#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LUZP2	338645	broad.mit.edu	37	11	25004673	25004673	+	Splice_Site	SNP	A	A	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr11:25004673A>T	ENST00000336930.6	+	9	665	c.599A>T	c.(598-600)gAg>gTg	p.E200V	LUZP2_ENST00000533227.1_Splice_Site_p.E114V			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	200						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTTTTGTAGGAGTCACAGATG	0.403																																						ENST00000533227.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.e9-1		leucine zipper protein 2							166.0	145.0	153.0					11																	25004673		2203	4300	6503	SO:0001630	splice_region_variant	338645					extracellular region		g.chr11:25004673A>T	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.598-1A>T	11.37:g.25004673A>T						LUZP2_ENST00000336930.6_Splice_Site_p.E200_splice	p.E114_splice	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN			9	628	+			200					A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Splice_Site	SNP	ENST00000336930.6	37	c.339_splice	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.730884	0.48939	.	.	ENSG00000187398	ENST00000336930;ENST00000529015;ENST00000533227	T;T;T	0.25414	1.8;1.8;1.8	5.53	4.4	0.53042	.	0.123889	0.51477	D	0.000087	T	0.26521	0.0648	L	0.32530	0.975	0.39577	D	0.969379	P;P	0.47302	0.893;0.825	P;P	0.47981	0.563;0.463	T	0.05257	-1.0896	10	0.87932	D	0	-8.2474	11.305	0.49329	0.8473:0.1527:0.0:0.0	.	114;200	E9PN53;Q86TE4	.;LUZP2_HUMAN	V	200;158;114	ENSP00000336817:E200V;ENSP00000437032:E158V;ENSP00000432952:E114V	ENSP00000336817:E200V	E	+	2	0	LUZP2	24961249	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	5.356000	0.66052	1.029000	0.39812	0.528000	0.53228	GAG		0.403	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909	Missense_Mutation	40	85	0	0	0	1	0	40	85				
BAHD1	22893	broad.mit.edu	37	15	40750818	40750818	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr15:40750818G>A	ENST00000416165.1	+	2	226	c.155G>A	c.(154-156)cGc>cAc	p.R52H	BAHD1_ENST00000561234.1_Missense_Mutation_p.R52H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R52H	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	52					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		ACAGGGCGCCGCAAGAATTAC	0.627																																						ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(154-156)cGc>cAc		bromo adjacent homology domain containing 1							77.0	72.0	74.0					15																	40750818		2203	4300	6503	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40750818G>A	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.155G>A	15.37:g.40750818G>A	ENSP00000396976:p.Arg52His					BAHD1_ENST00000560846.1_Missense_Mutation_p.R52H|BAHD1_ENST00000416165.1_Missense_Mutation_p.R52H	p.R52H			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	2	414	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	52					Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.155G>A	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490014	0.84962	.	.	ENSG00000140320	ENST00000416165	T	0.27256	1.68	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.36799	0.0980	N	0.14661	0.345	0.53688	D	0.999977	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.41574	-0.9501	10	0.87932	D	0	-21.6492	18.7829	0.91941	0.0:0.0:1.0:0.0	.	52;52;52	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	H	52	ENSP00000396976:R52H	ENSP00000396976:R52H	R	+	2	0	BAHD1	38538110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.173000	0.31920	2.668000	0.90789	0.655000	0.94253	CGC		0.627	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		23	52	0	0	0	1	0	23	52				
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	C	T	rs408579	byFrequency	TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr17:39274416C>T	ENST00000391413.2	-	1	190	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.R51K(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCCTGCAGCAGCT	0.672													t|||	242	0.0483227	0.1248	0.0202	5008	,	,		19066	0.005		0.0219	False		,,,				2504	0.0368					ENST00000391413.2																			1	Substitution - Missense(1)	p.R51K(1)	endometrium(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(151-153)aGg>aAg		keratin associated protein 4-11							9.0	15.0	13.0					17																	39274416		682	1579	2261	SO:0001583	missense	653240					keratin filament		g.chr17:39274416C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.152G>A	17.37:g.39274416C>T	ENSP00000375232:p.Arg51Lys						p.R51K	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	190	-		Breast(137;0.000496)	51		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.152G>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	4.205	0.036712	0.08148	.	.	ENSG00000212721	ENST00000391413	T	0.01455	4.87	3.47	-1.13	0.09775	.	2.855670	0.02563	U	0.096976	T	0.02610	0.0079	M	0.72118	2.19	0.09310	N	1	B	0.25441	0.126	B	0.28916	0.096	T	0.52283	-0.8596	10	0.05959	T	0.93	.	3.7627	0.08610	0.1684:0.4051:0.0:0.4265	rs408579	51	Q9BYQ6	KR411_HUMAN	K	51	ENSP00000375232:R51K	ENSP00000375232:R51K	R	-	2	0	KRTAP4-11	36527942	0.000000	0.05858	0.002000	0.10522	0.072000	0.16883	-0.738000	0.04871	-0.091000	0.12440	-0.208000	0.12717	AGG		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	33	0	0	0	1	0	3	33				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	94	0	0	0	1	0	4	94				
ZNF641	121274	broad.mit.edu	37	12	48741884	48741884	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr12:48741884G>C	ENST00000544117.2	-	2	740	c.32C>G	c.(31-33)tCt>tGt	p.S11C	ZNF641_ENST00000301042.3_Missense_Mutation_p.S11C|ZNF641_ENST00000448928.3_5'UTR|RP11-370I10.6_ENST00000548257.1_RNA|ZNF641_ENST00000547026.1_5'UTR			Q96N77	ZN641_HUMAN	zinc finger protein 641	11					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TTCTGCTGCAGACCCAAATTG	0.483																																						ENST00000544117.2																			0				breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						c.(31-33)tCt>tGt		zinc finger protein 641							89.0	77.0	81.0					12																	48741884		2203	4300	6503	SO:0001583	missense	121274				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr12:48741884G>C	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"""Zinc fingers, C2H2-type"", ""-"""	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.32C>G	12.37:g.48741884G>C	ENSP00000437832:p.Ser11Cys					ZNF641_ENST00000448928.3_5'UTR|ZNF641_ENST00000547026.1_5'UTR|ZNF641_ENST00000301042.3_Missense_Mutation_p.S11C	p.S11C			Q96N77	ZN641_HUMAN			2	740	-			11					B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Missense_Mutation	SNP	ENST00000544117.2	37	c.32C>G	CCDS8763.1	.	.	.	.	.	.	.	.	.	.	g	8.856	0.945656	0.18356	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000548932	T;T;T	0.12255	3.28;3.28;2.7	4.83	0.753	0.18404	.	1.132720	0.06650	N	0.762566	T	0.07234	0.0183	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39961	-0.9588	10	0.48119	T	0.1	.	0.7966	0.01067	0.3951:0.1709:0.1017:0.3322	.	11	Q96N77	ZN641_HUMAN	C	11	ENSP00000301042:S11C;ENSP00000437832:S11C;ENSP00000448810:S11C	ENSP00000301042:S11C	S	-	2	0	ZNF641	47028151	0.011000	0.17503	0.002000	0.10522	0.979000	0.70002	0.383000	0.20651	0.365000	0.24400	-0.482000	0.04802	TCT		0.483	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	NM_152320		13	38	0	0	0	1	0	13	38				
ABHD6	57406	broad.mit.edu	37	3	58270837	58270837	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr3:58270837G>T	ENST00000478253.1	+	8	1208	c.707G>T	c.(706-708)cGc>cTc	p.R236L	ABHD6_ENST00000295962.4_Missense_Mutation_p.R236L			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	236					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)	p.R236H(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		GTCGATGTCCGCATCCCTCAT	0.443																																						ENST00000478253.1																			1	Substitution - Missense(1)	p.R236H(1)	kidney(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16						c.(706-708)cGc>cTc		abhydrolase domain containing 6							137.0	117.0	124.0					3																	58270837		2203	4300	6503	SO:0001583	missense	57406					integral to membrane	acylglycerol lipase activity	g.chr3:58270837G>T	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.707G>T	3.37:g.58270837G>T	ENSP00000420315:p.Arg236Leu					ABHD6_ENST00000295962.4_Missense_Mutation_p.R236L	p.R236L			Q9BV23	ABHD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)	8	1208	+			236					B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	c.707G>T	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086104	0.94100	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761	T;T	0.74526	-0.85;-0.85	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.85725	0.5763	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.74674	0.984;0.942	T	0.82673	-0.0341	10	0.27785	T	0.31	-11.2637	19.3704	0.94481	0.0:0.0:1.0:0.0	.	236;236	Q9BV23;F5H7L1	ABHD6_HUMAN;.	L	236	ENSP00000420315:R236L;ENSP00000295962:R236L	ENSP00000295962:R236L	R	+	2	0	ABHD6	58245877	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.134000	0.89606	2.666000	0.90696	0.655000	0.94253	CGC		0.443	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		4	120	1	0	0.150653	1	0.153496	4	120				
