5909	37545298	SO:0001583	missense	91074	exon32			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2885T>C	10.37:g.37505292T>C	ENSP00000473551:p.Val962Ala		37545298	NM_052997	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	t	1.865	-0.461580	0.04508	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05649	3.41;3.41	2.63	2.63	0.31362	.	.	.	.	.	T	0.05502	0.0145	N	0.11064	0.09	0.09310	N	1	D	0.61697	0.99	P	0.51516	0.672	T	0.43032	-0.9416	9	0.21540	T	0.41	.	8.4494	0.32862	0.0:0.0:0.0:1.0	.	1018	Q9BXX3	AN30A_HUMAN	A	962;1081	ENSP00000354432:V962A;ENSP00000363792:V1081A	ENSP00000354432:V962A	V	+	2	0	ANKRD30A	37545298	0.020000	0.18652	0.002000	0.10522	0.006000	0.05464	0.854000	0.27791	1.055000	0.40461	0.260000	0.18958	GTT		0.308	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	
RHOBTB1	9886	broad.mit.edu	37	10	62634763	62634763	+	Silent	SNP	C	C	T	rs556718498		TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr10:62634763C>T	ENST00000337910.5	-	9	2101	c.1764G>A	c.(1762-1764)acG>acA	p.T588T	RHOBTB1_ENST00000357917.4_Silent_p.T588T|RHOBTB1_ENST00000490827.1_5'UTR	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	588					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.T588T(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CCACGCCACTCGTGGCGGCTT	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		19492	0.001		0.0	False		,,,				2504	0.0				p.T588T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1764A	10						.						92.0	89.0	90.0					10																	62634763		2203	4300	6503	62304769	SO:0001819	synonymous_variant	9886	exon9			AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1764G>A	10.37:g.62634763C>T			62304769	NM_014836		Silent	SNP	ENST00000337910.5	37	CCDS7261.1																																																																																				0.507	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1		
CHST15	51363	broad.mit.edu	37	10	125780804	125780804	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr10:125780804C>T	ENST00000346248.5	-	6	1957	c.1315G>A	c.(1315-1317)Gtc>Atc	p.V439I	CHST15_ENST00000421115.1_Missense_Mutation_p.V439I|CHST15_ENST00000435907.1_Missense_Mutation_p.V439I	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	439					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.V439I(1)		endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTGTTGTAGACGCAGGCGCGC	0.532																																					p.V439I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1315A	10						.						70.0	63.0	65.0					10																	125780804		2203	4300	6503	125770794	SO:0001583	missense	51363	exon6			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1315G>A	10.37:g.125780804C>T	ENSP00000333947:p.Val439Ile		125770794	NM_015892	O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514056	0.44763	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	.	.	.	4.41	3.5	0.40072	Sulfotransferase domain (1);	0.225046	0.37012	N	0.002293	T	0.38161	0.1030	L	0.28192	0.835	0.33557	D	0.596824	B;B	0.18741	0.03;0.023	B;B	0.14023	0.007;0.01	T	0.44236	-0.9341	9	0.33940	T	0.23	-19.9862	12.0463	0.53480	0.0:0.9152:0.0:0.0848	.	439;439	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	I	439	.	ENSP00000333947:V439I	V	-	1	0	CHST15	125770794	0.985000	0.35326	0.983000	0.44433	0.989000	0.77384	2.574000	0.46016	0.841000	0.35020	0.467000	0.42956	GTC		0.532	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892	
APC	324	broad.mit.edu	37	5	112173917	112173917	+	Nonsense_Mutation	SNP	C	C	T	rs121913333		TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr5:112173917C>T	ENST00000457016.1	+	16	3006	c.2626C>T	c.(2626-2628)Cga>Tga	p.R876*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.R876*|APC_ENST00000257430.4_Nonsense_Mutation_p.R876*			P25054	APC_HUMAN	adenomatous polyposis coli	876	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R876*(38)|p.S874_R876>*(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTCTTCAAAGCGAGGTTTGCA	0.463		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.R858X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,NS,Substitution - Nonsense,0	.	40	Substitution - Nonsense(38)|Unknown(1)|Complex - deletion inframe(1)	large_intestine(37)|lung(1)|breast(1)|skin(1)	c.C2572T	5	GRCh37	CM942020	APC	M	rs121913333	.						70.0	72.0	71.0					5																	112173917		2202	4300	6502	112201816	SO:0001587	stop_gained	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2626C>T	5.37:g.112173917C>T	ENSP00000413133:p.Arg876*		112201816	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	37	6.588996	0.97688	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.92	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2738	14.8639	0.70401	0.3912:0.6088:0.0:0.0	.	.	.	.	X	876;858;876;876;876	.	ENSP00000257430:R876X	R	+	1	2	APC	112201816	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.385000	0.34408	0.785000	0.33685	0.557000	0.71058	CGA		0.463	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
