#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
Unknown	0	broad.mit.edu	37	1	13183032	13183032	+	IGR	SNP	C	C	T	rs55971446	byFrequency	TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:13183032C>T								RP13-221M14.3 (18564 upstream) : PRAMEF26 (33323 downstream)																							CTGTTATCCTCTCCTTCCTCA	0.443													.|||	49	0.00978435	0.003	0.0173	5008	,	,		20163	0.0		0.0318	False		,,,				2504	0.001					uc010obg.2																			0											c.(841-843)Gag>Aag		Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.		C	LYS/GLU	9,1373		1,7,683	169.0	134.0	145.0		841	0.2	0.0	1	dbSNP_129	145	117,3065		2,113,1476	yes	missense	LOC440563	NM_001136561.2	56	3,120,2159	TT,TC,CC		3.6769,0.6512,2.7607	probably-damaging	281/294	13183032	126,4438	691	1591	2282	SO:0001628	intergenic_variant	440563					ribonucleoprotein complex	nucleic acid binding|nucleotide binding	g.chr1:13183032C>T																													1.37:g.13183032C>T							p.E281K	NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN			1	1084	-			281						Missense_Mutation	SNP		37	c.841G>A																																																																																				0	0.443								
PADI6	353238	broad.mit.edu	37	1	17721458	17721458	+	RNA	SNP	G	G	A	rs375910439		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:17721458G>A	ENST00000434762.2	+	0	1400							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCAGAGGGCCGGGCCATGAGT	0.602																																						uc001bak.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29						c.(1348-1350)cGg>cAg		Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	L-Citrulline(DB00155)	G	GLN/ARG	1,4153		0,1,2076	35.0	38.0	37.0		1350	4.2	1.0	1		37	0,8494		0,0,4247	no	missense	PADI6	NM_207421.3	43	0,1,6323	AA,AG,GG		0.0,0.0241,0.0079	probably-damaging	450/695	17721458	1,12647	2077	4247	6324			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17721458G>A	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17721458G>A							p.R450Q	NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	12	1349	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	442					Q330K5|Q70SX3	Missense_Mutation	SNP	ENST00000434762.2	37	c.1349G>A																																																																																					0.602	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421	
EMC1	23065	broad.mit.edu	37	1	19546124	19546124	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:19546124T>C	ENST00000477853.1	-	22	2783	c.2741A>G	c.(2740-2742)cAg>cGg	p.Q914R	EMC1_ENST00000375208.3_Missense_Mutation_p.Q892R|EMC1_ENST00000375199.3_Missense_Mutation_p.Q913R|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000480380.1_5'UTR	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	914						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											AGAAACTGTCTGGTTATAGTT	0.507																																						uc001bbo.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(2740-2742)cAg>cGg		Homo sapiens KIAA0090 (KIAA0090), mRNA.							126.0	109.0	115.0					1																	19546124		2203	4300	6503	SO:0001583	missense	23065					integral to membrane	protein binding	g.chr1:19546124T>C		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2741A>G	1.37:g.19546124T>C	ENSP00000420608:p.Gln914Arg					KIAA0090_uc001bbn.3_Non-coding_Transcript|KIAA0090_uc001bbp.3_Missense_Mutation_p.Q913R|KIAA0090_uc001bbq.3_Missense_Mutation_p.Q913R|KIAA0090_uc001bbr.3_Missense_Mutation_p.Q892R	p.Q914R	NM_015047	NP_055862	Q8N766	K0090_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)	21	2784	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)	914			DUF1620.		A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	c.2741A>G	CCDS190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.5|29.5	5.009845|5.009845	0.93346|0.93346	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208|ENST00000486405	T;T;T|.	0.23147|.	1.93;1.93;1.92|.	6.16|6.16	6.16|6.16	0.99307|0.99307	Domain of unknown function DUF1620 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58736|0.58736	0.2143|0.2143	L|L	0.28504|0.28504	0.86|0.86	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.998;0.998;0.999;0.999|.	D;D;D;D|.	0.83275|.	0.971;0.981;0.994;0.996|.	T|T	0.59830|0.59830	-0.7380|-0.7380	10|6	0.07175|0.51188	T|T	0.84|0.08	.|.	15.6301|15.6301	0.76899|0.76899	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	892;913;913;914|.	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766|.	.;.;.;K0090_HUMAN|.	R|G	914;913;892|137	ENSP00000420608:Q914R;ENSP00000364345:Q913R;ENSP00000364354:Q892R|.	ENSP00000364345:Q913R|ENSP00000419345:R137G	Q|R	-|-	2|1	0|2	KIAA0090|KIAA0090	19418711|19418711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.646000|7.646000	0.83445|0.83445	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	CAG|AGA		0.507	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047	
KIF17	57576	broad.mit.edu	37	1	20992723	20992723	+	Silent	SNP	G	G	A	rs528089648		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:20992723G>A	ENST00000247986.2	-	14	3205	c.2895C>T	c.(2893-2895)gaC>gaT	p.D965D	KIF17_ENST00000400463.3_Silent_p.D964D|KIF17_ENST00000375044.1_Silent_p.D865D|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	965					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCTTCCTGGCGTCTGTGCTGA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18274	0.0		0.0	False		,,,				2504	0.001					uc001bdr.4																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(2893-2895)gaC>gaT		Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.							176.0	148.0	157.0					1																	20992723		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:20992723G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2895C>T	1.37:g.20992723G>A						KIF17_uc001bdp.4_Silent_p.D242D|KIF17_uc009vpx.3_Silent_p.D335D|KIF17_uc001bds.4_Silent_p.D964D	p.D965D	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	13	3013	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	965					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.2895C>T	CCDS213.1																																																																																				0.577	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816	
NR0B2	8431	broad.mit.edu	37	1	27240176	27240176	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:27240176G>A	ENST00000254227.3	-	1	281	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	86	Ligand-binding. {ECO:0000250}.				cholesterol metabolic process (GO:0008203)|gene expression (GO:0010467)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TGCAGCAGCCGCCGCTGGTCC	0.642																																						uc001bnf.3																			0				NS(1)|large_intestine(1)|lung(3)	5						c.(256-258)Cgg>Tgg		Homo sapiens nuclear receptor subfamily 0, group B, member 2 (NR0B2), mRNA.							14.0	18.0	16.0					1																	27240176		2183	4292	6475	SO:0001583	missense	8431				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity	g.chr1:27240176G>A	AF044316	CCDS291.1	1p36.1	2013-01-16			ENSG00000131910	ENSG00000131910		"""Nuclear hormone receptors"""	7961	protein-coding gene	gene with protein product		604630				9603951	Standard	NM_021969		Approved	SHP	uc001bnf.3	Q15466	OTTHUMG00000004231	ENST00000254227.3:c.256C>T	1.37:g.27240176G>A	ENSP00000254227:p.Arg86Trp					BC016143_uc021ojq.1_Intron	p.R86W	NM_021969	NP_068804	Q15466	NR0B2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	0	392	-		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	86			Ligand-binding (By similarity).		F1D8P5|Q5QP36	Missense_Mutation	SNP	ENST00000254227.3	37	c.256C>T	CCDS291.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496316	0.44352	.	.	ENSG00000131910	ENST00000254227	D	0.84442	-1.85	5.48	3.61	0.41365	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.835029	0.11159	N	0.593257	T	0.81564	0.4849	L	0.42245	1.32	0.09310	N	1	D	0.58620	0.983	B	0.43360	0.417	T	0.69548	-0.5116	10	0.59425	D	0.04	-21.7632	11.5523	0.50726	0.1443:0.0:0.8557:0.0	.	86	Q15466	NR0B2_HUMAN	W	86	ENSP00000254227:R86W	ENSP00000254227:R86W	R	-	1	2	NR0B2	27112763	0.003000	0.15002	0.511000	0.27724	0.810000	0.45777	1.455000	0.35190	0.683000	0.31428	0.561000	0.74099	CGG		0.642	NR0B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012185.1		
Unknown	0	broad.mit.edu	37	1	144615246	144615247	+	IGR	INS	-	-	AG	rs371124631|rs200815869	byFrequency	TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:144615246_144615247insAG								RP11-640M9.2 (9355 upstream) : NBPF9 (196496 downstream)																							GTAAACCTCAAAGAGATGTTTT	0.47														1285	0.256589	0.0703	0.2709	5008	,	,		13502	0.4583		0.2247	False		,,,				2504	0.3231					uc009wig.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.e2+2		Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.																																				SO:0001628	intergenic_variant	400818							g.chr1:144615246_144615247insAG																													1.37:g.144615249_144615250dupAG						NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_5'UTR|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_5'UTR|NBPF10_uc009wif.1_Non-coding_Transcript|PFN1P2_uc001elf.4_5'Flank	p.L38_splice	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	2	308	+	all_hematologic(923;0.032)		38						Splice_Site	INS		37	c.114_splice																																																																																				0	0.470								
TNR	7143	broad.mit.edu	37	1	175372637	175372637	+	Silent	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:175372637C>T	ENST00000367674.2	-	4	1323	c.615G>A	c.(613-615)ccG>ccA	p.P205P	TNR_ENST00000263525.2_Silent_p.P205P			Q92752	TENR_HUMAN	tenascin R	205	Cys-rich.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGCAACCCAGCGGGCAGTAGG	0.597																																						uc001gkp.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(613-615)ccG>ccA		Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.							92.0	99.0	97.0					1																	175372637		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372637C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.615G>A	1.37:g.175372637C>T						TNR_uc009wwu.1_Silent_p.P205P|TNR_uc010pmz.1_Silent_p.P205P	p.P205P	NM_003285	NP_003276	Q92752	TENR_HUMAN			1	696	-	Renal(580;0.146)		205			Cys-rich.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.615G>A	CCDS1318.1																																																																																				0.597	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
CFHR2	3080	broad.mit.edu	37	1	196871608	196871608	+	Intron	SNP	G	G	A	rs200977143		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:196871608G>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000251424.4_Missense_Mutation_p.R40H|CFHR4_ENST00000367418.2_Missense_Mutation_p.R40H|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000367416.2_Missense_Mutation_p.R39H			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						AAGAGTTTGCGTAGACTATAC	0.323													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15898	0.0		0.0	False		,,,				2504	0.0					uc001gtp.3																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(118-120)cGt>cAt		Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG	1,3943		0,1,1971	124.0	128.0	127.0		119,116,119	-3.9	0.0	1		127	6,8408		0,6,4201	yes	missense,missense,missense	CFHR4	NM_001201550.2,NM_001201551.1,NM_006684.4	29,29,29	0,7,6172	AA,AG,GG		0.0713,0.0254,0.0566	probably-damaging,probably-damaging,probably-damaging	40/579,39/578,40/332	196871608	7,12351	1972	4207	6179	SO:0001627	intron_variant	10877				complement activation, alternative pathway	extracellular space		g.chr1:196871608G>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-46977G>A	1.37:g.196871608G>A						CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.R39H|CFH_uc001gto.3_Missense_Mutation_p.R40H	p.R40H	NM_001201550	NP_001188479	P08603	CFAH_HUMAN			1	256	+			341			Sushi 1.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.119G>A		.	.	.	.	.	.	.	.	.	.	.	7.683	0.689350	0.14973	2.54E-4	7.13E-4	ENSG00000134365	ENST00000367416;ENST00000251424;ENST00000538553	T;T	0.39056	1.3;1.1	3.41	-3.88	0.04205	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.51041	0.1651	M	0.65975	2.015	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.75020	0.985;0.977;0.833	T	0.43829	-0.9367	9	0.44086	T	0.13	.	3.1543	0.06499	0.2712:0.0:0.3672:0.3616	.	39;40;40	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	H	39;40;40	ENSP00000356386:R39H;ENSP00000251424:R40H	ENSP00000251424:R40H	R	+	2	0	CFHR4	195138231	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.144000	0.10280	-0.675000	0.05246	-0.484000	0.04775	CGT		0.323	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666	
NAALADL1	10004	broad.mit.edu	37	11	64825878	64825878	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr11:64825878T>A	ENST00000358658.3	-	1	143	c.116A>T	c.(115-117)gAc>gTc	p.D39V	NAALADL1_ENST00000356632.3_Missense_Mutation_p.D39V|NAALADL1_ENST00000340252.4_Missense_Mutation_p.D39V|NAALADL1_ENST00000355721.3_Missense_Mutation_p.D39V|NAALADL1_ENST00000339885.2_Missense_Mutation_p.D39V|NAALADL1_ENST00000355369.2_Missense_Mutation_p.D39V	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CAGGTCCAGGTCCTGGGGGGC	0.637																																						uc001ocn.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(115-117)gAc>gTc		Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.							44.0	41.0	42.0					11																	64825878		2201	4297	6498	SO:0001583	missense	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64825878T>A	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.116A>T	11.37:g.64825878T>A	ENSP00000351484:p.Asp39Val					NAALADL1_uc010rnw.2_5'UTR	p.D39V	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN			0	132	-			39					C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.116A>T	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.296778	0.60086	.	.	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	T;T;T;T;T;T	0.50548	1.11;0.75;0.74;1.28;1.08;1.29	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.53367	0.1792	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.52631	-0.8550	10	0.42905	T	0.14	-40.1327	11.4716	0.50272	0.0:0.0:0.0:1.0	.	39	Q9UQQ1	NALDL_HUMAN	V	39	ENSP00000351484:D39V;ENSP00000347530:D39V;ENSP00000340111:D39V;ENSP00000344244:D39V;ENSP00000347955:D39V;ENSP00000349045:D39V	ENSP00000340111:D39V	D	-	2	0	NAALADL1	64582454	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	6.251000	0.72441	1.830000	0.53286	0.418000	0.28097	GAC		0.637	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468	
SART1	9092	broad.mit.edu	37	11	65743897	65743897	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr11:65743897G>A	ENST00000312397.5	+	13	1696	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	535					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CTGGAGTCTCGCCAGCGGGGC	0.637																																						uc001ogl.3																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1603-1605)cGc>cAc		Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA.							27.0	32.0	30.0					11																	65743897		2201	4295	6496	SO:0001583	missense	9092				cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		g.chr11:65743897G>A	AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.1604G>A	11.37:g.65743897G>A	ENSP00000310448:p.Arg535His						p.R535H	NM_005146	NP_005137	O43290	SNUT1_HUMAN			12	1696	+			535					A6NDN1|Q53GB5	Missense_Mutation	SNP	ENST00000312397.5	37	c.1604G>A	CCDS31611.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.230324	0.39399	.	.	ENSG00000175467	ENST00000312397;ENST00000542816	T	0.22743	1.94	4.73	2.87	0.33458	.	0.514295	0.16994	N	0.191187	T	0.18923	0.0454	L	0.55481	1.735	0.09310	N	0.999999	B	0.16166	0.016	B	0.09377	0.004	T	0.21552	-1.0242	10	0.87932	D	0	-3.8971	6.2452	0.20813	0.3032:0.0:0.6968:0.0	.	535	O43290	SNUT1_HUMAN	H	535;377	ENSP00000310448:R535H	ENSP00000310448:R535H	R	+	2	0	SART1	65500473	0.126000	0.22350	0.283000	0.24790	0.789000	0.44602	2.394000	0.44450	0.612000	0.30071	-0.339000	0.08088	CGC		0.637	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1		
