#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRAMEF10	343071	broad.mit.edu	37	1	12954474	12954474	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:12954474T>A	ENST00000235347.4	-	3	888	c.809A>T	c.(808-810)cAg>cTg	p.Q270L		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	270					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATAAAGCATCTGGGGGTAGTA	0.473																																						uc001auo.2		NA																	0					0						c.(808-810)CAG>CTG		PRAME family member 10							159.0	101.0	117.0					1																	12954474		1185	2962	4147	SO:0001583	missense	343071							g.chr1:12954474T>A	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.809A>T	1.37:g.12954474T>A	ENSP00000235347:p.Gln270Leu						p.Q270L	NM_001039361	NP_001034450	O60809	PRA10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	882	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	270					Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	c.809A>T	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	12.95	2.090818	0.36855	.	.	ENSG00000187545	ENST00000235347	T	0.01084	5.36	1.57	-2.25	0.06888	.	0.528820	0.18189	N	0.148866	T	0.04318	0.0119	M	0.89785	3.06	0.09310	N	1	D	0.55800	0.973	P	0.56434	0.798	T	0.06826	-1.0805	10	0.87932	D	0	.	5.3168	0.15860	0.0:0.4158:0.0:0.5842	.	270	O60809	PRA10_HUMAN	L	270	ENSP00000235347:Q270L	ENSP00000235347:Q270L	Q	-	2	0	PRAMEF10	12877061	0.000000	0.05858	0.000000	0.03702	0.242000	0.25591	-0.147000	0.10234	-0.684000	0.05183	0.163000	0.16589	CAG		0.473	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		41	165	0	0	0	0	41	165				
CTRC	11330	broad.mit.edu	37	1	15771229	15771229	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:15771229G>A	ENST00000375949.4	+	6	648	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	CTRC_ENST00000483406.1_Intron|CTRC_ENST00000375943.2_Intron	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	208	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCGATGGCGTCATCTCAGC	0.612																																						uc001awi.1		NA																	0					0						c.(622-624)GTC>ATC		chymotrypsin C preproprotein							107.0	96.0	100.0					1																	15771229		2203	4300	6503	SO:0001583	missense	11330				proteolysis		serine-type endopeptidase activity	g.chr1:15771229G>A	BC015118	CCDS156.1	1p36.21	2009-02-18			ENSG00000162438	ENSG00000162438	3.4.21.2		2523	protein-coding gene	gene with protein product	"""elastase 4"""	601405				8635596	Standard	NM_007272		Approved	CLCR, ELA4	uc001awi.1	Q99895	OTTHUMG00000002255	ENST00000375949.4:c.622G>A	1.37:g.15771229G>A	ENSP00000365116:p.Val208Ile					CTRC_uc001awj.1_Intron	p.V208I	NM_007272	NP_009203	Q99895	CTRC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	6	645	+		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)	208			Peptidase S1.		A8K082|O00765|Q9NUH5	Missense_Mutation	SNP	ENST00000375949.4	37	c.622G>A	CCDS156.1	.	.	.	.	.	.	.	.	.	.	G	7.064	0.566922	0.13560	.	.	ENSG00000162438	ENST00000375949	D	0.92858	-3.12	5.13	2.29	0.28610	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.526871	0.21091	N	0.080312	D	0.83681	0.5307	N	0.21508	0.67	0.58432	D	0.999998	B	0.06786	0.001	B	0.09377	0.004	T	0.73579	-0.3938	10	0.35671	T	0.21	-42.4991	7.9802	0.30179	0.3169:0.0:0.6831:0.0	.	208	Q99895	CTRC_HUMAN	I	208	ENSP00000365116:V208I	ENSP00000365116:V208I	V	+	1	0	CTRC	15643816	0.054000	0.20591	0.482000	0.27366	0.843000	0.47879	0.349000	0.20055	0.350000	0.24002	0.561000	0.74099	GTC		0.612	CTRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006435.1	NM_007272		9	55	0	0	0	0	9	55				
SLC9A1	6548	broad.mit.edu	37	1	27427055	27427055	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:27427055C>T	ENST00000263980.3	-	12	2766	c.2191G>A	c.(2191-2193)Gac>Aac	p.D731N	SLC9A1_ENST00000545949.1_Missense_Mutation_p.D392N|SLC9A1_ENST00000490329.1_5'Flank	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	731					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TTCACCAGGTCCACAGACTCG	0.602																																						uc001bnm.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2191-2193)GAC>AAC		solute carrier family 9, isoform A1	Amiloride(DB00594)						221.0	212.0	215.0					1																	27427055		2203	4300	6503	SO:0001583	missense	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27427055C>T	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.2191G>A	1.37:g.27427055C>T	ENSP00000263980:p.Asp731Asn					SLC9A1_uc001bnl.2_Missense_Mutation_p.D235N|SLC9A1_uc010ofk.1_Missense_Mutation_p.D392N	p.D731N	NM_003047	NP_003038	P19634	SL9A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	12	2817	-			731			Cytoplasmic (Potential).		B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	ENST00000263980.3	37	c.2191G>A	CCDS295.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645286	0.47258	.	.	ENSG00000090020	ENST00000263980;ENST00000374089;ENST00000545949;ENST00000447808	T;T	0.47528	0.84;1.42	4.56	4.56	0.56223	.	0.301569	0.26867	N	0.022094	T	0.41627	0.1167	L	0.45581	1.43	0.49130	D	0.999756	B	0.16802	0.019	B	0.14023	0.01	T	0.27706	-1.0066	10	0.15952	T	0.53	.	17.0899	0.86619	0.0:1.0:0.0:0.0	.	731	P19634	SL9A1_HUMAN	N	731;235;392;152	ENSP00000263980:D731N;ENSP00000445520:D392N	ENSP00000263980:D731N	D	-	1	0	SLC9A1	27299642	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	3.795000	0.55499	2.365000	0.80145	0.585000	0.79938	GAC		0.602	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		61	246	0	0	0	0	61	246				
WASF2	10163	broad.mit.edu	37	1	27736225	27736225	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:27736225T>A	ENST00000430629.2	-	8	1515	c.1300A>T	c.(1300-1302)Agc>Tgc	p.S434C	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	434					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		CGGGCATCGCTCACGGCAGGC	0.577																																						uc001bof.1		NA																	0				skin(2)|ovary(1)	3						c.(1300-1302)AGC>TGC		WAS protein family, member 2							81.0	77.0	78.0					1																	27736225		2203	4300	6503	SO:0001583	missense	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27736225T>A	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.1300A>T	1.37:g.27736225T>A	ENSP00000396211:p.Ser434Cys					WASF2_uc010ofl.1_Intron	p.S434C	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)	8	1516	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	434					B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	ENST00000430629.2	37	c.1300A>T	CCDS304.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.895711	0.72639	.	.	ENSG00000158195	ENST00000430629	T	0.45276	0.9	4.69	4.69	0.59074	.	0.338132	0.34460	N	0.003947	T	0.56877	0.2015	M	0.82517	2.595	0.80722	D	1	D	0.56287	0.975	P	0.50791	0.65	T	0.66200	-0.5983	10	0.72032	D	0.01	-7.0148	13.8191	0.63309	0.0:0.0:0.0:1.0	.	434	Q9Y6W5	WASF2_HUMAN	C	434	ENSP00000396211:S434C	ENSP00000396211:S434C	S	-	1	0	WASF2	27608812	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	4.134000	0.57990	1.754000	0.51921	0.519000	0.50382	AGC		0.577	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		12	72	0	0	0	0	12	72				
PHACTR4	65979	broad.mit.edu	37	1	28800237	28800237	+	Missense_Mutation	SNP	C	C	G	rs201435138		TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:28800237C>G	ENST00000373839.3	+	7	1256	c.995C>G	c.(994-996)tCg>tGg	p.S332W	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.S342W	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	332	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCTATGGGCTCGGAACTACTA	0.537																																						uc001bpw.2		NA																	0					0						c.(994-996)TCG>TGG		phosphatase and actin regulator 4 isoform 1		C	TRP/SER,TRP/SER	1,4187		0,1,2093	196.0	202.0	200.0		995,1025	2.8	0.2	1		200	2,8428		0,2,4213	yes	missense,missense	PHACTR4	NM_001048183.1,NM_023923.3	177,177	0,3,6306	GG,GC,CC		0.0237,0.0239,0.0238	probably-damaging,probably-damaging	332/703,342/713	28800237	3,12615	2094	4215	6309	SO:0001583	missense	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800237C>G	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.995C>G	1.37:g.28800237C>G	ENSP00000362945:p.Ser332Trp					PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.S316W|PHACTR4_uc001bpy.2_Missense_Mutation_p.S342W	p.S332W	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1277	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	332			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	c.995C>G	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679230	0.29783	2.39E-4	2.37E-4	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.24350	1.88;1.86	5.74	2.81	0.32909	.	0.754446	0.12298	N	0.481406	T	0.35219	0.0924	L	0.47716	1.5	0.39741	D	0.971742	D;D	0.65815	0.995;0.981	P;P	0.57960	0.83;0.563	T	0.10314	-1.0635	10	0.72032	D	0.01	-0.2308	6.9228	0.24397	0.0:0.7039:0.1429:0.1532	.	342;332	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	W	332;342;331	ENSP00000362945:S332W;ENSP00000362942:S342W	ENSP00000362942:S342W	S	+	2	0	PHACTR4	28672824	0.339000	0.24784	0.208000	0.23602	0.028000	0.11728	0.845000	0.27668	0.335000	0.23614	0.650000	0.86243	TCG		0.537	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		35	122	0	0	0	0	35	122				
AK2	204	broad.mit.edu	37	1	33502361	33502361	+	Silent	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:33502361A>G	ENST00000487289.1	-	1	84	c.69T>C	c.(67-69)ccT>ccC	p.P23P	AK2_ENST00000467905.1_Silent_p.P23P|AK2_ENST00000354858.6_Silent_p.P23P|AK2_ENST00000373449.2_Silent_p.P23P|AK2_ENST00000480134.1_Silent_p.P23P|AK2_ENST00000548033.1_Silent_p.P23P					adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CGGCCCCGGGAGGCCCCAGCA	0.667																																						uc001bwp.1		NA																	0					0						c.(67-69)CCT>CCC		adenylate kinase 2 isoform a							11.0	12.0	12.0					1																	33502361		2202	4293	6495	SO:0001819	synonymous_variant	204				nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding	g.chr1:33502361A>G	U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"""Adenylate kinases"""	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000487289.1:c.69T>C	1.37:g.33502361A>G						AK2_uc001bwo.1_Silent_p.P23P|AK2_uc010ohq.1_Silent_p.P23P|AK2_uc009vud.1_Silent_p.P23P|AK2_uc010ohr.1_5'UTR|AK2_uc001bwq.1_5'UTR	p.P23P	NM_001625	NP_001616	P54819	KAD2_HUMAN			1	111	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	23			ATP (By similarity).			Silent	SNP	ENST00000487289.1	37	c.69T>C																																																																																					0.667	AK2-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000011889.4	NM_001625		2	10	0	0	0	0	2	10				
ZMYM4	9202	broad.mit.edu	37	1	35853113	35853113	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:35853113A>T	ENST00000314607.6	+	13	2251	c.2171A>T	c.(2170-2172)aAt>aTt	p.N724I	ZMYM4_ENST00000373297.2_Missense_Mutation_p.N635I	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	724					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAATAAATAATGTAATGGCA	0.318																																						uc001byt.2		NA																	0				large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2170-2172)AAT>ATT		zinc finger protein 262							80.0	89.0	86.0					1																	35853113		2203	4299	6502	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35853113A>T	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2171A>T	1.37:g.35853113A>T	ENSP00000322915:p.Asn724Ile					ZMYM4_uc009vuu.2_Missense_Mutation_p.N692I|ZMYM4_uc001byu.2_Missense_Mutation_p.N400I|ZMYM4_uc009vuv.2_Missense_Mutation_p.N463I	p.N724I	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN			13	2251	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	724			MYM-type 7.		A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.2171A>T	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.301|9.301	1.053214|1.053214	0.19907|0.19907	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	T;T|.	0.24723|.	1.84;1.87|.	5.36|5.36	4.23|4.23	0.50019|0.50019	Zinc finger, MYM-type (1);|.	0.451246|.	0.25058|.	N|.	0.033467|.	T|.	0.38639|.	0.1048|.	L|L	0.29908|0.29908	0.895|0.895	0.32645|0.32645	N|N	0.520206|0.520206	B|.	0.23806|.	0.091|.	B|.	0.29440|.	0.102|.	T|.	0.47674|.	-0.9099|.	10|.	0.33940|.	T|.	0.23|.	-11.8608|-11.8608	7.8575|7.8575	0.29491|0.29491	0.8336:0.0:0.1664:0.0|0.8336:0.0:0.1664:0.0	.|.	724|.	Q5VZL5|.	ZMYM4_HUMAN|.	I|Y	724;635|383	ENSP00000322915:N724I;ENSP00000362394:N635I|.	ENSP00000322915:N724I|.	N|X	+|+	2|3	0|2	ZMYM4|ZMYM4	35625700|35625700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.614000|1.614000	0.36911|0.36911	2.021000|2.021000	0.59480|0.59480	0.533000|0.533000	0.62120|0.62120	AAT|TAA		0.318	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		12	34	0	0	0	0	12	34				
CHI3L2	1117	broad.mit.edu	37	1	111778261	111778261	+	Splice_Site	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:111778261G>T	ENST00000445067.2	+	8	1252	c.481G>T	c.(481-483)Gag>Tag	p.E161*	CHI3L2_ENST00000466741.1_Splice_Site_p.E82*|CHI3L2_ENST00000369748.4_Splice_Site_p.E161*|CHI3L2_ENST00000369744.2_Splice_Site_p.E151*|CHI3L2_ENST00000524472.1_Splice_Site_p.E82*			Q15782	CH3L2_HUMAN	chitinase 3-like 2	161					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		TTTTTCCTAGGAGTTAGCAGA	0.448																																						uc001eam.2		NA																	0				central_nervous_system(1)	1						c.(481-483)GAG>TAG		chitinase 3-like 2 isoform a							85.0	86.0	86.0					1																	111778261		2203	4300	6503	SO:0001630	splice_region_variant	1117				chitin catabolic process	extracellular space	cation binding|chitinase activity	g.chr1:111778261G>T	U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.481-1G>T	1.37:g.111778261G>T						CHI3L2_uc001ean.2_Nonsense_Mutation_p.E151*|CHI3L2_uc001eao.2_Nonsense_Mutation_p.E82*|CHI3L2_uc009wga.2_Nonsense_Mutation_p.E82*	p.E161*	NM_004000	NP_003991	Q15782	CH3L2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)	6	552	+		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)	161					A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Nonsense_Mutation	SNP	ENST00000445067.2	37	c.481G>T	CCDS30802.1	.	.	.	.	.	.	.	.	.	.	G	37	6.487824	0.97607	.	.	ENSG00000064886	ENST00000445067;ENST00000528451;ENST00000486561;ENST00000369744;ENST00000369748;ENST00000474304;ENST00000466741;ENST00000477185;ENST00000467038;ENST00000497587;ENST00000524472;ENST00000497220	.	.	.	3.3	2.37	0.29283	.	0.178918	0.26719	N	0.022847	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.4481	8.4612	0.32929	0.1211:0.0:0.8789:0.0	.	.	.	.	X	161;161;161;151;161;142;82;82;63;82;82;15	.	.	E	+	1	0	CHI3L2	111579784	1.000000	0.71417	0.969000	0.41365	0.899000	0.52679	4.317000	0.59184	0.696000	0.31696	0.561000	0.74099	GAG		0.448	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033669.4	NM_004000	Nonsense_Mutation	28	79	1	0	2.45e-14	2.95e-14	28	79				
TADA1	117143	broad.mit.edu	37	1	166826916	166826916	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:166826916A>G	ENST00000367874.4	-	8	989	c.896T>C	c.(895-897)cTt>cCt	p.L299P	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	299					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						TTCAATGTTAAGAGCATAGAC	0.438																																						uc001gdw.2		NA																	0				ovary(1)	1						c.(895-897)CTT>CCT		transcriptional adaptor 1-like							144.0	142.0	142.0					1																	166826916		2203	4300	6503	SO:0001583	missense	117143				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr1:166826916A>G	BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.896T>C	1.37:g.166826916A>G	ENSP00000356848:p.Leu299Pro					TADA1_uc001gdv.2_Missense_Mutation_p.L157P	p.L299P	NM_053053	NP_444281	Q96BN2	TADA1_HUMAN			8	1080	-			299					A8K4J9	Missense_Mutation	SNP	ENST00000367874.4	37	c.896T>C	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.115675	0.77323	.	.	ENSG00000152382	ENST00000367874	T	0.51574	0.7	4.53	4.53	0.55603	.	0.000000	0.64402	D	0.000002	T	0.46619	0.1402	L	0.54323	1.7	0.48452	D	0.999652	D	0.61080	0.989	P	0.56916	0.809	T	0.55347	-0.8155	9	0.72032	D	0.01	-0.1245	12.1377	0.53981	1.0:0.0:0.0:0.0	.	299	Q96BN2	TADA1_HUMAN	P	299	ENSP00000356848:L299P	ENSP00000356848:L299P	L	-	2	0	TADA1	165093540	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.590000	0.90821	2.012000	0.59069	0.533000	0.62120	CTT		0.438	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	NM_053053		26	63	0	0	0	0	26	63				
LAMC1	3915	broad.mit.edu	37	1	183095288	183095288	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:183095288G>A	ENST00000258341.4	+	16	3092	c.2835G>A	c.(2833-2835)ggG>ggA	p.G945G	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	945	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CCACCAATGGGCAGTGTGACA	0.507																																						uc001gpy.3		NA																	0				ovary(3)|large_intestine(1)|kidney(1)	5						c.(2833-2835)GGG>GGA		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						62.0	54.0	57.0					1																	183095288		2203	4300	6503	SO:0001819	synonymous_variant	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183095288G>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2835G>A	1.37:g.183095288G>A							p.G945G	NM_002293	NP_002284	P11047	LAMC1_HUMAN			16	3092	+			945			Laminin EGF-like 10.		Q5VYE7	Silent	SNP	ENST00000258341.4	37	c.2835G>A	CCDS1351.1																																																																																				0.507	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		14	41	0	0	0	0	14	41				
KCNT2	343450	broad.mit.edu	37	1	196197396	196197396	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:196197396G>T	ENST00000294725.9	-	28	4281	c.3366C>A	c.(3364-3366)tgC>tgA	p.C1122*	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Nonsense_Mutation_p.C1055*|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.C1056*|KCNT2_ENST00000367433.5_Nonsense_Mutation_p.C1098*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1122					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGTGACATTGCAGATGCTGT	0.363																																						uc001gtd.1		NA																	0				ovary(5)|breast(1)|skin(1)	7						c.(3364-3366)TGC>TGA		potassium channel, subfamily T, member 2							75.0	74.0	74.0					1																	196197396		2203	4300	6503	SO:0001587	stop_gained	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196197396G>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3366C>A	1.37:g.196197396G>T	ENSP00000294725:p.Cys1122*					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Nonsense_Mutation_p.C1055*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.C1098*|KCNT2_uc001gtg.1_RNA	p.C1122*	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			28	3426	-			1122			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Nonsense_Mutation	SNP	ENST00000294725.9	37	c.3366C>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	37	6.128304	0.97305	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	.	.	.	5.62	2.36	0.29203	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.896	9.7081	0.40229	0.2546:0.0:0.7454:0.0	.	.	.	.	X	1098;1056;1122	.	ENSP00000294725:C1122X	C	-	3	2	KCNT2	194464019	1.000000	0.71417	0.997000	0.53966	0.662000	0.39071	1.734000	0.38166	1.124000	0.41980	0.585000	0.79938	TGC		0.363	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		5	23	1	0	0.000602214	0.000666649	5	23				