DTX2	113878	broad.mit.edu	37	7	76134727	76134727	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr7:76134727C>T	ENST00000324432.5	+	12	2188	c.1678C>T	c.(1678-1680)Ctc>Ttc	p.L560F	DTX2_ENST00000430490.2_Missense_Mutation_p.L560F|DTX2_ENST00000446820.2_Missense_Mutation_p.L513F|DTX2_ENST00000446600.1_Missense_Mutation_p.L469F|DTX2_ENST00000307569.8_Missense_Mutation_p.L513F|DTX2_ENST00000413936.2_Missense_Mutation_p.L560F	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	560					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GAAGAGGCGGCTCATCTTCAC	0.622																																						ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(1678-1680)Ctc>Ttc		deltex homolog 2 (Drosophila)							77.0	56.0	63.0					7																	76134727		2200	4294	6494	SO:0001583	missense	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76134727C>T		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.1678C>T	7.37:g.76134727C>T	ENSP00000322885:p.Leu560Phe					DTX2_ENST00000446600.1_Missense_Mutation_p.L469F|DTX2_ENST00000430490.2_Missense_Mutation_p.L560F|DTX2_ENST00000446820.2_Missense_Mutation_p.L513F|DTX2_ENST00000307569.8_Missense_Mutation_p.L513F|DTX2_ENST00000413936.2_Missense_Mutation_p.L560F	p.L560F	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			12	2188	+			560					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	c.1678C>T	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	22.7	4.319736	0.81469	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.12	5.12	0.69794	.	0.068491	0.64402	D	0.000020	D	0.84211	0.5422	H	0.95470	3.675	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;0.996;0.999;0.999	D	0.87966	0.2733	10	0.72032	D	0.01	-30.0337	13.1356	0.59407	0.0:0.9203:0.0:0.0797	.	469;191;513;560	F5GX89;Q6P2H0;Q86UW9-2;Q86UW9	.;.;.;DTX2_HUMAN	F	560;513;469;469;560;560;513	ENSP00000322885:L560F;ENSP00000305242:L513F;ENSP00000397648:L469F;ENSP00000390218:L560F;ENSP00000411986:L560F;ENSP00000392545:L513F	ENSP00000305242:L513F	L	+	1	0	AC005522.1	75972663	1.000000	0.71417	0.904000	0.35570	0.743000	0.42351	4.780000	0.62382	2.663000	0.90544	0.651000	0.88453	CTC		0.622	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			5	4	0	0	0	1	0	5	4				
C7orf43	55262	broad.mit.edu	37	7	99754500	99754500	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr7:99754500C>G	ENST00000316937.3	-	6	1146	c.961G>C	c.(961-963)Ggg>Cgg	p.G321R	C7orf43_ENST00000394035.2_5'Flank|C7orf43_ENST00000457641.1_Missense_Mutation_p.G52R|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000419841.1_Missense_Mutation_p.G89R	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	321										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCTCACCCCCTCTCAGCTGA	0.602																																						ENST00000316937.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10						c.(961-963)Ggg>Cgg		chromosome 7 open reading frame 43							58.0	67.0	64.0					7																	99754500		2202	4300	6502	SO:0001583	missense	55262							g.chr7:99754500C>G		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.961G>C	7.37:g.99754500C>G	ENSP00000324741:p.Gly321Arg					C7orf43_ENST00000457641.1_Missense_Mutation_p.G52R|C7orf43_ENST00000419841.1_Missense_Mutation_p.G89R|C7orf43_ENST00000498638.1_5'UTR	p.G321R	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN			6	1146	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		321					A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Missense_Mutation	SNP	ENST00000316937.3	37	c.961G>C	CCDS5687.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.14|13.14	2.148383|2.148383	0.37923|0.37923	.|.	.|.	ENSG00000146826|ENSG00000146826	ENST00000457641;ENST00000316937;ENST00000419841|ENST00000456769	T;T;T|T	0.32272|0.33216	1.46;1.46;1.46|1.42	5.43|5.43	4.52|4.52	0.55395|0.55395	.|.	0.673781|.	0.14479|.	N|.	0.317068|.	T|T	0.18173|0.18173	0.0436|0.0436	N|N	0.08118|0.08118	0|0	0.28330|0.28330	N|N	0.921831|0.921831	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.10450|.	0.0;0.005|.	T|T	0.17745|0.17745	-1.0359|-1.0359	10|7	0.44086|0.21540	T|T	0.13|0.41	-4.1202|-4.1202	11.9551|11.9551	0.52976|0.52976	0.0:0.8249:0.1751:0.0|0.0:0.8249:0.1751:0.0	.|.	89;321|.	E9PFF9;Q8WVR3|.	.;CG043_HUMAN|.	R|T	52;321;89|226	ENSP00000396432:G52R;ENSP00000324741:G321R;ENSP00000406326:G89R|ENSP00000389672:R226T	ENSP00000324741:G321R|ENSP00000389672:R226T	G|R	-|-	1|2	0|0	C7orf43|C7orf43	99592436|99592436	0.980000|0.980000	0.34600|0.34600	0.997000|0.997000	0.53966|0.53966	0.893000|0.893000	0.52053|0.52053	3.716000|3.716000	0.54904|0.54904	1.243000|1.243000	0.43853|0.43853	0.462000|0.462000	0.41574|0.41574	GGG|AGG		0.602	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	NM_018275		77	78	0	0	0	1	0	77	78				
PTRF	284119	broad.mit.edu	37	17	40557272	40557272	+	Silent	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr17:40557272C>T	ENST00000357037.5	-	2	1025	c.606G>A	c.(604-606)tcG>tcA	p.S202S		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CCTCGTCCGACGAAAGCTCCA	0.667																																						ENST00000357037.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(604-606)tcG>tcA		polymerase I and transcript release factor							83.0	88.0	87.0					17																	40557272		2203	4300	6503	SO:0001819	synonymous_variant	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40557272C>T	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.606G>A	17.37:g.40557272C>T							p.S202S	NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	1025	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	202						Silent	SNP	ENST00000357037.5	37	c.606G>A	CCDS11425.1																																																																																				0.667	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		8	108	0	0	0	1	0	8	108				
ACHE	43	broad.mit.edu	37	7	100490251	100490251	+	Silent	SNP	G	G	A	rs199872491		TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr7:100490251G>A	ENST00000412389.1	-	2	1412	c.1257C>T	c.(1255-1257)ccC>ccT	p.P419P	ACHE_ENST00000302913.4_Silent_p.P419P|ACHE_ENST00000419336.2_Intron|UFSP1_ENST00000388761.2_5'Flank|ACHE_ENST00000411582.1_Silent_p.P419P|ACHE_ENST00000428317.1_Silent_p.P419P|ACHE_ENST00000241069.5_Silent_p.P419P			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	419					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	CCGGGTCCTCGGGATGCAGCC	0.701																																						ENST00000302913.4																			0				large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16						c.(1255-1257)ccC>ccT		acetylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						23.0	25.0	24.0					7																	100490251		2203	4299	6502	SO:0001819	synonymous_variant	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100490251G>A		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1257C>T	7.37:g.100490251G>A						ACHE_ENST00000428317.1_Silent_p.P419P|ACHE_ENST00000411582.1_Silent_p.P419P|ACHE_ENST00000412389.1_Silent_p.P419P|ACHE_ENST00000241069.5_Silent_p.P419P|ACHE_ENST00000419336.2_Intron	p.P419P	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN			3	1395	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		419					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Silent	SNP	ENST00000412389.1	37	c.1257C>T	CCDS5709.1																																																																																				0.701	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		13	25	0	0	0	1	0	13	25				
SERPINA1	5265	broad.mit.edu	37	14	94849095	94849095	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr14:94849095C>A	ENST00000448921.1	-	4	1052	c.480G>T	c.(478-480)aaG>aaT	p.K160N	SERPINA1_ENST00000404814.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000449399.3_Missense_Mutation_p.K160N|SERPINA1_ENST00000355814.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000393087.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000393088.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000402629.1_Missense_Mutation_p.K160N|SERPINA1_ENST00000440909.1_Missense_Mutation_p.K160N|SERPINA1_ENST00000437397.1_Missense_Mutation_p.K160N	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	160					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AGTGGTACAACTTTTTAACAT	0.507																																						ENST00000448921.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24						c.(478-480)aaG>aaT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	Alpha-1-proteinase inhibitor(DB00058)						109.0	109.0	109.0					14																	94849095		2203	4300	6503	SO:0001583	missense	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94849095C>A	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.480G>T	14.37:g.94849095C>A	ENSP00000416066:p.Lys160Asn					SERPINA1_ENST00000393088.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000393087.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000437397.1_Missense_Mutation_p.K160N|SERPINA1_ENST00000404814.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000449399.3_Missense_Mutation_p.K160N|SERPINA1_ENST00000402629.1_Missense_Mutation_p.K160N|SERPINA1_ENST00000355814.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000440909.1_Missense_Mutation_p.K160N	p.K160N	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	4	1052	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	160					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	37	c.480G>T	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.440500	0.01098	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629;ENST00000554720	D;D;D;D;D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.94	-10.9	0.00192	Serpin domain (3);	1.015660	0.07862	N	0.966549	T	0.58075	0.2097	N	0.16098	0.37	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.52403	-0.8580	10	0.02654	T	1	.	2.9011	0.05706	0.167:0.2598:0.3549:0.2183	.	160;160	P01009-2;P01009	.;A1AT_HUMAN	N	160;160;160;160;160;160;160;160;160;74	ENSP00000390299:K160N;ENSP00000416066:K160N;ENSP00000408474:K160N;ENSP00000348068:K160N;ENSP00000376802:K160N;ENSP00000376803:K160N;ENSP00000385960:K160N;ENSP00000416354:K160N;ENSP00000386094:K160N;ENSP00000450561:K74N	ENSP00000348068:K160N	K	-	3	2	SERPINA1	93918848	0.000000	0.05858	0.000000	0.03702	0.379000	0.30106	-8.586000	0.00019	-2.181000	0.00765	-1.365000	0.01206	AAG		0.507	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		8	95	1	0	0.27861	1	0.27861	8	95				