PRB2	653247	broad.mit.edu	37	12	11546320	11546322	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr12:11546320_11546322delTTG	ENST00000389362.4	-	3	725_727	c.690_692delCAA	c.(688-693)aacaag>aag	p.N230del	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	230	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTTGGGACTTGTTGTCTCCTT	0.601																																						uc010shk.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(688-693)aacaag>aag		Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.																																				SO:0001651	inframe_deletion	653247							g.chr12:11546320_11546322delTTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.690_692delCAA	12.37:g.11546323_11546325delTTG	ENSP00000374013:p.Asn230del						p.N230del	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		2	725_727	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.690_692delCAA	CCDS41757.2																																																																																				0.601	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248	
SLC38A1	81539	broad.mit.edu	37	12	46594885	46594885	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr12:46594885G>C	ENST00000398637.5	-	13	1693	c.999C>G	c.(997-999)ttC>ttG	p.F333L	SLC38A1_ENST00000439706.1_Missense_Mutation_p.F333L|SLC38A1_ENST00000552197.1_Missense_Mutation_p.F333L|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000549049.1_Missense_Mutation_p.F333L|SLC38A1_ENST00000546893.1_Missense_Mutation_p.F333L	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	333					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ACTTACCATAGAATGTCAAGT	0.299																																						uc009zkj.1																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23						c.(997-999)ttC>ttG		Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.							59.0	52.0	54.0					12																	46594885		1803	4073	5876	SO:0001583	missense	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46594885G>C	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.999C>G	12.37:g.46594885G>C	ENSP00000381634:p.Phe333Leu					SLC38A1_uc001rpb.3_Missense_Mutation_p.F333L|SLC38A1_uc001rpc.3_Missense_Mutation_p.F333L|SLC38A1_uc001rpd.3_Missense_Mutation_p.F333L|SLC38A1_uc001rpe.3_Missense_Mutation_p.F333L|SLC38A1_uc010slh.2_Missense_Mutation_p.F306L|SLC38A1_uc001rpa.3_Missense_Mutation_p.F333L	p.F333L	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		12	1684	-	Lung SC(27;0.137)|Renal(347;0.236)		333					Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	c.999C>G	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055241	0.75960	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95	5.53	2.7	0.31948	.	0.000000	0.64402	D	0.000002	T	0.34337	0.0894	M	0.88181	2.935	0.43133	D	0.994878	D;D;D	0.89917	0.999;1.0;0.995	D;D;D	0.85130	0.996;0.997;0.97	T	0.06570	-1.0819	10	0.87932	D	0	-22.1919	8.1853	0.31335	0.3843:0.0:0.6157:0.0	.	333;333;333	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	L	333	ENSP00000449607:F333L;ENSP00000398142:F333L;ENSP00000381634:F333L;ENSP00000447853:F333L;ENSP00000449756:F333L	ENSP00000381634:F333L	F	-	3	2	SLC38A1	44881152	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.543000	0.45752	0.279000	0.22186	0.557000	0.71058	TTC		0.299	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2		
OR6C6	283365	broad.mit.edu	37	12	55688832	55688832	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr12:55688832C>T	ENST00000358433.2	-	1	184	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGAGAAATTACGGAGAAAGAA	0.388																																						uc010sph.2																			0		p.L61I(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(184-186)cGt>cAt		Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.							64.0	67.0	66.0					12																	55688832		2203	4300	6503	SO:0001583	missense	283365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55688832C>T		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.185G>A	12.37:g.55688832C>T	ENSP00000351211:p.Arg62His						p.R62H	NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN			0	185	-			62						Missense_Mutation	SNP	ENST00000358433.2	37	c.185G>A	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	3.881	-0.025966	0.07589	.	.	ENSG00000188324	ENST00000358433	T	0.01084	5.36	4.24	0.321	0.15883	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000517	T	0.01800	0.0057	M	0.84219	2.685	0.09310	N	1	B	0.15719	0.014	B	0.12837	0.008	T	0.43065	-0.9414	10	0.66056	D	0.02	.	2.1956	0.03910	0.1224:0.4226:0.1199:0.335	.	62	A6NF89	OR6C6_HUMAN	H	62	ENSP00000351211:R62H	ENSP00000351211:R62H	R	-	2	0	OR6C6	53975099	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-1.335000	0.02662	-0.046000	0.13446	-1.274000	0.01402	CGT		0.388	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1		
APPL2	55198	broad.mit.edu	37	12	105600948	105600948	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr12:105600948C>T	ENST00000258530.3	-	8	737	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	APPL2_ENST00000539978.2_Missense_Mutation_p.R128Q|APPL2_ENST00000551662.1_Missense_Mutation_p.R177Q|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTGCTTCCGCCGGGCCGCGGC	0.522																																						uc010swu.1																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(529-531)cGg>cAg		Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.							69.0	66.0	67.0					12																	105600948		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105600948C>T	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.512G>A	12.37:g.105600948C>T	ENSP00000258530:p.Arg171Gln					APPL2_uc010swt.2_Missense_Mutation_p.R128Q|APPL2_uc001tlf.1_Missense_Mutation_p.R171Q|APPL2_uc001tlg.1_5'UTR|APPL2_uc009zuq.3_Missense_Mutation_p.R128Q	p.R177Q	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN			7	748	-			171			Required for RAB5A binding (By similarity).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.530G>A	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	C	37	5.983393	0.97173	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662;ENST00000553097	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	6.17	6.17	0.99709	.	0.051404	0.64402	D	0.000001	T	0.25901	0.0631	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;P;P	0.62740	0.906;0.749;0.731	T	0.00004	-1.2573	10	0.56958	D	0.05	-24.7969	20.8794	0.99867	0.0:1.0:0.0:0.0	.	177;128;171	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	Q	171;128;177;138	ENSP00000258530:R171Q;ENSP00000444472:R128Q;ENSP00000446917:R177Q;ENSP00000449767:R138Q	ENSP00000258530:R171Q	R	-	2	0	APPL2	104125078	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGG		0.522	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171	
GZMB	3002	broad.mit.edu	37	14	25100297	25100297	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr14:25100297T>C	ENST00000216341.4	-	5	830	c.724A>G	c.(724-726)Aaa>Gaa	p.K242E	GZMB_ENST00000415355.3_Missense_Mutation_p.K230E|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382542.1_Missense_Mutation_p.K276E|GZMB_ENST00000382540.1_Missense_Mutation_p.K197E			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	242	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TTCATGGTTTTCTTTATCCAG	0.493																																						uc001wps.2																			0				endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13						c.(724-726)Aaa>Gaa		Homo sapiens granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) (GZMB), mRNA.							222.0	216.0	218.0					14																	25100297		2203	4300	6503	SO:0001583	missense	3002				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	g.chr14:25100297T>C	BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"""fragmentin 2"", ""cytotoxic serine protease B"", ""cathepsin G-like 1"", ""T-cell serine protease 1-3E"""	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.724A>G	14.37:g.25100297T>C	ENSP00000216341:p.Lys242Glu					GZMB_uc010ama.2_Missense_Mutation_p.K230E|GZMB_uc010amb.2_Non-coding_Transcript	p.K242E	NM_004131	NP_004122	P10144	GRAB_HUMAN		GBM - Glioblastoma multiforme(265;0.028)	4	790	-			242			Peptidase S1.		Q8N1D2|Q9UCC1	Missense_Mutation	SNP	ENST00000216341.4	37	c.724A>G	CCDS9633.1	.	.	.	.	.	.	.	.	.	.	T	9.501	1.103345	0.20632	.	.	ENSG00000100453	ENST00000415355;ENST00000216341;ENST00000382542;ENST00000382540;ENST00000382539	T;D;D;T	0.92495	0.34;-3.05;-3.05;1.63	5.15	0.137	0.14787	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.538685	0.14229	N	0.332871	T	0.75715	0.3887	N	0.01535	-0.81	0.24912	N	0.992031	B;B	0.09022	0.0;0.002	B;B	0.09377	0.004;0.004	T	0.65961	-0.6041	10	0.35671	T	0.21	.	7.8906	0.29675	0.0:0.2937:0.0:0.7063	.	230;242	Q6XGZ4;P10144	.;GRAB_HUMAN	E	230;242;276;197;147	ENSP00000387385:K230E;ENSP00000216341:K242E;ENSP00000371982:K276E;ENSP00000371980:K197E	ENSP00000216341:K242E	K	-	1	0	GZMB	24170137	0.003000	0.15002	0.851000	0.33527	0.113000	0.19764	0.729000	0.26028	-0.040000	0.13580	0.533000	0.62120	AAA		0.493	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276540.3	NM_004131	
ESRRB	2103	broad.mit.edu	37	14	76957925	76957925	+	Missense_Mutation	SNP	A	A	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr14:76957925A>C	ENST00000509242.1	+	7	1021	c.923A>C	c.(922-924)gAt>gCt	p.D308A	ESRRB_ENST00000556177.1_Missense_Mutation_p.D308A|ESRRB_ENST00000261532.7_Missense_Mutation_p.D308A|ESRRB_ENST00000380887.2_Missense_Mutation_p.D308A	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	308					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TACATCATGGATGAGGAGCAC	0.592																																						uc001xsr.3																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(922-924)gAt>gCt		Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.							58.0	46.0	50.0					14																	76957925		2202	4297	6499	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76957925A>C	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.923A>C	14.37:g.76957925A>C	ENSP00000422488:p.Asp308Ala					ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.D308A	p.D308A	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	7	1294	+			308					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.923A>C	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752102	0.89753	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.71039	0.3293	M	0.81682	2.555	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.57720	0.826;0.826	T	0.75639	-0.3248	10	0.87932	D	0	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	308;313	Q5F0P7;E7EWD9	.;.	A	313;308;308;308;308	ENSP00000424992:D313A;ENSP00000422488:D308A;ENSP00000451658:D308A;ENSP00000370270:D308A;ENSP00000261532:D308A	ENSP00000261532:D308A	D	+	2	0	ESRRB	76027678	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	9.339000	0.96797	2.324000	0.78689	0.533000	0.62120	GAT		0.592	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1		
KCNK13	56659	broad.mit.edu	37	14	90528848	90528848	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr14:90528848C>T	ENST00000282146.4	+	1	740	c.299C>T	c.(298-300)gCc>gTc	p.A100V		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	100					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TTCACCGGCGCCTTCTACTTC	0.692																																						uc001xye.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(298-300)gCc>gTc		Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.							9.0	10.0	9.0					14																	90528848		2129	4140	6269	SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90528848C>T	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.299C>T	14.37:g.90528848C>T	ENSP00000282146:p.Ala100Val						p.A100V	NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN			0	741	+		all_cancers(154;0.186)	100					B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.299C>T	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156247	0.94686	.	.	ENSG00000152315	ENST00000282146	T	0.36520	1.25	4.41	4.41	0.53225	Ion transport 2 (1);	0.000000	0.32231	N	0.006383	T	0.67477	0.2897	M	0.90198	3.095	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.77140	-0.2697	10	0.87932	D	0	.	17.3753	0.87391	0.0:1.0:0.0:0.0	.	100	Q9HB14	KCNKD_HUMAN	V	100	ENSP00000282146:A100V	ENSP00000282146:A100V	A	+	2	0	KCNK13	89598601	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	7.522000	0.81844	2.167000	0.68274	0.313000	0.20887	GCC		0.692	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054	
FOXN1	8456	broad.mit.edu	37	17	26862064	26862064	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr17:26862064C>G	ENST00000226247.2	+	7	1504	c.1475C>G	c.(1474-1476)cCt>cGt	p.P492R	FOXN1_ENST00000579795.1_Missense_Mutation_p.P492R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	492					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CAGGACTCGCCTCTGCCTGCC	0.687																																						uc010crm.3																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1474-1476)cCt>cGt		Homo sapiens forkhead box N1 (FOXN1), mRNA.							36.0	35.0	35.0					17																	26862064		2203	4300	6503	SO:0001583	missense	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26862064C>G	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1475C>G	17.37:g.26862064C>G	ENSP00000226247:p.Pro492Arg					FOXN1_uc002hbj.3_Missense_Mutation_p.P492R	p.P492R	NM_003593	NP_003584	O15353	FOXN1_HUMAN			7	1673	+	Lung NSC(42;0.00431)		492					B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	c.1475C>G	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132419	0.77662	.	.	ENSG00000109101	ENST00000226247	D	0.94687	-3.49	4.35	4.35	0.52113	.	0.000000	0.64402	D	0.000006	D	0.96901	0.8988	M	0.74647	2.275	0.58432	D	0.999999	D	0.89917	1.0	D	0.75484	0.986	D	0.97664	1.0162	10	0.87932	D	0	.	17.0535	0.86526	0.0:1.0:0.0:0.0	.	492	O15353	FOXN1_HUMAN	R	492	ENSP00000226247:P492R	ENSP00000226247:P492R	P	+	2	0	FOXN1	23886191	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.311000	0.65786	2.251000	0.74343	0.561000	0.74099	CCT		0.687	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1		
HOXB13	10481	broad.mit.edu	37	17	46805737	46805737	+	Silent	SNP	C	C	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr17:46805737C>A	ENST00000290295.7	-	1	803	c.219G>T	c.(217-219)acG>acT	p.T73T	PRAC2_ENST00000422730.2_RNA	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	73					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						GAGCTGGGGACGTCCCCTGGG	0.652																																						uc002ioa.3																			0				endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						c.(217-219)acG>acT		Homo sapiens homeobox B13 (HOXB13), mRNA.							45.0	55.0	52.0					17																	46805737		2202	4297	6499	SO:0001819	synonymous_variant	10481				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46805737C>A	U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"""Homeoboxes / ANTP class : HOXL subclass"""	5112	protein-coding gene	gene with protein product		604607	"""homeo box B13"""			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.219G>T	17.37:g.46805737C>A							p.T73T	NM_006361	NP_006352	Q92826	HXB13_HUMAN			0	375	-			73					B2R878|Q96QM4|Q99810	Silent	SNP	ENST00000290295.7	37	c.219G>T	CCDS11536.1																																																																																				0.652	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358087.3	NM_006361	