CNTN2	6900	broad.mit.edu	37	1	205034950	205034950	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:205034950G>A	ENST00000331830.4	+	14	2013	c.1729G>A	c.(1729-1731)Gcc>Acc	p.A577T		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	577	Ig-like C2-type 6.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CATCCTGAACGCCCAGCTGCG	0.642																																					Melanoma(183;2548 2817 37099 41192)	uc001hbr.2		NA																	0				ovary(1)	1						c.(1729-1731)GCC>ACC		contactin 2 precursor							88.0	78.0	81.0					1																	205034950		2203	4300	6503	SO:0001583	missense	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205034950G>A	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1729G>A	1.37:g.205034950G>A	ENSP00000330633:p.Ala577Thr					CNTN2_uc001hbq.1_Missense_Mutation_p.A468T|CNTN2_uc001hbs.2_Missense_Mutation_p.A365T	p.A577T	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		14	1998	+	all_cancers(21;0.144)|Breast(84;0.0437)		577			Ig-like C2-type 6.		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.1729G>A	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604183	0.87157	.	.	ENSG00000184144	ENST00000331830	T	0.70631	-0.5	5.75	4.83	0.62350	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000062	T	0.71195	0.3311	L	0.41710	1.295	0.50467	D	0.999879	D;D	0.60575	0.988;0.988	P;P	0.54238	0.746;0.746	T	0.68296	-0.5446	10	0.26408	T	0.33	.	13.9745	0.64262	0.073:0.0:0.927:0.0	.	577;468	Q02246;Q68DA2	CNTN2_HUMAN;.	T	577	ENSP00000330633:A577T	ENSP00000330633:A577T	A	+	1	0	CNTN2	203301573	0.705000	0.27846	0.966000	0.40874	0.860000	0.49131	2.891000	0.48617	1.435000	0.47434	0.591000	0.81541	GCC		0.642	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		15	53	0	0	0	0	15	53				
ACBD3	64746	broad.mit.edu	37	1	226334387	226334387	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:226334387T>C	ENST00000366812.5	-	8	1565	c.1511A>G	c.(1510-1512)tAt>tGt	p.Y504C	RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	504	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CTTGAGGAGATAGACTCCTCT	0.453																																						uc001hpy.2		NA																	0					0						c.(1510-1512)TAT>TGT		acyl-Coenzyme A binding domain containing 3							130.0	120.0	123.0					1																	226334387		2203	4300	6503	SO:0001583	missense	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226334387T>C	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.1511A>G	1.37:g.226334387T>C	ENSP00000355777:p.Tyr504Cys						p.Y504C	NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	8	1558	-	Breast(184;0.158)		504			GOLD.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	c.1511A>G	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022794	0.75275	.	.	ENSG00000182827	ENST00000366812	T	0.74526	-0.85	5.74	5.74	0.90152	GOLD (2);	0.000000	0.85682	D	0.000000	D	0.90366	0.6985	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93154	0.6552	10	0.87932	D	0	-11.9282	16.0314	0.80579	0.0:0.0:0.0:1.0	.	504	Q9H3P7	GCP60_HUMAN	C	504	ENSP00000355777:Y504C	ENSP00000355777:Y504C	Y	-	2	0	ACBD3	224401010	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.635000	0.83286	2.193000	0.70182	0.402000	0.26972	TAT		0.453	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		18	81	0	0	0	0	18	81				
OBSCN	84033	broad.mit.edu	37	1	228431117	228431117	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:228431117G>A	ENST00000422127.1	+	10	3207	c.3163G>A	c.(3163-3165)Gag>Aag	p.E1055K	OBSCN_ENST00000570156.2_Missense_Mutation_p.E1147K|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1055K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1055	Ig-like 10.				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)	p.E1055K(4)		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)				CTACAGCTGCGAGGCCAGGGG	0.552																																						uc009xez.1		NA																	4	Substitution - Missense(4)		lung(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(3163-3165)GAG>AAG		obscurin, cytoskeletal calmodulin and							38.0	41.0	40.0					1																	228431117		2055	4189	6244	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.chr1:228431117G>A	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.3163G>A	1.37:g.228431117G>A	ENSP00000409493:p.Glu1055Lys					OBSCN_uc001hsn.2_Missense_Mutation_p.E1055K	p.E1055K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			10	3207	+		Prostate(94;0.0405)	1055			Ig-like 10.		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.3163G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249905	0.22880	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.65364	-0.15;-0.15	5.11	3.25	0.37280	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.097704	0.39544	U	0.001328	T	0.69061	0.3069	M	0.65498	2.005	0.80722	D	1	D;D	0.76494	0.999;0.994	P;P	0.61132	0.884;0.845	T	0.66184	-0.5987	10	0.10111	T	0.7	.	11.665	0.51368	0.1451:0.0:0.8549:0.0	.	1055;1055	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	1055	ENSP00000284548:E1055K;ENSP00000409493:E1055K	ENSP00000284548:E1055K	E	+	1	0	OBSCN	226497740	1.000000	0.71417	0.786000	0.31890	0.054000	0.15201	4.385000	0.59613	0.565000	0.29255	-0.374000	0.07098	GAG		0.552	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		8	35	0	0	0	0	8	35				
FRMD4A	55691	broad.mit.edu	37	10	13698719	13698719	+	Missense_Mutation	SNP	G	G	A	rs143274194		TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr10:13698719G>A	ENST00000357447.2	-	22	3238	c.2870C>T	c.(2869-2871)tCg>tTg	p.S957L	FRMD4A_ENST00000358621.4_Missense_Mutation_p.S942L|FRMD4A_ENST00000378503.1_Missense_Mutation_p.S957L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	957	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCTGTACTGCGAGCCGCTGTC	0.667																																						uc001ims.2		NA																	0				ovary(1)|skin(1)|pancreas(1)	3						c.(2869-2871)TCG>TTG		FERM domain containing 4A							71.0	61.0	64.0					10																	13698719		2202	4300	6502	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13698719G>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2870C>T	10.37:g.13698719G>A	ENSP00000350032:p.Ser957Leu					FRMD4A_uc009xjf.1_Missense_Mutation_p.S957L	p.S957L	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN			22	3222	-			957			Ser-rich.		A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.2870C>T	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996161	0.74703	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.89415	-2.49;-2.51;-2.51	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.90580	0.7047	L	0.34521	1.04	0.54753	D	0.999983	D	0.64830	0.994	P	0.61201	0.885	D	0.92216	0.5780	10	0.87932	D	0	-1.6197	17.5455	0.87860	0.0:0.0:1.0:0.0	.	957	Q9P2Q2	FRM4A_HUMAN	L	942;957;957	ENSP00000351438:S942L;ENSP00000350032:S957L;ENSP00000367764:S957L	ENSP00000350032:S957L	S	-	2	0	FRMD4A	13738725	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	8.243000	0.89821	2.114000	0.64651	0.185000	0.17295	TCG		0.667	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		4	37	0	0	0	0	4	37				
CUBN	8029	broad.mit.edu	37	10	17126460	17126460	+	Splice_Site	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr10:17126460G>A	ENST00000377833.4	-	17	2176	c.2111C>T	c.(2110-2112)tCg>tTg	p.S704L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	704					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACGCAGATCCGCTAAGAACAG	0.502																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(2110-2112)TCG>TTG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						48.0	39.0	42.0					10																	17126460		2203	4300	6503	SO:0001630	splice_region_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17126460G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2111-1C>T	10.37:g.17126460G>A							p.S704L	NM_001081	NP_001072	O60494	CUBN_HUMAN			17	2163	-			704					B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.2111C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.970988	0.53614	.	.	ENSG00000107611	ENST00000377833	T	0.75821	-0.97	5.69	-5.49	0.02584	.	1.230070	0.06098	N	0.664817	T	0.56321	0.1977	L	0.43646	1.37	0.80722	D	1	P	0.45428	0.858	B	0.30855	0.121	T	0.56238	-0.8012	10	0.38643	T	0.18	.	8.4656	0.32953	0.4748:0.1777:0.3475:0.0	.	704	O60494	CUBN_HUMAN	L	704	ENSP00000367064:S704L	ENSP00000367064:S704L	S	-	2	0	CUBN	17166466	0.995000	0.38212	0.004000	0.12327	0.386000	0.30323	0.870000	0.28010	-0.949000	0.03663	-0.345000	0.07892	TCG		0.502	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	Missense_Mutation	7	17	0	0	0	0	7	17				
TFAM	7019	broad.mit.edu	37	10	60148561	60148561	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr10:60148561A>T	ENST00000487519.1	+	4	949	c.423A>T	c.(421-423)aaA>aaT	p.K141N	TFAM_ENST00000373895.3_Missense_Mutation_p.K141N|TFAM_ENST00000373899.3_3'UTR	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	141					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TAAAAAGGAAAGCTATGACAA	0.264																																						uc001jkf.2		NA																	0					0						c.(421-423)AAA>AAT		transcription factor A, mitochondrial precursor							48.0	57.0	54.0					10																	60148561		2201	4298	6499	SO:0001583	missense	7019				DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr10:60148561A>T	BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.423A>T	10.37:g.60148561A>T	ENSP00000420588:p.Lys141Asn					TFAM_uc001jkg.2_RNA|TFAM_uc001jkh.2_Missense_Mutation_p.K141N	p.K141N	NM_003201	NP_003192	Q00059	TFAM_HUMAN			4	555	+			141					A8MRB2|A9QXC6|B5BU05|Q5U0C6	Missense_Mutation	SNP	ENST00000487519.1	37	c.423A>T	CCDS7253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.55|12.55	1.970973|1.970973	0.34754|0.34754	.|.	.|.	ENSG00000108064|ENSG00000108064	ENST00000487519;ENST00000373895|ENST00000395377	T;T|.	0.19250|.	2.16;2.6|.	5.53|5.53	4.39|4.39	0.52855|0.52855	High mobility group, superfamily (1);|.	0.140226|.	0.64402|.	D|.	0.000007|.	T|T	0.45856|0.45856	0.1363|0.1363	L|L	0.34521|0.34521	1.04|1.04	0.42134|0.42134	D|D	0.991485|0.991485	D;D|.	0.76494|.	0.999;0.988|.	D;P|.	0.72982|.	0.979;0.736|.	T|T	0.32955|0.32955	-0.9887|-0.9887	10|5	0.33141|.	T|.	0.24|.	.|.	8.3415|8.3415	0.32247|0.32247	0.9099:0.0:0.0901:0.0|0.9099:0.0:0.0901:0.0	.|.	141;141|.	A8MRB2;Q00059|.	.;TFAM_HUMAN|.	N|C	141|123	ENSP00000420588:K141N;ENSP00000363002:K141N|.	ENSP00000363002:K141N|.	K|S	+|+	3|1	2|0	TFAM|TFAM	59818567|59818567	0.950000|0.950000	0.32346|0.32346	0.927000|0.927000	0.36925|0.36925	0.036000|0.036000	0.12997|0.12997	1.842000|1.842000	0.39250|0.39250	1.028000|1.028000	0.39785|0.39785	0.533000|0.533000	0.62120|0.62120	AAA|AGC		0.264	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201		19	69	0	0	0	0	19	69				
DUPD1	338599	broad.mit.edu	37	10	76803647	76803647	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr10:76803647C>G	ENST00000338487.5	-	2	328	c.329G>C	c.(328-330)gGc>gCc	p.G110A		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	110	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GGCCTCCACGCCGTGGTACTG	0.637																																						uc001jwq.1		NA																	0				ovary(2)	2						c.(328-330)GGC>GCC		dual specificity phosphatase and pro isomerase							98.0	89.0	92.0					10																	76803647		2203	4300	6503	SO:0001583	missense	338599					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76803647C>G		CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.329G>C	10.37:g.76803647C>G	ENSP00000340609:p.Gly110Ala						p.G110A	NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN			2	329	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		110			Tyrosine-protein phosphatase.		B2RP93	Missense_Mutation	SNP	ENST00000338487.5	37	c.329G>C	CCDS31223.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086758	0.76642	.	.	ENSG00000188716	ENST00000338487	T	0.60040	0.22	4.93	4.93	0.64822	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.77491	0.4138	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81241	-0.1022	10	0.87932	D	0	-32.7196	18.1395	0.89634	0.0:1.0:0.0:0.0	.	110	Q68J44	DUPD1_HUMAN	A	110	ENSP00000340609:G110A	ENSP00000340609:G110A	G	-	2	0	DUPD1	76473653	1.000000	0.71417	0.977000	0.42913	0.532000	0.34746	7.468000	0.80943	2.264000	0.75181	0.650000	0.86243	GGC		0.637	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		21	69	0	0	0	0	21	69				
RRP12	23223	broad.mit.edu	37	10	99132919	99132919	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr10:99132919A>C	ENST00000370992.4	-	18	2176	c.2065T>G	c.(2065-2067)Ttt>Gtt	p.F689V	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.F589V|RRP12_ENST00000414986.1_Missense_Mutation_p.F628V|RRP12_ENST00000536831.1_Missense_Mutation_p.F407V	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	689						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		ATCGGCAGAAAGTTCTTGGCA	0.567																																						uc001knf.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2065-2067)TTT>GTT		ribosomal RNA processing 12 homolog isoform 1							58.0	60.0	60.0					10																	99132919		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99132919A>C		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2065T>G	10.37:g.99132919A>C	ENSP00000360031:p.Phe689Val					RRP12_uc009xvl.2_5'UTR|RRP12_uc009xvm.2_Missense_Mutation_p.F407V|RRP12_uc010qou.1_Missense_Mutation_p.F628V|RRP12_uc009xvn.2_Missense_Mutation_p.F589V	p.F689V	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	18	2204	-		Colorectal(252;0.162)	689					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.2065T>G	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	A	19.25	3.791483	0.70452	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.48	5.48	0.80851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77032	0.4071	M	0.78049	2.395	0.80722	D	1	D;P;D;P	0.63046	0.96;0.609;0.992;0.469	P;P;P;B	0.61003	0.568;0.465;0.882;0.223	T	0.79245	-0.1883	10	0.51188	T	0.08	-11.6245	15.5481	0.76123	1.0:0.0:0.0:0.0	.	628;589;407;689	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	V	689;589;628;407	ENSP00000360031:F689V;ENSP00000324315:F589V;ENSP00000414863:F628V;ENSP00000446184:F407V	ENSP00000324315:F589V	F	-	1	0	RRP12	99122909	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	8.925000	0.92832	2.077000	0.62373	0.260000	0.18958	TTT		0.567	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		4	74	0	0	0	0	4	74				
SORCS3	22986	broad.mit.edu	37	10	106960976	106960976	+	Silent	SNP	A	A	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr10:106960976A>C	ENST00000369701.3	+	16	2453	c.2226A>C	c.(2224-2226)tcA>tcC	p.S742S	SORCS3_ENST00000369699.4_Silent_p.S28S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	742					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGTGGTCTCAGAACCCTGTG	0.522																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	0				ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2224-2226)TCA>TCC		VPS10 domain receptor protein SORCS 3 precursor							134.0	117.0	123.0					10																	106960976		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106960976A>C	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2226A>C	10.37:g.106960976A>C						SORCS3_uc010qqz.1_RNA	p.S742S	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	16	2453	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	742			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.2226A>C	CCDS7558.1																																																																																				0.522	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		15	85	0	0	0	0	15	85				
SWAP70	23075	broad.mit.edu	37	11	9759763	9759763	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:9759763C>T	ENST00000318950.6	+	8	1187	c.1084C>T	c.(1084-1086)Ctg>Ttg	p.L362L	SWAP70_ENST00000447399.2_Silent_p.L304L	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	362					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		TGGCTAGAAACTGGAGGAAGC	0.448																																						uc001mhw.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1084-1086)CTG>TTG		SWAP-70 protein							48.0	48.0	48.0					11																	9759763		2201	4294	6495	SO:0001819	synonymous_variant	23075					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding	g.chr11:9759763C>T	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.1084C>T	11.37:g.9759763C>T						SWAP70_uc001mhv.2_Silent_p.L362L|SWAP70_uc001mhx.2_Silent_p.L304L	p.L362L	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN		all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)	8	1183	+			362			Potential.		D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Silent	SNP	ENST00000318950.6	37	c.1084C>T	CCDS31426.1																																																																																				0.448	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		11	29	0	0	0	0	11	29				
ZDHHC5	25921	broad.mit.edu	37	11	57466839	57466839	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:57466839C>T	ENST00000287169.3	+	11	3293	c.1931C>T	c.(1930-1932)cCt>cTt	p.P644L	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.P591L	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	644					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						AAAGCCCAACCTGGTGTCTCT	0.527																																						uc001nkx.1		NA																	0				skin(1)	1						c.(1930-1932)CCT>CTT		zinc finger, DHHC domain containing 5							61.0	63.0	62.0					11																	57466839		2201	4296	6497	SO:0001583	missense	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57466839C>T	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1931C>T	11.37:g.57466839C>T	ENSP00000287169:p.Pro644Leu					ZDHHC5_uc001nky.1_Missense_Mutation_p.P591L|ZDHHC5_uc001nkz.1_Missense_Mutation_p.P458L	p.P644L	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN			11	3187	+			644					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	c.1931C>T	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646872	0.47258	.	.	ENSG00000156599	ENST00000527985;ENST00000287169	T;T	0.57107	0.42;1.42	5.83	5.83	0.93111	.	4.240540	0.00166	N	0.000015	T	0.45155	0.1328	N	0.08118	0	0.40640	D	0.981938	B	0.06786	0.001	B	0.08055	0.003	T	0.07366	-1.0776	10	0.72032	D	0.01	0.3062	17.8915	0.88874	0.0:1.0:0.0:0.0	.	644	Q9C0B5	ZDHC5_HUMAN	L	591;644	ENSP00000432202:P591L;ENSP00000287169:P644L	ENSP00000287169:P644L	P	+	2	0	ZDHHC5	57223415	0.996000	0.38824	0.985000	0.45067	0.924000	0.55760	2.371000	0.44248	2.769000	0.95229	0.655000	0.94253	CCT		0.527	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		22	66	0	0	0	0	22	66				