KMT2C	58508	broad.mit.edu	37	7	151846165	151846165	+	Missense_Mutation	SNP	T	T	G			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr7:151846165T>G	ENST00000262189.6	-	52	13065	c.12847A>C	c.(12847-12849)Aac>Cac	p.N4283H	KMT2C_ENST00000355193.2_Missense_Mutation_p.N4340H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4283					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GTGGAGATGTTGTTGCTGTAC	0.498																																						ENST00000355193.2																			0											c.(13018-13020)Aac>Cac		lysine (K)-specific methyltransferase 2C							68.0	63.0	65.0					7																	151846165		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151846165T>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12847A>C	7.37:g.151846165T>G	ENSP00000262189:p.Asn4283His					KMT2C_ENST00000262189.6_Missense_Mutation_p.N4283H	p.N4340H							53	13236	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.13018A>C	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.50|16.50	3.139369|3.139369	0.56936|0.56936	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	D;D;D|.	0.90444|.	-2.13;-2.07;-2.67|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.000000|.	0.48767|.	U|.	0.000178|.	T|T	0.75874|0.75874	0.3909|0.3909	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.91635|.	0.997;0.999;0.999|.	T|T	0.77094|0.77094	-0.2715|-0.2715	10|5	0.66056|.	D|.	0.02|.	.|.	15.6559|15.6559	0.77133|0.77133	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	4283;3401;4340|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	H|P	4283;4340;900|1843	ENSP00000262189:N4283H;ENSP00000347325:N4340H;ENSP00000410411:N900H|.	ENSP00000262189:N4283H|.	N|Q	-|-	1|2	0|0	MLL3|MLL3	151477098|151477098	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.698000|7.698000	0.84413|0.84413	2.097000|2.097000	0.63578|0.63578	0.533000|0.533000	0.62120|0.62120	AAC|CAA		0.498	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			15	40	0	0	0	1	0	15	40				
B3GNT7	93010	broad.mit.edu	37	2	232263298	232263298	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr2:232263298G>A	ENST00000287590.5	+	2	1129	c.868G>A	c.(868-870)Ggc>Agc	p.G290S		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	290					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GGCCCTGTACGGCAAGGCCAG	0.652																																						ENST00000287590.5																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(868-870)Ggc>Agc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7							26.0	32.0	30.0					2																	232263298		1980	4135	6115	SO:0001583	missense	93010				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr2:232263298G>A	AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"""Beta 3-glycosyltransferases"""	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.868G>A	2.37:g.232263298G>A	ENSP00000287590:p.Gly290Ser						p.G290S	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	2	1129	+		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	290					B3KWY4|B7WNP0	Missense_Mutation	SNP	ENST00000287590.5	37	c.868G>A	CCDS46540.1	.	.	.	.	.	.	.	.	.	.	A	3.852	-0.031659	0.07543	.	.	ENSG00000156966	ENST00000287590	T	0.39997	1.05	5.05	-2.02	0.07388	.	0.375457	0.32719	N	0.005731	T	0.11665	0.0284	N	0.02315	-0.6	0.21184	N	0.999762	B	0.06786	0.001	B	0.08055	0.003	T	0.31613	-0.9937	10	0.02654	T	1	.	6.8968	0.24260	0.5319:0.1189:0.3492:0.0	.	290	Q8NFL0	B3GN7_HUMAN	S	290	ENSP00000287590:G290S	ENSP00000287590:G290S	G	+	1	0	B3GNT7	231971542	1.000000	0.71417	0.434000	0.26772	0.186000	0.23388	1.457000	0.35212	-0.642000	0.05480	-0.361000	0.07541	GGC		0.652	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	NM_145236		6	28	0	0	0	1	0	6	28				
PAQR4	124222	broad.mit.edu	37	16	3021258	3021258	+	Silent	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr16:3021258C>T	ENST00000318782.8	+	2	697	c.267C>T	c.(265-267)tgC>tgT	p.C89C	PAQR4_ENST00000293978.8_Intron|PAQR4_ENST00000572687.1_Intron|PAQR4_ENST00000576565.1_Silent_p.C22C|PAQR4_ENST00000574988.1_Silent_p.C22C|PKMYT1_ENST00000571102.1_5'Flank|PKMYT1_ENST00000431515.2_Intron	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	89						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						GCGTGGCCTGCCTTGCACCCC	0.662																																						ENST00000318782.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(265-267)tgC>tgT		progestin and adipoQ receptor family member IV							57.0	56.0	56.0					16																	3021258		2198	4299	6497	SO:0001819	synonymous_variant	124222					integral to membrane	receptor activity	g.chr16:3021258C>T		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.267C>T	16.37:g.3021258C>T						PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Intron|PAQR4_ENST00000574988.1_Silent_p.C22C|PAQR4_ENST00000576565.1_Silent_p.C22C|PAQR4_ENST00000572687.1_Intron	p.C89C	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN			2	697	+			89					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Silent	SNP	ENST00000318782.8	37	c.267C>T	CCDS10485.1																																																																																				0.662	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		6	41	0	0	0	1	0	6	41				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	46	0	0	0	1	0	4	46				
OBSCN	84033	broad.mit.edu	37	1	228494135	228494135	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr1:228494135A>C	ENST00000422127.1	+	44	11766	c.11722A>C	c.(11722-11724)Acc>Ccc	p.T3908P	OBSCN_ENST00000366707.4_Missense_Mutation_p.T1542P|OBSCN_ENST00000284548.11_Missense_Mutation_p.T3908P|OBSCN_ENST00000570156.2_Missense_Mutation_p.T4865P|OBSCN_ENST00000366709.4_Missense_Mutation_p.T1027P	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3908	Ig-like 40.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTCCACGGCCACCCTGCAGTG	0.682																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(14593-14595)Acc>Ccc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							14.0	17.0	16.0					1																	228494135		1928	4094	6022	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228494135A>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11722A>C	1.37:g.228494135A>C	ENSP00000409493:p.Thr3908Pro					OBSCN_ENST00000284548.11_Missense_Mutation_p.T3908P|OBSCN_ENST00000422127.1_Missense_Mutation_p.T3908P|OBSCN_ENST00000366709.4_Missense_Mutation_p.T1027P|OBSCN_ENST00000366707.4_Missense_Mutation_p.T1542P	p.T4865P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			55	14667	+		Prostate(94;0.0405)	3908					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.14593A>C	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.004232	0.35320	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.05855	3.38;3.38;3.38;3.38	4.76	-1.09	0.09904	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.660230	0.03002	N	0.148364	T	0.24967	0.0606	M	0.91510	3.215	0.19775	N	0.999956	D;D	0.60160	0.987;0.957	P;P	0.61592	0.891;0.826	T	0.16660	-1.0395	10	0.49607	T	0.09	.	2.2918	0.04140	0.4947:0.1272:0.073:0.3051	.	3908;3908	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	P	3908;3908;1542;1027	ENSP00000284548:T3908P;ENSP00000409493:T3908P;ENSP00000355668:T1542P;ENSP00000355670:T1027P	ENSP00000284548:T3908P	T	+	1	0	OBSCN	226560758	0.000000	0.05858	0.008000	0.14137	0.011000	0.07611	-0.122000	0.10627	-0.376000	0.07943	-0.695000	0.03696	ACC		0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		8	20	0	0	0	1	0	8	20				
TTF1	7270	broad.mit.edu	37	9	135277515	135277515	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr9:135277515C>T	ENST00000334270.2	-	2	733	c.694G>A	c.(694-696)Gag>Aag	p.E232K		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	232					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GCCAGTGTCTCATATTCCCGG	0.483																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(694-696)Gag>Aag		transcription termination factor, RNA polymerase I							41.0	42.0	42.0					9																	135277515		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277515C>T	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.694G>A	9.37:g.135277515C>T	ENSP00000333920:p.Glu232Lys						p.E232K	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	733	-		Myeloproliferative disorder(178;0.204)	232					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.694G>A	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	C	9.494	1.101360	0.20632	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.13089	2.62	2.03	2.03	0.26663	.	.	.	.	.	T	0.06690	0.0171	N	0.22421	0.69	0.09310	N	1	P	0.41524	0.753	B	0.26864	0.074	T	0.27468	-1.0073	9	0.45353	T	0.12	.	7.4289	0.27115	0.0:1.0:0.0:0.0	.	232	Q15361	TTF1_HUMAN	K	232	ENSP00000333920:E232K	ENSP00000245588:E232K	E	-	1	0	TTF1	134267336	0.030000	0.19436	0.001000	0.08648	0.001000	0.01503	0.962000	0.29280	1.090000	0.41315	0.467000	0.42956	GAG		0.483	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		21	37	0	0	0	1	0	21	37				
BARD1	580	broad.mit.edu	37	2	215617196	215617196	+	Missense_Mutation	SNP	G	G	A	rs587781707		TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr2:215617196G>A	ENST00000260947.4	-	7	1786	c.1652C>T	c.(1651-1653)tCa>tTa	p.S551L	BARD1_ENST00000449967.2_Missense_Mutation_p.S407L	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	551					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCTGAGGATGATTCATTCTT	0.338									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(1651-1653)tCa>tTa		BRCA1 associated RING domain 1							104.0	100.0	102.0					2																	215617196		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215617196G>A		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1652C>T	2.37:g.215617196G>A	ENSP00000260947:p.Ser551Leu					BARD1_ENST00000449967.2_Missense_Mutation_p.S407L	p.S551L	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	7	1786	-		Renal(323;0.0243)	551					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.1652C>T	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.391718	0.25118	.	.	ENSG00000138376	ENST00000260947;ENST00000449967;ENST00000421162	T;T;D	0.85773	-0.86;-0.22;-2.03	4.44	3.53	0.40419	.	1.109350	0.06822	N	0.792369	T	0.80565	0.4647	L	0.38531	1.155	0.36134	D	0.846331	B;B	0.25521	0.128;0.039	B;B	0.25614	0.062;0.024	T	0.72308	-0.4332	10	0.40728	T	0.16	-1.2644	11.8954	0.52654	0.0871:0.0:0.9129:0.0	.	407;551	E7EUI3;Q99728	.;BARD1_HUMAN	L	551;407;100	ENSP00000260947:S551L;ENSP00000406752:S407L;ENSP00000392245:S100L	ENSP00000260947:S551L	S	-	2	0	BARD1	215325441	1.000000	0.71417	0.987000	0.45799	0.245000	0.25701	1.948000	0.40303	2.306000	0.77630	0.460000	0.39030	TCA		0.338	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		46	70	0	0	0	1	0	46	70				