RNF213	57674	broad.mit.edu	37	17	78262155	78262155	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr17:78262155C>G	ENST00000582970.1	+	4	946	c.803C>G	c.(802-804)gCc>gGc	p.A268G	RNF213_ENST00000319921.4_Missense_Mutation_p.A268G|RNF213_ENST00000456466.1_Missense_Mutation_p.A268G|RNF213_ENST00000508628.2_Missense_Mutation_p.A317G	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	268					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGGGCCTCAGCCTCTATGGTG	0.642																																						uc002jyh.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(949-951)gCc>gGc		SubName: Full=Uncharacterized protein;							27.0	31.0	30.0					17																	78262155		2179	4255	6434	SO:0001583	missense	57674							g.chr17:78262155C>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.803C>G	17.37:g.78262155C>G	ENSP00000464087:p.Ala268Gly					RNF213_uc002jyf.3_Missense_Mutation_p.A268G|RNF213_uc021uen.1_Missense_Mutation_p.A268G|RNF213_uc002jyg.1_5'UTR	p.A317G	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		4	1093	+	all_neural(118;0.0538)		268					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.950C>G	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	8.559	0.877268	0.17395	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T;T	0.46819	0.86;0.86	4.56	-0.382	0.12481	.	0.944031	0.08696	N	0.907140	T	0.39118	0.1066	L	0.44542	1.39	0.09310	N	1	B	0.27882	0.192	B	0.27262	0.078	T	0.38478	-0.9659	10	0.62326	D	0.03	-8.7594	9.0222	0.36206	0.1565:0.3854:0.458:0.0	.	268	Q9HCF4-2	.	G	268;317;268;268	ENSP00000392123:A268G;ENSP00000324392:A268G	ENSP00000324392:A268G	A	+	2	0	RNF213	75876750	0.000000	0.05858	0.001000	0.08648	0.061000	0.15899	-0.051000	0.11885	-0.086000	0.12550	0.655000	0.94253	GCC		0.642	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
SMIM21	284274	broad.mit.edu	37	18	73139434	73139434	+	Missense_Mutation	SNP	G	G	A	rs142533881	byFrequency	TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr18:73139434G>A	ENST00000579022.1	-	1	224	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	SMIM21_ENST00000382638.3_Missense_Mutation_p.R29W|SMIM21_ENST00000584508.1_Missense_Mutation_p.R29W	NM_001037331.2	NP_001032408.1	Q3B7S5	SMI21_HUMAN	small integral membrane protein 21	29						integral component of membrane (GO:0016021)											TTGAATATCCGTCCCATTCCT	0.498													G|||	6	0.00119808	0.0008	0.0	5008	,	,		20702	0.004		0.0	False		,,,				2504	0.001					uc002lma.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(85-87)Cgg>Tgg		Homo sapiens chromosome 18 open reading frame 62 (C18orf62), mRNA.		G	TRP/ARG	0,4406		0,0,2203	216.0	189.0	198.0		85	-4.6	0.0	18	dbSNP_134	198	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C18orf62	NM_001037331.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	29/102	73139434	2,13004	2203	4300	6503	SO:0001583	missense	284274					integral to membrane		g.chr18:73139434G>A		CCDS32845.1	18q23	2013-03-11	2013-03-11	2013-03-11	ENSG00000206026	ENSG00000206026			27598	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 62"""	C18orf62			Standard	NM_001037331		Approved		uc002lma.1	Q3B7S5	OTTHUMG00000179126	ENST00000579022.1:c.85C>T	18.37:g.73139434G>A	ENSP00000462106:p.Arg29Trp					C18orf62_uc010dqw.1_Non-coding_Transcript|C18orf62_uc002lmb.1_Non-coding_Transcript	p.R29W	NM_001037331	NP_001032408	Q3B7S5	CR062_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.21e-06)	0	156	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	29						Missense_Mutation	SNP	ENST00000579022.1	37	c.85C>T	CCDS32845.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	2	0.0034965034965034965	0	0.0	G	1.696	-0.502746	0.04261	0.0	2.33E-4	ENSG00000206026	ENST00000382638	.	.	.	2.28	-4.56	0.03431	.	.	.	.	.	T	0.15998	0.0385	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22626	-1.0211	8	0.87932	D	0	.	6.2242	0.20698	0.2335:0.1791:0.5874:0.0	.	29	Q3B7S5	CR062_HUMAN	W	29	.	ENSP00000372083:R29W	R	-	1	2	C18orf62	71268422	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.004000	0.13106	-1.094000	0.03054	0.260000	0.18958	CGG		0.498	SMIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444917.1	NM_001037331	
FAM187B	148109	broad.mit.edu	37	19	35718884	35718884	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr19:35718884A>T	ENST00000324675.3	-	1	748	c.700T>A	c.(700-702)Tgt>Agt	p.C234S		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	234						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CCTAAGGGACAGTCGAGCCAC	0.507																																						uc002nyk.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						c.(700-702)Tgt>Agt		Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.							76.0	63.0	68.0					19																	35718884		2203	4300	6503	SO:0001583	missense	148109					integral to membrane		g.chr19:35718884A>T	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.700T>A	19.37:g.35718884A>T	ENSP00000323355:p.Cys234Ser						p.C234S	NM_152481	NP_689694	Q17R55	F187B_HUMAN			0	745	-			234					Q8N7G6	Missense_Mutation	SNP	ENST00000324675.3	37	c.700T>A	CCDS12448.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.591932	0.46214	.	.	ENSG00000177558	ENST00000324675	T	0.51574	0.7	4.91	4.91	0.64330	.	0.000000	0.51477	D	0.000083	T	0.63920	0.2552	M	0.64997	1.995	0.42729	D	0.993708	D	0.89917	1.0	D	0.87578	0.998	T	0.67730	-0.5595	10	0.87932	D	0	-30.4055	11.2187	0.48842	1.0:0.0:0.0:0.0	.	234	Q17R55	F187B_HUMAN	S	234	ENSP00000323355:C234S	ENSP00000323355:C234S	C	-	1	0	FAM187B	40410724	1.000000	0.71417	0.998000	0.56505	0.041000	0.13682	4.159000	0.58157	1.960000	0.56953	0.533000	0.62120	TGT		0.507	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481	
ZIM3	114026	broad.mit.edu	37	19	57647409	57647409	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr19:57647409C>G	ENST00000269834.1	-	5	681	c.296G>C	c.(295-297)aGt>aCt	p.S99T	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	99					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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTTGCGAGACTCTCTTTCAC	0.408																																						uc002qnz.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(295-297)aGt>aCt		Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.							175.0	170.0	172.0					19																	57647409		2203	4300	6503	SO:0001583	missense	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57647409C>G	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.296G>C	19.37:g.57647409C>G	ENSP00000269834:p.Ser99Thr						p.S99T	NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	682	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	99					Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.296G>C	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	C	0.360	-0.940013	0.02322	.	.	ENSG00000141946	ENST00000269834	T	0.04706	3.57	2.18	-0.205	0.13196	.	.	.	.	.	T	0.02156	0.0067	N	0.14661	0.345	0.09310	N	1	P	0.43750	0.816	B	0.36534	0.227	T	0.40739	-0.9547	9	0.09590	T	0.72	.	5.6202	0.17453	0.0:0.6361:0.0:0.3639	.	99	Q96PE6	ZIM3_HUMAN	T	99	ENSP00000269834:S99T	ENSP00000269834:S99T	S	-	2	0	ZIM3	62339221	0.000000	0.05858	0.001000	0.08648	0.109000	0.19521	-0.791000	0.04599	-0.001000	0.14495	0.313000	0.20887	AGT		0.408	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1		
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:97869931A>T	ENST00000461153.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T998S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289																																						uc010yva.2																			13	Substitution - Missense(13)	p.T998S(13)	kidney(6)|endometrium(4)|prostate(3)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2992-2994)Aca>Tca		Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.							37.0	44.0	42.0					2																	97869931		692	1587	2279	SO:0001583	missense	375248							g.chr2:97869931A>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2992A>T	2.37:g.97869931A>T	ENSP00000419530:p.Thr998Ser					ANKRD36_uc002sxp.3_Non-coding_Transcript	p.T998S	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			49	3236	+			998					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2992A>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.819	-0.038219	0.07497	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.32753	1.44;1.44	0.63	-0.824	0.10812	.	.	.	.	.	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.28849	0.095	T	0.12837	-1.0532	8	0.38643	T	0.18	.	.	.	.	.	998	A6QL64	AN36A_HUMAN	S	998;998;360	ENSP00000419530:T998S;ENSP00000391950:T998S	ENSP00000391950:T998S	T	+	1	0	ANKRD36	97233658	0.019000	0.18553	0.011000	0.14972	0.022000	0.10575	-0.850000	0.04317	-0.324000	0.08589	0.147000	0.16070	ACA		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5		
RGPD3	653489	broad.mit.edu	37	2	107049596	107049596	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:107049596G>C	ENST00000409886.3	-	16	2438	c.2351C>G	c.(2350-2352)aCc>aGc	p.T784S	RGPD3_ENST00000304514.7_Missense_Mutation_p.T784S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	784					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGAATATTTGGTAGGAGATGG	0.338																																						uc010ywi.1																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2350-2352)aCc>aGc		Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.							4.0	6.0	6.0					2																	107049596		625	1422	2047	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049596G>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2351C>G	2.37:g.107049596G>C	ENSP00000386588:p.Thr784Ser						p.T784S	NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN			15	2408	-			784					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2351C>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.026	-1.374339	0.01214	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.21031	2.03;2.03	2.34	1.39	0.22231	.	.	.	.	.	T	0.16128	0.0388	L	0.46157	1.445	0.23095	N	0.998303	B	0.02656	0.0	B	0.01281	0.0	T	0.36841	-0.9731	9	0.13108	T	0.6	-5.5069	8.5519	0.33458	0.0:0.2418:0.7582:0.0	.	784	A6NKT7	RGPD3_HUMAN	S	784;542;784	ENSP00000386588:T784S;ENSP00000303659:T784S	ENSP00000303659:T784S	T	-	2	0	RGPD3	106416028	0.996000	0.38824	0.855000	0.33649	0.049000	0.14656	3.093000	0.50217	0.284000	0.22305	0.173000	0.16961	ACC		0.338	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931	
CNTNAP5	129684	broad.mit.edu	37	2	125405459	125405459	+	Silent	SNP	C	C	T	rs368582483		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:125405459C>T	ENST00000431078.1	+	13	2362	c.1998C>T	c.(1996-1998)gcC>gcT	p.A666A		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	666	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGCTGGAGGCCGTGATCGACG	0.622																																						uc010flu.3																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(1999-2001)gcC>gcT		Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.		C		0,4218		0,0,2109	33.0	37.0	36.0		1998	-9.4	0.0	2		36	2,8420		0,2,4209	no	coding-synonymous	CNTNAP5	NM_130773.2		0,2,6318	TT,TC,CC		0.0237,0.0,0.0158		666/1307	125405459	2,12638	2109	4211	6320	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125405459C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1998C>T	2.37:g.125405459C>T						CNTNAP5_uc002tno.3_Silent_p.A666A	p.A667A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	12	2365	+			666			Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.2001C>T	CCDS46401.1																																																																																				0.622	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
THSD7B	80731	broad.mit.edu	37	2	138033556	138033556	+	Silent	SNP	G	G	A	rs369821530		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:138033556G>A	ENST00000409968.1	+	12	2638	c.2460G>A	c.(2458-2460)acG>acA	p.T820T	THSD7B_ENST00000272643.3_Silent_p.T820T|THSD7B_ENST00000413152.2_Silent_p.T789T|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	820	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGGGAATAACGGGCAGCAGTG	0.398																																						uc002tva.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(2365-2367)acG>acA		Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.							90.0	99.0	96.0					2																	138033556		1885	4109	5994	SO:0001819	synonymous_variant	80731							g.chr2:138033556G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2460G>A	2.37:g.138033556G>A						THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.T679T	p.T789T	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	10	2367	+									Silent	SNP	ENST00000409968.1	37	c.2367G>A																																																																																					0.398	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
NEB	4703	broad.mit.edu	37	2	152425820	152425820	+	Missense_Mutation	SNP	C	C	T	rs149881695	byFrequency	TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:152425820C>T	ENST00000172853.10	-	82	12541	c.12394G>A	c.(12394-12396)Gtc>Atc	p.V4132I	NEB_ENST00000397345.3_Missense_Mutation_p.V5833I|NEB_ENST00000604864.1_Missense_Mutation_p.V5833I|NEB_ENST00000427231.2_Missense_Mutation_p.V5833I|NEB_ENST00000409198.1_Missense_Mutation_p.V4132I|NEB_ENST00000603639.1_Missense_Mutation_p.V5833I			P20929	NEBU_HUMAN	nebulin	4132					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)			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)		GCATGATTGACGGACACGGAG	0.458													C|||	7	0.00139776	0.0	0.0	5008	,	,		20153	0.0		0.004	False		,,,				2504	0.0031					uc021vrb.1																			0				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						c.(12394-12396)Gtc>Atc		Homo sapiens nebulin (NEB), transcript variant 3, mRNA.		C	ILE/VAL,ILE/VAL,ILE/VAL	2,4002		0,2,2000	117.0	119.0	118.0		17497,17497,12394	6.1	1.0	2	dbSNP_134	118	18,8320		0,18,4151	yes	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	29,29,29	0,20,6151	TT,TC,CC		0.2159,0.05,0.162	possibly-damaging,possibly-damaging,possibly-damaging	5833/8526,5833/8526,4132/6670	152425820	20,12322	2002	4169	6171	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152425820C>T	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.12394G>A	2.37:g.152425820C>T	ENSP00000172853:p.Val4132Ile					NEB_uc002txr.3_Missense_Mutation_p.V598I|NEB_uc002txu.3_Missense_Mutation_p.V5833I|NEB_uc021vrc.1_Missense_Mutation_p.V5833I|NEB_uc010fnx.3_Missense_Mutation_p.V4120I|NEB_uc021vrd.1_Missense_Mutation_p.V4132I	p.V4132I	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	80	12423	-			4132					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.12394G>A		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	18.08	3.544927	0.65198	5.0E-4	0.002159	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.08546	3.2;3.19;3.18;3.08;3.2	6.08	6.08	0.98989	.	0.056646	0.64402	D	0.000001	T	0.17365	0.0417	L	0.29908	0.895	0.80722	D	1	P;D	0.59357	0.539;0.985	B;D	0.68943	0.089;0.961	T	0.01456	-1.1350	10	0.31617	T	0.26	.	14.7834	0.69784	0.0:0.9297:0.0:0.0703	.	4132;563	P20929;Q14215	NEBU_HUMAN;.	I	4132;5833;5833;181;563;4132	ENSP00000386259:V4132I;ENSP00000380505:V5833I;ENSP00000416578:V5833I;ENSP00000410961:V563I;ENSP00000172853:V4132I	ENSP00000172853:V4132I	V	-	1	0	NEB	152134066	0.990000	0.36364	0.998000	0.56505	0.379000	0.30106	2.884000	0.48562	2.894000	0.99253	0.655000	0.94253	GTC		0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