NUDT22	84304	broad.mit.edu	37	11	63994371	63994371	+	Missense_Mutation	SNP	G	G	T	rs143695088		TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:63994371G>T	ENST00000279206.3	+	2	403	c.247G>T	c.(247-249)Ggc>Tgc	p.G83C	TRPT1_ENST00000546089.1_5'Flank|TRPT1_ENST00000540472.1_5'Flank|TRPT1_ENST00000394547.3_5'Flank|TRPT1_ENST00000546133.1_5'Flank|TRPT1_ENST00000317459.6_5'Flank|TRPT1_ENST00000394546.2_5'Flank|NUDT22_ENST00000441250.2_Missense_Mutation_p.G83C|RP11-783K16.14_ENST00000534988.1_RNA|TRPT1_ENST00000541278.1_5'Flank	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	83							hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						CCTGCGCCTGGGCCTTACTTC	0.662																																						uc001nyp.3		NA																	0					0						c.(247-249)GGC>TGC		nudix (nucleoside diphosphate linked moiety							44.0	47.0	46.0					11																	63994371		2201	4296	6497	SO:0001583	missense	84304						hydrolase activity	g.chr11:63994371G>T	BC006129	CCDS8061.1, CCDS44640.1	11q13.1	2008-02-05			ENSG00000149761	ENSG00000149761		"""Nudix motif containing"""	28189	protein-coding gene	gene with protein product						12477932	Standard	NM_032344		Approved	MGC13045	uc009ype.4	Q9BRQ3	OTTHUMG00000167791	ENST00000279206.3:c.247G>T	11.37:g.63994371G>T	ENSP00000279206:p.Gly83Cys					TRPT1_uc010rnc.1_5'Flank|TRPT1_uc010rnd.1_5'Flank|TRPT1_uc001nyn.2_5'Flank|TRPT1_uc001nyo.2_5'Flank|TRPT1_uc010rne.1_5'Flank|TRPT1_uc010rnf.1_5'Flank|NUDT22_uc009ypd.2_Missense_Mutation_p.G83C|NUDT22_uc009ype.2_Missense_Mutation_p.G83C|NUDT22_uc001nyq.3_Missense_Mutation_p.G83C|NUDT22_uc010rng.1_5'Flank	p.G83C	NM_032344	NP_115720	Q9BRQ3	NUD22_HUMAN			2	427	+			83					C9JY06|Q71RD5	Missense_Mutation	SNP	ENST00000279206.3	37	c.247G>T	CCDS8061.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503258	0.85176	.	.	ENSG00000149761	ENST00000539325;ENST00000279206;ENST00000441250;ENST00000428347;ENST00000536237	T;T;T;T	0.71103	-0.54;0.34;0.36;-0.44	4.55	4.55	0.56014	.	0.051850	0.85682	D	0.000000	D	0.84092	0.5396	M	0.78049	2.395	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.86425	0.1757	10	0.87932	D	0	-0.9284	16.6018	0.84817	0.0:0.0:1.0:0.0	.	83;83;83	Q9BRQ3-2;C9JY06;Q9BRQ3	.;.;NUD22_HUMAN	C	83	ENSP00000444022:G83C;ENSP00000279206:G83C;ENSP00000407970:G83C;ENSP00000401085:G83C	ENSP00000279206:G83C	G	+	1	0	NUDT22	63750947	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	9.009000	0.93606	2.528000	0.85240	0.491000	0.48974	GGC		0.662	NUDT22-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396304.2	NM_032344		20	75	1	0	1.64e-05	1.87e-05	20	75				
CTSF	8722	broad.mit.edu	37	11	66330375	66330375	+	IGR	SNP	G	G	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:66330375G>C	ENST00000310325.5	-	0	2035				CTD-3074O7.2_ENST00000504911.1_lincRNA|ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGCCGAGACTGACACGACTGA	0.597																																						uc001oio.1		NA																	0					0						c.(2497-2499)GAC>CAC		actinin, alpha 3							90.0	102.0	98.0					11																	66330375		2197	4295	6492	SO:0001628	intergenic_variant	89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66330375G>C	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66330375G>C						ACTN3_uc010rpi.1_RNA	p.D833H	NM_001104	NP_001095	Q08043	ACTN3_HUMAN			21	2515	+			833					B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	c.2497G>C	CCDS8144.1																																																																																				0.597	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		5	161	0	0	0	0	5	161				
LRFN4	78999	broad.mit.edu	37	11	66626406	66626406	+	Silent	SNP	C	C	T	rs200734989	byFrequency	TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:66626406C>T	ENST00000309602.4	+	1	1434	c.1191C>T	c.(1189-1191)gcC>gcT	p.A397A	PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	397						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						GCACTGCTGCCGAGGGTGAGG	0.731													C|||	4	0.000798722	0.0015	0.0029	5008	,	,		13548	0.0		0.0	False		,,,				2504	0.0					uc001ojr.2		NA																	0					0						c.(1189-1191)GCC>GCT		leucine rich repeat and fibronectin type III																																				SO:0001819	synonymous_variant	78999					integral to membrane		g.chr11:66626406C>T	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1191C>T	11.37:g.66626406C>T						PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Silent_p.A397A	p.A397A	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN			1	1531	+			397			Extracellular (Potential).		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Silent	SNP	ENST00000309602.4	37	c.1191C>T	CCDS8153.1																																																																																				0.731	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		5	57	0	0	0	0	5	57				
XRRA1	143570	broad.mit.edu	37	11	74562186	74562186	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:74562186T>G	ENST00000340360.6	-	14	1634	c.1303A>C	c.(1303-1305)Aag>Cag	p.K435Q	XRRA1_ENST00000321448.8_Missense_Mutation_p.K160Q|XRRA1_ENST00000527087.1_Missense_Mutation_p.K348Q	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TTTACTATCTTCCTTCGAATT	0.498																																						uc009yub.2		NA																	0				central_nervous_system(1)	1						c.(1303-1305)AAG>CAG		X-ray radiation resistance associated 1							82.0	81.0	81.0					11																	74562186		1893	4114	6007	SO:0001583	missense	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74562186T>G	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.1303A>C	11.37:g.74562186T>G	ENSP00000339918:p.Lys435Gln					XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovn.2_Missense_Mutation_p.K58Q|XRRA1_uc001ovo.2_Missense_Mutation_p.K43Q|XRRA1_uc001ovq.3_Missense_Mutation_p.K348Q|XRRA1_uc001ovp.3_Missense_Mutation_p.K160Q|XRRA1_uc001ovr.2_Missense_Mutation_p.K58Q|XRRA1_uc001ovs.1_Intron	p.K435Q	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN			14	1635	-			435						Missense_Mutation	SNP	ENST00000340360.6	37	c.1303A>C	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.379631	0.61845	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	T;T;T	0.63744	0.25;0.97;-0.06	5.89	3.37	0.38596	.	0.326738	0.29775	N	0.011228	T	0.76111	0.3942	M	0.73598	2.24	0.09310	N	1	D;P;D;D;D	0.89917	1.0;0.899;0.999;1.0;0.999	D;P;D;D;D	0.85130	0.973;0.766;0.961;0.997;0.961	T	0.66716	-0.5853	10	0.72032	D	0.01	-20.4026	10.7582	0.46249	0.0:0.0:0.3183:0.6817	.	435;348;379;45;421	Q6P2D8;Q6P2D8-2;Q6P2D8-4;Q8TEH2;Q6P2D8-3	XRRA1_HUMAN;.;.;.;.	Q	435;160;421;379;348	ENSP00000339918:K435Q;ENSP00000319303:K160Q;ENSP00000435838:K348Q	ENSP00000319303:K160Q	K	-	1	0	XRRA1	74239834	0.685000	0.27652	0.486000	0.27416	0.832000	0.47134	1.676000	0.37565	1.019000	0.39547	0.533000	0.62120	AAG		0.498	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		10	35	0	0	0	0	10	35				
PICALM	8301	broad.mit.edu	37	11	85712203	85712203	+	Splice_Site	SNP	T	T	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:85712203T>A	ENST00000393346.3	-	10	1042		c.e10-2		PICALM_ENST00000356360.5_Splice_Site|PICALM_ENST00000532317.1_Splice_Site|PICALM_ENST00000528398.1_Splice_Site|PICALM_ENST00000526033.1_Splice_Site			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein						axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				GTAGTTGCCCTAGGATAATTG	0.443			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	uc001pbm.2		NA		Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	MLLT10|MLL		TALL|AML|		0				urinary_tract(1)|ovary(1)	2						c.e10-1		phosphatidylinositol-binding clathrin assembly							145.0	134.0	137.0					11																	85712203		2203	4299	6502	SO:0001630	splice_region_variant	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85712203T>A	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.894-2A>T	11.37:g.85712203T>A						PICALM_uc001pbl.2_Splice_Site_p.R298_splice|PICALM_uc001pbn.2_Splice_Site_p.R298_splice|PICALM_uc010rtl.1_Splice_Site_p.R247_splice|PICALM_uc010rtk.1_Splice_Site|PICALM_uc001pbo.1_Splice_Site	p.R298_splice	NM_007166	NP_009097	Q13492	PICAL_HUMAN			10	1180	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)						B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Splice_Site	SNP	ENST00000393346.3	37	c.894_splice	CCDS8272.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.126236	0.77549	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1846	0.81942	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PICALM	85389851	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.698000	0.84413	2.229000	0.72834	0.533000	0.62120	.		0.443	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166	Intron	21	75	0	0	0	0	21	75				
PRSS23	11098	broad.mit.edu	37	11	86518800	86518800	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:86518800G>A	ENST00000280258.5	+	2	540	c.115G>A	c.(115-117)Gtc>Atc	p.V39I	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.V39I	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	39						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCGCCTCCCTGTCGTCTTGCC	0.537																																						uc001pcb.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(115-117)GTC>ATC		protease, serine, 23 precursor							110.0	107.0	108.0					11																	86518800		2201	4299	6500	SO:0001583	missense	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86518800G>A	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.115G>A	11.37:g.86518800G>A	ENSP00000280258:p.Val39Ile					PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.V39I	p.V39I	NM_007173	NP_009104	O95084	PRS23_HUMAN			2	331	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	39					B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	c.115G>A	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.242759	0.39598	.	.	ENSG00000150687	ENST00000527521;ENST00000280258;ENST00000441050	.	.	.	5.8	3.58	0.41010	.	0.345964	0.29972	N	0.010738	T	0.44030	0.1274	L	0.29908	0.895	0.44652	D	0.997633	B;B	0.10296	0.003;0.003	B;B	0.12156	0.007;0.004	T	0.29150	-1.0021	8	.	.	.	-16.0819	13.8832	0.63693	0.1455:0.0:0.8545:0.0	.	39;39	B4E2J3;O95084	.;PRS23_HUMAN	I	39	.	.	V	+	1	0	PRSS23	86196448	1.000000	0.71417	0.964000	0.40570	0.981000	0.71138	5.224000	0.65288	1.433000	0.47394	0.655000	0.94253	GTC		0.537	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173		22	87	0	0	0	0	22	87				
MMP3	4314	broad.mit.edu	37	11	102709884	102709884	+	Silent	SNP	G	G	A	rs373353289		TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:102709884G>A	ENST00000299855.5	-	7	1282	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	342					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A342A(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	CTTCATATGCGGCATCCACGC	0.378																																						uc001phj.1		NA																	1	Substitution - coding silent(1)	p.A342A(1)	lung(1)	lung(1)|kidney(1)	2						c.(1024-1026)GCC>GCT		matrix metalloproteinase 3 preproprotein	Marimastat(DB00786)|Simvastatin(DB00641)	G		0,4406		0,0,2203	90.0	96.0	94.0		1026	-2.6	0.9	11		94	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	MMP3	NM_002422.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		342/478	102709884	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102709884G>A	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.1026C>T	11.37:g.102709884G>A							p.A342A	NM_002422	NP_002413	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	7	1091	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	342			Hemopexin-like 2.		B2R8B8|Q3B7S0|Q6GRF8	Silent	SNP	ENST00000299855.5	37	c.1026C>T	CCDS8323.1																																																																																				0.378	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		21	59	0	0	0	0	21	59				
DYNC2H1	79659	broad.mit.edu	37	11	103022985	103022985	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:103022985G>T	ENST00000375735.2	+	21	3211	c.3067G>T	c.(3067-3069)Gaa>Taa	p.E1023*	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.E1023*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1023	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTTAATGATGGAAAGTCACCA	0.303																																						uc001pho.2		NA																	0					0						c.(3067-3069)GAA>TAA		dynein, cytoplasmic 2, heavy chain 1							69.0	71.0	70.0					11																	103022985		1797	4067	5864	SO:0001587	stop_gained	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103022985G>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3067G>T	11.37:g.103022985G>T	ENSP00000364887:p.Glu1023*					DYNC2H1_uc001phn.1_Nonsense_Mutation_p.E1023*|DYNC2H1_uc009yxe.1_Intron	p.E1023*	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	21	3211	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1023			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Nonsense_Mutation	SNP	ENST00000375735.2	37	c.3067G>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	41	8.990946	0.99027	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	5.75	4.79	0.61399	.	0.187326	0.32401	U	0.006146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	16.7524	0.85489	0.0:0.0:0.8706:0.1293	.	.	.	.	X	1023	.	ENSP00000364887:E1023X	E	+	1	0	DYNC2H1	102528195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.426000	0.73374	2.881000	0.98747	0.637000	0.83480	GAA		0.303	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		6	45	1	0	0.00198382	0.0021693	6	45				
NPAT	4863	broad.mit.edu	37	11	108044157	108044157	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:108044157T>A	ENST00000278612.8	-	13	1659	c.1554A>T	c.(1552-1554)gaA>gaT	p.E518D	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	518					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		CATTGTTAGCTTCACAACCAA	0.348																																						uc001pjz.3		NA																	0				ovary(2)	2						c.(1552-1554)GAA>GAT		nuclear protein,  ataxia-telangiectasia locus							87.0	82.0	83.0					11																	108044157		1834	4082	5916	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108044157T>A	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1554A>T	11.37:g.108044157T>A	ENSP00000278612:p.Glu518Asp					NPAT_uc001pka.2_Missense_Mutation_p.E313D	p.E518D	NM_002519	NP_002510	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	13	1656	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	518					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.1554A>T	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.795715	0.50208	.	.	ENSG00000149308	ENST00000278612	T	0.28255	1.62	5.91	-3.49	0.04724	.	0.805565	0.11709	N	0.537110	T	0.23611	0.0571	M	0.63428	1.95	0.09310	N	0.999999	P;P	0.45827	0.867;0.867	B;B	0.43950	0.437;0.437	T	0.14172	-1.0482	10	0.27785	T	0.31	-14.0563	0.3929	0.00413	0.2389:0.2728:0.2229:0.2654	.	518;518	B9EG70;Q14207	.;NPAT_HUMAN	D	518	ENSP00000278612:E518D	ENSP00000278612:E518D	E	-	3	2	NPAT	107549367	0.000000	0.05858	0.868000	0.34077	0.918000	0.54935	-1.003000	0.03682	-0.361000	0.08125	-0.264000	0.10439	GAA		0.348	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		19	51	0	0	0	0	19	51				
VWA5A	4013	broad.mit.edu	37	11	123993667	123993667	+	Splice_Site	SNP	G	G	A	rs200246111		TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:123993667G>A	ENST00000456829.2	+	8	1012	c.761G>A	c.(760-762)gGt>gAt	p.G254D	VWA5A_ENST00000449321.1_Splice_Site_p.G254D|VWA5A_ENST00000392748.1_Splice_Site_p.G254D|VWA5A_ENST00000392744.4_Splice_Site_p.G270D|VWA5A_ENST00000361352.5_Splice_Site_p.G254D|VWA5A_ENST00000360334.4_Splice_Site_p.G254D	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	254										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TTCTGAACAGGTCATTTGATG	0.383																																						uc001pzu.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(760-762)GGT>GAT		BCSC-1 isoform 1							69.0	70.0	69.0					11																	123993667		2201	4299	6500	SO:0001630	splice_region_variant	4013							g.chr11:123993667G>A	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.761-1G>A	11.37:g.123993667G>A						VWA5A_uc001pzr.2_Missense_Mutation_p.G254D|VWA5A_uc001pzs.2_Missense_Mutation_p.G254D|VWA5A_uc010sae.1_Missense_Mutation_p.G270D|VWA5A_uc001pzt.2_Missense_Mutation_p.G254D	p.G254D	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN			8	970	+			254					Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.761G>A	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	1.610	-0.524279	0.04141	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000524524;ENST00000530025;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.25085	3.63;1.82;3.63;2.16;2.16;2.15	5.96	2.33	0.28932	.	0.547260	0.20688	N	0.087510	T	0.07458	0.0188	N	0.01140	-0.99	0.37424	D	0.913764	B;B	0.15930	0.008;0.015	B;B	0.15870	0.014;0.013	T	0.21143	-1.0254	9	.	.	.	.	7.607	0.28107	0.7181:0.0:0.2819:0.0	.	270;254	B4DHS6;O00534	.;VMA5A_HUMAN	D	254;254;254;254;254;254;254;270	ENSP00000407726:G254D;ENSP00000353485:G254D;ENSP00000376504:G254D;ENSP00000355070:G254D;ENSP00000404683:G254D;ENSP00000376501:G270D	.	G	+	2	0	VWA5A	123498877	0.997000	0.39634	0.097000	0.21041	0.002000	0.02628	2.834000	0.48167	0.507000	0.28148	-0.140000	0.14226	GGT		0.383	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622	Missense_Mutation	4	38	0	0	0	0	4	38				
TMTC1	83857	broad.mit.edu	37	12	29659813	29659813	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr12:29659813C>T	ENST00000539277.1	-	18	2673	c.2615G>A	c.(2614-2616)cGa>cAa	p.R872Q	TMTC1_ENST00000552618.1_Missense_Mutation_p.R896Q|TMTC1_ENST00000551659.1_Missense_Mutation_p.R934Q|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000256062.5_Missense_Mutation_p.R764Q	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	872						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.R764Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTCTTGTAATCGTTTTTCTAG	0.448																																						uc001rjb.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(2290-2292)CGA>CAA		transmembrane and tetratricopeptide repeat							287.0	275.0	279.0					12																	29659813		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29659813C>T		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2615G>A	12.37:g.29659813C>T	ENSP00000442046:p.Arg872Gln					TMTC1_uc001riz.2_Missense_Mutation_p.R521Q|TMTC1_uc001rja.2_Missense_Mutation_p.R608Q|TMTC1_uc001riy.2_Missense_Mutation_p.R217Q	p.R764Q	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			18	2765	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		872					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.2291G>A	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011948	0.93346	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.68903	-0.36;-0.17;-0.36;-0.24	5.13	5.13	0.70059	.	0.054615	0.64402	D	0.000001	T	0.78078	0.4227	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	P;P;D	0.63877	0.77;0.864;0.919	T	0.80178	-0.1490	10	0.66056	D	0.02	-11.949	17.1565	0.86792	0.0:1.0:0.0:0.0	.	872;934;217	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	Q	635;764;934;896;872	ENSP00000256062:R764Q;ENSP00000448112:R934Q;ENSP00000449043:R896Q;ENSP00000442046:R872Q	ENSP00000256062:R764Q	R	-	2	0	TMTC1	29551080	1.000000	0.71417	0.683000	0.30040	0.991000	0.79684	4.758000	0.62220	2.386000	0.81285	0.650000	0.86243	CGA		0.448	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		15	143	0	0	0	0	15	143				