GFRA3	2676	broad.mit.edu	37	5	137593604	137593604	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr5:137593604G>A	ENST00000274721.3	-	4	755	c.509C>T	c.(508-510)aCt>aTt	p.T170I	GFRA3_ENST00000378362.3_Missense_Mutation_p.T139I	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	170					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)	p.T170I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GTCATTGAGAGTACACAGCAT	0.647																																					p.T170I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C509T	5						.						35.0	38.0	37.0					5																	137593604		2203	4300	6503	137621503	SO:0001583	missense	2676	exon4			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.509C>T	5.37:g.137593604G>A	ENSP00000274721:p.Thr170Ile		137621503	NM_001496	B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	ENST00000274721.3	37	CCDS4201.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.335719	0.24253	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.63913	-0.07;-0.07	5.12	3.32	0.38043	GDNF/GAS1 (2);	0.166361	0.52532	D	0.000069	T	0.61451	0.2348	L	0.55834	1.745	0.30314	N	0.788206	P;P	0.39404	0.611;0.672	P;P	0.47251	0.509;0.542	T	0.59674	-0.7410	10	0.36615	T	0.2	-3.2682	8.1463	0.31113	0.1898:0.0:0.8102:0.0	.	139;170	O60609-2;O60609	.;GFRA3_HUMAN	I	170;139	ENSP00000274721:T170I;ENSP00000367613:T139I	ENSP00000274721:T170I	T	-	2	0	GFRA3	137621503	0.957000	0.32711	0.280000	0.24747	0.014000	0.08584	0.907000	0.28531	0.549000	0.28973	-0.136000	0.14681	ACT		0.647	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496	
PCDHB7	56129	broad.mit.edu	37	5	140553683	140553683	+	Missense_Mutation	SNP	G	G	A	rs369077920		TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr5:140553683G>A	ENST00000231137.3	+	1	1441	c.1267G>A	c.(1267-1269)Gtc>Atc	p.V423I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	423	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V423I(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCATCACCGTCACCGACTT	0.517																																					p.V423I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1267A	5						.	G	ILE/VAL	0,4406		0,0,2203	146.0	131.0	136.0		1267	3.6	0.2	5		136	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCDHB7	NM_018940.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	423/794	140553683	1,13005	2203	4300	6503	140533867	SO:0001583	missense	56129	exon1			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1267G>A	5.37:g.140553683G>A	ENSP00000231137:p.Val423Ile		140533867	NM_018940	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536445	0.65085	0.0	1.16E-4	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.42900	0.96	4.48	3.58	0.41010	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.52661	0.1748	M	0.90145	3.09	0.37786	D	0.927197	P	0.36222	0.544	B	0.37780	0.258	T	0.67499	-0.5655	9	0.54805	T	0.06	.	13.2826	0.60224	0.0827:0.0:0.9173:0.0	.	423	Q9Y5E2	PCDB7_HUMAN	I	423;206	ENSP00000231137:V423I	ENSP00000231137:V423I	V	+	1	0	PCDHB7	140533867	1.000000	0.71417	0.175000	0.22980	0.983000	0.72400	4.636000	0.61339	2.174000	0.68829	0.557000	0.71058	GTC		0.517	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
GPR98	84059	broad.mit.edu	37	5	90040915	90040915	+	Silent	SNP	G	G	A			TCGA-AG-A01W-01	TCGA-AG-A01W-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr5:90040915G>A	ENST00000405460.2	+	51	10698	c.10602G>A	c.(10600-10602)tcG>tcA	p.S3534S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3534	Calx-beta 23. {ECO:0000305|PubMed:11606593}.				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)	p.S3534S(2)		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)		GCTGGAATTCGGAGCGTAATC	0.388																																					p.S3534S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G10602A	5						.						359.0	342.0	347.0					5																	90040915		1877	4100	5977	90076671	SO:0001819	synonymous_variant	84059	exon51			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.10602G>A	5.37:g.90040915G>A			90076671	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	0.525	-0.860255	0.02610	.	.	ENSG00000164199	ENST00000509621	.	.	.	5.48	-0.422	0.12329	.	.	.	.	.	T	0.53883	0.1824	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40384	-0.9566	4	.	.	.	.	7.8713	0.29567	0.6872:0.1007:0.2121:0.0	.	.	.	.	Q	1100	.	.	R	+	2	0	GPR98	90076671	0.003000	0.15002	0.978000	0.43139	0.054000	0.15201	-1.361000	0.02597	-0.706000	0.05028	-1.847000	0.00572	CGG		0.388	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GFPT2	9945	broad.mit.edu	37	5	179740821	179740821	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-A01W-01	TCGA-AG-A01W-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A01W-01	TCGA-AG-A01W-01	g.chr5:179740821C>G	ENST00000253778.8	-	14	1586	c.1417G>C	c.(1417-1419)Gtg>Ctg	p.V473L	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	473	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)	p.V473L(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GTGCTGGCCACGCCGATCTCC	0.721																																					p.V473L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1417C	5						.						11.0	13.0	13.0					5																	179740821		2177	4271	6448	179673427	SO:0001583	missense	9945	exon14			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1417G>C	5.37:g.179740821C>G	ENSP00000253778:p.Val473Leu		179673427	NM_005110	Q53XM2|Q9BWS4	Missense_Mutation	SNP	ENST00000253778.8	37	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504995	0.96371	.	.	ENSG00000131459	ENST00000253778	T	0.73575	-0.76	5.8	5.8	0.92144	Sugar isomerase (SIS) (2);	0.000000	0.85682	D	0.000000	D	0.87180	0.6113	H	0.96111	3.77	0.80722	D	1	P	0.40970	0.734	P	0.45856	0.495	D	0.89808	0.3980	9	.	.	.	-30.0037	20.063	0.97692	0.0:1.0:0.0:0.0	.	473	O94808	GFPT2_HUMAN	L	473	ENSP00000253778:V473L	.	V	-	1	0	GFPT2	179673427	1.000000	0.71417	0.967000	0.41034	0.918000	0.54935	7.479000	0.81095	2.741000	0.93983	0.650000	0.86243	GTG		0.721	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110	