COBLL1	22837	broad.mit.edu	37	2	165551266	165551266	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:165551266T>C	ENST00000392717.2	-	13	2868	c.2864A>G	c.(2863-2865)tAt>tGt	p.Y955C	COBLL1_ENST00000375458.2_Missense_Mutation_p.Y879C|COBLL1_ENST00000194871.6_Missense_Mutation_p.Y984C|COBLL1_ENST00000409184.3_Missense_Mutation_p.Y917C|COBLL1_ENST00000342193.4_Missense_Mutation_p.Y917C			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	955						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGATGTCACATAGTGACCCGA	0.448																																						uc002ucp.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2749-2751)tAt>tGt		Homo sapiens COBL-like 1 (COBLL1), mRNA.							42.0	44.0	43.0					2																	165551266		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165551266T>C	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2864A>G	2.37:g.165551266T>C	ENSP00000376478:p.Tyr955Cys					COBLL1_uc002ucq.3_Missense_Mutation_p.Y879C|COBLL1_uc010zcw.2_Missense_Mutation_p.Y984C|COBLL1_uc010zcx.2_Missense_Mutation_p.Y925C|COBLL1_uc002ucn.3_Missense_Mutation_p.Y345C|COBLL1_uc002uco.3_Missense_Mutation_p.Y648C	p.Y917C	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN			11	2972	-			955					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.2750A>G		.	.	.	.	.	.	.	.	.	.	T	19.09	3.760457	0.69763	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000006	T	0.78298	0.4261	M	0.66939	2.045	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.79850	-0.1629	9	0.66056	D	0.02	-15.5068	16.5655	0.84588	0.0:0.0:0.0:1.0	.	955;984;917	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	C	879;917;917;955;984	.	ENSP00000194871:Y984C	Y	-	2	0	COBLL1	165259512	1.000000	0.71417	0.998000	0.56505	0.829000	0.46940	6.778000	0.75043	2.302000	0.77476	0.533000	0.62120	TAT		0.448	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900	
TTN	7273	broad.mit.edu	37	2	179454479	179454479	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:179454479G>A	ENST00000591111.1	-	254	57274	c.57050C>T	c.(57049-57051)aCt>aTt	p.T19017I	TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T18090I|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T20658I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T11785I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T11718I|TTN_ENST00000460472.2_Missense_Mutation_p.T11593I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19017	Fibronectin type-III 37. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAATGGGAGTTTTTGTTTC	0.413																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(54268-54270)aCt>aTt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							220.0	212.0	215.0					2																	179454479		1902	4104	6006	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179454479G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.57050C>T	2.37:g.179454479G>A	ENSP00000465570:p.Thr19017Ile					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T11785I|TTN_uc021vta.1_Missense_Mutation_p.T11718I|TTN_uc021vtb.1_Missense_Mutation_p.T11593I	p.T18090I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		252	54494	-			19017			Fibronectin type-III 31.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.54269C>T		.	.	.	.	.	.	.	.	.	.	G	11.02	1.516014	0.27123	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	6.1	6.1	0.99115	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59945	0.2231	L	0.39020	1.185	0.54753	D	0.999987	D;D;D;D	0.76494	0.995;0.995;0.995;0.999	P;P;P;P	0.61874	0.82;0.82;0.82;0.895	T	0.59611	-0.7422	9	0.87932	D	0	.	19.7028	0.96062	0.0:0.0:1.0:0.0	.	11593;11718;11785;19017	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	18090;11593;11785;11718;11591	ENSP00000343764:T18090I;ENSP00000434586:T11593I;ENSP00000340554:T11785I;ENSP00000352154:T11718I	ENSP00000340554:T11785I	T	-	2	0	TTN	179162725	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.817000	0.86213	2.902000	0.99343	0.650000	0.86243	ACT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CCDC141	285025	broad.mit.edu	37	2	179730518	179730518	+	Silent	SNP	G	G	A	rs144206841		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:179730518G>A	ENST00000420890.2	-	17	2817	c.2700C>T	c.(2698-2700)tgC>tgT	p.C900C	CCDC141_ENST00000295723.5_Silent_p.C325C	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	900										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTCTCATGGCGCAGTACTCCA	0.532																																						uc002une.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(2698-2700)tgC>tgT		Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	363.0	326.0	338.0		2700	-3.1	0.0	2	dbSNP_134	338	0,8600		0,0,4300	no	coding-synonymous	CCDC141	NM_173648.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		900/1531	179730518	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	285025						protein binding	g.chr2:179730518G>A	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2700C>T	2.37:g.179730518G>A						CCDC141_uc002unf.1_Silent_p.C379C	p.C900C	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		16	2818	-			325					H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	ENST00000420890.2	37	c.2700C>T																																																																																					0.532	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648	
NEU2	4759	broad.mit.edu	37	2	233899574	233899574	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:233899574C>T	ENST00000233840.3	+	2	950	c.950C>T	c.(949-951)gCc>gTc	p.A317V		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	317					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	CGACCTCCAGCCCCTGAGGCC	0.672																																						uc010zmn.2																			0				endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(949-951)gCc>gTc		Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.							65.0	72.0	70.0					2																	233899574		2203	4300	6503	SO:0001583	missense	4759						exo-alpha-sialidase activity	g.chr2:233899574C>T	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.950C>T	2.37:g.233899574C>T	ENSP00000233840:p.Ala317Val						p.A317V	NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	1	950	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	317					Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	c.950C>T	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	C	7.681	0.689105	0.14973	.	.	ENSG00000115488	ENST00000233840	D	0.84070	-1.8	4.87	-3.49	0.04724	Neuraminidase (2);	0.998045	0.08111	N	0.996183	T	0.67915	0.2944	N	0.25647	0.755	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.53019	-0.8497	10	0.87932	D	0	-6.7362	2.4716	0.04566	0.2886:0.4078:0.0795:0.2241	.	317	Q9Y3R4	NEUR2_HUMAN	V	317	ENSP00000233840:A317V	ENSP00000233840:A317V	A	+	2	0	NEU2	233607818	0.652000	0.27349	0.000000	0.03702	0.108000	0.19459	1.670000	0.37502	-1.051000	0.03226	-0.136000	0.14681	GCC		0.672	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383	
ANO7	50636	broad.mit.edu	37	2	242149970	242149970	+	Missense_Mutation	SNP	G	G	A	rs148576854		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:242149970G>A	ENST00000274979.8	+	15	1811	c.1708G>A	c.(1708-1710)Gtc>Atc	p.V570I	ANO7_ENST00000402430.3_Missense_Mutation_p.V569I	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	570					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCTGGCCCACGTCCTGACACG	0.622																																						uc002wax.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(1708-1710)Gtc>Atc		Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	90.0	76.0	81.0		1708	-1.4	0.0	2	dbSNP_134	81	0,8600		0,0,4300	no	missense	ANO7	NM_001001891.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	570/934	242149970	1,13005	2203	4300	6503	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242149970G>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1708G>A	2.37:g.242149970G>A	ENSP00000274979:p.Val570Ile						p.V570I	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			14	1811	+			570					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.1708G>A	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	8.015	0.758262	0.15846	2.27E-4	0.0	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.62639	0.01;0.01	3.34	-1.42	0.08913	.	0.709648	0.12304	N	0.480812	T	0.41926	0.1180	L	0.41573	1.285	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.20538	-1.0272	10	0.22706	T	0.39	.	0.8037	0.01079	0.3046:0.3139:0.2228:0.1587	.	570	Q6IWH7	ANO7_HUMAN	I	570;569	ENSP00000274979:V570I;ENSP00000385418:V569I	ENSP00000274979:V570I	V	+	1	0	ANO7	241798643	0.000000	0.05858	0.000000	0.03702	0.462000	0.32619	-3.884000	0.00342	-0.308000	0.08792	0.313000	0.20887	GTC		0.622	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891	
HNF4A	3172	broad.mit.edu	37	20	43048412	43048412	+	Missense_Mutation	SNP	G	G	A	rs200985945		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr20:43048412G>A	ENST00000316099.4	+	7	877	c.788G>A	c.(787-789)cGg>cAg	p.R263Q	HNF4A_ENST00000457232.1_Missense_Mutation_p.R241Q|HNF4A_ENST00000609795.1_Missense_Mutation_p.R241Q|HNF4A_ENST00000443598.2_Missense_Mutation_p.R263Q|HNF4A_ENST00000316673.4_Missense_Mutation_p.R241Q|HNF4A_ENST00000415691.2_Missense_Mutation_p.R263Q	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	263					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GAGATGAGCCGGGTGTCCATA	0.572																																					Colon(79;2 1269 8820 14841 52347)	uc002xma.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(787-789)cGg>cAg		Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.							135.0	106.0	116.0					20																	43048412		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43048412G>A	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.788G>A	20.37:g.43048412G>A	ENSP00000312987:p.Arg263Gln					HNF4A_uc002xlt.3_Missense_Mutation_p.R241Q|HNF4A_uc002xlu.3_Missense_Mutation_p.R241Q|HNF4A_uc002xlv.3_Missense_Mutation_p.R241Q|HNF4A_uc002xly.3_Missense_Mutation_p.R263Q|HNF4A_uc010ggq.3_Missense_Mutation_p.R256Q|HNF4A_uc002xlz.3_Missense_Mutation_p.R263Q	p.R263Q	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	877	+		Myeloproliferative disorder(115;0.0122)	263					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.788G>A	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394224	0.83011	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04;-4.04	5.01	5.01	0.66863	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	2.474920	0.02008	N	0.046800	D	0.95595	0.8568	L	0.52126	1.63	0.80722	D	1	P;P;B;P;P;P;P	0.44044	0.825;0.548;0.35;0.79;0.825;0.79;0.696	B;B;B;B;B;B;B	0.36666	0.23;0.117;0.117;0.147;0.23;0.147;0.166	D	0.85342	0.1096	10	0.62326	D	0.03	.	18.3063	0.90182	0.0:0.0:1.0:0.0	.	256;263;263;263;241;241;241	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	Q	241;241;263;263;293;263	ENSP00000315180:R241Q;ENSP00000396216:R241Q;ENSP00000312987:R263Q;ENSP00000410911:R263Q;ENSP00000412111:R263Q	ENSP00000312987:R263Q	R	+	2	0	HNF4A	42481826	1.000000	0.71417	0.935000	0.37517	0.986000	0.74619	9.860000	0.99555	2.316000	0.78162	0.563000	0.77884	CGG		0.572	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3		
PABPC1L	80336	broad.mit.edu	37	20	43545422	43545422	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr20:43545422G>A	ENST00000217073.2	+	3	413	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	PABPC1L_ENST00000537323.1_Missense_Mutation_p.R138Q|PABPC1L_ENST00000217074.4_Missense_Mutation_p.R138Q|PABPC1L_ENST00000255136.3_Missense_Mutation_p.R138Q			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	138	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CATGGCTCCCGGGGTTTCGGC	0.557																																						uc010ggv.1																			0		p.R138R(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(412-414)cGg>cAg		Homo sapiens poly(A) binding protein, cytoplasmic 1-like (PABPC1L), mRNA.							154.0	139.0	143.0					20																	43545422		1568	3582	5150	SO:0001583	missense	80336						nucleotide binding|RNA binding	g.chr20:43545422G>A	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.413G>A	20.37:g.43545422G>A	ENSP00000217073:p.Arg138Gln					PABPC1L_uc010zwq.1_Non-coding_Transcript	p.R138Q	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN			2	495	+			138			RRM 2.		Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	37	c.413G>A	CCDS42878.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711004	0.68730	.	.	ENSG00000101104	ENST00000217074;ENST00000255136;ENST00000537323;ENST00000217073	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.11	4.15	0.48705	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.050839	0.85682	D	0.000000	T	0.42086	0.1187	M	0.89287	3.02	0.43313	D	0.99532	D	0.56521	0.976	P	0.51453	0.67	T	0.55611	-0.8114	10	0.87932	D	0	.	13.9611	0.64180	0.0751:0.0:0.9249:0.0	.	138	Q4VXU2	PAP1L_HUMAN	Q	138	ENSP00000217074:R138Q;ENSP00000255136:R138Q;ENSP00000445661:R138Q;ENSP00000217073:R138Q	ENSP00000217073:R138Q	R	+	2	0	PABPC1L	42978836	1.000000	0.71417	0.999000	0.59377	0.326000	0.28443	5.235000	0.65348	2.375000	0.81037	0.563000	0.77884	CGG		0.557	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2		
RBPJL	11317	broad.mit.edu	37	20	43938206	43938206	+	Splice_Site	SNP	G	G	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr20:43938206G>T	ENST00000343694.3	+	3	203		c.e3-1		MATN4_ENST00000372751.4_5'Flank|RBPJL_ENST00000372743.1_Splice_Site|MATN4_ENST00000342716.4_5'Flank|MATN4_ENST00000353917.5_5'Flank|MATN4_ENST00000360607.6_5'Flank|MATN4_ENST00000537548.1_5'Flank|RBPJL_ENST00000372741.3_Splice_Site	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like						positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CCTACTCCCAGGTCATCCCCA	0.607																																						uc002xns.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e3-1		Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.							81.0	65.0	71.0					20																	43938206		2203	4300	6503	SO:0001630	splice_region_variant	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43938206G>T	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.132-1G>T	20.37:g.43938206G>T						MATN4_uc002xnp.2_5'Flank|MATN4_uc002xnn.2_5'Flank|MATN4_uc002xno.2_5'Flank|MATN4_uc002xnr.1_5'Flank|RBPJL_uc002xnt.3_Splice_Site_p.R44_splice	p.R44_splice	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN			3	204	+		Myeloproliferative disorder(115;0.0122)	44					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Splice_Site	SNP	ENST00000343694.3	37	c.132_splice	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233904	0.58886	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	.	.	.	5.01	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4337	0.44421	0.0905:0.0:0.9095:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBPJL	43371620	1.000000	0.71417	0.996000	0.52242	0.849000	0.48306	6.664000	0.74437	1.354000	0.45846	0.456000	0.33151	.		0.607	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276	Intron