PMEL	6490	broad.mit.edu	37	12	56351770	56351771	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr12:56351770_56351771GG>AA	ENST00000548747.1	-	5	1229_1230	c.567_568CC>TT	c.(565-570)taCCat>taTTat	p.H190Y	PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000550464.1_Missense_Mutation_p.H104Y|PMEL_ENST00000449260.2_Missense_Mutation_p.H190Y|PMEL_ENST00000548493.1_Missense_Mutation_p.H190Y|PMEL_ENST00000536427.1_Missense_Mutation_p.H190Y|PMEL_ENST00000552882.1_Missense_Mutation_p.H190Y|PMEL_ENST00000360714.4_Missense_Mutation_p.H190Y|PMEL_ENST00000539511.1_Missense_Mutation_p.H104Y|PMEL_ENST00000550447.1_Intron			P40967	PMEL_HUMAN	premelanosome protein	190					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCCCGGCGATGGTAGACAGTCA	0.579																																						uc001sip.2		NA																	0					0						c.(565-570)TACCAT>TATTAT		silver homolog																																				SO:0001583	missense	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56351770_56351771GG>AA	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.567_568delinsAA	12.37:g.56351770_56351771delinsAA	ENSP00000448828:p.His190Tyr					SILV_uc001siq.2_Missense_Mutation_p.H190Y|SILV_uc010spx.1_Missense_Mutation_p.H104Y|SILV_uc001sir.2_Missense_Mutation_p.H190Y	p.H190Y	NM_006928	NP_008859	P40967	PMEL_HUMAN			5	598_599	-			190					B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	DNP	ENST00000548747.1	37	c.567_568CC>TT	CCDS8897.1																																																																																				0.579	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		13	71	0	0	0	0	13	71				
TRHDE	29953	broad.mit.edu	37	12	72863583	72863583	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr12:72863583G>T	ENST00000261180.4	+	4	1322	c.1226G>T	c.(1225-1227)tGg>tTg	p.W409L		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	409					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATGGAGAACTGGGGACTAAGT	0.378																																						uc001sxa.2		NA																	0				ovary(2)|skin(1)	3						c.(1225-1227)TGG>TTG		thyrotropin-releasing hormone degrading enzyme							159.0	160.0	160.0					12																	72863583		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72863583G>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1226G>T	12.37:g.72863583G>T	ENSP00000261180:p.Trp409Leu						p.W409L	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			4	1256	+			409			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1226G>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	32	5.173317	0.94807	.	.	ENSG00000072657	ENST00000261180	T	0.03272	3.99	5.87	5.87	0.94306	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.23048	-1.0199	10	0.87932	D	0	.	20.2032	0.98269	0.0:0.0:1.0:0.0	.	409	Q9UKU6	TRHDE_HUMAN	L	409	ENSP00000261180:W409L	ENSP00000261180:W409L	W	+	2	0	TRHDE	71149850	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.830000	0.99415	2.785000	0.95823	0.650000	0.86243	TGG		0.378	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		15	67	1	0	4.75e-09	5.56e-09	15	67				
DNAH10	196385	broad.mit.edu	37	12	124268652	124268652	+	Silent	SNP	C	C	T	rs547195870	byFrequency	TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr12:124268652C>T	ENST00000409039.3	+	8	1000	c.975C>T	c.(973-975)acC>acT	p.T325T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	325	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T325T(1)|p.T143T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGTGTTCACCGAGTTATTCA	0.488													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19463	0.0		0.0	False		,,,				2504	0.0					uc001uft.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(973-975)ACC>ACT		dynein, axonemal, heavy chain 10							159.0	137.0	144.0					12																	124268652		2203	4300	6503	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124268652C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.975C>T	12.37:g.124268652C>T							p.T325T	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	8	1000	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		325			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.975C>T	CCDS9255.2																																																																																				0.488	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			17	62	0	0	0	0	17	62				
EP400	57634	broad.mit.edu	37	12	132534871	132534871	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr12:132534871A>G	ENST00000333577.4	+	41	7421	c.7312A>G	c.(7312-7314)Aaa>Gaa	p.K2438E	EP400_ENST00000330386.6_Missense_Mutation_p.K2321E|EP400_ENST00000332482.4_Missense_Mutation_p.K2365E|EP400_ENST00000389562.2_Missense_Mutation_p.K2401E|EP400_ENST00000389561.2_Missense_Mutation_p.K2402E			Q96L91	EP400_HUMAN	E1A binding protein p400	2438					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ATTGCAGAGTAAAAACAACCG	0.507																																						uc001ujn.2		NA																	0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(7204-7206)AAA>GAA		E1A binding protein p400							88.0	78.0	81.0					12																	132534871		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132534871A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.7312A>G	12.37:g.132534871A>G	ENSP00000333602:p.Lys2438Glu					EP400_uc001ujl.2_Missense_Mutation_p.K2401E|EP400_uc001ujm.2_Missense_Mutation_p.K2321E	p.K2402E	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	39	7239	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2438					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.7204A>G		.	.	.	.	.	.	.	.	.	.	A	16.51	3.143895	0.57044	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.91792	-2.91;-2.9;-2.91;-2.91;-2.9	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.95796	0.8632	M	0.80183	2.485	0.41859	D	0.99021	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.80764	0.994;0.994;0.994	D	0.96120	0.9084	10	0.56958	D	0.05	.	14.1397	0.65311	1.0:0.0:0.0:0.0	.	2402;2321;2401	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	E	2438;2402;2401;2365;2321;2402	ENSP00000333602:K2438E;ENSP00000374212:K2402E;ENSP00000374213:K2401E;ENSP00000331737:K2365E;ENSP00000330620:K2321E	ENSP00000330620:K2321E	K	+	1	0	EP400	131100824	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.962000	0.93254	2.088000	0.63022	0.460000	0.39030	AAA		0.507	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		16	71	0	0	0	0	16	71				
TGDS	23483	broad.mit.edu	37	13	95230316	95230316	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr13:95230316G>T	ENST00000261296.5	-	9	888	c.768C>A	c.(766-768)aaC>aaA	p.N256K	TGDS_ENST00000498294.1_5'Flank	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	256					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TGGTTCCGATGTTATAAATTT	0.358																																						uc001vlw.2		NA																	0					0						c.(766-768)AAC>AAA		TDP-glucose 4,6-dehydratase							91.0	89.0	90.0					13																	95230316		2203	4300	6503	SO:0001583	missense	23483				cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	g.chr13:95230316G>T	AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	20324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 2E, member 1"""					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.768C>A	13.37:g.95230316G>T	ENSP00000261296:p.Asn256Lys					TGDS_uc001vlx.2_RNA	p.N256K	NM_014305	NP_055120	O95455	TGDS_HUMAN			9	889	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		256					Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Missense_Mutation	SNP	ENST00000261296.5	37	c.768C>A	CCDS9471.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253321	0.80135	.	.	ENSG00000088451	ENST00000261296	D	0.95756	-3.8	5.91	5.91	0.95273	NAD-dependent epimerase/dehydratase (1);	0.128696	0.64402	D	0.000001	D	0.98346	0.9451	H	0.99874	4.875	0.58432	D	0.999992	D	0.52996	0.957	P	0.50490	0.642	D	0.98891	1.0773	10	0.87932	D	0	.	14.4482	0.67367	0.0699:0.0:0.9301:0.0	.	256	O95455	TGDS_HUMAN	K	256	ENSP00000261296:N256K	ENSP00000261296:N256K	N	-	3	2	TGDS	94028317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.759000	0.55227	2.813000	0.96785	0.655000	0.94253	AAC		0.358	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	NM_014305		7	34	1	0	0.00198382	0.0021693	7	34				
EMC9	51016	broad.mit.edu	37	14	24610485	24610485	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr14:24610485G>C	ENST00000419198.2	-	1	309	c.29C>G	c.(28-30)gCc>gGc	p.A10G	EMC9_ENST00000216799.4_Missense_Mutation_p.A10G|EMC9_ENST00000560403.1_Intron|EMC9_ENST00000558200.1_5'UTR|PSME2_ENST00000471700.2_5'Flank|RP11-468E2.5_ENST00000558478.1_lincRNA			Q9Y3B6	EMC9_HUMAN	ER membrane protein complex subunit 9	10				ALA -> GPG (in Ref. 1; AAD34107). {ECO:0000305}.		cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)											CTTCACGTAGGCCAGGGCCGA	0.657											OREG0022618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wmi.2		NA																	0					0						c.(28-30)GCC>GGC		hypothetical protein LOC51016							76.0	72.0	73.0					14																	24610485		2203	4300	6503	SO:0001583	missense	51016							g.chr14:24610485G>C	BF346999	CCDS9613.1	14q12	2012-05-30	2012-05-30	2012-05-30	ENSG00000100908	ENSG00000100908			20273	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 122"", ""family with sequence similarity 158, member A"""	C14orf122, FAM158A		22119785	Standard	NM_016049		Approved	CGI-112	uc001wmi.3	Q9Y3B6	OTTHUMG00000028796	ENST00000419198.2:c.29C>G	14.37:g.24610485G>C	ENSP00000403210:p.Ala10Gly		OREG0022618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	772		p.A10G	NM_016049	NP_057133	Q9Y3B6	F158A_HUMAN			2	192	-			10	ALA -> GPG (in Ref. 1; AAD34107).				D3DS60|Q9BUM3	Missense_Mutation	SNP	ENST00000419198.2	37	c.29C>G	CCDS9613.1	.	.	.	.	.	.	.	.	.	.	G	35	5.456089	0.96223	.	.	ENSG00000100908	ENST00000419198;ENST00000216799	T;T	0.67345	-0.26;-0.26	6.08	6.08	0.98989	.	0.055270	0.64402	D	0.000001	D	0.83252	0.5214	M	0.90198	3.095	0.58432	D	0.999999	D	0.76494	0.999	D	0.70227	0.968	D	0.85299	0.1072	10	0.62326	D	0.03	-25.8797	11.4227	0.49991	0.0811:0.0:0.9189:0.0	.	10	Q9Y3B6	F158A_HUMAN	G	10	ENSP00000403210:A10G;ENSP00000216799:A10G	ENSP00000216799:A10G	A	-	2	0	FAM158A	23680325	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.840000	0.75369	2.894000	0.99253	0.655000	0.94253	GCC		0.657	EMC9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071917.4	NM_016049		56	68	0	0	0	0	56	68				
AHNAK2	113146	broad.mit.edu	37	14	105409742	105409742	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr14:105409742G>T	ENST00000333244.5	-	7	12165	c.12046C>A	c.(12046-12048)Ctc>Atc	p.L4016I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4016						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGAACGCTGAGGTCAGTGGCC	0.657																																						uc010axc.1		NA																	0				ovary(1)	1						c.(12046-12048)CTC>ATC		AHNAK nucleoprotein 2							121.0	126.0	124.0					14																	105409742		1988	4162	6150	SO:0001583	missense	113146					nucleus		g.chr14:105409742G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12046C>A	14.37:g.105409742G>T	ENSP00000353114:p.Leu4016Ile					AHNAK2_uc001ypx.2_Missense_Mutation_p.L3916I	p.L4016I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12166	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4016					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.12046C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	9.294	1.051402	0.19827	.	.	ENSG00000185567	ENST00000333244	T	0.01240	5.12	3.67	-3.46	0.04767	.	.	.	.	.	T	0.02494	0.0076	L	0.47078	1.49	0.09310	N	1	P	0.45283	0.855	P	0.53549	0.729	T	0.24012	-1.0172	9	0.12103	T	0.63	.	8.5443	0.33413	0.0755:0.5736:0.2521:0.0988	.	4016	Q8IVF2	AHNK2_HUMAN	I	4016	ENSP00000353114:L4016I	ENSP00000353114:L4016I	L	-	1	0	AHNAK2	104480787	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-1.608000	0.02068	-1.097000	0.03042	0.306000	0.20318	CTC		0.657	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		113	238	1	0	3.68e-61	4.46e-61	113	238				
OR4M2	390538	broad.mit.edu	37	15	22369305	22369305	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr15:22369305T>G	ENST00000332663.2	+	1	828	c.730T>G	c.(730-732)Tcc>Gcc	p.S244A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CACCTGCTATTCCCACATTAC	0.448																																						uc010tzu.1		NA																	0				ovary(1)	1						c.(730-732)TCC>GCC		olfactory receptor, family 4, subfamily M,							264.0	190.0	215.0					15																	22369305		2203	4298	6501	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369305T>G	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.730T>G	15.37:g.22369305T>G	ENSP00000329467:p.Ser244Ala					LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.S244A	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	730	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	244			Helical; Name=6; (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.730T>G	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	9.533	1.111266	0.20714	.	.	ENSG00000182974	ENST00000332663	T	0.38887	1.11	2.28	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000152	T	0.32376	0.0827	L	0.39085	1.19	0.29035	N	0.885456	P	0.46784	0.884	P	0.47251	0.542	T	0.13361	-1.0512	10	0.11182	T	0.66	-18.288	8.1829	0.31322	0.0:0.0:0.0:1.0	.	244	Q8NGB6	OR4M2_HUMAN	A	244	ENSP00000329467:S244A	ENSP00000329467:S244A	S	+	1	0	OR4M2	19870669	0.511000	0.26179	1.000000	0.80357	0.995000	0.86356	2.065000	0.41442	1.068000	0.40764	0.368000	0.22195	TCC		0.448	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			19	136	0	0	0	0	19	136				
ZWILCH	55055	broad.mit.edu	37	15	66828269	66828269	+	Splice_Site	SNP	A	A	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr15:66828269A>T	ENST00000307897.5	+	15	1721		c.e15-1		ZWILCH_ENST00000535141.2_Splice_Site|ZWILCH_ENST00000565627.1_Splice_Site|ZWILCH_ENST00000446801.2_Splice_Site	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TTTTCATTCCAGGAATACTTC	0.343																																						uc002aqb.2		NA																	0				ovary(1)	1						c.e15-2		Zwilch							102.0	95.0	97.0					15																	66828269		2201	4294	6495	SO:0001630	splice_region_variant	55055				cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	g.chr15:66828269A>T	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.1342-1A>T	15.37:g.66828269A>T						ZWILCH_uc010bhu.1_Splice_Site_p.E334_splice|ZWILCH_uc002aqa.2_Splice_Site_p.E334_splice|ZWILCH_uc010bhv.2_Splice_Site_p.E334_splice	p.E448_splice	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN			15	1588	+								B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Splice_Site	SNP	ENST00000307897.5	37	c.1342_splice	CCDS10219.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.302586	0.81136	.	.	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6584	0.77162	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZWILCH	64615323	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.893000	0.75649	2.169000	0.68431	0.459000	0.35465	.		0.343	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975	Intron	4	50	0	0	0	0	4	50				
MAP2K5	5607	broad.mit.edu	37	15	67995696	67995696	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr15:67995696C>A	ENST00000178640.5	+	16	1621	c.994C>A	c.(994-996)Cag>Aag	p.Q332K	MAP2K5_ENST00000340972.4_Missense_Mutation_p.Q142K|MAP2K5_ENST00000395476.2_Missense_Mutation_p.Q332K|MAP2K5_ENST00000354498.5_Missense_Mutation_p.Q296K	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	332	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TTCAGGGGAGCAGTATGGAAT	0.423																																						uc002aqu.2		NA																	0				lung(2)	2						c.(994-996)CAG>AAG		mitogen-activated protein kinase kinase 5							140.0	134.0	136.0					15																	67995696		2200	4298	6498	SO:0001583	missense	5607				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:67995696C>A	U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.994C>A	15.37:g.67995696C>A	ENSP00000178640:p.Gln332Lys					MAP2K5_uc002aqv.2_Missense_Mutation_p.Q332K|MAP2K5_uc002aqw.2_Missense_Mutation_p.Q172K|MAP2K5_uc002aqx.2_Missense_Mutation_p.Q142K	p.Q332K	NM_145160	NP_660143	Q13163	MP2K5_HUMAN			16	1647	+			332			Protein kinase.		B4DE43|Q92961|Q92962	Missense_Mutation	SNP	ENST00000178640.5	37	c.994C>A	CCDS10224.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735857	0.49045	.	.	ENSG00000137764	ENST00000541298;ENST00000395476;ENST00000178640;ENST00000354498;ENST00000340972	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.96	5.96	0.96718	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.40595	0.1123	N	0.11651	0.15	0.80722	D	1	P;P;P	0.38922	0.514;0.599;0.651	B;B;B	0.32342	0.144;0.101;0.094	T	0.44862	-0.9300	10	0.06891	T	0.86	-15.8112	20.4084	0.99013	0.0:1.0:0.0:0.0	.	142;332;332	A6NK28;Q13163-2;Q13163	.;.;MP2K5_HUMAN	K	332;332;332;296;142	ENSP00000378859:Q332K;ENSP00000178640:Q332K;ENSP00000346493:Q296K;ENSP00000342101:Q142K	ENSP00000178640:Q332K	Q	+	1	0	MAP2K5	65782750	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.035000	0.76517	2.833000	0.97629	0.650000	0.86243	CAG		0.423	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257041.1	NM_145162		22	91	1	0	1.11e-09	1.3e-09	22	91				