ISM1	140862	broad.mit.edu	37	20	13251264	13251264	+	Silent	SNP	G	G	A	rs376195260		TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr20:13251264G>A	ENST00000262487.4	+	2	258	c.252G>A	c.(250-252)ccG>ccA	p.P84P	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	84						extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TCCCCAGACCGCGATTCCGAC	0.507																																						ENST00000262487.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.(250-252)ccG>ccA		isthmin 1, angiogenesis inhibitor		G		0,3918		0,0,1959	89.0	87.0	88.0		252	0.8	1.0	20		88	2,8278		0,2,4138	no	coding-synonymous	ISM1	NM_080826.1		0,2,6097	AA,AG,GG		0.0242,0.0,0.0164		84/465	13251264	2,12196	1959	4140	6099	SO:0001819	synonymous_variant	140862					extracellular region		g.chr20:13251264G>A	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.252G>A	20.37:g.13251264G>A						TASP1_ENST00000539805.1_Intron	p.P84P	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN			2	258	+			84					Q8WVH9	Silent	SNP	ENST00000262487.4	37	c.252G>A	CCDS46579.1																																																																																				0.507	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			4	16	0	0	0	1	0	4	16				
AVEN	57099	broad.mit.edu	37	15	34295292	34295292	+	Missense_Mutation	SNP	T	T	C	rs370441123		TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr15:34295292T>C	ENST00000306730.3	-	2	515	c.386A>G	c.(385-387)aAt>aGt	p.N129S	CHRM5_ENST00000383263.5_Intron	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	129					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	intracellular (GO:0005622)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		ACTTTCATTATTGACCTCTTT	0.398																																						ENST00000306730.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7						c.(385-387)aAt>aGt		apoptosis, caspase activation inhibitor		T	,SER/ASN	0,4402		0,0,2201	181.0	153.0	162.0		,386	4.7	0.8	15		162	1,8595	1.2+/-3.3	0,1,4297	no	intron,missense	CHRM5,AVEN	NM_012125.3,NM_020371.2	,46	0,1,6498	CC,CT,TT		0.0116,0.0,0.0077	,benign	,129/363	34295292	1,12997	2201	4298	6499	SO:0001583	missense	57099				anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding	g.chr15:34295292T>C	AF283508	CCDS10030.1	15q13.1	2011-10-19		2008-07-07	ENSG00000169857	ENSG00000169857			13509	protein-coding gene	gene with protein product	"""cell death regulator aven"", ""programmed cell death 12"""	605265				10949025	Standard	XM_005254563		Approved	PDCD12	uc001zhj.3	Q9NQS1	OTTHUMG00000129371	ENST00000306730.3:c.386A>G	15.37:g.34295292T>C	ENSP00000306822:p.Asn129Ser					CHRM5_ENST00000383263.5_Intron	p.N129S	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)	2	515	-		all_lung(180;1.78e-08)	129						Missense_Mutation	SNP	ENST00000306730.3	37	c.386A>G	CCDS10030.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.197450	0.38806	0.0	1.16E-4	ENSG00000169857	ENST00000306730	T	0.40756	1.02	4.71	4.71	0.59529	.	0.641703	0.15954	N	0.236619	T	0.29976	0.0750	N	0.22421	0.69	0.80722	D	1	B	0.27732	0.187	B	0.28011	0.085	T	0.07028	-1.0794	10	0.17832	T	0.49	-2.7263	13.9993	0.64424	0.0:0.0:0.0:1.0	.	129	Q9NQS1	AVEN_HUMAN	S	129	ENSP00000306822:N129S	ENSP00000306822:N129S	N	-	2	0	AVEN	32082584	0.701000	0.27806	0.816000	0.32577	0.978000	0.69477	1.761000	0.38440	1.978000	0.57642	0.482000	0.46254	AAT		0.398	AVEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251523.2	NM_020371		24	49	0	0	0	1	0	24	49				
MUC2	4583	broad.mit.edu	37	11	1078359	1078359	+	Missense_Mutation	SNP	G	G	A	rs534651955	byFrequency	TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr11:1078359G>A	ENST00000441003.2	+	5	673	c.646G>A	c.(646-648)Gca>Aca	p.A216T	MUC2_ENST00000359061.5_Missense_Mutation_p.A216T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	216	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGTGGCCCCCGCATCCTGCTC	0.647													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15104	0.0		0.0	False		,,,				2504	0.0					ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(646-648)Gca>Aca		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						64.0	77.0	73.0					11																	1078359		2070	4179	6249	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1078359G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.646G>A	11.37:g.1078359G>A	ENSP00000415183:p.Ala216Thr					MUC2_ENST00000359061.5_Missense_Mutation_p.A216T	p.A216T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	673	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	216			VWFD 1.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.646G>A		.	.	.	.	.	.	.	.	.	.	G	8.412	0.844288	0.16963	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.13538	2.64;2.58	4.08	-0.0641	0.13774	.	2.616420	0.01835	N	0.034921	T	0.04998	0.0134	N	0.01576	-0.805	0.09310	N	1	B	0.26876	0.162	B	0.24848	0.056	T	0.29912	-0.9996	10	0.14252	T	0.57	.	5.8219	0.18532	0.3598:0.1791:0.4611:0.0	.	216	E7EUV1	.	T	216	ENSP00000415183:A216T;ENSP00000351956:A216T	ENSP00000351956:A216T	A	+	1	0	MUC2	1068359	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.251000	0.02882	0.213000	0.20722	-0.258000	0.10820	GCA		0.647	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		3	30	0	0	0	1	0	3	30				
FAM208B	54906	broad.mit.edu	37	10	5765643	5765643	+	Silent	SNP	G	G	T	rs375654540		TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr10:5765643G>T	ENST00000328090.5	+	7	775	c.150G>T	c.(148-150)ccG>ccT	p.P50P	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	50																	TTTTCAGACCGCAGGAACTAG	0.313																																						ENST00000328090.5																			0											c.(148-150)ccG>ccT		family with sequence similarity 208, member B							102.0	98.0	99.0					10																	5765643		1805	4075	5880	SO:0001819	synonymous_variant	54906							g.chr10:5765643G>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.150G>T	10.37:g.5765643G>T						RP11-336A10.2_ENST00000411512.2_RNA	p.P50P	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			7	775	+			50					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.150G>T	CCDS41485.1																																																																																				0.313	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		14	49	1	0	3.45872e-05	1	3.73541e-05	14	49				
PROKR2	128674	broad.mit.edu	37	20	5283201	5283201	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr20:5283201C>T	ENST00000217270.3	-	2	639	c.640G>A	c.(640-642)Gtg>Atg	p.V214M	PROKR2_ENST00000546004.1_Missense_Mutation_p.V214M	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	214					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TGCTGATCCACAGGCCAGATC	0.512										HNSCC(71;0.22)																												ENST00000546004.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(640-642)Gtg>Atg		prokineticin receptor 2							143.0	133.0	136.0					20																	5283201		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5283201C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.640G>A	20.37:g.5283201C>T	ENSP00000217270:p.Val214Met	HNSCC(71;0.22)				PROKR2_ENST00000217270.3_Missense_Mutation_p.V214M	p.V214M			Q8NFJ6	PKR2_HUMAN			3	886	-			214					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.640G>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352949	0.82132	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.37584	1.19;1.19	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55847	0.1946	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.54990	-0.8210	10	0.52906	T	0.07	.	16.4673	0.84083	0.0:1.0:0.0:0.0	.	214	Q8NFJ6	PKR2_HUMAN	M	214	ENSP00000440790:V214M;ENSP00000217270:V214M	ENSP00000217270:V214M	V	-	1	0	PROKR2	5231201	1.000000	0.71417	0.955000	0.39395	0.991000	0.79684	4.569000	0.60865	2.499000	0.84300	0.655000	0.94253	GTG		0.512	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		28	56	0	0	0	1	0	28	56				
KLHL22	84861	broad.mit.edu	37	22	20800756	20800756	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr22:20800756C>T	ENST00000328879.4	-	6	1669	c.1513G>A	c.(1513-1515)Gcc>Acc	p.A505T	KLHL22_ENST00000440659.2_Missense_Mutation_p.A362T	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	505					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CTGTATCCGGCATCGTTGTTG	0.592																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1513-1515)Gcc>Acc		kelch-like family member 22							75.0	63.0	67.0					22																	20800756		2203	4300	6503	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20800756C>T		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1513G>A	22.37:g.20800756C>T	ENSP00000331682:p.Ala505Thr					KLHL22_ENST00000440659.2_Missense_Mutation_p.A362T	p.A505T	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		6	1669	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	505					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.1513G>A	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	C	4.111	0.018643	0.07959	.	.	ENSG00000099910	ENST00000328879;ENST00000440659	T;T	0.65732	-0.17;-0.17	5.43	4.34	0.51931	Kelch-type beta propeller (1);	0.590677	0.18530	N	0.138540	T	0.40839	0.1133	N	0.12831	0.26	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.05402	-1.0887	10	0.07325	T	0.83	.	14.4854	0.67614	0.157:0.843:0.0:0.0	.	505	Q53GT1	KLH22_HUMAN	T	505;362	ENSP00000331682:A505T;ENSP00000405521:A362T	ENSP00000331682:A505T	A	-	1	0	KLHL22	19130756	0.108000	0.22018	0.418000	0.26571	0.958000	0.62258	1.265000	0.33027	2.571000	0.86741	0.563000	0.77884	GCC		0.592	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		11	14	0	0	0	1	0	11	14				