OGG1	4968	broad.mit.edu	37	3	9798237	9798237	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:9798237G>A	ENST00000344629.7	+	5	1173	c.830G>A	c.(829-831)cGt>cAt	p.R277H	OGG1_ENST00000302036.7_Missense_Mutation_p.R277H|OGG1_ENST00000339511.5_Missense_Mutation_p.R277H|OGG1_ENST00000302008.8_Missense_Mutation_p.R277H|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302003.7_Missense_Mutation_p.R277H|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Missense_Mutation_p.R277H			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	277					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					ATTGCCCAACGTGACTACAGC	0.602								Base excision repair (BER), DNA glycosylases																														uc003bsi.3																			0				kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8						c.(829-831)cGt>cAt	Base excision repair (BER), DNA glycosylases	Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 1a, mRNA.							80.0	76.0	77.0					3																	9798237		2203	4300	6503	SO:0001583	missense	4968				depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding	g.chr3:9798237G>A	U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"""8-hydroxyguanine DNA glycosylase"", ""OGG1 type 1e"", ""OGG1 type 1d"", ""OGG1 type 1g"", ""OGG1 type 1h"""	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.830G>A	3.37:g.9798237G>A	ENSP00000342851:p.Arg277His					OGG1_uc003bsj.3_Missense_Mutation_p.R277H|OGG1_uc003bsh.3_Missense_Mutation_p.R277H|OGG1_uc003bsl.3_Missense_Mutation_p.R277H|OGG1_uc003bsk.3_Missense_Mutation_p.R277H|OGG1_uc003bsm.3_Missense_Mutation_p.R277H|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|OGG1_uc003bsr.2_Missense_Mutation_p.R42H|OGG1_uc010hcm.2_Intron|OGG1_uc003bsq.2_Intron|OGG1_uc003bsp.2_Missense_Mutation_p.R42H	p.R277H	NM_002542	NP_002533	O15527	OGG1_HUMAN			4	1173	+	Medulloblastoma(99;0.227)		277					A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Missense_Mutation	SNP	ENST00000344629.7	37	c.830G>A	CCDS2581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.77|11.77	1.736930|1.736930	0.30774|0.30774	.|.	.|.	ENSG00000114026|ENSG00000114026	ENST00000302003;ENST00000344629;ENST00000302036;ENST00000339511;ENST00000449570;ENST00000302008|ENST00000441094;ENST00000416333	D;D;D;D;D;D|.	0.89270|.	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49|.	5.43|5.43	3.45|3.45	0.39498|0.39498	HhH-GPD domain (2);DNA glycosylase (1);Helix-turn-helix, base-excision DNA repair, C-terminal (1);|.	0.202733|.	0.51477|.	N|.	0.000091|.	T|T	0.73481|0.73481	0.3592|0.3592	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	B;P;P;B;B;P;B;B|.	0.37233|.	0.191;0.466;0.588;0.262;0.43;0.522;0.191;0.377|.	B;B;B;B;B;B;B;B|.	0.25884|.	0.042;0.038;0.046;0.052;0.044;0.064;0.042;0.026|.	T|T	0.72984|0.72984	-0.4125|-0.4125	10|5	0.59425|.	D|.	0.04|.	-1.2137|-1.2137	10.1125|10.1125	0.42572|0.42572	0.2524:0.0:0.7476:0.0|0.2524:0.0:0.7476:0.0	.|.	277;277;277;277;277;277;277;277|.	E5KPN1;O15527-3;E5KPM5;E5KPM7;E5KPM9;E5KPN0;O15527;O15527-2|.	.;.;.;.;.;.;OGG1_HUMAN;.|.	H|M	277|175;44	ENSP00000305584:R277H;ENSP00000342851:R277H;ENSP00000306561:R277H;ENSP00000345520:R277H;ENSP00000403598:R277H;ENSP00000305527:R277H|.	ENSP00000305584:R277H|.	R|V	+|+	2|1	0|0	OGG1|OGG1	9773237|9773237	0.986000|0.986000	0.35501|0.35501	0.120000|0.120000	0.21714|0.21714	0.292000|0.292000	0.27327|0.27327	3.345000|3.345000	0.52182|0.52182	0.645000|0.645000	0.30675|0.30675	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.602	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2	NM_016821	
NKIRAS1	28512	broad.mit.edu	37	3	23942514	23942514	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:23942514C>A	ENST00000443659.2	-	3	898	c.121G>T	c.(121-123)Gat>Tat	p.D41Y	NKIRAS1_ENST00000388759.3_Missense_Mutation_p.D41Y|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.D41Y|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.D41Y|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.D41Y|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.D41Y|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.D41Y|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.D41Y			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	41					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						ATGTATACATCTTCCATTGTT	0.413																																						uc003ccj.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						c.(121-123)Gat>Tat		Homo sapiens NFKB inhibitor interacting Ras-like 1 (NKIRAS1), mRNA.							177.0	172.0	174.0					3																	23942514		2203	4300	6503	SO:0001583	missense	28512				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr3:23942514C>A	AF229839	CCDS33717.1	3p24.1	2014-05-09	2004-05-20		ENSG00000197885	ENSG00000197885			17899	protein-coding gene	gene with protein product		604496	"""NFKB inhibitor interacting Ras-like protein 1"""			10657303	Standard	NM_020345		Approved	KBRAS1, kappaB-Ras1	uc003ccj.3	Q9NYS0	OTTHUMG00000155605	ENST00000443659.2:c.121G>T	3.37:g.23942514C>A	ENSP00000393785:p.Asp41Tyr					NKIRAS1_uc003cck.3_Missense_Mutation_p.D41Y	p.D41Y	NM_020345	NP_065078	Q9NYS0	KBRS1_HUMAN			3	523	-			41					Q96K18	Missense_Mutation	SNP	ENST00000443659.2	37	c.121G>T	CCDS33717.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573132	0.86542	.	.	ENSG00000197885	ENST00000388759;ENST00000443659;ENST00000421515;ENST00000425478;ENST00000437230;ENST00000412028;ENST00000415901;ENST00000416026	D;D;D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.56	5.56	0.83823	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94928	0.8360	H	0.98068	4.14	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.99;0.994	D	0.96581	0.9430	10	0.87932	D	0	-29.483	19.1246	0.93376	0.0:1.0:0.0:0.0	.	41;41	G5E9P3;Q9NYS0	.;KBRS1_HUMAN	Y	41	ENSP00000373411:D41Y;ENSP00000393785:D41Y;ENSP00000392307:D41Y;ENSP00000400385:D41Y;ENSP00000406543:D41Y;ENSP00000396063:D41Y;ENSP00000415225:D41Y;ENSP00000394214:D41Y	ENSP00000373411:D41Y	D	-	1	0	NKIRAS1	23917518	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.818000	0.86416	2.618000	0.88619	0.491000	0.48974	GAT		0.413	NKIRAS1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340876.2	NM_020345	
ACTR8	93973	broad.mit.edu	37	3	53909976	53909976	+	Splice_Site	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:53909976G>A	ENST00000335754.3	-	7	1010	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	ACTR8_ENST00000482349.1_Splice_Site_p.R193W|ACTR8_ENST00000231909.7_Splice_Site_p.R54C	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	304					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		GTTCCTTACCGAGTATTCCGA	0.433																																						uc003dhd.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19						c.e7+1		Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.							166.0	156.0	159.0					3																	53909976		2203	4300	6503	SO:0001630	splice_region_variant	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53909976G>A		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.911+1C>T	3.37:g.53909976G>A						ACTR8_uc003dhb.3_Splice_Site_p.R54_splice|ACTR8_uc003dhc.3_Splice_Site_p.R193_splice	p.R304_splice	NM_022899	NP_075050	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	7	1012	-			304					B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	c.911_splice	CCDS2875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.471205|4.471205	0.84533|0.84533	.|.	.|.	ENSG00000113812|ENSG00000113812	ENST00000231909|ENST00000335754;ENST00000482349	D|D;D	0.97505|0.94280	-4.41|-3.39;-3.39	5.87|5.87	3.95|3.95	0.45737|0.45737	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.96765|0.96765	0.8944|0.8944	M|M	0.89478|0.89478	3.035|3.035	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.89917	1.0|1.0	D|D	0.85130|0.97110	0.997|1.0	D|D	0.97226|0.97226	0.9881|0.9881	10|10	0.87932|0.87932	D|D	0|0	0.015|0.015	12.3619|12.3619	0.55207|0.55207	0.0:0.0:0.566:0.434|0.0:0.0:0.566:0.434	.|.	54|304	Q9H981-3|Q9H981	.|ARP8_HUMAN	C|W	54|304;193	ENSP00000231909:R54C|ENSP00000336842:R304W;ENSP00000419429:R193W	ENSP00000231909:R54C|ENSP00000336842:R304W	R|R	-|-	1|1	0|2	ACTR8|ACTR8	53885016|53885016	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	3.751000|3.751000	0.55165|0.55165	1.602000|1.602000	0.50124|0.50124	0.655000|0.655000	0.94253|0.94253	CGC|CGG		0.433	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899	Missense_Mutation
EPHA6	285220	broad.mit.edu	37	3	97167503	97167503	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:97167503A>T	ENST00000389672.5	+	7	1861	c.1823A>T	c.(1822-1824)cAc>cTc	p.H608L	EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR|EPHA6_ENST00000502694.1_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	514						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TATGTATTTCACATCCGAGTG	0.448																																						uc010how.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(1822-1824)cAc>cTc		Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.							115.0	112.0	113.0					3																	97167503		1907	4136	6043	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97167503A>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1823A>T	3.37:g.97167503A>T	ENSP00000374323:p.His608Leu					EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_5'UTR|EPHA6_uc003drs.4_5'UTR|EPHA6_uc003drr.4_5'UTR|EPHA6_uc003drt.3_5'UTR|EPHA6_uc010hox.1_Non-coding_Transcript	p.H608L	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			6	1866	+			513					D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.1823A>T	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.753226	0.49362	.	.	ENSG00000080224	ENST00000389672	T	0.56941	0.43	5.65	5.65	0.86999	.	.	.	.	.	T	0.58935	0.2157	L	0.41573	1.285	0.80722	D	1	.	.	.	.	.	.	T	0.62215	-0.6901	7	0.87932	D	0	.	15.8891	0.79279	1.0:0.0:0.0:0.0	.	.	.	.	L	608	ENSP00000374323:H608L	ENSP00000374323:H608L	H	+	2	0	EPHA6	98650193	1.000000	0.71417	0.988000	0.46212	0.852000	0.48524	4.852000	0.62904	2.149000	0.67028	0.533000	0.62120	CAC		0.448	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448	
MORC1	27136	broad.mit.edu	37	3	108698509	108698509	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:108698509A>T	ENST00000483760.1	-	23	2310	c.2267T>A	c.(2266-2268)cTc>cAc	p.L756H	MORC1_ENST00000232603.5_Missense_Mutation_p.L777H					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CGGCACATTGAGCAAGCTGAG	0.368																																						uc003dxl.3																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(2329-2331)cTc>cAc		Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.							111.0	105.0	107.0					3																	108698509		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108698509A>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2267T>A	3.37:g.108698509A>T	ENSP00000417282:p.Leu756His					MORC1_uc011bhn.2_Missense_Mutation_p.L756H	p.L777H	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			23	2417	-			777						Missense_Mutation	SNP	ENST00000483760.1	37	c.2330T>A		.	.	.	.	.	.	.	.	.	.	A	1.896	-0.454203	0.04540	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06068	3.36;3.35	4.88	-0.92	0.10475	.	1.996540	0.02195	N	0.061683	T	0.03783	0.0107	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.36114	-0.9761	10	0.13108	T	0.6	6.0434	0.5859	0.00720	0.3425:0.1703:0.3134:0.1738	.	756;777	E7ERX1;Q86VD1	.;MORC1_HUMAN	H	777;756	ENSP00000232603:L777H;ENSP00000417282:L756H	ENSP00000232603:L777H	L	-	2	0	MORC1	110181199	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.182000	0.09726	-0.015000	0.14150	-0.621000	0.04028	CTC		0.368	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		
UGT2A3	79799	broad.mit.edu	37	4	69796959	69796959	+	Splice_Site	SNP	A	A	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr4:69796959A>C	ENST00000251566.4	-	4	1028	c.998T>G	c.(997-999)gTg>gGg	p.V333G	UGT2A3_ENST00000420231.2_Splice_Site_p.V44G	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	333					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCTCCATAACACCTACGGAAG	0.373																																						uc003hef.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.e4-1		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.							138.0	118.0	124.0					4																	69796959		2203	4300	6503	SO:0001630	splice_region_variant	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69796959A>C		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.997-1T>G	4.37:g.69796959A>C						UGT2A3_uc010ihp.1_Splice_Site	p.V333_splice	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			4	1028	-			333					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.997_splice	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.661027	0.47572	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.66638	-0.22;2.91	1.99	1.99	0.26369	.	0.000000	0.85682	D	0.000000	D	0.84361	0.5455	H	0.96547	3.84	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.84556	0.0647	10	0.87932	D	0	.	7.5652	0.27874	1.0:0.0:0.0:0.0	.	333	Q6UWM9	UD2A3_HUMAN	G	333;44	ENSP00000251566:V333G;ENSP00000440115:V44G	ENSP00000251566:V333G	V	-	2	0	UGT2A3	69831548	1.000000	0.71417	0.065000	0.19835	0.039000	0.13416	6.760000	0.74939	0.905000	0.36596	0.402000	0.26972	GTG		0.373	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743	Missense_Mutation
DDX60	55601	broad.mit.edu	37	4	169196591	169196591	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr4:169196591G>A	ENST00000393743.3	-	16	2500	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	737					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.R737W(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGTTGGAACCGAGCTGGCCCA	0.393																																						uc003irp.3																			2	Substitution - Missense(2)	p.R737W(3)|p.R737Q(1)	central_nervous_system(2)	breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(2209-2211)Cgg>Tgg		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.							100.0	97.0	98.0					4																	169196591		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169196591G>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2209C>T	4.37:g.169196591G>A	ENSP00000377344:p.Arg737Trp						p.R737W	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	15	2501	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	737					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.2209C>T	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174401	0.57692	.	.	ENSG00000137628	ENST00000393743	T	0.19532	2.14	5.37	2.62	0.31277	.	0.102711	0.43110	D	0.000614	T	0.30885	0.0779	L	0.32530	0.975	0.33200	D	0.552031	D	0.89917	1.0	D	0.97110	1.0	T	0.35992	-0.9766	10	0.56958	D	0.05	.	8.9432	0.35742	0.0699:0.0:0.6638:0.2663	.	737	Q8IY21	DDX60_HUMAN	W	737	ENSP00000377344:R737W	ENSP00000377344:R737W	R	-	1	2	DDX60	169433166	1.000000	0.71417	0.267000	0.24556	0.683000	0.39861	3.490000	0.53245	0.297000	0.22615	0.563000	0.77884	CGG		0.393	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631	
KCNQ5	56479	broad.mit.edu	37	6	73713705	73713705	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr6:73713705G>T	ENST00000370398.1	+	2	582	c.473G>T	c.(472-474)aGt>aTt	p.S158I	KCNQ5_ENST00000342056.2_Missense_Mutation_p.S158I|KCNQ5_ENST00000370392.1_Missense_Mutation_p.S158I|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S158I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S158I|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S158I|KCNQ5_ENST00000355635.3_Missense_Mutation_p.S158I|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S158I	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	158					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TTGGCCTCAAGTTGCCTCTTG	0.358																																					GBM(142;1375 1859 14391 23261 44706)	uc011dyh.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(472-474)aGt>aTt		Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.							182.0	155.0	164.0					6																	73713705		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73713705G>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.473G>T	6.37:g.73713705G>T	ENSP00000359425:p.Ser158Ile					KCNQ5_uc003pgj.4_Missense_Mutation_p.S158I|KCNQ5_uc011dyi.2_Missense_Mutation_p.S158I|KCNQ5_uc010kat.3_Missense_Mutation_p.S158I|KCNQ5_uc003pgk.3_Missense_Mutation_p.S158I|KCNQ5_uc011dyj.2_Missense_Mutation_p.S158I|KCNQ5_uc011dyk.2_5'UTR	p.S158I	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	1	820	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	158					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.473G>T	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079823	0.36662	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	5.58	5.58	0.84498	.	0.305106	0.39210	N	0.001421	T	0.70281	0.3206	N	0.11560	0.145	0.36760	D	0.883235	P;P;B;B;B;B	0.48016	0.904;0.727;0.016;0.009;0.291;0.391	P;B;B;B;B;B	0.45829	0.494;0.242;0.008;0.012;0.122;0.257	T	0.74830	-0.3531	10	0.35671	T	0.21	.	12.1033	0.53796	0.0799:0.0:0.9201:0.0	.	158;158;158;158;158;158	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	I	158	ENSP00000345055:S158I;ENSP00000347326:S158I;ENSP00000359425:S158I;ENSP00000359419:S158I;ENSP00000385501:S158I;ENSP00000347853:S158I;ENSP00000384453:S158I;ENSP00000409861:S158I	ENSP00000345055:S158I	S	+	2	0	KCNQ5	73770426	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.135000	0.57997	2.769000	0.95229	0.655000	0.94253	AGT		0.358	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842	