CACNA1H	8912	broad.mit.edu	37	16	1260937	1260937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr16:1260937G>A	ENST00000348261.5	+	21	4437	c.4189G>A	c.(4189-4191)Gtg>Atg	p.V1397M	CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1397M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1397M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1397					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TGTTCTGCGCGTGCTGCGTCT	0.682																																						uc002cks.2		NA																	0				breast(2)	2						c.(4189-4191)GTG>ATG		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Mibefradil(DB01388)						92.0	108.0	103.0					16																	1260937		2191	4276	6467	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1260937G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4189G>A	16.37:g.1260937G>A	ENSP00000334198:p.Val1397Met					CACNA1H_uc002ckt.2_Missense_Mutation_p.V1397M|CACNA1H_uc002cku.2_Missense_Mutation_p.V103M|CACNA1H_uc010brj.2_Missense_Mutation_p.V103M|CACNA1H_uc002ckv.2_Missense_Mutation_p.V103M	p.V1397M	NM_021098	NP_066921	O95180	CAC1H_HUMAN			21	4437	+		Hepatocellular(780;0.00369)	1397			III.|Helical; Name=S4 of repeat III; (Potential).		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.4189G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871832	0.72180	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98807	-5.15;-5.15	4.25	4.25	0.50352	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99158	0.9709	M	0.87827	2.91	0.54753	D	0.999984	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.997;0.996;0.999	D	0.99133	1.0853	10	0.87932	D	0	.	16.1494	0.81602	0.0:0.0:1.0:0.0	.	138;138;138;1397;1397	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	M	1397	ENSP00000334198:V1397M;ENSP00000351401:V1397M	ENSP00000334198:V1397M	V	+	1	0	CACNA1H	1200938	1.000000	0.71417	0.996000	0.52242	0.317000	0.28152	9.441000	0.97557	2.367000	0.80283	0.591000	0.81541	GTG		0.682	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		39	141	0	0	0	0	39	141				
SEZ6L2	26470	broad.mit.edu	37	16	29884953	29884953	+	Silent	SNP	C	C	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr16:29884953C>A	ENST00000308713.5	-	13	2729	c.2202G>T	c.(2200-2202)ctG>ctT	p.L734L	SEZ6L2_ENST00000537485.1_Silent_p.L690L|SEZ6L2_ENST00000346932.5_Silent_p.L620L|SEZ6L2_ENST00000350527.3_Silent_p.L664L	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	734	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTACCCTGGCAGGCAGCGGT	0.657																																						uc002duq.3		NA																	0				ovary(1)|skin(1)	2						c.(2200-2202)CTG>CTT		seizure related 6 homolog (mouse)-like 2 isoform							40.0	38.0	39.0					16																	29884953		2197	4300	6497	SO:0001819	synonymous_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29884953C>A	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2202G>T	16.37:g.29884953C>A						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Silent_p.L664L|SEZ6L2_uc002dur.3_Silent_p.L664L|SEZ6L2_uc002dus.3_Silent_p.L620L|SEZ6L2_uc010vec.1_Silent_p.L734L|SEZ6L2_uc010ved.1_Silent_p.L690L	p.L734L	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			13	2442	-			734			Sushi 4.|Extracellular (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Silent	SNP	ENST00000308713.5	37	c.2202G>T	CCDS10659.1																																																																																				0.657	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		6	45	1	0	0.00116845	0.00128816	6	45				
TP53	7157	broad.mit.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr17:7578235T>C	ENST00000269305.4	-	6	803	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	TP53_ENST00000359597.4_Missense_Mutation_p.Y205C|TP53_ENST00000413465.2_Missense_Mutation_p.Y205C|TP53_ENST00000455263.2_Missense_Mutation_p.Y205C|TP53_ENST00000445888.2_Missense_Mutation_p.Y205C|TP53_ENST00000420246.2_Missense_Mutation_p.Y205C|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCATCCAAATACTCCACACG	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		117	Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)|Deletion - Frameshift(1)	p.Y205C(55)|p.Y205D(13)|p.Y205S(11)|p.Y205F(8)|p.0?(7)|p.Y205H(5)|p.Y205*(4)|p.Y205N(2)|p.K164_P219del(1)|p.Y205fs*42(1)|p.Y112C(1)|p.Y205fs*43(1)|p.E204fs*39(1)|p.Y73C(1)|p.E204_N210delEYLDDRN(1)	lung(20)|upper_aerodigestive_tract(19)|central_nervous_system(10)|large_intestine(9)|biliary_tract(8)|breast(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|urinary_tract(5)|bone(5)|soft_tissue(4)|oesophagus(4)|stomach(3)|liver(3)|pancreas(2)|vulva(1)|skin(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(613-615)TAT>TGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							136.0	121.0	126.0					17																	7578235		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578235T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.614A>G	17.37:g.7578235T>C	ENSP00000269305:p.Tyr205Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.Y205C|TP53_uc002gih.2_Missense_Mutation_p.Y205C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y73C|TP53_uc010cng.1_Missense_Mutation_p.Y73C|TP53_uc002gii.1_Missense_Mutation_p.Y73C|TP53_uc010cnh.1_Missense_Mutation_p.Y205C|TP53_uc010cni.1_Missense_Mutation_p.Y205C|TP53_uc002gij.2_Missense_Mutation_p.Y205C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y112C|TP53_uc002gio.2_Missense_Mutation_p.Y73C|TP53_uc010vug.1_Missense_Mutation_p.Y166C	p.Y205C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	808	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	205		Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.614A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490024	0.64074	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88906	2.99	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.995;0.998;0.995;0.997;0.999;0.997;0.996	D	0.97320	0.9943	10	0.87932	D	0	-5.8058	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205C;ENSP00000352610:Y205C;ENSP00000269305:Y205C;ENSP00000398846:Y205C;ENSP00000391127:Y205C;ENSP00000391478:Y205C;ENSP00000425104:Y73C;ENSP00000423862:Y112C	ENSP00000269305:Y205C	Y	-	2	0	TP53	7518960	1.000000	0.71417	0.137000	0.22149	0.045000	0.14185	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	TAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	26	0	0	0	0	20	26				
MBTD1	54799	broad.mit.edu	37	17	49270365	49270365	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr17:49270365G>C	ENST00000586178.1	-	15	1811	c.1468C>G	c.(1468-1470)Cac>Gac	p.H490D	MBTD1_ENST00000415868.1_Missense_Mutation_p.H490D|MBTD1_ENST00000376381.2_3'UTR	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	490					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CGAAATCCGTGATTTGGAACA	0.378																																						uc002itr.3		NA																	0				ovary(2)	2						c.(1468-1470)CAC>GAC		mbt domain containing 1							132.0	130.0	131.0					17																	49270365		2203	4300	6503	SO:0001583	missense	54799				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr17:49270365G>C	AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1468C>G	17.37:g.49270365G>C	ENSP00000468304:p.His490Asp					MBTD1_uc002itp.3_Missense_Mutation_p.H326D|MBTD1_uc002itq.3_3'UTR	p.H490D	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		15	1812	-			490			MBT 4.		Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	ENST00000586178.1	37	c.1468C>G	CCDS11581.2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759360	0.89932	.	.	ENSG00000011258	ENST00000405860;ENST00000415868	T	0.46451	0.87	5.89	5.89	0.94794	.	0.093076	0.64402	D	0.000001	T	0.66025	0.2748	M	0.72479	2.2	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.71184	0.966;0.972	T	0.65154	-0.6237	10	0.56958	D	0.05	.	20.2435	0.98387	0.0:0.0:1.0:0.0	.	490;326	Q05BQ5;Q05BQ5-3	MBTD1_HUMAN;.	D	490	ENSP00000403946:H490D	ENSP00000386072:H490D	H	-	1	0	MBTD1	46625364	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.813000	0.99286	2.784000	0.95788	0.650000	0.86243	CAC		0.378	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1			20	99	0	0	0	0	20	99				
ANKFN1	162282	broad.mit.edu	37	17	54428211	54428211	+	Silent	SNP	C	C	T	rs201436645		TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr17:54428211C>T	ENST00000318698.2	+	4	317	c.282C>T	c.(280-282)aaC>aaT	p.N94N	ANKFN1_ENST00000566473.2_Silent_p.N94N	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	94										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CATCTCCCAACGCAGCCAAAC	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16780	0.0		0.0	False		,,,				2504	0.0					uc002iun.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(280-282)AAC>AAT		ankyrin-repeat and fibronectin type III domain							94.0	93.0	93.0					17																	54428211		2203	4300	6503	SO:0001819	synonymous_variant	162282							g.chr17:54428211C>T	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.282C>T	17.37:g.54428211C>T							p.N94N	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			4	317	+			94						Silent	SNP	ENST00000318698.2	37	c.282C>T	CCDS32686.1																																																																																				0.448	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		9	45	0	0	0	0	9	45				
ABCA5	23461	broad.mit.edu	37	17	67270205	67270205	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr17:67270205T>C	ENST00000392676.3	-	20	2723	c.2659A>G	c.(2659-2661)Aaa>Gaa	p.K887E	ABCA5_ENST00000392677.2_Missense_Mutation_p.K887E|ABCA5_ENST00000588877.1_Missense_Mutation_p.K887E			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	887					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	ACAGCATTTTTAAAAGAGTGA	0.323																																						uc002jif.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2659-2661)AAA>GAA		ATP-binding cassette, sub-family A , member 5							78.0	81.0	80.0					17																	67270205		2203	4300	6503	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67270205T>C	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.2659A>G	17.37:g.67270205T>C	ENSP00000376443:p.Lys887Glu					ABCA5_uc002jic.2_Missense_Mutation_p.K110E|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.K887E|ABCA5_uc002jih.2_Missense_Mutation_p.K887E|ABCA5_uc010dfe.2_Missense_Mutation_p.K887E	p.K887E	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN			19	3877	-	Breast(10;3.72e-11)		887					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.2659A>G	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.296710	0.60086	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.86769	-2.17;-2.17	5.62	5.62	0.85841	.	0.197021	0.36740	N	0.002439	T	0.77725	0.4173	N	0.08118	0	0.41782	D	0.989829	P;P	0.41498	0.459;0.752	B;B	0.42462	0.173;0.388	T	0.78097	-0.2337	9	.	.	.	.	15.7864	0.78306	0.0:0.0:0.0:1.0	.	887;887	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	E	887	ENSP00000376444:K887E;ENSP00000376443:K887E	.	K	-	1	0	ABCA5	64781800	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.764000	0.55264	2.267000	0.75376	0.477000	0.44152	AAA		0.323	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		13	48	0	0	0	0	13	48				
KCTD2	23510	broad.mit.edu	37	17	73059132	73059132	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr17:73059132C>T	ENST00000322444.6	+	6	788	c.782C>T	c.(781-783)tCg>tTg	p.S261L	KCTD2_ENST00000581589.1_Missense_Mutation_p.S62L	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	261					protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)			kidney(1)|lung(2)	3	all_lung(278;0.226)					GAGAGAGGATCGCGGATGTAA	0.552																																						uc002jmp.2		NA																	0					0						c.(781-783)TCG>TTG		potassium channel tetramerisation domain							79.0	66.0	71.0					17																	73059132		2203	4300	6503	SO:0001583	missense	23510					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:73059132C>T	BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"""potassium channel tetramerisation domain containing 2"""			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.782C>T	17.37:g.73059132C>T	ENSP00000312814:p.Ser261Leu					KCTD2_uc010dfz.2_RNA|KCTD2_uc002jmq.2_RNA	p.S261L	NM_015353	NP_056168	Q14681	KCTD2_HUMAN			6	849	+	all_lung(278;0.226)		261						Missense_Mutation	SNP	ENST00000322444.6	37	c.782C>T	CCDS32728.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840461	0.71488	.	.	ENSG00000180901	ENST00000322444;ENST00000375286	T	0.76839	-1.05	4.73	4.73	0.59995	.	0.249082	0.41938	D	0.000798	T	0.68842	0.3045	L	0.29908	0.895	0.80722	D	1	B	0.22851	0.076	B	0.17433	0.018	T	0.68047	-0.5512	10	0.62326	D	0.03	.	16.4373	0.83880	0.0:1.0:0.0:0.0	.	261	Q14681	KCTD2_HUMAN	L	261;243	ENSP00000312814:S261L	ENSP00000312814:S261L	S	+	2	0	KCTD2	70570727	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.070000	0.76763	2.607000	0.88179	0.655000	0.94253	TCG		0.552	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445538.1			4	21	0	0	0	0	4	21				
CASKIN2	57513	broad.mit.edu	37	17	73500710	73500710	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr17:73500710C>T	ENST00000321617.3	-	12	1843	c.1257G>A	c.(1255-1257)ggG>ggA	p.G419G	CASKIN2_ENST00000433559.2_Silent_p.G337G	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	419						cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGAGCTCTGCCCGCTGCCGG	0.642																																						uc002joc.2		NA																	0				pancreas(1)	1						c.(1255-1257)GGG>GGA		cask-interacting protein 2 isoform a							27.0	24.0	25.0					17																	73500710		2202	4299	6501	SO:0001819	synonymous_variant	57513					cytoplasm		g.chr17:73500710C>T	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.1257G>A	17.37:g.73500710C>T						CASKIN2_uc010wsc.1_Silent_p.G337G	p.G419G	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		12	1807	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		419					B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	c.1257G>A	CCDS11723.1																																																																																				0.642	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		3	22	0	0	0	0	3	22				
MC2R	4158	broad.mit.edu	37	18	13885391	13885391	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr18:13885391G>A	ENST00000327606.3	-	2	307	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	43					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGGACGATCAGATTCTCCAAA	0.428																																					Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1		NA																	0				ovary(4)|skin(1)	5						c.(127-129)CTG>TTG		melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)						109.0	98.0	102.0					18																	13885391		2203	4300	6503	SO:0001819	synonymous_variant	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885391G>A		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.127C>T	18.37:g.13885391G>A							p.L43L	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			2	304	-			43			Helical; Name=1; (By similarity).		A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	c.127C>T	CCDS11869.1																																																																																				0.428	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			11	30	0	0	0	0	11	30				
YIPF2	78992	broad.mit.edu	37	19	11038315	11038315	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr19:11038315G>A	ENST00000586748.1	-	4	442	c.270C>T	c.(268-270)gaC>gaT	p.D90D	YIPF2_ENST00000253031.2_Silent_p.D90D|C19orf52_ENST00000270502.6_5'Flank|YIPF2_ENST00000590329.1_Silent_p.D90D			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	90						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CCTGTGAGGTGTCCACGTCAA	0.602																																						uc002mqb.2		NA																	0					0						c.(268-270)GAC>GAT		Yip1 domain family, member 2							101.0	88.0	93.0					19																	11038315		2203	4300	6503	SO:0001819	synonymous_variant	78992					integral to membrane|transport vesicle		g.chr19:11038315G>A	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"""Yip1 domain family"""	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.270C>T	19.37:g.11038315G>A						YIPF2_uc002mqc.2_Silent_p.D90D|C19orf52_uc002mqd.1_5'Flank	p.D90D	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN			4	394	-			90			Cytoplasmic (Potential).			Silent	SNP	ENST00000586748.1	37	c.270C>T	CCDS12251.1																																																																																				0.602	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		7	40	0	0	0	0	7	40				
ZNF284	342909	broad.mit.edu	37	19	44590486	44590486	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr19:44590486G>A	ENST00000421176.3	+	5	1071	c.855G>A	c.(853-855)aaG>aaA	p.K285K	ZNF223_ENST00000591793.1_3'UTR|RNU6-902P_ENST00000517212.1_RNA	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				CTGGGGAGAAGCCATTCAAAT	0.393																																						uc002oyg.1		NA																	0					0						c.(853-855)AAG>AAA		zinc finger protein 284							83.0	89.0	87.0					19																	44590486		2170	4291	6461	SO:0001819	synonymous_variant	342909				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44590486G>A	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.855G>A	19.37:g.44590486G>A						ZNF284_uc010ejd.2_RNA	p.K285K	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN			5	1071	+		Prostate(69;0.0435)	285					Q86WM1	Silent	SNP	ENST00000421176.3	37	c.855G>A	CCDS46099.1																																																																																				0.393	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813		23	72	0	0	0	0	23	72				
CEACAM18	729767	broad.mit.edu	37	19	51986513	51986513	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr19:51986513A>T	ENST00000396477.4	+	4	937	c.916A>T	c.(916-918)Atc>Ttc	p.I306F	CEACAM18_ENST00000451626.1_Missense_Mutation_p.I367F	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	306	Ig-like C2-type.									breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GACACAGCTGATCATGTACAT	0.582																																						uc002pwv.1		NA																	0				skin(1)	1						c.(1099-1101)ATC>TTC		carcinoembryonic antigen-related cell adhesion							84.0	85.0	85.0					19																	51986513		2105	4230	6335	SO:0001583	missense	729767					integral to membrane		g.chr19:51986513A>T			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.916A>T	19.37:g.51986513A>T	ENSP00000379738:p.Ile306Phe						p.I367F	NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	5	1099	+		all_neural(266;0.0529)	367			Ig-like C2-type.		C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37	c.1099A>T		.	.	.	.	.	.	.	.	.	.	.	8.894	0.954617	0.18431	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.42131	0.98	2.53	-1.03	0.10102	Immunoglobulin-like (1);	.	.	.	.	T	0.18718	0.0449	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.17531	-1.0366	9	0.59425	D	0.04	.	2.2131	0.03953	0.4794:0.0:0.2906:0.23	.	367	A8MTB9	CEA18_HUMAN	F	367;306;306	ENSP00000402203:I367F	ENSP00000379738:I306F	I	+	1	0	CEACAM18	56678325	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	-0.037000	0.12164	-0.306000	0.08818	0.374000	0.22700	ATC		0.582	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			22	57	0	0	0	0	22	57				