ALYREF	10189	broad.mit.edu	37	17	79847127	79847127	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr17:79847127C>T	ENST00000331204.4	-	3	474	c.448G>A	c.(448-450)Gac>Aac	p.D150N	ANAPC11_ENST00000574924.2_5'Flank|ANAPC11_ENST00000571024.2_5'Flank|ANAPC11_ENST00000579978.1_5'Flank|ANAPC11_ENST00000392376.3_5'Flank|ALYREF_ENST00000512673.1_5'UTR|ANAPC11_ENST00000578550.1_5'Flank|ANAPC11_ENST00000344877.5_5'Flank|ANAPC11_ENST00000571570.1_5'Flank|ANAPC11_ENST00000583839.1_5'Flank|ANAPC11_ENST00000582222.1_5'Flank|ANAPC11_ENST00000571874.2_5'Flank|ANAPC11_ENST00000579133.1_5'Flank|ANAPC11_ENST00000572851.2_5'Flank|ALYREF_ENST00000505490.2_Missense_Mutation_p.D157N|ANAPC11_ENST00000577425.1_5'Flank|ANAPC11_ENST00000572639.1_5'Flank|ANAPC11_ENST00000577747.1_5'Flank|ANAPC11_ENST00000357385.3_5'Flank|ANAPC11_ENST00000584314.1_5'Flank	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	150	Ala/Arg/Gly-rich.|Interaction with HHV-8 ORF57 protein and with ICP27 from HHV-1. {ECO:0000250}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.			D -> N (in Ref. 5; AAD09608). {ECO:0000305}.	gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|replication fork processing (GO:0031297)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral mRNA export from host cell nucleus (GO:0046784)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|transcription export complex (GO:0000346)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)										AAGTGCACGTCTGCTGTTCCT	0.562																																						ENST00000331204.4																			0											c.(448-450)Gac>Aac		Aly/REF export factor							136.0	108.0	118.0					17																	79847127		2203	4300	6503	SO:0001583	missense	10189				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding	g.chr17:79847127C>T	AF047002	CCDS32768.1, CCDS32768.2	17q25.3	2013-02-12	2011-12-12	2011-12-12	ENSG00000183684	ENSG00000183684		"""THO complex subunits"", ""RNA binding motif (RRM) containing"""	19071	protein-coding gene	gene with protein product		604171	"""THO complex 4"""	THOC4		11032328	Standard	NM_005782		Approved	ALY, BEF, ALY/REF, REF	uc002kbu.2	Q86V81	OTTHUMG00000160470	ENST00000331204.4:c.448G>A	17.37:g.79847127C>T	ENSP00000331817:p.Asp150Asn					ALYREF_ENST00000505490.2_Missense_Mutation_p.D157N|ALYREF_ENST00000512673.1_5'UTR	p.D150N	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN			3	474	-			150	D -> N (in Ref. 5; AAD09608).		Ala/Arg/Gly-rich.|RRM.		O43672	Missense_Mutation	SNP	ENST00000331204.4	37	c.448G>A		.	.	.	.	.	.	.	.	.	.	C	20.6	4.024146	0.75390	.	.	ENSG00000183684	ENST00000331204;ENST00000505490	T;T	0.74106	-0.81;-0.81	4.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	N	0.05124	-0.11	0.53688	D	0.999977	P	0.47302	0.893	D	0.66084	0.941	T	0.78809	-0.2058	10	0.66056	D	0.02	.	15.0207	0.71630	0.0:0.8569:0.1431:0.0	.	157	E9PB61	.	N	150;157	ENSP00000331817:D150N;ENSP00000421592:D157N	ENSP00000331817:D150N	D	-	1	0	THOC4	77440423	1.000000	0.71417	0.046000	0.18839	0.979000	0.70002	7.165000	0.77544	1.219000	0.43474	0.561000	0.74099	GAC		0.562	ALYREF-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005782		26	34	0	0	0	1	0	26	34				
SLC22A13	9390	broad.mit.edu	37	3	38316585	38316585	+	Missense_Mutation	SNP	G	G	A	rs542608978		TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr3:38316585G>A	ENST00000311856.4	+	4	792	c.743G>A	c.(742-744)cGc>cAc	p.R248H	SLC22A13_ENST00000450935.2_Silent_p.P155P	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	248					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TACGGTTTCCGCAACTGGAGG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		20088	0.0		0.0	False		,,,				2504	0.001					ENST00000311856.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20						c.(742-744)cGc>cAc		solute carrier family 22 (organic anion/urate transporter), member 13							134.0	133.0	133.0					3																	38316585		2203	4300	6503	SO:0001583	missense	9390					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38316585G>A	AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.743G>A	3.37:g.38316585G>A	ENSP00000310241:p.Arg248His					SLC22A13_ENST00000450935.2_Silent_p.P155P	p.R248H	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)	4	792	+			248					B2RCV9|Q8IYG1	Missense_Mutation	SNP	ENST00000311856.4	37	c.743G>A	CCDS2676.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284440	0.59867	.	.	ENSG00000172940	ENST00000311856	T	0.58506	0.33	4.84	-0.397	0.12423	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.190771	0.45606	D	0.000358	T	0.55641	0.1933	M	0.80982	2.52	0.09310	N	0.999999	P;P	0.40553	0.673;0.721	B;B	0.42625	0.273;0.393	T	0.51260	-0.8728	10	0.46703	T	0.11	.	6.1446	0.20278	0.2743:0.1186:0.6071:0.0	.	248;248	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	H	248	ENSP00000310241:R248H	ENSP00000310241:R248H	R	+	2	0	SLC22A13	38291589	0.000000	0.05858	0.015000	0.15790	0.267000	0.26476	0.312000	0.19397	-0.321000	0.08627	0.655000	0.94253	CGC		0.617	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256		4	146	0	0	0	1	0	4	146				
TECTA	7007	broad.mit.edu	37	11	121031011	121031011	+	Silent	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr11:121031011C>T	ENST00000392793.1	+	15	5128	c.4857C>T	c.(4855-4857)tgC>tgT	p.C1619C	TECTA_ENST00000264037.2_Silent_p.C1619C			O75443	TECTA_HUMAN	tectorin alpha	1619	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.		C -> S (in DFNA12; dbSNP:rs28939691). {ECO:0000269|PubMed:10196713}.		cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACAAAGTGTGCGGTCTCTGTG	0.507																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(4855-4857)tgC>tgT		tectorin alpha							135.0	129.0	131.0					11																	121031011		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121031011C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4857C>T	11.37:g.121031011C>T						TECTA_ENST00000264037.2_Silent_p.C1619C	p.C1619C			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	15	5128	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1619		C -> S (in DFNA12; dbSNP:rs28939691).	VWFD 4.			Silent	SNP	ENST00000392793.1	37	c.4857C>T	CCDS8434.1																																																																																				0.507	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		32	28	0	0	0	1	0	32	28				
HEATR5B	54497	broad.mit.edu	37	2	37255199	37255199	+	Silent	SNP	A	A	G			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr2:37255199A>G	ENST00000233099.5	-	24	3815	c.3720T>C	c.(3718-3720)ttT>ttC	p.F1240F	HEATR5B_ENST00000354531.2_Silent_p.F1240F	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1240						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GAGGGGCCACAAAGGGCTTTG	0.443																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(3718-3720)ttT>ttC		HEAT repeat containing 5B							97.0	103.0	101.0					2																	37255199		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37255199A>G	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.3720T>C	2.37:g.37255199A>G						HEATR5B_ENST00000354531.2_Silent_p.F1240F	p.F1240F	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			24	3815	-		all_hematologic(82;0.21)	1240					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.3720T>C	CCDS33181.1																																																																																				0.443	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		15	31	0	0	0	1	0	15	31				
ANKRD30A	91074	broad.mit.edu	37	10	37451578	37451578	+	Splice_Site	SNP	G	G	C			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr10:37451578G>C	ENST00000602533.1	+	16	1833	c.1734G>C	c.(1732-1734)gaG>gaC	p.E578D	ANKRD30A_ENST00000374660.1_Splice_Site_p.E578D|ANKRD30A_ENST00000361713.1_Splice_Site_p.E578D			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	634					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCTTTTTAGAGCCTCCGGGGA	0.333																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.e16-1		ankyrin repeat domain 30A							190.0	157.0	167.0					10																	37451578		1828	4079	5907	SO:0001630	splice_region_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37451578G>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1733-1G>C	10.37:g.37451578G>C						ANKRD30A_ENST00000602533.1_Splice_Site_p.E578_splice|ANKRD30A_ENST00000361713.1_Splice_Site_p.E578_splice	p.E578_splice			Q9BXX3	AN30A_HUMAN			16	1833	+			634					Q5W025	Splice_Site	SNP	ENST00000602533.1	37	c.1732_splice		.	.	.	.	.	.	.	.	.	.	.	2.823	-0.244338	0.05906	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06608	3.28;3.28	0.731	-1.46	0.08800	.	.	.	.	.	T	0.02929	0.0087	N	0.22421	0.69	0.09310	N	0.999993	B	0.33904	0.431	B	0.24155	0.051	T	0.45934	-0.9227	9	0.16420	T	0.52	.	3.9895	0.09530	0.0:0.0:0.5314:0.4686	.	634	Q9BXX3	AN30A_HUMAN	D	578	ENSP00000354432:E578D;ENSP00000363792:E578D	ENSP00000354432:E578D	E	+	3	2	ANKRD30A	37491584	0.762000	0.28451	0.577000	0.28562	0.146000	0.21551	-0.166000	0.09954	-0.645000	0.05458	0.089000	0.15464	GAG		0.333	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	Missense_Mutation	6	97	0	0	0	1	0	6	97				