COL12A1	1303	broad.mit.edu	37	6	75858174	75858174	+	Missense_Mutation	SNP	C	C	T	rs370549168	byFrequency	TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr6:75858174C>T	ENST00000322507.8	-	22	4496	c.4187G>A	c.(4186-4188)cGa>cAa	p.R1396Q	COL12A1_ENST00000416123.2_Missense_Mutation_p.R1396Q|COL12A1_ENST00000345356.6_Missense_Mutation_p.R232Q|COL12A1_ENST00000483888.2_Missense_Mutation_p.R1396Q	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1396	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACGATGGGTTCGCTCAGAAAT	0.398													C|||	2	0.000399361	0.0	0.0	5008	,	,		18567	0.0		0.0	False		,,,				2504	0.002					uc021zbv.1																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(4186-4188)cGa>cAa		Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.		C	GLN/ARG,GLN/ARG	0,3790		0,0,1895	99.0	93.0	95.0		4187,695	2.9	1.0	6		95	1,8233		0,1,4116	no	missense,missense	COL12A1	NM_004370.5,NM_080645.2	43,43	0,1,6011	TT,TC,CC		0.0121,0.0,0.0083	benign,benign	1396/3064,232/1900	75858174	1,12023	1895	4117	6012	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75858174C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.4187G>A	6.37:g.75858174C>T	ENSP00000325146:p.Arg1396Gln					COL12A1_uc021zbw.1_Missense_Mutation_p.R232Q|COL12A1_uc003phs.3_Missense_Mutation_p.R1396Q|COL12A1_uc003pht.3_Missense_Mutation_p.R232Q	p.R1396Q	NM_004370	NP_004361	Q99715	COCA1_HUMAN			20	4222	-			1396			Fibronectin type-III 9.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.4187G>A	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612873	0.28712	0.0	1.21E-4	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.76	2.9	0.33743	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.816994	0.11179	N	0.591195	T	0.11024	0.0269	N	0.10916	0.065	0.20821	N	0.999843	B;B	0.16603	0.005;0.018	B;B	0.12837	0.003;0.008	T	0.16041	-1.0416	10	0.25106	T	0.35	.	2.4255	0.04458	0.2542:0.4827:0.1092:0.1539	.	232;1396	Q99715-2;Q99715	.;COCA1_HUMAN	Q	1396;1396;232;1396;1396	ENSP00000325146:R1396Q;ENSP00000305147:R232Q;ENSP00000412864:R1396Q;ENSP00000421216:R1396Q	ENSP00000325146:R1396Q	R	-	2	0	COL12A1	75914894	0.254000	0.23992	1.000000	0.80357	0.999000	0.98932	1.686000	0.37669	1.445000	0.47624	0.650000	0.86243	CGA		0.398	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
BVES	11149	broad.mit.edu	37	6	105573416	105573416	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr6:105573416C>T	ENST00000314641.5	-	4	605	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	BVES_ENST00000336775.5_Missense_Mutation_p.R130Q|BVES_ENST00000446408.2_Missense_Mutation_p.R130Q	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	130					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TTCAAACAATCGCCGGTACAT	0.443																																						uc003pqw.3																			0				NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(388-390)cGa>cAa		Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.							148.0	142.0	144.0					6																	105573416		2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105573416C>T	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.389G>A	6.37:g.105573416C>T	ENSP00000313172:p.Arg130Gln					BVES_uc003pqx.3_Missense_Mutation_p.R130Q|BVES_uc003pqy.3_Missense_Mutation_p.R130Q	p.R130Q	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN			3	546	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	130					A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.389G>A	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970538	0.92919	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.30448	1.53;1.53;1.53	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.42337	0.1198	L	0.54323	1.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.03148	-1.1067	10	0.22706	T	0.39	-28.268	19.8324	0.96640	0.0:1.0:0.0:0.0	.	130	Q8NE79	POPD1_HUMAN	Q	130	ENSP00000313172:R130Q;ENSP00000337259:R130Q;ENSP00000397310:R130Q	ENSP00000313172:R130Q	R	-	2	0	BVES	105680109	1.000000	0.71417	0.986000	0.45419	0.954000	0.61252	7.377000	0.79668	2.680000	0.91292	0.655000	0.94253	CGA		0.443	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147	
T	6862	broad.mit.edu	37	6	166571970	166571970	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr6:166571970C>T	ENST00000296946.2	-	9	1609	c.1141G>A	c.(1141-1143)Gcg>Acg	p.A381T	T_ENST00000366871.3_Missense_Mutation_p.A323T	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	381					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A381T(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GTGTAGTGCGCGGGGGAGCCC	0.711									Chordoma, Familial Clustering of																													uc003qut.1																			1	Substitution - Missense(1)	p.A381T(2)|p.A381E(1)	lung(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(1144-1146)Gcg>Acg		Homo sapiens T, brachyury homolog (mouse) (T), mRNA.							29.0	37.0	35.0					6																	166571970		2202	4298	6500	SO:0001583	missense	6862	Chordoma, Familial Clustering of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166571970C>T	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1141G>A	6.37:g.166571970C>T	ENSP00000296946:p.Ala381Thr					T_uc003quu.1_Missense_Mutation_p.A381T|T_uc003quv.1_Missense_Mutation_p.A323T	p.A382T	NM_003181	NP_003172	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	7	1430	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	381					E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	c.1144G>A	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	C	8.243	0.807183	0.16467	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D	0.83506	-1.69;-1.73	4.79	2.0	0.26442	.	0.838244	0.10388	N	0.680694	T	0.52191	0.1719	L	0.41027	1.25	0.09310	N	1	B;B;B	0.12630	0.001;0.003;0.006	B;B;B	0.08055	0.001;0.003;0.002	T	0.34576	-0.9823	10	0.17369	T	0.5	.	4.9617	0.14070	0.0:0.5898:0.1547:0.2555	.	323;381;323	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	T	381;381;323	ENSP00000296946:A381T;ENSP00000355836:A323T	ENSP00000296946:A381T	A	-	1	0	T	166491960	0.006000	0.16342	0.000000	0.03702	0.097000	0.18754	0.768000	0.26590	0.538000	0.28769	0.561000	0.74099	GCG		0.711	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181	
FERD3L	222894	broad.mit.edu	37	7	19184907	19184907	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:19184907G>A	ENST00000275461.3	-	1	137	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	27					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						AGGAGAGGGCGTCTCGGGGAG	0.677																																						uc003suo.1																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						c.(79-81)Cgc>Tgc		Homo sapiens Fer3-like (Drosophila) (FERD3L), mRNA.							37.0	35.0	36.0					7																	19184907		2203	4300	6503	SO:0001583	missense	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184907G>A	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.79C>T	7.37:g.19184907G>A	ENSP00000275461:p.Arg27Cys					BC043576_uc003sun.1_Non-coding_Transcript	p.R27C	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN			0	138	-			27					Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	c.79C>T	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.097421	0.37048	.	.	ENSG00000146618	ENST00000275461	D	0.96427	-4.01	5.66	4.78	0.61160	.	0.931729	0.09018	N	0.860560	D	0.90103	0.6908	N	0.08118	0	0.09310	N	1	P	0.40000	0.698	B	0.33799	0.17	T	0.82178	-0.0586	10	0.38643	T	0.18	-4.9157	12.0967	0.53758	0.0:0.1877:0.7087:0.1036	.	27	Q96RJ6	FER3L_HUMAN	C	27	ENSP00000275461:R27C	ENSP00000275461:R27C	R	-	1	0	FERD3L	19151432	0.007000	0.16637	0.906000	0.35671	0.755000	0.42902	1.468000	0.35332	1.382000	0.46385	0.650000	0.86243	CGC		0.677	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1		
UPP1	7378	broad.mit.edu	37	7	48139333	48139333	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:48139333C>A	ENST00000331803.4	+	5	734	c.111C>A	c.(109-111)ttC>ttA	p.F37L	UPP1_ENST00000395564.4_Missense_Mutation_p.F37L|UPP1_ENST00000482015.1_Intron|UPP1_ENST00000429491.2_Intron|UPP1_ENST00000341253.4_Missense_Mutation_p.F37L			Q16831	UPP1_HUMAN	uridine phosphorylase 1	37					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	TCTATCATTTCAATCTCACCA	0.393																																						uc003toj.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(109-111)ttC>ttA		Homo sapiens uridine phosphorylase 1 (UPP1), transcript variant 2, mRNA.							144.0	143.0	143.0					7																	48139333		2203	4300	6503	SO:0001583	missense	7378				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	g.chr7:48139333C>A	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.111C>A	7.37:g.48139333C>A	ENSP00000330032:p.Phe37Leu					UPP1_uc003tok.3_Missense_Mutation_p.F37L|UPP1_uc003tol.3_Missense_Mutation_p.F37L|UPP1_uc011kcg.1_Missense_Mutation_p.F37L|UPP1_uc011kch.2_Intron|UPP1_uc003ton.3_Intron	p.F37L	NM_181597	NP_853628	Q16831	UPP1_HUMAN			4	640	+			37					D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	37	c.111C>A	CCDS5507.1	.	.	.	.	.	.	.	.	.	.	C	3.031	-0.199695	0.06219	.	.	ENSG00000183696	ENST00000416681;ENST00000331803;ENST00000341253;ENST00000395564;ENST00000436673	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.58	0.141	0.14811	.	0.097503	0.64402	N	0.000001	T	0.11537	0.0281	N	0.16903	0.455	0.80722	D	1	P;B	0.35107	0.484;0.025	B;B	0.28991	0.097;0.032	T	0.33214	-0.9877	10	0.02654	T	1	-28.3263	0.8992	0.01270	0.1446:0.2507:0.2833:0.3214	.	37;37	B4DND0;Q16831	.;UPP1_HUMAN	L	37	ENSP00000405209:F37L;ENSP00000330032:F37L;ENSP00000342878:F37L;ENSP00000378931:F37L;ENSP00000390118:F37L	ENSP00000330032:F37L	F	+	3	2	UPP1	48105858	0.994000	0.37717	0.199000	0.23439	0.964000	0.63967	0.422000	0.21296	0.007000	0.14760	-0.300000	0.09419	TTC		0.393	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364	
UPP1	7378	broad.mit.edu	37	7	48146585	48146585	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:48146585G>T	ENST00000331803.4	+	8	1175	c.552G>T	c.(550-552)aaG>aaT	p.K184N	UPP1_ENST00000395564.4_Missense_Mutation_p.K184N|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000429491.2_Missense_Mutation_p.K47N|UPP1_ENST00000341253.4_Missense_Mutation_p.K184N			Q16831	UPP1_HUMAN	uridine phosphorylase 1	184					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	ACCTTAACAAGAAGCTGGTGC	0.537																																						uc003toj.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(550-552)aaG>aaT		Homo sapiens uridine phosphorylase 1 (UPP1), transcript variant 2, mRNA.							121.0	114.0	117.0					7																	48146585		2203	4300	6503	SO:0001583	missense	7378				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	g.chr7:48146585G>T	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.552G>T	7.37:g.48146585G>T	ENSP00000330032:p.Lys184Asn					UPP1_uc003tok.3_Missense_Mutation_p.K184N|UPP1_uc003tol.3_Missense_Mutation_p.K184N|UPP1_uc011kch.2_5'UTR|UPP1_uc003ton.3_Missense_Mutation_p.K47N	p.K184N	NM_181597	NP_853628	Q16831	UPP1_HUMAN			7	1081	+			184					D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	37	c.552G>T	CCDS5507.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571316	0.28003	.	.	ENSG00000183696	ENST00000331803;ENST00000341253;ENST00000395564;ENST00000429491	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.9	2.05	0.26809	Nucleoside phosphorylase domain (1);	1.135540	0.06203	N	0.683606	D	0.83945	0.5364	L	0.42744	1.35	0.09310	N	1	B;B	0.33694	0.421;0.281	B;B	0.41466	0.209;0.358	T	0.72100	-0.4392	10	0.39692	T	0.17	-8.1131	3.6246	0.08108	0.0879:0.1357:0.4413:0.3351	.	47;184	Q86Y75;Q16831	.;UPP1_HUMAN	N	184;184;184;47	ENSP00000330032:K184N;ENSP00000342878:K184N;ENSP00000378931:K184N;ENSP00000406224:K47N	ENSP00000330032:K184N	K	+	3	2	UPP1	48113110	0.000000	0.05858	0.002000	0.10522	0.446000	0.32137	0.358000	0.20216	0.834000	0.34852	0.650000	0.86243	AAG		0.537	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364	
EGFR	1956	broad.mit.edu	37	7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:55221821G>A	ENST00000275493.2	+	7	1042	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_ENST00000454757.2_Missense_Mutation_p.A236T|EGFR_ENST00000420316.2_Missense_Mutation_p.A289T|EGFR_ENST00000344576.2_Missense_Mutation_p.A289T|EGFR_ENST00000455089.1_Missense_Mutation_p.A244T|EGFR_ENST00000342916.3_Missense_Mutation_p.A289T|EGFR_ENST00000442591.1_Missense_Mutation_p.A289T	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		3	Substitution - Missense(3)	p.A289V(20)|p.A289T(6)|p.V30_R297>G(5)|p.A289D(3)	central_nervous_system(3)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)Gcc>Acc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						179.0	143.0	155.0					7																	55221821		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221821G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.865G>A	7.37:g.55221821G>A	ENSP00000275493:p.Ala289Thr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289T	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1111	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.865G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	36	5.802519	0.96960	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.82093	0.4962	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.89917	0.985;0.992;1.0;1.0;0.999	P;D;D;D;D	0.74023	0.766;0.974;0.976;0.982;0.912	D	0.83919	0.0300	10	0.87932	D	0	.	18.9232	0.92534	0.0:0.0:1.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	T	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244T;ENSP00000342376:A289T;ENSP00000345973:A289T;ENSP00000413843:A289T;ENSP00000275493:A289T;ENSP00000410031:A289T;ENSP00000395243:A236T	ENSP00000275493:A289T	A	+	1	0	EGFR	55189315	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.968000	0.87980	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
FZD1	8321	broad.mit.edu	37	7	90894669	90894669	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:90894669A>T	ENST00000287934.2	+	1	887	c.474A>T	c.(472-474)aaA>aaT	p.K158N		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	158	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTCTAGTGAAAGTGCAGTGTT	0.632																																						uc003ula.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(472-474)aaA>aaT		Homo sapiens frizzled family receptor 1 (FZD1), mRNA.							172.0	162.0	165.0					7																	90894669		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90894669A>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.474A>T	7.37:g.90894669A>T	ENSP00000287934:p.Lys158Asn						p.K158N	NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		0	887	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		158			FZ.		A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.474A>T	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.181285	0.57800	.	.	ENSG00000157240	ENST00000287934	T	0.79554	-1.28	4.54	3.61	0.41365	Frizzled domain (5);	0.000000	0.64402	D	0.000002	T	0.82204	0.4986	L	0.33189	0.99	0.58432	D	0.999998	D	0.65815	0.995	D	0.67382	0.951	T	0.82872	-0.0242	10	0.87932	D	0	.	10.5879	0.45294	0.0994:0.0:0.9006:0.0	.	158	Q9UP38	FZD1_HUMAN	N	158	ENSP00000287934:K158N	ENSP00000287934:K158N	K	+	3	2	FZD1	90732605	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.563000	0.45922	1.045000	0.40225	0.454000	0.30748	AAA		0.632	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505	