LENG8	114823	broad.mit.edu	37	19	54965698	54965698	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr19:54965698C>T	ENST00000326764.5	+	6	995	c.516C>T	c.(514-516)ccC>ccT	p.P172P	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	135										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CCTCAAATCCCCCACATGGGG	0.687																																						uc002qfv.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(403-405)CCC>CCT		RecName: Full=Leukocyte receptor cluster member 8;							25.0	27.0	26.0					19																	54965698		2203	4300	6503	SO:0001819	synonymous_variant	114823						protein binding	g.chr19:54965698C>T	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.516C>T	19.37:g.54965698C>T						LENG8_uc002qfw.2_Silent_p.P172P	p.P135P			Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	5	549	+	Ovarian(34;0.19)		135					B0VJY9|Q8IZ27|Q8NCX6	Silent	SNP	ENST00000326764.5	37	c.405C>T	CCDS12894.1																																																																																				0.687	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		4	24	0	0	0	0	4	24				
ZNF628	89887	broad.mit.edu	37	19	55995170	55995170	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr19:55995170G>A	ENST00000598519.1	+	3	3163	c.2610G>A	c.(2608-2610)gtG>gtA	p.V870V	NAT14_ENST00000587400.1_5'Flank|ZNF628_ENST00000391718.2_Silent_p.V866V|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000205194.4_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	870					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TCCAGCCCGTGGCCGGCCAGC	0.647																																						uc002qld.2		NA																	0					0						c.(2596-2598)GTG>GTA		zinc finger protein 628							31.0	36.0	34.0					19																	55995170		2202	4299	6501	SO:0001819	synonymous_variant	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55995170G>A	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.2610G>A	19.37:g.55995170G>A						NAT14_uc002qle.1_5'Flank	p.V866V	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	3163	+	Breast(117;0.155)		866					Q86X34	Silent	SNP	ENST00000598519.1	37	c.2598G>A	CCDS33116.3																																																																																				0.647	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		6	42	0	0	0	0	6	42				
ZNF154	7710	broad.mit.edu	37	19	58213526	58213526	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr19:58213526C>T	ENST00000512439.2	-	3	987	c.791G>A	c.(790-792)cGg>cAg	p.R264Q	AC003006.7_ENST00000599221.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.R264Q|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGAACTCCCCGATGTTGAAG	0.453																																						uc010euf.2		NA																	0					0						c.(790-792)CGG>CAG		zinc finger protein 154							90.0	93.0	92.0					19																	58213526		2202	4297	6499	SO:0001583	missense	7710					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58213526C>T	U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"""Zinc fingers, C2H2-type"", ""-"""	12939	protein-coding gene	gene with protein product		604085	"""zinc finger protein 154 (pHZ-92)"""			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.791G>A	19.37:g.58213526C>T	ENSP00000421258:p.Arg264Gln					ZNF776_uc002qpx.2_Intron|ZNF154_uc002qpy.2_RNA	p.R264Q	NM_001085384	NP_001078853	Q13106	ZN154_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1031	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	264			C2H2-type 6.		A7MCY3|Q8IVG7|Q8NAR0	Missense_Mutation	SNP	ENST00000512439.2	37	c.791G>A	CCDS42639.1	.	.	.	.	.	.	.	.	.	.	C	0.067	-1.210400	0.01555	.	.	ENSG00000179909	ENST00000512439;ENST00000426889;ENST00000396157	T;T	0.17691	2.26;2.26	2.82	-5.64	0.02466	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03915	0.0110	N	0.02315	-0.6	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.31668	-0.9935	9	0.02654	T	1	.	4.5175	0.11943	0.2704:0.4114:0.0:0.3182	.	264	Q13106	ZN154_HUMAN	Q	264;264;79	ENSP00000421258:R264Q;ENSP00000442370:R264Q	ENSP00000440907:R79Q	R	-	2	0	ZNF154	62905338	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	-1.608000	0.02068	-1.831000	0.01198	-0.367000	0.07326	CGG		0.453	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277102.2			23	90	0	0	0	0	23	90				
ZNF512	84450	broad.mit.edu	37	2	27822849	27822849	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr2:27822849G>A	ENST00000355467.4	+	5	469	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	ZNF512_ENST00000379717.1_Missense_Mutation_p.R128Q|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_Intron|ZNF512_ENST00000413371.2_Missense_Mutation_p.R52Q|ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000556601.1_Missense_Mutation_p.G40S	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	129					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AGGAAGCAACGGCCTAAAACT	0.473																																						uc002rla.2		NA																	0				ovary(1)	1						c.(385-387)CGG>CAG		zinc finger protein 512							124.0	107.0	113.0					2																	27822849		2203	4300	6503	SO:0001583	missense	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27822849G>A	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.386G>A	2.37:g.27822849G>A	ENSP00000347648:p.Arg129Gln					ZNF512_uc010ylv.1_Missense_Mutation_p.R50Q|ZNF512_uc010ylw.1_Intron|ZNF512_uc002rlb.2_Missense_Mutation_p.R50Q|ZNF512_uc010ylx.1_Missense_Mutation_p.R50Q|ZNF512_uc002rlc.2_Missense_Mutation_p.R50Q|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_Intron	p.R129Q	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN			5	473	+	Acute lymphoblastic leukemia(172;0.155)		129					B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Missense_Mutation	SNP	ENST00000355467.4	37	c.386G>A	CCDS1758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.44|17.44	3.390643|3.390643	0.62066|0.62066	.|.	.|.	ENSG00000243943|ENSG00000243943	ENST00000556601|ENST00000379717;ENST00000355467;ENST00000413371	.|.	.|.	.|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.092424	.|0.48286	.|D	.|0.000196	T|T	0.20373|0.20373	0.0490|0.0490	L|L	0.29908|0.29908	0.895|0.895	0.24510|0.24510	N|N	0.994212|0.994212	.|P	.|0.39181	.|0.663	.|B	.|0.20184	.|0.028	T|T	0.24225|0.24225	-1.0166|-1.0166	5|9	.|0.26408	.|T	.|0.33	-19.2832|-19.2832	11.4907|11.4907	0.50379|0.50379	0.0819:0.0:0.9181:0.0|0.0819:0.0:0.9181:0.0	.|.	.|129	.|Q96ME7	.|ZN512_HUMAN	S|Q	40|128;129;52	.|.	.|ENSP00000347648:R129Q	G|R	+|+	1|2	0|0	ZNF512|ZNF512	27676353|27676353	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.568000|2.568000	0.45965|0.45965	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.473	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434		6	18	0	0	0	0	6	18				
NEB	4703	broad.mit.edu	37	2	152375496	152375496	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr2:152375496T>G	ENST00000172853.10	-	127	17722	c.17575A>C	c.(17575-17577)Agc>Cgc	p.S5859R	NEB_ENST00000427231.2_Missense_Mutation_p.S7560R|NEB_ENST00000397345.3_Missense_Mutation_p.S7560R|NEB_ENST00000603639.1_Missense_Mutation_p.S7560R|NEB_ENST00000409198.1_Missense_Mutation_p.S5859R|NEB_ENST00000604864.1_Missense_Mutation_p.S7560R			P20929	NEBU_HUMAN	nebulin	5859					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCAAGTTGGCTTGTATTCAGG	0.423																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(17575-17577)AGC>CGC		nebulin isoform 3							137.0	128.0	131.0					2																	152375496		1901	4117	6018	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152375496T>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17575A>C	2.37:g.152375496T>G	ENSP00000172853:p.Ser5859Arg					NEB_uc002txr.2_Missense_Mutation_p.S2282R|NEB_uc002txt.3_Missense_Mutation_p.S364R	p.S5859R	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	127	17766	-			5859			Nebulin 160.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.17575A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.8|23.8	4.454121|4.454121	0.84209|0.84209	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.|T;T;T;T;T	.|0.49720	.|1.41;1.41;1.41;0.77;1.41	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.070395	.|0.85682	.|D	.|0.000000	T|T	0.68183|0.68183	0.2973|0.2973	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.968;0.999	.|D;D;D	.|0.87578	.|0.998;0.938;0.997	T|T	0.70710|0.70710	-0.4797|-0.4797	5|10	.|0.52906	.|T	.|0.07	.|.	12.3299|12.3299	0.55033|0.55033	0.0:0.067:0.0:0.933|0.0:0.067:0.0:0.933	.|.	.|5859;7560;2290	.|P20929;F8WCP0;Q14215	.|NEBU_HUMAN;.;.	H|R	182|5859;7560;7560;1908;2290;5859	.|ENSP00000386259:S5859R;ENSP00000380505:S7560R;ENSP00000416578:S7560R;ENSP00000410961:S2290R;ENSP00000172853:S5859R	.|ENSP00000172853:S5859R	Q|S	-|-	3|1	2|0	NEB|NEB	152083742|152083742	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.990000|0.990000	0.78478|0.78478	8.040000|8.040000	0.89188|0.89188	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	CAA|AGC		0.423	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		5	32	0	0	0	0	5	32				
XIRP2	129446	broad.mit.edu	37	2	168106357	168106357	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr2:168106357G>A	ENST00000409195.1	+	9	8544	c.8455G>A	c.(8455-8457)Gaa>Aaa	p.E2819K	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2819K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2597K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2644					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCCAGGAAGTGAAGAAAAAAA	0.393																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(8455-8457)GAA>AAA		xin actin-binding repeat containing 2 isoform 1							73.0	72.0	72.0					2																	168106357		1835	4092	5927	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106357G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8455G>A	2.37:g.168106357G>A	ENSP00000386840:p.Glu2819Lys					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E2644K|XIRP2_uc010fpq.2_Missense_Mutation_p.E2597K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.E165K	p.E2819K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8473	+			2644					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8455G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484412	0.26598	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02345	4.33;4.33;4.33	5.78	3.95	0.45737	.	0.376237	0.30277	N	0.009989	T	0.03739	0.0106	M	0.63428	1.95	0.09310	N	1	B;B;B	0.23806	0.055;0.091;0.091	B;B;B	0.17433	0.008;0.018;0.018	T	0.34976	-0.9807	10	0.27082	T	0.32	-10.6336	7.5176	0.27610	0.1686:0.1732:0.6582:0.0	.	2644;2644;2597	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	2819;2819;2597;233	ENSP00000386840:E2819K;ENSP00000295237:E2819K;ENSP00000387255:E2597K	ENSP00000295237:E2819K	E	+	1	0	XIRP2	167814603	0.011000	0.17503	0.273000	0.24645	0.294000	0.27393	0.900000	0.28431	1.463000	0.47967	0.655000	0.94253	GAA		0.393	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		8	32	0	0	0	0	8	32				
TLK1	9874	broad.mit.edu	37	2	171906348	171906348	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr2:171906348C>G	ENST00000431350.2	-	10	1360	c.956G>C	c.(955-957)gGt>gCt	p.G319A	TLK1_ENST00000521943.1_Missense_Mutation_p.G271A|TLK1_ENST00000434911.2_Missense_Mutation_p.G223A|TLK1_ENST00000442919.2_Missense_Mutation_p.G271A|TLK1_ENST00000360843.3_Missense_Mutation_p.G340A			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	319					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AAATGCAAAACCATCTGTCCA	0.348																																						uc002ugn.2		NA																	0				central_nervous_system(1)	1						c.(955-957)GGT>GCT		tousled-like kinase 1 isoform 1							121.0	115.0	117.0					2																	171906348		2203	4300	6503	SO:0001583	missense	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171906348C>G	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.956G>C	2.37:g.171906348C>G	ENSP00000411099:p.Gly319Ala					TLK1_uc002ugo.2_Missense_Mutation_p.G340A|TLK1_uc002ugp.2_Missense_Mutation_p.G271A|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Missense_Mutation_p.G223A|TLK1_uc002ugr.1_Missense_Mutation_p.G102A	p.G319A	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN			10	1428	-			319					B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	c.956G>C	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	C	32	5.169144	0.94768	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.77750	-1.04;-1.12;-0.94;-1.04;-0.86	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.90621	0.7059	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.91373	0.5121	10	0.87932	D	0	-34.2216	20.27	0.98469	0.0:1.0:0.0:0.0	.	223;340;319	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	A	271;319;340;271;223	ENSP00000402165:G271A;ENSP00000411099:G319A;ENSP00000354089:G340A;ENSP00000428113:G271A;ENSP00000409222:G223A	ENSP00000354089:G340A	G	-	2	0	TLK1	171614594	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.854000	0.98071	0.655000	0.94253	GGT		0.348	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		12	49	0	0	0	0	12	49				
TTN	7273	broad.mit.edu	37	2	179483053	179483053	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr2:179483053G>T	ENST00000591111.1	-	202	42433	c.42209C>A	c.(42208-42210)gCa>gAa	p.A14070E	TTN_ENST00000589042.1_Missense_Mutation_p.A15711E|TTN-AS1_ENST00000589487.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A6646E|TTN_ENST00000342175.6_Missense_Mutation_p.A6838E|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13143E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A6771E			Q8WZ42	TITIN_HUMAN	titin	14070	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAACTCTCTGCACGGTCTGT	0.463																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(39427-39429)GCA>GAA		titin isoform N2-A							99.0	96.0	97.0					2																	179483053		1923	4132	6055	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179483053G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42209C>A	2.37:g.179483053G>T	ENSP00000465570:p.Ala14070Glu					TTN_uc010zfh.1_Missense_Mutation_p.A6838E|TTN_uc010zfi.1_Missense_Mutation_p.A6771E|TTN_uc010zfj.1_Missense_Mutation_p.A6646E	p.A13143E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		201	39652	-			14070					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.39428C>A		.	.	.	.	.	.	.	.	.	.	G	13.60	2.285701	0.40394	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.6	5.6	0.85130	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72070	0.3415	M	0.64567	1.98	0.52099	D	0.999942	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77557	0.982;0.982;0.982;0.99	T	0.73091	-0.4092	9	0.87932	D	0	.	19.982	0.97329	0.0:0.0:1.0:0.0	.	6646;6771;6838;14070	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	13143;6646;6838;6771;6646	ENSP00000343764:A13143E;ENSP00000434586:A6646E;ENSP00000340554:A6838E;ENSP00000352154:A6771E	ENSP00000340554:A6838E	A	-	2	0	TTN	179191298	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.763000	0.85283	2.798000	0.96311	0.650000	0.86243	GCA		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	87	1	0	6.32e-08	7.36e-08	15	87				
TTN	7273	broad.mit.edu	37	2	179549086	179549086	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr2:179549086G>A	ENST00000591111.1	-	130	31966	c.31742C>T	c.(31741-31743)aCt>aTt	p.T10581I	TTN_ENST00000589042.1_Missense_Mutation_p.T10898I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T9654I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTTTTTTAGTTACAGCAAC	0.398																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(28960-28962)ACT>ATT		titin isoform N2-A							123.0	113.0	116.0					2																	179549086		1833	4080	5913	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179549086G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31742C>T	2.37:g.179549086G>A	ENSP00000465570:p.Thr10581Ile					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T6315I|TTN_uc010fre.1_Intron	p.T9654I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		129	29185	-			10581					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.28961C>T		.	.	.	.	.	.	.	.	.	.	G	16.13	3.037237	0.54896	.	.	ENSG00000155657	ENST00000342992	T	0.64803	-0.12	5.71	5.71	0.89125	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.53351	0.1791	N	0.14661	0.345	0.80722	D	1	P	0.37914	0.611	B	0.40329	0.326	T	0.60037	-0.7341	9	0.87932	D	0	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	10581	Q8WZ42	TITIN_HUMAN	I	9654	ENSP00000343764:T9654I	ENSP00000343764:T9654I	T	-	2	0	TTN	179257331	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.813000	0.62620	2.709000	0.92574	0.655000	0.94253	ACT		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	36	0	0	0	0	4	36				
SIRPB1	10326	broad.mit.edu	37	20	1600540	1600540	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr20:1600540C>A	ENST00000381605.4	-	1	115	c.51G>T	c.(49-51)atG>atT	p.M17I	SIRPB1_ENST00000279477.7_Missense_Mutation_p.M17I|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000568365.1_Missense_Mutation_p.M17I|SIRPB1_ENST00000381603.3_Missense_Mutation_p.M17I|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.M17I	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	17					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GCAGTAGCGTCATCAGCAGGA	0.562																																						uc010gai.2		NA																	0				ovary(1)	1						c.(49-51)ATG>ATT		signal-regulatory protein beta 1 isoform 1							98.0	87.0	91.0					20																	1600540		2203	4300	6503	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1600540C>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.51G>T	20.37:g.1600540C>A	ENSP00000371018:p.Met17Ile					SIRPB1_uc002wfk.3_Missense_Mutation_p.M17I|SIRPB1_uc002wfl.3_Missense_Mutation_p.M17I	p.M17I	NM_006065	NP_006056	O00241	SIRB1_HUMAN			1	150	-			17					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.51G>T	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	7.846	0.722898	0.15439	.	.	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000279477;ENST00000381596	T;T;T	0.10005	4.48;4.83;2.92	1.85	0.82	0.18793	Immunoglobulin-like (2);	1.139260	0.06939	N	0.812506	T	0.09774	0.0240	L	0.40543	1.245	0.09310	N	0.999994	B;B;B	0.16396	0.017;0.006;0.008	B;B;B	0.15870	0.006;0.003;0.014	T	0.38200	-0.9672	10	0.59425	D	0.04	.	5.2714	0.15627	0.3397:0.6603:0.0:0.0	.	17;17;17	O00241;Q5TFQ8;O00241-2	SIRB1_HUMAN;SIRBL_HUMAN;.	I	17	ENSP00000371018:M17I;ENSP00000371016:M17I;ENSP00000279477:M17I	ENSP00000279477:M17I	M	-	3	0	SIRPB1	1548540	0.202000	0.23423	0.091000	0.20842	0.006000	0.05464	0.078000	0.14761	0.308000	0.22923	0.411000	0.27672	ATG		0.562	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		7	62	1	0	1.13e-05	1.3e-05	7	62				