PELO	53918	broad.mit.edu	37	5	52096235	52096235	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr5:52096235C>T	ENST00000274311.2	+	2	992	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F	ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron|PELO_ENST00000506949.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	3					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GGCCATGAAGCTCGTGAGGAA	0.612																																						ENST00000274311.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11						c.(7-9)Ctc>Ttc		pelota homolog (Drosophila)							37.0	41.0	40.0					5																	52096235		2203	4300	6503	SO:0001583	missense	53918				cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding	g.chr5:52096235C>T		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"""pelota (Drosophila) homolog"""			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.7C>T	5.37:g.52096235C>T	ENSP00000274311:p.Leu3Phe					ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron	p.L3F	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN			2	992	+		Lung NSC(810;4.94e-05)|Breast(144;0.0848)	3					Q9GZS6|Q9Y306	Missense_Mutation	SNP	ENST00000274311.2	37	c.7C>T	CCDS3956.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658772	0.67586	.	.	ENSG00000152684	ENST00000274311	T	0.57907	0.37	5.84	5.84	0.93424	eRF1 domain 1/Pelota-like (1);	0.205352	0.32161	U	0.006500	T	0.77948	0.4207	M	0.87038	2.855	0.58432	D	0.999999	D	0.76494	0.999	D	0.77557	0.99	T	0.80533	-0.1340	10	0.72032	D	0.01	-2.0909	19.7542	0.96283	0.0:1.0:0.0:0.0	.	3	Q9BRX2	PELO_HUMAN	F	3	ENSP00000274311:L3F	ENSP00000274311:L3F	L	+	1	0	PELO	52131992	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	3.436000	0.52856	2.768000	0.95171	0.650000	0.86243	CTC		0.612	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946		6	25	0	0	0	1	0	6	25				
C1S	716	broad.mit.edu	37	12	7177521	7177521	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr12:7177521G>A	ENST00000406697.1	+	15	2261	c.1633G>A	c.(1633-1635)Gtc>Atc	p.V545I	C1S_ENST00000360817.5_Missense_Mutation_p.V545I|C1S_ENST00000328916.3_Missense_Mutation_p.V545I|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000402681.3_Missense_Mutation_p.V378I			P09871	C1S_HUMAN	complement component 1, s subcomponent	545	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGGACCCACCGTCTCTCCCAT	0.552																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1633-1635)Gtc>Atc		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						60.0	58.0	59.0					12																	7177521		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177521G>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1633G>A	12.37:g.7177521G>A	ENSP00000385035:p.Val545Ile					C1S_ENST00000495061.1_3'UTR|C1S_ENST00000328916.3_Missense_Mutation_p.V545I|C1S_ENST00000402681.3_Missense_Mutation_p.V378I|C1S_ENST00000360817.5_Missense_Mutation_p.V545I	p.V545I			P09871	C1S_HUMAN			15	2261	+			545			Peptidase S1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.1633G>A	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	2.256	-0.370383	0.05069	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74	5.16	1.32	0.21799	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.411760	0.17807	N	0.161324	T	0.79879	0.4522	L	0.28776	0.89	0.09310	N	1	B	0.18968	0.032	B	0.16289	0.015	T	0.60875	-0.7176	10	0.11794	T	0.64	.	4.8397	0.13483	0.3943:0.1468:0.4589:0.0	.	545	P09871	C1S_HUMAN	I	545;545;545;539;378	ENSP00000385035:V545I;ENSP00000328173:V545I;ENSP00000354057:V545I;ENSP00000384171:V378I	ENSP00000328173:V545I	V	+	1	0	C1S	7047782	0.885000	0.30320	0.001000	0.08648	0.065000	0.16274	1.537000	0.36083	0.070000	0.16634	-1.615000	0.00797	GTC		0.552	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		8	16	0	0	0	1	0	8	16				
MYH13	8735	broad.mit.edu	37	17	10212891	10212891	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr17:10212891C>T	ENST00000418404.3	-	33	5076	c.4913G>A	c.(4912-4914)cGc>cAc	p.R1638H	MYH13_ENST00000252172.4_Missense_Mutation_p.R1638H|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1638					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGCCATCTGGCGGTTGGAGTG	0.622																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(4912-4914)cGc>cAc		myosin, heavy chain 13, skeletal muscle							39.0	41.0	41.0					17																	10212891		2172	4289	6461	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10212891C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4913G>A	17.37:g.10212891C>T	ENSP00000404570:p.Arg1638His					MYH13_ENST00000570743.1_Missense_Mutation_p.R1638H|MYH13_ENST00000252172.4_Missense_Mutation_p.R1638H	p.R1638H			Q9UKX3	MYH13_HUMAN			33	5076	-			1638					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.4913G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342235	0.61073	.	.	ENSG00000006788	ENST00000252172	D	0.81908	-1.55	4.32	3.34	0.38264	Myosin tail (1);	.	.	.	.	D	0.84701	0.5530	M	0.85373	2.75	0.34937	D	0.749933	B	0.23128	0.08	B	0.27170	0.077	D	0.88884	0.3341	9	0.87932	D	0	.	13.0259	0.58814	0.0:0.9172:0.0:0.0827	.	1638	Q9UKX3	MYH13_HUMAN	H	1638	ENSP00000252172:R1638H	ENSP00000252172:R1638H	R	-	2	0	MYH13	10153616	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.841000	0.69409	2.396000	0.81511	0.563000	0.77884	CGC		0.622	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		6	16	0	0	0	1	0	6	16				
CSMD3	114788	broad.mit.edu	37	8	113697664	113697664	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr8:113697664G>T	ENST00000297405.5	-	15	2697	c.2453C>A	c.(2452-2454)tCa>tAa	p.S818*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S778*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S818*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S714*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	818	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCCACGTCCTGACATTGAGTG	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(2452-2454)tCa>tAa		CUB and Sushi multiple domains 3							76.0	73.0	74.0					8																	113697664		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113697664G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2453C>A	8.37:g.113697664G>T	ENSP00000297405:p.Ser818*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S818*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S778*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S714*	p.S818*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			15	2697	-			818			CUB 4.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.2453C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	44	10.927700	0.99489	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	.	.	.	X	778;818;158;714;818	.	ENSP00000297405:S818X	S	-	2	0	CSMD3	113766840	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	TCA		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		21	54	1	0	4.35082e-09	1	4.79478e-09	21	54				
SDF2L1	23753	broad.mit.edu	37	22	21998284	21998284	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr22:21998284C>G	ENST00000248958.4	+	3	562	c.486C>G	c.(484-486)ttC>ttG	p.F162L	KB-1440D3.14_ENST00000609038.1_lincRNA	NM_022044.2	NP_071327.2	Q9HCN8	SDF2L_HUMAN	stromal cell-derived factor 2-like 1	162	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.			F -> L (in Ref. 1; BAB18277). {ECO:0000305}.		endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				prostate(1)	1	Colorectal(54;0.105)					CTGTGCGCTTCCAGCATGTGG	0.627											OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000248958.4																			0				prostate(1)	1						c.(484-486)ttC>ttG		stromal cell-derived factor 2-like 1							107.0	74.0	85.0					22																	21998284		2203	4300	6503	SO:0001583	missense	23753					endoplasmic reticulum lumen|membrane		g.chr22:21998284C>G		CCDS13792.1	22q11.21	2008-07-01			ENSG00000128228	ENSG00000128228			10676	protein-coding gene	gene with protein product	"""dihydropyrimidinase-like 2"", ""PWP1-interacting protein 8"""	607551				10591208, 11162531	Standard	NM_022044		Approved	AP000553.C22.4, OTTHUMT00000075032	uc002zvf.3	Q9HCN8	OTTHUMG00000150820	ENST00000248958.4:c.486C>G	22.37:g.21998284C>G	ENSP00000248958:p.Phe162Leu		OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	752		p.F162L	NM_022044.2	NP_071327.2	Q9HCN8	SDF2L_HUMAN			3	562	+	Colorectal(54;0.105)		162	F -> L (in Ref. 1; BAB18277).		MIR 3.		A2RUD3|Q9BRI5	Missense_Mutation	SNP	ENST00000248958.4	37	c.486C>G	CCDS13792.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.730612	0.30684	.	.	ENSG00000128228	ENST00000248958	T	0.74842	-0.88	4.6	3.59	0.41128	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	T	0.59059	0.2166	N	0.24115	0.695	0.58432	D	0.999998	B	0.33073	0.396	B	0.40256	0.324	T	0.54159	-0.8335	10	0.02654	T	1	-17.9451	10.5107	0.44860	0.0:0.9047:0.0:0.0953	.	162	Q9HCN8	SDF2L_HUMAN	L	162	ENSP00000248958:F162L	ENSP00000248958:F162L	F	+	3	2	SDF2L1	20328284	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.482000	0.60257	1.168000	0.42723	0.485000	0.47835	TTC		0.627	SDF2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320197.1	NM_022044		3	20	0	0	0	1	0	3	20				
LRRC1	55227	broad.mit.edu	37	6	53660191	53660191	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr6:53660191A>G	ENST00000370888.1	+	1	414	c.137A>G	c.(136-138)aAc>aGc	p.N46S	RP13-476E20.1_ENST00000429053.1_RNA|LRRC1_ENST00000370882.1_Missense_Mutation_p.N46S	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	46						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CTGGACGCCAACCAGCTCCGC	0.662																																						ENST00000370888.1																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(136-138)aAc>aGc		leucine rich repeat containing 1							35.0	34.0	35.0					6																	53660191		2203	4300	6503	SO:0001583	missense	55227					cytoplasm|membrane		g.chr6:53660191A>G	AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.137A>G	6.37:g.53660191A>G	ENSP00000359925:p.Asn46Ser					LRRC1_ENST00000370882.1_Missense_Mutation_p.N46S	p.N46S	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0745)	1	414	+	Lung NSC(77;0.0147)		46					Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	c.137A>G	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	A	23.8	4.464365	0.84425	.	.	ENSG00000137269	ENST00000370888;ENST00000370882	T;T	0.72615	-0.67;-0.67	4.88	3.71	0.42584	.	0.000000	0.64402	D	0.000001	T	0.80773	0.4687	M	0.89840	3.065	0.53688	D	0.999979	D	0.76494	0.999	D	0.80764	0.994	T	0.83082	-0.0137	10	0.87932	D	0	.	9.3148	0.37928	0.9126:0.0:0.0873:0.0	.	46	Q9BTT6	LRRC1_HUMAN	S	46	ENSP00000359925:N46S;ENSP00000359919:N46S	ENSP00000359919:N46S	N	+	2	0	LRRC1	53768150	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.213000	0.89758	0.692000	0.31613	0.460000	0.39030	AAC		0.662	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		12	13	0	0	0	1	0	12	13				