MUC17	140453	broad.mit.edu	37	7	100685376	100685376	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:100685376C>G	ENST00000306151.4	+	3	10743	c.10679C>G	c.(10678-10680)aCt>aGt	p.T3560S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3560	59 X approximate tandem repeats.|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)			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)					TCTCCAGCAACTCTTCAGGTC	0.478																																						uc003uxp.1																			0				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						c.(10678-10680)aCt>aGt		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							221.0	224.0	223.0					7																	100685376		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685376C>G	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.10679C>G	7.37:g.100685376C>G	ENSP00000302716:p.Thr3560Ser					MUC17_uc010lho.1_Non-coding_Transcript	p.T3560S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	10732	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3560			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10679C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	6.938	0.542906	0.13250	.	.	ENSG00000169876	ENST00000306151	T	0.02737	4.18	0.782	0.782	0.18567	.	.	.	.	.	T	0.04634	0.0126	N	0.19112	0.55	0.09310	N	1	P	0.52692	0.955	D	0.65443	0.935	T	0.47548	-0.9109	9	0.14656	T	0.56	.	7.3946	0.26929	0.0:0.9999:0.0:1.0E-4	.	3560	Q685J3	MUC17_HUMAN	S	3560	ENSP00000302716:T3560S	ENSP00000302716:T3560S	T	+	2	0	MUC17	100472096	0.001000	0.12720	0.005000	0.12908	0.003000	0.03518	0.874000	0.28065	0.701000	0.31803	0.196000	0.17591	ACT		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
DGKI	9162	broad.mit.edu	37	7	137263039	137263039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:137263039G>A	ENST00000288490.5	-	16	1675	c.1675C>T	c.(1675-1677)Cga>Tga	p.R559*	DGKI_ENST00000453654.2_Nonsense_Mutation_p.R259*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.R559*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.R559*	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	559					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.R559*(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATTTTATTTCGAAAACGACTG	0.338																																						uc003vtt.3																			2	Substitution - Nonsense(2)	p.R559*(3)	breast(2)	breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1675-1677)Cga>Tga		Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.							66.0	67.0	67.0					7																	137263039		2202	4298	6500	SO:0001587	stop_gained	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137263039G>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1675C>T	7.37:g.137263039G>A	ENSP00000288490:p.Arg559*					DGKI_uc003vtu.3_Nonsense_Mutation_p.R259*	p.R559*	NM_004717	NP_004708	O75912	DGKI_HUMAN			15	1676	-			559					A4D1Q9|Q9NZ49	Nonsense_Mutation	SNP	ENST00000288490.5	37	c.1675C>T	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	41	8.960103	0.99018	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	5.15	3.16	0.36331	.	0.061993	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0951	0.65016	0.0:0.0:0.6495:0.3505	.	.	.	.	X	259;507;559;559;559	.	ENSP00000288490:R559X	R	-	1	2	DGKI	136913579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.259000	0.32956	1.248000	0.43934	0.462000	0.41574	CGA		0.338	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717	
PSD3	23362	broad.mit.edu	37	8	18432725	18432725	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:18432725A>G	ENST00000327040.8	-	13	2654	c.2552T>C	c.(2551-2553)tTg>tCg	p.L851S	PSD3_ENST00000286485.8_Missense_Mutation_p.L317S|PSD3_ENST00000523619.1_Missense_Mutation_p.L786S|PSD3_ENST00000428502.2_Missense_Mutation_p.L180S|PSD3_ENST00000440756.2_Missense_Mutation_p.L853S	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	852	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTTGGATGCCAATGCGTGGTG	0.428																																						uc003wza.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2551-2553)tTg>tCg		Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.							126.0	118.0	120.0					8																	18432725		2203	4300	6503	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18432725A>G	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2552T>C	8.37:g.18432725A>G	ENSP00000324127:p.Leu851Ser					PSD3_uc003wyx.4_Missense_Mutation_p.L180S|PSD3_uc003wyy.3_Missense_Mutation_p.L317S|PSD3_uc003wyz.3_Missense_Mutation_p.L152S	p.L851S	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	12	2655	-			852			PH.		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.2552T>C	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353661	0.82243	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	5.93	5.93	0.95920	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.40144	U	0.001163	D	0.87470	0.6185	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.998;1.0	D	0.88752	0.3251	10	0.87932	D	0	.	14.3464	0.66668	1.0:0.0:0.0:0.0	.	851;852;317;180	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	S	851;853;317;180;786	ENSP00000324127:L851S;ENSP00000401704:L853S;ENSP00000286485:L317S;ENSP00000393228:L180S;ENSP00000430640:L786S	ENSP00000286485:L317S	L	-	2	0	PSD3	18477005	1.000000	0.71417	0.891000	0.34965	0.724000	0.41520	9.271000	0.95698	2.281000	0.76405	0.533000	0.62120	TTG		0.428	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310	
LGI3	203190	broad.mit.edu	37	8	22006477	22006477	+	Silent	SNP	C	C	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:22006477C>A	ENST00000306317.2	-	8	1132	c.843G>T	c.(841-843)gtG>gtT	p.V281V	LGI3_ENST00000424267.2_Silent_p.V257V	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	281					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GCTTGCAGTGCACTGCAGAGG	0.627																																						uc003xav.3																			0				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(841-843)gtG>gtT		Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.							34.0	31.0	32.0					8																	22006477		2203	4300	6503	SO:0001819	synonymous_variant	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22006477C>A	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.843G>T	8.37:g.22006477C>A						LGI3_uc010ltu.3_Silent_p.V257V	p.V281V	NM_139278	NP_644807	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	7	1132	-			281					A5PLP2|Q86TL4|Q8N296	Silent	SNP	ENST00000306317.2	37	c.843G>T	CCDS6025.1																																																																																				0.627	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1		
SNAI2	6591	broad.mit.edu	37	8	49831516	49831516	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:49831516G>T	ENST00000396822.1	-	4	1014	c.657C>A	c.(655-657)aaC>aaA	p.N219K	SNAI2_ENST00000020945.1_Missense_Mutation_p.N219K			O43623	SNAI2_HUMAN	snail family zinc finger 2	219					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CAAATGCTCTGTTGCAGTGAG	0.433																																						uc003xqp.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18						c.(655-657)aaC>aaA		Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.							91.0	91.0	91.0					8																	49831516		2203	4300	6503	SO:0001583	missense	6591				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:49831516G>T	U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11094	protein-coding gene	gene with protein product		602150	"""slug homolog, zinc finger protein (chicken)"", ""snail homolog 2 (Drosophila)"""	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.657C>A	8.37:g.49831516G>T	ENSP00000380034:p.Asn219Lys						p.N219K	NM_003068	NP_003059	O43623	SNAI2_HUMAN			2	832	-		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	219					B2R6P6|Q53FC1	Missense_Mutation	SNP	ENST00000396822.1	37	c.657C>A	CCDS6146.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132012	0.37630	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.06449	3.3;3.3	5.22	4.34	0.51931	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.188741	0.53938	D	0.000041	T	0.05318	0.0141	N	0.16833	0.445	0.53005	D	0.999966	B	0.02656	0.0	B	0.08055	0.003	T	0.31558	-0.9939	10	0.66056	D	0.02	-14.8978	13.4335	0.61071	0.0755:0.0:0.9245:0.0	.	219	O43623	SNAI2_HUMAN	K	219	ENSP00000020945:N219K;ENSP00000380034:N219K	ENSP00000020945:N219K	N	-	3	2	SNAI2	49994069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.818000	0.55678	1.191000	0.43056	0.650000	0.86243	AAC		0.433	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068	
ZFHX4	79776	broad.mit.edu	37	8	77763369	77763369	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:77763369G>C	ENST00000521891.2	+	10	4660	c.4212G>C	c.(4210-4212)ttG>ttC	p.L1404F	ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1378F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1359F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1359F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATTGTAGCTTGGCTTTCAAAA	0.453										HNSCC(33;0.089)																												uc003yau.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(4210-4212)ttG>ttC		Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.							76.0	71.0	72.0					8																	77763369		1893	4120	6013	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763369G>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4212G>C	8.37:g.77763369G>C	ENSP00000430497:p.Leu1404Phe	HNSCC(33;0.089)				ZFHX4_uc003yaw.1_Missense_Mutation_p.L1359F	p.L1404F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		9	4599	+			1359					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4212G>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117516	0.37339	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.41	3.54	0.40534	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.35838	U	0.002956	T	0.56307	0.1976	M	0.82716	2.605	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.87578	0.996;0.998;0.998	T	0.61222	-0.7106	10	0.51188	T	0.08	.	12.5339	0.56131	0.0813:0.0:0.9187:0.0	.	1359;1359;1404	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	F	1404;1404;1359;1359;1378	ENSP00000430497:L1404F;ENSP00000399605:L1359F;ENSP00000050961:L1359F;ENSP00000430848:L1378F	ENSP00000050961:L1359F	L	+	3	2	ZFHX4	77925924	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.822000	0.55708	1.236000	0.43740	0.555000	0.69702	TTG		0.453	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
LRP12	29967	broad.mit.edu	37	8	105503293	105503293	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:105503293G>C	ENST00000276654.5	-	7	2296	c.2188C>G	c.(2188-2190)Ctc>Gtc	p.L730V	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.L711V	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	730					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATACGACTGAGTGCACTTGTA	0.493																																						uc003yma.3																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2188-2190)Ctc>Gtc		Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.							120.0	98.0	105.0					8																	105503293		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105503293G>C	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.2188C>G	8.37:g.105503293G>C	ENSP00000276654:p.Leu730Val					LRP12_uc003ymb.3_Missense_Mutation_p.L711V|LRP12_uc003ylz.3_Missense_Mutation_p.L136V	p.L730V	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	2315	-			730					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.2188C>G	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525463	0.44969	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000520873	D;D	0.88431	-2.38;-2.31	5.28	3.06	0.35304	.	0.000000	0.85682	D	0.000000	D	0.88400	0.6426	L	0.27053	0.805	0.53005	D	0.999965	D;D	0.67145	0.996;0.993	D;D	0.75484	0.986;0.967	D	0.85567	0.1231	10	0.32370	T	0.25	-14.8577	9.2056	0.37287	0.2774:0.0:0.7226:0.0	.	711;730	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	V	711;730;95	ENSP00000399148:L711V;ENSP00000276654:L730V	ENSP00000276654:L730V	L	-	1	0	LRP12	105572469	0.994000	0.37717	0.649000	0.29536	0.989000	0.77384	1.712000	0.37940	1.339000	0.45563	0.650000	0.86243	CTC		0.493	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437	
NFX1	4799	broad.mit.edu	37	9	33351731	33351731	+	Silent	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr9:33351731G>A	ENST00000379540.3	+	16	2660	c.2598G>A	c.(2596-2598)ccG>ccA	p.P866P	NFX1_ENST00000379521.4_Silent_p.P866P|Y_RNA_ENST00000363674.1_RNA	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	866					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GTGGTCACCCGTGTATGGCAC	0.552																																						uc003zsr.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(2599-2601)ccG>ccA		Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.							76.0	72.0	73.0					9																	33351731		2203	4300	6503	SO:0001819	synonymous_variant	4799				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33351731G>A	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.2598G>A	9.37:g.33351731G>A						NFX1_uc003zsp.2_Silent_p.P866P|NFX1_uc010mjr.2_Silent_p.P867P|NFX1_uc003zsq.3_Silent_p.P866P	p.P867P	NM_002504	NP_002495	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	15	2754	+			866					A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Silent	SNP	ENST00000379540.3	37	c.2601G>A	CCDS6538.1																																																																																				0.552	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1		
ANKRD20A1	84210	broad.mit.edu	37	9	67934791	67934794	+	Frame_Shift_Del	DEL	AAAG	AAAG	-	rs375030402|rs550666541	byFrequency	TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr9:67934791_67934794delAAAG	ENST00000377477.2	+	4	673_676	c.561_564delAAAG	c.(559-564)aaaaagfs	p.KK187fs	RNU6-368P_ENST00000391117.1_RNA	NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	187						plasma membrane (GO:0005886)				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						TTTTATTGAAAAAGAAAGCAAGTT	0.309														73	0.0145767	0.0	0.0086	5008	,	,		20736	0.003		0.0239	False		,,,				2504	0.0409					uc004aeu.3																			0											c.(559-564)aaaaagfs		Homo sapiens ankyrin repeat domain 20 family, member A3 (ANKRD20A3), mRNA.																																				SO:0001589	frameshift_variant	441425							g.chr9:67934791_67934794delAAAG	AL136793	CCDS6620.1	9p12	2014-04-16	2005-08-23	2005-08-23	ENSG00000196774	ENSG00000260691		"""Ankyrin repeat domain containing"""	23665	protein-coding gene	gene with protein product			"""ankyrin repeat domain 20A"""	ANKRD20A			Standard	NM_032250		Approved	DKFZp434A171		Q5TYW2	OTTHUMG00000188594	ENST00000377477.2:c.561_564delAAAG	9.37:g.67934795_67934798delAAAG	ENSP00000366697:p.Lys187fs					ANKRD20A3_uc010mnn.3_Frame_Shift_Del_p.K187fs	p.K187fs	NM_001012419	NP_115626	Q5VUR7	A20A3_HUMAN			3	673_676	+			187					Q9H0H6	Frame_Shift_Del	DEL	ENST00000377477.2	37	c.561_564delAAAG	CCDS6620.1																																																																																				0.309	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083800.1		