SEL1L2	80343	broad.mit.edu	37	20	13856702	13856702	+	Missense_Mutation	SNP	A	A	T	rs201833683		TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr20:13856702A>T	ENST00000284951.5	-	12	1160	c.1086T>A	c.(1084-1086)ttT>ttA	p.F362L	SEL1L2_ENST00000378072.5_Missense_Mutation_p.F362L|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	362						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CTGCCATGGAAAAGTACTTGA	0.393																																						uc010gcf.2		NA																	0				ovary(2)	2						c.(1084-1086)TTT>TTA		sel-1 suppressor of lin-12-like 2 precursor							181.0	175.0	177.0					20																	13856702		1930	4145	6075	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13856702A>T	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1086T>A	20.37:g.13856702A>T	ENSP00000284951:p.Phe362Leu					SEL1L2_uc002woq.3_Missense_Mutation_p.F223L|SEL1L2_uc010zrl.1_Missense_Mutation_p.F362L|SEL1L2_uc002wor.2_RNA	p.F362L	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			12	1168	-			362			Extracellular (Potential).|Sel1-like 6.		B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1086T>A		.	.	.	.	.	.	.	.	.	.	A	15.69	2.909194	0.52439	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.49432	0.78;0.78	6.04	-1.21	0.09524	Tetratricopeptide-like helical (1);	0.087641	0.50627	D	0.000117	T	0.46073	0.1374	M	0.76002	2.32	0.36392	D	0.862594	B;B	0.32939	0.391;0.295	B;B	0.38056	0.264;0.218	T	0.49133	-0.8971	10	0.31617	T	0.26	-9.3153	10.761	0.46264	0.5376:0.0:0.4624:0.0	.	362;362	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	L	362	ENSP00000367312:F362L;ENSP00000284951:F362L	ENSP00000284951:F362L	F	-	3	2	SEL1L2	13804702	1.000000	0.71417	0.989000	0.46669	0.957000	0.61999	1.028000	0.30128	-0.243000	0.09653	-0.280000	0.10049	TTT		0.393	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		42	110	0	0	0	0	42	110				
ZDHHC8	29801	broad.mit.edu	37	22	20127696	20127696	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr22:20127696T>A	ENST00000334554.7	+	5	757	c.616T>A	c.(616-618)Ttc>Atc	p.F206I	ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000320602.7_Intron|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.F206I	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	206					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCTCACTGGCTTCCATGTGGT	0.637																																						uc002zrq.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(616-618)TTC>ATC		zinc finger, DHHC domain containing 8							135.0	81.0	99.0					22																	20127696		2203	4300	6503	SO:0001583	missense	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20127696T>A	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.616T>A	22.37:g.20127696T>A	ENSP00000334490:p.Phe206Ile					ZDHHC8_uc002zrr.1_Missense_Mutation_p.F206I|ZDHHC8_uc010gsa.2_Intron	p.F206I	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN			5	722	+	Colorectal(54;0.0993)		206			Helical; (Potential).		Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	37	c.616T>A	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	T	31	5.098809	0.94197	.	.	ENSG00000099904	ENST00000334554;ENST00000405930	T;T	0.25579	1.79;1.79	4.24	4.24	0.50183	.	0.134988	0.50627	D	0.000108	T	0.55369	0.1916	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.91635	0.999;0.979	T	0.64914	-0.6295	10	0.87932	D	0	.	13.6468	0.62286	0.0:0.0:0.0:1.0	.	206;206	Q9ULC8-3;Q9ULC8	.;ZDHC8_HUMAN	I	206	ENSP00000334490:F206I;ENSP00000384716:F206I	ENSP00000334490:F206I	F	+	1	0	ZDHHC8	18507696	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.811000	0.69187	1.663000	0.50791	0.533000	0.62120	TTC		0.637	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		6	32	0	0	0	0	6	32				
MORC2	22880	broad.mit.edu	37	22	31333632	31333632	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr22:31333632G>A	ENST00000397641.3	-	15	1844	c.1436C>T	c.(1435-1437)cCa>cTa	p.P479L	MORC2_ENST00000469915.1_Intron|MORC2_ENST00000215862.4_Missense_Mutation_p.P417L			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	479						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTCACTGGATGGGGGCTGGTT	0.547																																						uc003aje.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1249-1251)CCG>CTG		MORC family CW-type zinc finger 2							67.0	64.0	65.0					22																	31333632		2203	4300	6503	SO:0001583	missense	22880						ATP binding|zinc ion binding	g.chr22:31333632G>A	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.1436C>T	22.37:g.31333632G>A	ENSP00000380763:p.Pro479Leu						p.P417L	NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN			16	2614	-			479					B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37	c.1250C>T		.	.	.	.	.	.	.	.	.	.	G	33	5.265962	0.95399	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.14640	2.51;2.49	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.10567	-1.0624	10	0.41790	T	0.15	.	19.5178	0.95171	0.0:0.0:1.0:0.0	.	479	Q9Y6X9	MORC2_HUMAN	L	479;417	ENSP00000380763:P479L;ENSP00000215862:P417L	ENSP00000215862:P417L	P	-	2	0	MORC2	29663632	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.416000	0.97383	2.681000	0.91329	0.555000	0.69702	CCA		0.547	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		10	58	0	0	0	0	10	58				
NUP50	10762	broad.mit.edu	37	22	45574201	45574201	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr22:45574201C>T	ENST00000347635.4	+	5	889	c.423C>T	c.(421-423)tcC>tcT	p.S141S	NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000407019.2_Silent_p.S113S|CTA-268H5.12_ENST00000610217.1_RNA|NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000396096.2_Silent_p.S113S	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	141	5 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AGCAGCCCTCCTCCTCTGGCC	0.483																																						uc003bfr.2		NA																	0					0						c.(421-423)TCC>TCT		nucleoporin 50kDa isoform b							48.0	47.0	47.0					22																	45574201		2203	4298	6501	SO:0001819	synonymous_variant	10762				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding	g.chr22:45574201C>T	AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"""nucleoporin 50kD"""	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.423C>T	22.37:g.45574201C>T						NUP50_uc003bfs.2_Silent_p.S113S|NUP50_uc011aqn.1_5'UTR|NUP50_uc003bft.2_Silent_p.S113S|NUP50_uc011aqo.1_5'UTR	p.S141S	NM_007172	NP_009103	Q9UKX7	NUP50_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	5	885	+		Ovarian(80;0.00965)|all_neural(38;0.0244)	141			5 X 2 AA repeats of F-G.		B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Silent	SNP	ENST00000347635.4	37	c.423C>T	CCDS14062.1																																																																																				0.483	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2			10	40	0	0	0	0	10	40				
SOX2	6657	broad.mit.edu	37	3	181430873	181430873	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr3:181430873C>T	ENST00000325404.1	+	1	1152	c.725C>T	c.(724-726)tCg>tTg	p.S242L	SOX2_ENST00000431565.2_Missense_Mutation_p.S242L	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	242					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|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)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			TCCATGGGTTCGGTGGTCAAG	0.652			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																															uc003fkx.2		NA		Dom	yes		3	3q26.3-q27	6657	A	SRY (sex determining region Y)-box 2	yes	MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME	E			NSCLC|oesophageal squamous carcinoma		0					0						c.(724-726)TCG>TTG		sex-determining region Y-box 2							72.0	58.0	63.0					3																	181430873		2203	4300	6503	SO:0001583	missense	6657				cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:181430873C>T	BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"""SRY (sex determining region Y)-boxes"""	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.725C>T	3.37:g.181430873C>T	ENSP00000323588:p.Ser242Leu					SOX2OT_uc003fkv.2_Intron|SOX2OT_uc003fkw.3_Intron	p.S242L	NM_003106	NP_003097	P48431	SOX2_HUMAN	all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)		1	1152	+	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		242					Q14537	Missense_Mutation	SNP	ENST00000325404.1	37	c.725C>T	CCDS3239.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870107	0.51588	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	D;D	0.85773	-2.03;-2.03	5.41	5.41	0.78517	.	0.143577	0.48286	D	0.000193	D	0.86564	0.5963	M	0.77616	2.38	0.80722	D	1	B	0.19331	0.035	B	0.18263	0.021	D	0.84186	0.0442	10	0.87932	D	0	.	18.5469	0.91050	0.0:1.0:0.0:0.0	.	242	P48431	SOX2_HUMAN	L	242	ENSP00000439111:S242L;ENSP00000323588:S242L	ENSP00000323588:S242L	S	+	2	0	SOX2	182913567	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.445000	0.80570	2.688000	0.91661	0.591000	0.81541	TCG		0.652	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1	NM_003106		16	95	0	0	0	0	16	95				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						uc011bto.1		NA																	10	Substitution - Missense(10)		kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)		0						c.(12229-12231)CAC>CAG		mucin 4 isoform a							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.H4077Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	3	12691	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12231C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	4	0	0	0	0	4	4				
ABCG2	9429	broad.mit.edu	37	4	89052340	89052340	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr4:89052340G>T	ENST00000237612.3	-	5	949	c.404C>A	c.(403-405)aCg>aAg	p.T135K	ABCG2_ENST00000515655.1_Missense_Mutation_p.T135K	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	135	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	TTCTCTCACCGTCAGAGTGCC	0.378																																						uc003hrg.2		NA																	0				central_nervous_system(1)	1						c.(403-405)ACG>AAG		ATP-binding cassette, sub-family G, member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						191.0	172.0	179.0					4																	89052340		2203	4300	6503	SO:0001583	missense	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89052340G>T	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.404C>A	4.37:g.89052340G>T	ENSP00000237612:p.Thr135Lys					ABCG2_uc003hrh.2_Missense_Mutation_p.T135K|ABCG2_uc003hrf.2_Missense_Mutation_p.T5K	p.T135K	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	5	897	-		Hepatocellular(203;0.114)	135			ABC transporter.|Cytoplasmic (Potential).		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	c.404C>A	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	G	34	5.363393	0.95877	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	T;T	0.52754	0.65;0.65	5.37	5.37	0.77165	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.046113	0.85682	D	0.000000	T	0.74283	0.3696	M	0.86953	2.85	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.998	T	0.77816	-0.2447	10	0.59425	D	0.04	-1.3304	19.0867	0.93206	0.0:0.0:1.0:0.0	.	135;135;135	Q9UNQ0-2;Q9UNQ0;Q4W5I3	.;ABCG2_HUMAN;.	K	135	ENSP00000426917:T135K;ENSP00000237612:T135K	ENSP00000237612:T135K	T	-	2	0	ABCG2	89271364	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.397000	0.97276	2.677000	0.91161	0.655000	0.94253	ACG		0.378	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		10	88	1	0	0.00621372	0.00668596	10	88				
METTL14	57721	broad.mit.edu	37	4	119621732	119621732	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr4:119621732G>C	ENST00000388822.5	+	8	840	c.673G>C	c.(673-675)Gca>Cca	p.A225P	METTL14_ENST00000506780.1_Missense_Mutation_p.A187P			Q9HCE5	MET14_HUMAN	methyltransferase like 14	225					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						TGATGAGATTGCAGCACCTCG	0.348																																						uc003icf.2		NA																	0					0						c.(673-675)GCA>CCA		methyltransferase like 14							152.0	147.0	148.0					4																	119621732		2203	4300	6503	SO:0001583	missense	57721					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	g.chr4:119621732G>C	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.673G>C	4.37:g.119621732G>C	ENSP00000373474:p.Ala225Pro					METTL14_uc003icg.2_Missense_Mutation_p.A187P	p.A225P	NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN			8	789	+			225					A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	c.673G>C	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	g	19.72	3.880719	0.72294	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	T;T	0.43688	0.94;0.94	4.27	3.36	0.38483	.	0.126223	0.53938	D	0.000047	T	0.63200	0.2491	M	0.76838	2.35	0.53688	D	0.999975	D;D	0.76494	0.999;0.994	D;D	0.73380	0.98;0.966	T	0.69468	-0.5137	10	0.66056	D	0.02	-11.6571	13.931	0.63996	0.0:0.0:0.8481:0.1519	.	187;225	D6RBL4;Q9HCE5	.;MTL14_HUMAN	P	225;187	ENSP00000373474:A225P;ENSP00000424111:A187P	ENSP00000373474:A225P	A	+	1	0	METTL14	119841180	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.146000	0.64845	2.117000	0.64856	0.467000	0.42956	GCA		0.348	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		8	51	0	0	0	0	8	51				
SEC24D	9871	broad.mit.edu	37	4	119727067	119727067	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr4:119727067C>G	ENST00000280551.6	-	7	1082	c.844G>C	c.(844-846)Gtt>Ctt	p.V282L	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000379735.5_Missense_Mutation_p.V283L			O94855	SC24D_HUMAN	SEC24 family member D	282	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GTGGCATAAACTTGTCCTCCT	0.428																																						uc003ici.3		NA																	0					0						c.(844-846)GTT>CTT		Sec24-related protein D							217.0	187.0	197.0					4																	119727067		2203	4300	6503	SO:0001583	missense	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119727067C>G	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.844G>C	4.37:g.119727067C>G	ENSP00000280551:p.Val282Leu					SEC24D_uc003icj.3_Missense_Mutation_p.V283L|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA|SEC24D_uc011cgg.1_RNA	p.V282L	NM_014822	NP_055637	O94855	SC24D_HUMAN			7	1116	-			282			Pro-rich.		Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	37	c.844G>C	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	C	5.891	0.348515	0.11126	.	.	ENSG00000150961	ENST00000280551;ENST00000379735	T;T	0.77229	-1.07;-1.08	5.2	4.36	0.52297	.	0.261020	0.36555	N	0.002529	T	0.67088	0.2856	L	0.56769	1.78	0.23649	N	0.997202	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.50004	-0.8878	10	0.10111	T	0.7	-12.5227	5.8246	0.18546	0.0:0.6685:0.1601:0.1714	.	283;282	O94855-2;O94855	.;SC24D_HUMAN	L	282;283	ENSP00000280551:V282L;ENSP00000369059:V283L	ENSP00000280551:V282L	V	-	1	0	SEC24D	119946515	0.366000	0.25014	0.978000	0.43139	0.986000	0.74619	0.765000	0.26546	1.186000	0.42985	0.467000	0.42956	GTT		0.428	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			19	52	0	0	0	0	19	52				
CTNND2	1501	broad.mit.edu	37	5	11082866	11082866	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr5:11082866G>A	ENST00000304623.8	-	16	2919	c.2730C>T	c.(2728-2730)tgC>tgT	p.C910C	CTNND2_ENST00000359640.2_Silent_p.C852C|CTNND2_ENST00000458100.2_Silent_p.C477C|CTNND2_ENST00000503622.1_Silent_p.C573C|CTNND2_ENST00000511377.1_Silent_p.C819C|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	910					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.C910C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGGCCACCGCGCACACCACAC	0.527																																						uc003jfa.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2728-2730)TGC>TGT		catenin (cadherin-associated protein), delta 2							126.0	110.0	116.0					5																	11082866		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11082866G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2730C>T	5.37:g.11082866G>A						CTNND2_uc010itt.2_Silent_p.C819C|CTNND2_uc011cmy.1_Silent_p.C573C|CTNND2_uc011cmz.1_Silent_p.C477C|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.C502C	p.C910C	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			16	2875	-			910			ARM 8.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.2730C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355572	0.24598	.	.	ENSG00000169862	ENST00000538638	.	.	.	5.04	-4.39	0.03611	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4712	0.75441	0.8735:0.0:0.1265:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CTNND2	11135866	0.003000	0.15002	0.793000	0.32043	0.958000	0.62258	-0.963000	0.03837	-0.659000	0.05359	-0.253000	0.11424	.		0.527	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		20	77	0	0	0	0	20	77				
CRHBP	1393	broad.mit.edu	37	5	76251503	76251503	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr5:76251503G>A	ENST00000274368.4	+	4	781	c.359G>A	c.(358-360)gGg>gAg	p.G120E	CRHBP_ENST00000506501.1_Missense_Mutation_p.G120E	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	120					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)	p.G120E(1)		kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		ATTCTCAAGGGGGAGAAGTTC	0.458																																						uc003ker.2		NA																	1	Substitution - Missense(1)		skin(1)		0						c.(358-360)GGG>GAG		corticotropin releasing hormone binding protein							66.0	64.0	65.0					5																	76251503		2203	4300	6503	SO:0001583	missense	1393				female pregnancy|learning or memory|signal transduction	soluble fraction		g.chr5:76251503G>A	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.359G>A	5.37:g.76251503G>A	ENSP00000274368:p.Gly120Glu					CRHBP_uc010izx.2_Missense_Mutation_p.G120E	p.G120E	NM_001882	NP_001873	P24387	CRHBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)	4	639	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	120					Q53F32|Q6FHT5	Missense_Mutation	SNP	ENST00000274368.4	37	c.359G>A	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502666	0.85176	.	.	ENSG00000145708	ENST00000274368;ENST00000506501	.	.	.	4.62	4.62	0.57501	CUB (1);	0.000000	0.85682	D	0.000000	D	0.82783	0.5112	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85814	0.1381	9	0.87932	D	0	-5.543	17.6527	0.88169	0.0:0.0:1.0:0.0	.	120;120	D6RHH7;P24387	.;CRHBP_HUMAN	E	120	.	ENSP00000274368:G120E	G	+	2	0	CRHBP	76287259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.166000	0.94766	2.388000	0.81334	0.655000	0.94253	GGG		0.458	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		14	52	0	0	0	0	14	52				