ADAMTS10	81794	broad.mit.edu	37	19	8665932	8665932	+	Silent	SNP	G	G	A			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr19:8665932G>A	ENST00000597188.1	-	6	960	c.690C>T	c.(688-690)ggC>ggT	p.G230G	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000270328.4_Silent_p.G230G	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	230						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ATCGCTTCAGGCCTGGCTGGC	0.637																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(688-690)ggC>ggT		ADAM metallopeptidase with thrombospondin type 1 motif, 10							60.0	54.0	56.0					19																	8665932		2203	4300	6503	SO:0001819	synonymous_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8665932G>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.690C>T	19.37:g.8665932G>A						ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Silent_p.G230G	p.G230G			Q9H324	ATS10_HUMAN			5	956	-			230					M0QZE4	Silent	SNP	ENST00000597188.1	37	c.690C>T	CCDS12206.1																																																																																				0.637	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		17	24	0	0	0	1	0	17	24				
DLC1	10395	broad.mit.edu	37	8	13357328	13357328	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr8:13357328C>T	ENST00000276297.4	-	2	662	c.253G>A	c.(253-255)Gtg>Atg	p.V85M	DLC1_ENST00000511869.1_Missense_Mutation_p.V85M|DLC1_ENST00000316609.5_Missense_Mutation_p.V85M	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	85					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTTTCGTCCACATCCTTTGAA	0.458																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(253-255)Gtg>Atg		deleted in liver cancer 1							224.0	226.0	225.0					8																	13357328		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13357328C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.253G>A	8.37:g.13357328C>T	ENSP00000276297:p.Val85Met					DLC1_ENST00000316609.5_Missense_Mutation_p.V85M|DLC1_ENST00000511869.1_Missense_Mutation_p.V85M	p.V85M	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			2	662	-			85					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.253G>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	4.451	0.083590	0.08533	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.35605	1.3;1.3;1.3	5.37	2.57	0.30868	.	0.449783	0.16878	N	0.195815	T	0.27169	0.0666	L	0.43923	1.385	0.09310	N	1	B;B;B	0.29627	0.144;0.073;0.252	B;B;B	0.27608	0.081;0.048;0.049	T	0.22836	-1.0205	10	0.72032	D	0.01	.	5.8961	0.18939	0.1265:0.5951:0.0:0.2784	.	85;85;85	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	M	85	ENSP00000276297:V85M;ENSP00000321034:V85M;ENSP00000425878:V85M	ENSP00000276297:V85M	V	-	1	0	DLC1	13401699	0.068000	0.21057	0.058000	0.19502	0.040000	0.13550	0.325000	0.19628	0.771000	0.33359	0.655000	0.94253	GTG		0.458	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		6	251	0	0	0	1	0	6	251				
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G	rs376401117	byFrequency	TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr16:90126823T>G	ENST00000449207.2	-	9	1178	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	387					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522													.|||	3	0.000599042	0.0	0.0	5008	,	,		19711	0.002		0.0	False		,,,				2504	0.001					ENST00000449207.2																			0				lung(2)|ovary(2)|stomach(1)	5						c.(1159-1161)Atg>Ctg		PR domain containing 7		T	LEU/MET,	0,3874		0,0,1937	115.0	114.0	115.0		1159,	2.2	1.0	16		115	1,8265		0,1,4132	no	missense,intron	PRDM7	NM_001098173.1,NM_052996.2	15,	0,1,6069	GG,GT,TT		0.0121,0.0,0.0082	benign,	387/493,	90126823	1,12139	1937	4133	6070	SO:0001583	missense	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90126823T>G	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1159A>C	16.37:g.90126823T>G	ENSP00000396732:p.Met387Leu					PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron	p.M387L	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	9	1178	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	387					A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	c.1159A>C	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	7.534	0.659380	0.14645	0.0	1.21E-4	ENSG00000126856	ENST00000449207	T	0.10960	2.82	2.22	2.22	0.28083	.	.	.	.	.	T	0.05364	0.0142	N	0.14661	0.345	0.80722	D	1	B	0.13594	0.008	B	0.04013	0.001	T	0.34700	-0.9818	8	.	.	.	-8.2214	6.7211	0.23330	0.0:0.0:0.0:1.0	.	387	Q9NQW5	PRDM7_HUMAN	L	387	ENSP00000396732:M387L	.	M	-	1	0	PRDM7	88654324	0.994000	0.37717	0.991000	0.47740	0.589000	0.36550	3.111000	0.50360	0.995000	0.38917	0.392000	0.25879	ATG		0.522	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			3	63	0	0	0	1	0	3	63				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	96	0	0	0	1	0	4	96				
PRF1	5551	broad.mit.edu	37	10	72358340	72358340	+	Silent	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr10:72358340C>T	ENST00000441259.1	-	3	1297	c.1137G>A	c.(1135-1137)cgG>cgA	p.R379R	PRF1_ENST00000373209.2_Silent_p.R379R	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	379	EGF-like.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GTGGGCACGGCCGGCTGCAGT	0.701			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"""various leukaemia, lymphoma"""			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						c.(1135-1137)cgG>cgA		perforin 1 (pore forming protein)							15.0	18.0	17.0					10																	72358340		2197	4293	6490	SO:0001819	synonymous_variant	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358340C>T	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1137G>A	10.37:g.72358340C>T						PRF1_ENST00000373209.2_Silent_p.R379R	p.R379R	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	1297	-			379			EGF-like.		B2R6X4|Q59F57|Q86WX7	Silent	SNP	ENST00000441259.1	37	c.1137G>A	CCDS7305.1																																																																																				0.701	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		3	10	0	0	0	1	0	3	10				
CECR2	27443	broad.mit.edu	37	22	18027870	18027870	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr22:18027870C>A	ENST00000400585.2	+	17	2839	c.2401C>A	c.(2401-2403)Cca>Aca	p.P801T	CECR2_ENST00000262608.8_Missense_Mutation_p.P944T|CECR2_ENST00000400573.5_Missense_Mutation_p.P943T			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	985					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGAGAAACCACCAGGTGTTGG	0.473																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2830-2832)Cca>Aca		cat eye syndrome chromosome region, candidate 2							31.0	32.0	31.0					22																	18027870		1934	4130	6064	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18027870C>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2401C>A	22.37:g.18027870C>A	ENSP00000383428:p.Pro801Thr					CECR2_ENST00000400573.4_Missense_Mutation_p.P943T|CECR2_ENST00000400585.2_Missense_Mutation_p.P801T	p.P944T	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	16	2830	+		all_epithelial(15;0.139)	985					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.2830C>A		.	.	.	.	.	.	.	.	.	.	C	1.488	-0.555534	0.03967	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.26223	1.87;1.87;1.75	4.13	-2.62	0.06152	.	1.172050	0.06586	N	0.751173	T	0.23289	0.0563	L	0.36672	1.1	0.09310	N	1	B;B;B	0.17038	0.02;0.02;0.02	B;B;B	0.16722	0.016;0.016;0.016	T	0.34650	-0.9820	10	0.29301	T	0.29	0.1646	17.2433	0.87021	0.0:0.5768:0.4232:0.0	.	985;801;943	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	T	801;943;944	ENSP00000383428:P801T;ENSP00000383417:P943T;ENSP00000262608:P944T	ENSP00000262608:P944T	P	+	1	0	CECR2	16407870	0.049000	0.20398	0.022000	0.16811	0.006000	0.05464	0.079000	0.14782	-0.422000	0.07405	-0.384000	0.06662	CCA		0.473	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		3	5	1	0	0.115264	1	0.119697	3	5				
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		2	Deletion - Frameshift(2)	p.P6fs*27(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(16-18)cfs		notch 2																																				SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612003_120612004delGG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs						p.P6fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	236_237	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	6					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.17_18delCC	CCDS908.1																																																																																				0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		10	15						10	15	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708854	180708855	+	lincRNA	INS	-	-	G	rs60396213|rs57773684		TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr5:180708854_180708855insG	ENST00000412295.2	+	0	238																											GAGCGGTAGGAGGGGGGCTGGA	0.693																																						ENST00000412295.2																			0																																																			0							g.chr5:180708854_180708855insG																													5.37:g.180708860_180708860dupG														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.693	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			2	4						2	4	---	---	---	---