VPS13A	23230	broad.mit.edu	37	9	79867155	79867155	+	Silent	SNP	T	T	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr9:79867155T>C	ENST00000360280.3	+	22	2435	c.2175T>C	c.(2173-2175)gaT>gaC	p.D725D	VPS13A_ENST00000376636.3_Silent_p.D725D|VPS13A_ENST00000357409.5_Silent_p.D725D|VPS13A_ENST00000376634.4_Silent_p.D725D	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	725					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACTTAGGTGATAATTGGAGAG	0.343																																						uc004akr.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(2173-2175)gaT>gaC		Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.							162.0	154.0	157.0					9																	79867155		2203	4300	6503	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79867155T>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2175T>C	9.37:g.79867155T>C						VPS13A_uc004akp.4_Silent_p.D725D|VPS13A_uc004akq.4_Silent_p.D725D|VPS13A_uc004aks.3_Silent_p.D725D	p.D725D	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			21	2435	+			725					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.2175T>C	CCDS6655.1																																																																																				0.343	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
TMEM246	84302	broad.mit.edu	37	9	104239089	104239089	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr9:104239089C>A	ENST00000374851.1	-	4	1433	c.286G>T	c.(286-288)Gcc>Tcc	p.A96S	RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.A96S|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.A96S|RP11-490D19.6_ENST00000425734.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	96						integral component of membrane (GO:0016021)											CGGGGGGTGGCCTGCCAGACA	0.592																																						uc004bbm.3																			0											c.(286-288)Gcc>Tcc		Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.							45.0	44.0	44.0					9																	104239089		2203	4300	6503	SO:0001583	missense	84302					integral to membrane		g.chr9:104239089C>A	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.286G>T	9.37:g.104239089C>A	ENSP00000363984:p.Ala96Ser					AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Missense_Mutation_p.A96S	p.A96S	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN			1	608	-			96					Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	c.286G>T	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	c	3.383	-0.125852	0.06795	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.63	2.45	0.29901	.	0.513215	0.21458	N	0.074220	T	0.12347	0.0300	N	0.02011	-0.69	0.24345	N	0.994949	B	0.09022	0.002	B	0.06405	0.002	T	0.24476	-1.0159	9	0.07813	T	0.8	-12.7545	11.0848	0.48080	0.1273:0.5129:0.3599:0.0	.	96	Q9BRR3	CI125_HUMAN	S	96	.	ENSP00000363980:A96S	A	-	1	0	C9orf125	103278910	0.023000	0.18921	1.000000	0.80357	0.943000	0.58893	0.418000	0.21230	1.326000	0.45319	0.645000	0.84053	GCC		0.592	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342	
NUP214	8021	broad.mit.edu	37	9	134022964	134022964	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr9:134022964C>G	ENST00000359428.5	+	14	2177	c.2033C>G	c.(2032-2034)tCt>tGt	p.S678C	NUP214_ENST00000451030.1_Missense_Mutation_p.S679C|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.S668C			P35658	NU214_HUMAN	nucleoporin 214kDa	678	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AAGCCAGGCTCTCCCCAGGTA	0.433			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.3				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(2032-2034)tCt>tGt		Homo sapiens nucleoporin 214kDa (NUP214), mRNA.							96.0	101.0	100.0					9																	134022964		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134022964C>G	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.2033C>G	9.37:g.134022964C>G	ENSP00000352400:p.Ser678Cys					NUP214_uc004cah.3_Missense_Mutation_p.S668C|NUP214_uc004cai.3_Missense_Mutation_p.S108C|NUP214_uc004caf.1_Missense_Mutation_p.S667C|NUP214_uc010mzf.3_Intron	p.S678C	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	13	2144	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	678			11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.2033C>G	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779494	0.49891	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.34859	1.37;1.34;1.37	5.98	5.98	0.97165	.	0.192245	0.25872	N	0.027742	T	0.38983	0.1061	N	0.08118	0	0.21984	N	0.999434	D;D;D	0.71674	0.998;0.995;0.998	P;P;P	0.61592	0.891;0.847;0.891	T	0.42616	-0.9441	10	0.72032	D	0.01	-19.0568	17.1849	0.86863	0.0:1.0:0.0:0.0	.	272;668;678	Q5JUP9;P35658-4;P35658	.;.;NU214_HUMAN	C	678;668;679;667;272;107	ENSP00000352400:S678C;ENSP00000396576:S668C;ENSP00000405014:S679C	ENSP00000352400:S678C	S	+	2	0	NUP214	133012785	0.857000	0.29778	0.061000	0.19648	0.207000	0.24258	4.403000	0.59729	2.838000	0.97847	0.591000	0.81541	TCT		0.433	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085	
SSX1	6756	broad.mit.edu	37	X	48118025	48118025	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:48118025A>T	ENST00000376919.3	+	4	375	c.239A>T	c.(238-240)cAg>cTg	p.Q80L		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	80	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						ACAGACTTCCAGGGGAATGAT	0.448			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)	uc004djb.1				Dom	yes		X	Xp11.23-p11.22	6756	T	"""synovial sarcoma, X breakpoint 1"""			M	SS18		synovial sarcoma	SS18/SSX1(1169)|SS18L1/SSX1(2)	0				endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(238-240)cAg>cTg		Homo sapiens synovial sarcoma, X breakpoint 1 (SSX1), mRNA.							173.0	160.0	164.0					X																	48118025		2203	4299	6502	SO:0001583	missense	6756				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity	g.chrX:48118025A>T	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"""cancer/testis antigen family 5, member 1"""	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.239A>T	X.37:g.48118025A>T	ENSP00000366118:p.Gln80Leu						p.Q80L	NM_005635	NP_005626	Q16384	SSX1_HUMAN			3	330	+			80			KRAB-related.		A3KN76|Q08AJ2|Q5JQ64	Missense_Mutation	SNP	ENST00000376919.3	37	c.239A>T	CCDS14290.1	.	.	.	.	.	.	.	.	.	.	N	12.85	2.061252	0.36373	.	.	ENSG00000126752	ENST00000376919	T	0.08370	3.1	2.11	-3.27	0.05048	Krueppel-associated box (1);Krueppel-associated box-related (1);	2.879530	0.01119	N	0.005741	T	0.19685	0.0473	M	0.69823	2.125	0.09310	N	1	P	0.45126	0.851	P	0.58391	0.838	T	0.34079	-0.9843	10	0.72032	D	0.01	.	0.2208	0.00168	0.3382:0.2699:0.1726:0.2193	.	80	Q16384	SSX1_HUMAN	L	80	ENSP00000366118:Q80L	ENSP00000366118:Q80L	Q	+	2	0	SSX1	48002969	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.009000	0.03660	-0.845000	0.04179	0.305000	0.20034	CAG		0.448	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056485.1	NM_005635	
FOXP3	50943	broad.mit.edu	37	X	49113238	49113238	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:49113238T>A	ENST00000376207.4	-	6	804	c.617A>T	c.(616-618)aAg>aTg	p.K206M	FOXP3_ENST00000376197.1_Missense_Mutation_p.K156M|FOXP3_ENST00000518685.1_Missense_Mutation_p.K171M|FOXP3_ENST00000455775.2_Missense_Mutation_p.K206M|FOXP3_ENST00000557224.1_Missense_Mutation_p.K171M|FOXP3_ENST00000376199.2_Missense_Mutation_p.K171M	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	206					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					TTCGAAGACCTTCTCACATCC	0.617																																					GBM(182;1432 2112 16160 23073 31774)	uc004dnf.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(616-618)aAg>aTg		Homo sapiens forkhead box P3 (FOXP3), transcript variant 1, mRNA.							70.0	58.0	62.0					X																	49113238		2203	4300	6503	SO:0001583	missense	50943				B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding	g.chrX:49113238T>A		CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"""Forkhead boxes"""	6106	protein-coding gene	gene with protein product		300292	"""immune dysregulation, polyendocrinopathy, enteropathy, X-linked"""	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.617A>T	X.37:g.49113238T>A	ENSP00000365380:p.Lys206Met					FOXP3_uc011mnb.2_Missense_Mutation_p.K229M|FOXP3_uc011mnc.2_Missense_Mutation_p.K206M|FOXP3_uc004dne.4_Missense_Mutation_p.K171M|FOXP3_uc022bwa.1_Missense_Mutation_p.K156M	p.K206M	NM_014009	NP_054728	Q9BZS1	FOXP3_HUMAN			5	805	-	Ovarian(276;0.236)		206					A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Missense_Mutation	SNP	ENST00000376207.4	37	c.617A>T	CCDS14323.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.973262	0.34848	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.143381	0.47455	D	0.000224	D	0.88998	0.6590	L	0.52759	1.655	0.29260	N	0.871388	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.999;0.984;0.998;0.999	D	0.84572	0.0656	10	0.46703	T	0.11	.	10.7025	0.45934	0.0:0.0:0.0:1.0	.	206;229;171;206;171	B9UN80;B7ZLG1;Q9BZS1-3;Q9BZS1;Q9BZS1-2	.;.;.;FOXP3_HUMAN;.	M	206;171;171;171;156;206	ENSP00000365380:K206M;ENSP00000365372:K171M;ENSP00000451208:K171M;ENSP00000428952:K171M;ENSP00000365369:K156M;ENSP00000396415:K206M	ENSP00000365369:K156M	K	-	2	0	FOXP3	49000182	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	3.330000	0.52068	1.796000	0.52611	0.486000	0.48141	AAG		0.617	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060814.1	NM_014009	
HUWE1	10075	broad.mit.edu	37	X	53590731	53590731	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:53590731C>T	ENST00000342160.3	-	51	7538	c.7081G>A	c.(7081-7083)Gga>Aga	p.G2361R	HUWE1_ENST00000262854.6_Missense_Mutation_p.G2361R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2361	Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.G2224R(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTCCCAGATCCGCCATCCCTC	0.453																																						uc004dsp.3																			1	Substitution - Missense(1)	p.G2224R(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(7081-7083)Gga>Aga		Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.							181.0	126.0	145.0					X																	53590731		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53590731C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7081G>A	X.37:g.53590731C>T	ENSP00000340648:p.Gly2361Arg					HUWE1_uc004dsn.3_Missense_Mutation_p.G1185R	p.G2361R	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			51	7483	-			2361			Glu-rich.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.7081G>A	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.981|9.981	1.228259|1.228259	0.22542|0.22542	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.35236|.	1.32;1.32|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.125321|.	0.52532|.	D|.	0.000066|.	T|T	0.45955|0.45955	0.1368|0.1368	N|N	0.14661|0.14661	0.345|0.345	0.34873|0.34873	D|D	0.743825|0.743825	P;D|.	0.54397|.	0.902;0.966|.	B;B|.	0.41894|.	0.203;0.369|.	T|T	0.53837|0.53837	-0.8382|-0.8382	10|5	0.49607|.	T|.	0.09|.	.|.	17.9436|17.9436	0.89032|0.89032	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2361;2361|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	R|Q	2361|1394	ENSP00000340648:G2361R;ENSP00000262854:G2361R|.	ENSP00000262854:G2361R|.	G|R	-|-	1|2	0|0	HUWE1|HUWE1	53607456|53607456	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.089000|5.089000	0.64492|0.64492	2.513000|2.513000	0.84729|0.84729	0.600000|0.600000	0.82982|0.82982	GGA|CGG		0.453	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
AWAT2	158835	broad.mit.edu	37	X	69261810	69261810	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:69261810C>T	ENST00000276101.3	-	7	855	c.850G>A	c.(850-852)Ggg>Agg	p.G284R		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	284					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						AGAGGCTCCCCGACTGCCAGG	0.502																																					NSCLC(80;1334 1436 9350 24214 26427)	uc004dxt.1																			0				endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						c.(850-852)Ggg>Agg		Homo sapiens acyl-CoA wax alcohol acyltransferase 2 (AWAT2), mRNA.							100.0	78.0	86.0					X																	69261810		2203	4300	6503	SO:0001583	missense	158835					endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69261810C>T	BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"""multifunctional O-acyltransferase"""	300925	"""diacylglycerol O-acyltransferase 2-like 4"""	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.850G>A	X.37:g.69261810C>T	ENSP00000421172:p.Gly284Arg						p.G284R	NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN			6	856	-			284					Q6IEE3|Q6P437	Missense_Mutation	SNP	ENST00000276101.3	37	c.850G>A	CCDS35320.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943284	0.73672	.	.	ENSG00000147160	ENST00000276101	T	0.37752	1.18	4.18	3.24	0.37175	.	0.074338	0.56097	N	0.000029	T	0.64023	0.2561	H	0.96547	3.84	0.58432	D	0.999998	D	0.69078	0.997	P	0.59825	0.864	T	0.70769	-0.4782	10	0.87932	D	0	.	8.3263	0.32158	0.0:0.8643:0.0:0.1357	.	284	Q6E213	AWAT2_HUMAN	R	284	ENSP00000421172:G284R	ENSP00000421172:G284R	G	-	1	0	AWAT2	69178535	0.998000	0.40836	0.809000	0.32408	0.973000	0.67179	4.146000	0.58072	0.996000	0.38943	0.600000	0.82982	GGG		0.502	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358738.1	NM_001002254	
OTUD6A	139562	broad.mit.edu	37	X	69282974	69282974	+	Silent	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:69282974C>T	ENST00000338352.2	+	1	634	c.600C>T	c.(598-600)taC>taT	p.Y200Y		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	200	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CCTTCGGCTACGACGACTTCA	0.622																																						uc004dxu.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						c.(598-600)taC>taT		Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.							68.0	60.0	63.0					X																	69282974		2203	4300	6503	SO:0001819	synonymous_variant	139562							g.chrX:69282974C>T	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.600C>T	X.37:g.69282974C>T							p.Y200Y	NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN			0	634	+			200			OTU.		B2RPB7	Silent	SNP	ENST00000338352.2	37	c.600C>T	CCDS14395.1																																																																																				0.622	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320	
P2RY10	27334	broad.mit.edu	37	X	78216461	78216461	+	Silent	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:78216461C>T	ENST00000171757.2	+	4	724	c.444C>T	c.(442-444)taC>taT	p.Y148Y	P2RY10_ENST00000544091.1_Silent_p.Y148Y|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.Y148Y(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						AGCGTAGGTACGATGTGGGCA	0.498																																						uc022bzl.1																			1	Substitution - coding silent(1)	p.Y148Y(2)	central_nervous_system(1)	breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						c.(442-444)taC>taT		Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.							109.0	96.0	101.0					X																	78216461		2203	4300	6503	SO:0001819	synonymous_variant	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216461C>T	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.444C>T	X.37:g.78216461C>T						P2RY10_uc004ede.3_Silent_p.Y148Y|P2RY10_uc004edf.3_Silent_p.Y148Y	p.Y148Y	NM_198333	NP_938147	O00398	P2Y10_HUMAN			0	444	+			148					D3DTE5|Q4VBN7|Q86V16	Silent	SNP	ENST00000171757.2	37	c.444C>T	CCDS14442.1																																																																																				0.498	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1		