RBAK	57786	broad.mit.edu	37	7	5112027	5112029	+	IGR	DEL	TGC	TGC	-			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr7:5112027_5112029delTGC	ENST00000396912.1	+	0	6551				RBAK-RBAKDN_ENST00000396904.2_In_Frame_Del_p.A97del|RBAK-RBAKDN_ENST00000407184.1_In_Frame_Del_p.C117del|RBAKDN_ENST00000498308.1_lincRNA	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger						negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CCCCCgctgttgctgctgctgct	0.709																																						ENST00000407184.1																			0				NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10						c.(334-336)del		RB-associated KRAB zinc finger				46,3424		4,38,1693						-2.5	0.6			13	125,6467		13,99,3184	no	coding	RBAK-LOC389458	NM_001204513.1		17,137,4877	A1A1,A1R,RR		1.8962,1.3256,1.6995				171,9891				SO:0001628	intergenic_variant	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5112027_5112029delTGC	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155		7.37:g.5112036_5112038delTGC						RBAK_ENST00000396904.2_In_Frame_Del_p.VA91del|RBAK_ENST00000498308.1_3'UTR	p.C117del			Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	7	600_602	+		Ovarian(82;0.0175)	0					A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	In_Frame_Del	DEL	ENST00000396912.1	37	c.334_336delTGC	CCDS5337.1																																																																																				0.709	RBAK-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_021163		2	4						2	4	---	---	---	---
OMD	4958	broad.mit.edu	37	9	95178945	95178945	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr9:95178945delG	ENST00000375550.4	-	2	1171	c.896delC	c.(895-897)ccafs	p.P299fs	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	299					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						CAAATTTCTTGGAATATAGAA	0.308			T	USP6	aneurysmal bone cysts																																	ENST00000375550.4				Dom	yes		9	9q22.31	4958	T	osteomodulin			M	USP6		aneurysmal bone cysts		0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						c.(895-897)cafs		osteomodulin							60.0	61.0	61.0					9																	95178945		2200	4292	6492	SO:0001589	frameshift_variant	4958				cell adhesion	proteinaceous extracellular matrix		g.chr9:95178945delG	AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8134	protein-coding gene	gene with protein product	"""osteoadherin proteoglycan"""						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.896delC	9.37:g.95178945delG	ENSP00000364700:p.Pro299fs					CENPP_ENST00000375587.3_Intron	p.P299fs	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN			2	1171	-			299					Q5TBF4	Frame_Shift_Del	DEL	ENST00000375550.4	37	c.896delC	CCDS6696.1																																																																																				0.308	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	NM_005014		11	30						11	30	---	---	---	---
TMEM179B	374395	broad.mit.edu	37	11	62557409	62557411	+	In_Frame_Del	DEL	GTC	GTC	-	rs149169067		TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr11:62557409_62557411delGTC	ENST00000333449.4	+	5	555_557	c.550_552delGTC	c.(550-552)gtcdel	p.V185del	TMEM223_ENST00000525631.1_Intron|NXF1_ENST00000533048.1_5'Flank|TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000527073.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	185						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						GGTGCTCCAGGTCGTGCAGTGGA	0.562																																						ENST00000333449.4																			0				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						c.(550-552)del		transmembrane protein 179B																																				SO:0001651	inframe_deletion	374395					integral to membrane		g.chr11:62557409_62557411delGTC	BC051355	CCDS8036.1	11q12.3	2007-11-26			ENSG00000185475	ENSG00000185475			33744	protein-coding gene	gene with protein product							Standard	NM_199337		Approved		uc001nvd.4	Q7Z7N9	OTTHUMG00000167611	ENST00000333449.4:c.550_552delGTC	11.37:g.62557409_62557411delGTC	ENSP00000333697:p.Val185del					TMEM223_ENST00000527073.1_Intron|TMEM223_ENST00000525631.1_Intron|TMEM179B_ENST00000533861.1_3'UTR	p.V185del	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN			5	555_557	+			185						In_Frame_Del	DEL	ENST00000333449.4	37	c.550_552delGTC	CCDS8036.1																																																																																				0.562	TMEM179B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395362.2	NM_199337		66	122						66	122	---	---	---	---
FOXA1	3169	broad.mit.edu	37	14	38061229	38061237	+	In_Frame_Del	DEL	ACATGTTGC	ACATGTTGC	-	rs539948672		TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr14:38061229_38061237delACATGTTGC	ENST00000250448.2	-	2	813_821	c.752_760delGCAACATGT	c.(751-762)ggcaacatgttc>gtc	p.251_254GNMF>V	FOXA1_ENST00000540786.1_In_Frame_Del_p.218_221GNMF>V|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	251					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.M253R(2)|p.M253K(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCGTTCTCGAACATGTTGCCGGAGTCCGG	0.689																																						ENST00000250448.2																			4	Substitution - Missense(4)	p.M253R(2)|p.M253K(2)	prostate(4)	breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(751-762)gtc>g		forkhead box A1																																				SO:0001651	inframe_deletion	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding	g.chr14:38061229_38061237delACATGTTGC	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.752_760delGCAACATGT	14.37:g.38061229_38061237delACATGTTGC	ENSP00000250448:p.Gly251_Phe254delinsVal					FOXA1_ENST00000540786.1_In_Frame_Del_p.GNMF218del|FOXA1_ENST00000545425.2_5'UTR	p.GNMF251del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	813_821	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		251					B2R9H6|B7ZAP5|Q9H2A0	In_Frame_Del	DEL	ENST00000250448.2	37	c.752_760delGCAACATGT	CCDS9665.1																																																																																				0.689	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			8	15						8	15	---	---	---	---
WSCD1	23302	broad.mit.edu	37	17	5984071	5984071	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr17:5984071delC	ENST00000574946.1	+	2	483	c.93delC	c.(91-93)agcfs	p.S31fs	WSCD1_ENST00000317744.5_Frame_Shift_Del_p.S31fs|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000539421.1_Frame_Shift_Del_p.S31fs|WSCD1_ENST00000574232.1_Frame_Shift_Del_p.S31fs			Q658N2	WSCD1_HUMAN	WSC domain containing 1	31						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TGACCGGCAGCCTGCTGCTGC	0.682																																						ENST00000574946.1																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(91-93)agfs		WSC domain containing 1							16.0	17.0	17.0					17																	5984071		2130	4128	6258	SO:0001589	frameshift_variant	23302					integral to membrane	sulfotransferase activity	g.chr17:5984071delC		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.93delC	17.37:g.5984071delC	ENSP00000460825:p.Ser31fs					WSCD1_ENST00000574232.1_Frame_Shift_Del_p.S31fs|WSCD1_ENST00000317744.5_Frame_Shift_Del_p.S31fs|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000539421.1_Frame_Shift_Del_p.S31fs	p.S31fs			Q658N2	WSCD1_HUMAN			2	483	+			31					A8K0N8|D3DTM3|O60276|Q96G45	Frame_Shift_Del	DEL	ENST00000574946.1	37	c.93delC	CCDS32538.1																																																																																				0.682	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		8	13						8	13	---	---	---	---
LRRC37A4P	55073	broad.mit.edu	37	17	43591984	43591985	+	RNA	INS	-	-	G	rs368999726		TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr17:43591984_43591985insG	ENST00000579913.1	-	0	537_538				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTGGGTCATGCGGAGCGAGTTT	0.411																																						ENST00000253803.2																			0																																																			0							g.chr17:43591984_43591985insG	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43591986_43591986dupG						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	INS	ENST00000579913.1	37																																																																																						0.411	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		8	28						8	28	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70465321	70465322	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chrX:70465321_70465322delGG	ENST00000353904.2	-	18	3061_3062	c.2874_2875delCC	c.(2872-2877)aaccagfs	p.NQ958fs	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.NQ958fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.NQ960fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.NQ960fs|ZMYM3_ENST00000373998.1_Frame_Shift_Del_p.NQ946fs	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	958					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCTGCACTCTGGTTGCTCACAA	0.545																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2836-2841)aaagfs		zinc finger, MYM-type 3																																				SO:0001589	frameshift_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70465321_70465322delGG	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2874_2875delCC	X.37:g.70465321_70465322delGG	ENSP00000343909:p.Asn958fs					ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.NQ958fs|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.NQ958fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.NQ960fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.NQ960fs	p.NQ946fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			18	3535_3536	-	Renal(35;0.156)		958					D3DVV3|O15089|Q96E26	Frame_Shift_Del	DEL	ENST00000353904.2	37	c.2838_2839delCC	CCDS14409.1																																																																																				0.545	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		4	5						4	5	---	---	---	---