HMMR	3161	broad.mit.edu	37	5	162900509	162900509	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr5:162900509T>G	ENST00000358715.3	+	9	883	c.847T>G	c.(847-849)Tct>Gct	p.S283A	HMMR_ENST00000432118.2_Missense_Mutation_p.S197A|HMMR_ENST00000353866.3_Missense_Mutation_p.S268A|HMMR_ENST00000393915.4_Missense_Mutation_p.S284A			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	283					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	TGTTATATTATCTAAACAAGT	0.289																																						uc003lzf.2		NA																	0					0						c.(847-849)TCT>GCT		hyaluronan-mediated motility receptor isoform b							49.0	54.0	53.0					5																	162900509		2197	4294	6491	SO:0001583	missense	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162900509T>G	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.847T>G	5.37:g.162900509T>G	ENSP00000351554:p.Ser283Ala					HMMR_uc003lzh.2_Missense_Mutation_p.S284A|HMMR_uc003lzg.2_Missense_Mutation_p.S268A|HMMR_uc011dem.1_Missense_Mutation_p.S197A	p.S283A	NM_012484	NP_036616	O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	9	1029	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	283					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	c.847T>G	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.953486	0.34471	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000434157;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2	5.25	2.7	0.31948	.	0.396864	0.28901	N	0.013778	T	0.18759	0.0450	M	0.65975	2.015	0.09310	N	1	D;D;D;D	0.67145	0.974;0.996;0.974;0.974	P;D;P;P	0.76071	0.778;0.987;0.827;0.827	T	0.11060	-1.0603	10	0.39692	T	0.17	-3.2896	2.4727	0.04568	0.2595:0.0707:0.1352:0.5347	.	197;284;268;283	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	A	169;268;268;284;260;197;283	ENSP00000400527:S169A;ENSP00000185942:S268A;ENSP00000377492:S284A;ENSP00000402673:S197A;ENSP00000351554:S283A	ENSP00000185942:S268A	S	+	1	0	HMMR	162833087	0.995000	0.38212	0.848000	0.33437	0.345000	0.29048	1.993000	0.40747	0.340000	0.23745	0.533000	0.62120	TCT		0.289	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		5	45	0	0	0	0	5	45				
PRL	5617	broad.mit.edu	37	6	22290542	22290542	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:22290542G>T	ENST00000306482.1	-	4	871	c.353C>A	c.(352-354)tCc>tAc	p.S118Y	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	118				S -> P (in Ref. 6; AAB70858). {ECO:0000305}.	cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CTCATTCCAGGATCGCAATAT	0.428																																						uc003ndp.2		NA																	0					0						c.(352-354)TCC>TAC		prolactin precursor							116.0	109.0	112.0					6																	22290542		2203	4300	6503	SO:0001583	missense	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22290542G>T	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.353C>A	6.37:g.22290542G>T	ENSP00000302150:p.Ser118Tyr					PRL_uc003ndo.2_Missense_Mutation_p.S119Y|PRL_uc003ndq.2_Missense_Mutation_p.S118Y	p.S118Y	NM_000948	NP_000939	P01236	PRL_HUMAN			4	872	-	Ovarian(93;0.163)		118	S -> P (in Ref. 6; AAB70858).				Q15199|Q92996	Missense_Mutation	SNP	ENST00000306482.1	37	c.353C>A	CCDS4548.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817844	0.71028	.	.	ENSG00000172179	ENST00000306482;ENST00000438606	D	0.92099	-2.97	5.87	5.87	0.94306	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.095816	0.64402	D	0.000001	D	0.97473	0.9173	H	0.94462	3.54	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97532	1.0080	10	0.87932	D	0	-14.6035	20.5827	0.99408	0.0:0.0:1.0:0.0	.	118;119	P01236;Q5I0G2	PRL_HUMAN;.	Y	118;87	ENSP00000302150:S118Y	ENSP00000302150:S118Y	S	-	2	0	PRL	22398521	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	6.417000	0.73337	2.941000	0.99782	0.655000	0.94253	TCC		0.428	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948		4	48	1	0	0.000602214	0.000666649	4	48				
HIST1H3F	8968	broad.mit.edu	37	6	26250638	26250638	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:26250638G>A	ENST00000446824.2	-	1	197	c.196C>T	c.(196-198)Cta>Tta	p.L66L	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	66					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			lung(6)|urinary_tract(1)	7						TGGAATGGTAGCTTGCGAATC	0.612											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003nhg.1		NA																	0					0						c.(196-198)CTA>TTA		histone cluster 1, H3f							122.0	123.0	123.0					6																	26250638		2203	4300	6503	SO:0001819	synonymous_variant	8968				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26250638G>A	Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"""Histones / Replication-dependent"""	4773	protein-coding gene	gene with protein product		602816	"""H3 histone family, member I"", ""histone 1, H3f"""	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.196C>T	6.37:g.26250638G>A			OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	785	HIST1H2BH_uc003nhh.2_5'Flank	p.L66L	NM_021018	NP_066298	P68431	H31_HUMAN			1	198	-			66					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000446824.2	37	c.196C>T	CCDS4600.1																																																																																				0.612	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040098.1	NM_021018		16	117	0	0	0	0	16	117				
ZKSCAN8	7745	broad.mit.edu	37	6	28116421	28116421	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:28116421G>T	ENST00000330236.6	+	2	420	c.236G>T	c.(235-237)tGg>tTg	p.W79L	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.W79L	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	79	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGCCATCAGTGGCTGAGGCCA	0.562																																						uc003nkn.1		NA																	0					0						c.(235-237)TGG>TTG		zinc finger protein 192							79.0	74.0	75.0					6																	28116421		2203	4300	6503	SO:0001583	missense	7745				viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28116421G>T		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.236G>T	6.37:g.28116421G>T	ENSP00000332750:p.Trp79Leu					ZNF192_uc010jqx.1_Missense_Mutation_p.W79L|ZNF192_uc010jqy.1_5'UTR|ZNF192_uc011dkz.1_5'UTR	p.W79L	NM_006298	NP_006289	Q15776	ZN192_HUMAN			2	420	+			79			SCAN box.		A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	SNP	ENST00000330236.6	37	c.236G>T	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.576154	0.86645	.	.	ENSG00000198315	ENST00000330236;ENST00000457389;ENST00000536028	T;T;T	0.58060	0.36;0.36;0.36	5.13	5.13	0.70059	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.47455	D	0.000230	D	0.82486	0.5047	H	0.99312	4.51	0.45634	D	0.998569	D	0.69078	0.997	D	0.81914	0.995	D	0.89195	0.3553	10	0.87932	D	0	.	16.3626	0.83275	0.0:0.0:1.0:0.0	.	79	Q15776	ZN192_HUMAN	L	79	ENSP00000332750:W79L;ENSP00000402948:W79L;ENSP00000439117:W79L	ENSP00000332750:W79L	W	+	2	0	ZNF192	28224400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.199000	0.72112	2.771000	0.95319	0.563000	0.77884	TGG		0.562	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			13	65	1	0	4.38e-07	5.08e-07	13	65				
MAS1L	116511	broad.mit.edu	37	6	29455526	29455526	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:29455526G>A	ENST00000377127.3	-	1	212	c.154C>T	c.(154-156)Ctt>Ttt	p.L52F		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	52					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TCATTTTGAAGAAAGACGCCA	0.507																																					NSCLC(153;755 1987 3859 11251 32945)	uc011dlq.1		NA																	0				ovary(7)|lung(2)	9						c.(154-156)CTT>TTT		MAS1 oncogene-like							87.0	86.0	87.0					6																	29455526		2203	4300	6503	SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455526G>A	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.154C>T	6.37:g.29455526G>A	ENSP00000366331:p.Leu52Phe						p.L52F	NM_052967	NP_443199	P35410	MAS1L_HUMAN			1	154	-			52			Extracellular (Potential).		Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	c.154C>T	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238990	0.22711	.	.	ENSG00000204687	ENST00000377127	T	0.05199	3.48	0.684	-0.343	0.12632	.	.	.	.	.	T	0.00815	0.0027	N	0.08118	0	0.09310	N	1	P	0.38922	0.651	B	0.31812	0.136	T	0.45848	-0.9233	9	0.56958	D	0.05	.	3.1276	0.06412	0.3532:0.0:0.6468:0.0	.	52	P35410	MAS1L_HUMAN	F	52	ENSP00000366331:L52F	ENSP00000366331:L52F	L	-	1	0	MAS1L	29563505	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	-0.236000	0.09003	-0.132000	0.11557	0.395000	0.25975	CTT		0.507	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		20	56	0	0	0	0	20	56				
TNXB	7148	broad.mit.edu	37	6	32020730	32020730	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:32020730C>T	ENST00000375244.3	-	26	9033	c.8832G>A	c.(8830-8832)acG>acA	p.T2944T	TNXB_ENST00000375247.2_Silent_p.T2942T			P22105	TENX_HUMAN	tenascin XB	2989	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCGGGGCCTCCGTGCTGGGTT	0.657																																						uc003nzl.2		NA																	0					0						c.(8824-8826)ACG>ACA		tenascin XB isoform 1 precursor							40.0	47.0	45.0					6																	32020730		1171	2504	3675	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32020730C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8832G>A	6.37:g.32020730C>T							p.T2942T	NM_019105	NP_061978	P22105	TENX_HUMAN			26	9028	-			2989					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.8826G>A																																																																																					0.657	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		14	100	0	0	0	0	14	100				
HLA-DMB	3109	broad.mit.edu	37	6	32906579	32906579	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:32906579C>T	ENST00000418107.2	-	2	481	c.219G>A	c.(217-219)gcG>gcA	p.A73A	HLA-DMB_ENST00000416244.2_Silent_p.A73A|AL645941.1_ENST00000390777.1_RNA|XXbac-BPG181M17.5_ENST00000429234.1_Silent_p.A105A	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	73	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)	p.A73A(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						AGAGGACATTCGCCAAGCTAT	0.527																																						uc003ocl.1		NA																	2	Substitution - coding silent(2)		large_intestine(2)		0						c.(217-219)GCG>GCA		major histocompatibility complex, class II, DM							124.0	124.0	124.0					6																	32906579		1511	2709	4220	SO:0001819	synonymous_variant	3109				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32906579C>T		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.219G>A	6.37:g.32906579C>T						HLA-DMB_uc003ocj.1_Silent_p.A73A|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_5'Flank|HLA-DMB_uc010jue.1_5'Flank|HLA-DMB_uc010juf.1_5'Flank|HLA-DMB_uc011dql.1_Silent_p.A73A	p.A73A	NM_002118	NP_002109	P28068	DMB_HUMAN			2	452	-			73			Beta-1.|Lumenal (Potential).		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Silent	SNP	ENST00000418107.2	37	c.219G>A	CCDS4760.1																																																																																				0.527	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118		17	96	0	0	0	0	17	96				
ENPP4	22875	broad.mit.edu	37	6	46107985	46107985	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:46107985A>G	ENST00000321037.4	+	2	895	c.665A>G	c.(664-666)aAg>aGg	p.K222R		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	222					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CAAAGACTCAAGATGTTAGGG	0.408																																						uc003oxy.2		NA																	0				ovary(3)|skin(1)	4						c.(664-666)AAG>AGG		ectonucleotide pyrophosphatase/phosphodiesterase							121.0	114.0	116.0					6																	46107985		2203	4300	6503	SO:0001583	missense	22875					integral to membrane	hydrolase activity	g.chr6:46107985A>G	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.665A>G	6.37:g.46107985A>G	ENSP00000318066:p.Lys222Arg						p.K222R	NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN			2	924	+			222			Extracellular (Potential).		A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	c.665A>G	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.006893	0.74932	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.74315	-0.83	5.91	5.91	0.95273	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.190409	0.56097	D	0.000034	T	0.72095	0.3418	L	0.58669	1.825	0.53688	D	0.999973	P	0.41978	0.767	P	0.47891	0.56	T	0.75766	-0.3202	10	0.56958	D	0.05	-20.8179	16.3483	0.83171	1.0:0.0:0.0:0.0	.	222	Q9Y6X5	ENPP4_HUMAN	R	222	ENSP00000318066:K222R	ENSP00000318066:K222R	K	+	2	0	ENPP4	46215944	1.000000	0.71417	0.940000	0.37924	0.966000	0.64601	8.887000	0.92456	2.254000	0.74563	0.533000	0.62120	AAG		0.408	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			17	68	0	0	0	0	17	68				
RIPPLY2	134701	broad.mit.edu	37	6	84563844	84563844	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:84563844C>T	ENST00000369689.1	+	3	354	c.203C>T	c.(202-204)gCc>gTc	p.A68V	RIPPLY2_ENST00000369687.1_Missense_Mutation_p.A10V	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	68					bone morphogenesis (GO:0060349)|determination of left/right symmetry (GO:0007368)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression (GO:0010468)|somite rostral/caudal axis specification (GO:0032525)|somitogenesis (GO:0001756)	nucleus (GO:0005634)				large_intestine(2)|lung(4)|urinary_tract(1)	7						ATGACCGCAGCCTCAGGAAAG	0.587																																						uc003pke.2		NA																	0					0						c.(202-204)GCC>GTC		ripply2 protein							102.0	96.0	98.0					6																	84563844		2203	4300	6503	SO:0001583	missense	134701				somite rostral/caudal axis specification	nucleus		g.chr6:84563844C>T	BC130460	CCDS34493.1	6q14.2	2013-07-23	2013-07-23	2008-05-07	ENSG00000203877	ENSG00000203877			21390	protein-coding gene	gene with protein product		609891	"""chromosome 6 open reading frame 159"", ""ripply2 homolog (zebrafish)"""	C6orf159			Standard	NM_001009994		Approved	dJ237I15.1	uc003pke.3	Q5TAB7	OTTHUMG00000015117	ENST00000369689.1:c.203C>T	6.37:g.84563844C>T	ENSP00000358703:p.Ala68Val						p.A68V	NM_001009994	NP_001009994	Q5TAB7	RIPP2_HUMAN			3	354	+			68					Q5TAB6	Missense_Mutation	SNP	ENST00000369689.1	37	c.203C>T	CCDS34493.1	.	.	.	.	.	.	.	.	.	.	C	9.894	1.204962	0.22205	.	.	ENSG00000203877	ENST00000369689;ENST00000369687	.	.	.	4.29	1.39	0.22231	.	0.353444	0.26390	N	0.024657	T	0.09774	0.0240	N	0.24115	0.695	0.09310	N	1	P	0.44139	0.827	B	0.44044	0.439	T	0.30179	-0.9987	9	0.20519	T	0.43	-7.4308	8.0928	0.30811	0.2954:0.418:0.2866:0.0	.	68	Q5TAB7	RIPP2_HUMAN	V	68;10	.	ENSP00000358701:A10V	A	+	2	0	RIPPLY2	84620563	0.034000	0.19679	0.001000	0.08648	0.001000	0.01503	0.132000	0.15891	0.068000	0.16574	-1.325000	0.01285	GCC		0.587	RIPPLY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041360.1	NM_001009994		10	56	0	0	0	0	10	56				
ARID1B	57492	broad.mit.edu	37	6	157525122	157525122	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:157525122C>G	ENST00000350026.5	+	18	4979	c.4978C>G	c.(4978-4980)Ctc>Gtc	p.L1660V	ARID1B_ENST00000346085.5_Missense_Mutation_p.L1673V|ARID1B_ENST00000275248.4_Missense_Mutation_p.L1655V|ARID1B_ENST00000367148.1_Missense_Mutation_p.L1713V	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1660					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TACTTTCAATCTCTCCCAGGT	0.428																																						uc003qqn.2		NA																	0				ovary(1)|breast(1)	2						c.(4963-4965)CTC>GTC		AT rich interactive domain 1B (SWI1-like)							319.0	318.0	318.0					6																	157525122		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157525122C>G	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4978C>G	6.37:g.157525122C>G	ENSP00000055163:p.Leu1660Val					ARID1B_uc003qqo.2_Missense_Mutation_p.L1615V|ARID1B_uc003qqp.2_Missense_Mutation_p.L1602V	p.L1655V	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	19	5115	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1660					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.4963C>G	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810104	0.70797	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.10288	3.31;3.35;3.31;3.35;2.89	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.32285	0.0824	M	0.83483	2.645	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.83275	0.991;0.996;0.996	T	0.11767	-1.0574	10	0.72032	D	0.01	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	1660;1673;1655	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	V	1673;1660;1713;1655;1182	ENSP00000344546:L1673V;ENSP00000055163:L1660V;ENSP00000356116:L1713V;ENSP00000275248:L1655V;ENSP00000412835:L1182V	ENSP00000275248:L1655V	L	+	1	0	ARID1B	157566814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.652000	0.90054	0.655000	0.94253	CTC		0.428	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		75	258	0	0	0	0	75	258				
MLLT4	4301	broad.mit.edu	37	6	168281147	168281147	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:168281147G>C	ENST00000447894.2	+	6	847	c.847G>C	c.(847-849)Gag>Cag	p.E283Q	MLLT4_ENST00000392108.3_Missense_Mutation_p.E283Q|MLLT4_ENST00000351017.4_Missense_Mutation_p.E283Q|MLLT4_ENST00000392112.1_Missense_Mutation_p.E282Q|MLLT4_ENST00000400822.3_Missense_Mutation_p.E282Q|MLLT4_ENST00000344191.4_Missense_Mutation_p.E283Q|MLLT4_ENST00000366806.2_Missense_Mutation_p.E283Q			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	283	Ras-associating 2. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TGAAGCTTTAGAGAAGTATGG	0.383			T	MLL	AL																																	uc003qwd.2		NA		Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(844-846)GAG>CAG		myeloid/lymphoid or mixed-lineage leukemia							133.0	144.0	141.0					6																	168281147		2203	4296	6499	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168281147G>C	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.847G>C	6.37:g.168281147G>C	ENSP00000404595:p.Glu283Gln					MLLT4_uc003qwb.1_Missense_Mutation_p.E282Q|MLLT4_uc003qwc.1_Missense_Mutation_p.E283Q|MLLT4_uc003qwf.2_5'UTR	p.E282Q	NM_001040001	NP_001035090	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	6	986	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	283			Ras-associating 2.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.844G>C		.	.	.	.	.	.	.	.	.	.	G	29.8	5.035779	0.93630	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	M	0.73598	2.24	0.80722	D	1	D;D;D	0.76494	0.999;0.989;0.989	D;D;D	0.85130	0.997;0.934;0.915	T	0.15867	-1.0422	9	.	.	.	-5.3007	18.8279	0.92125	0.0:0.0:1.0:0.0	.	282;283;282	P55196-5;P55196-6;P55196-2	.;.;.	Q	283;283;283;283;282;283;282;283	ENSP00000341118:E283Q;ENSP00000252692:E283Q;ENSP00000375956:E283Q;ENSP00000355771:E283Q;ENSP00000375960:E282Q;ENSP00000383623:E282Q;ENSP00000404595:E283Q	.	E	+	1	0	MLLT4	168023996	1.000000	0.71417	0.959000	0.39883	0.985000	0.73830	8.977000	0.93446	2.651000	0.90000	0.650000	0.86243	GAG		0.383	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		16	157	0	0	0	0	16	157				
RBAK	57786	broad.mit.edu	37	7	5103363	5103363	+	Silent	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr7:5103363A>G	ENST00000353796.3	+	6	600	c.276A>G	c.(274-276)caA>caG	p.Q92Q	RBAK-RBAKDN_ENST00000407184.1_Silent_p.Q92Q|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000396912.1_Silent_p.Q92Q	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	92					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)		AGAGAATCCAAGAAAACGAAG	0.353																																						uc010kss.1		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(274-276)CAA>CAG		RB-associated KRAB repressor							61.0	58.0	59.0					7																	5103363		2203	4300	6503	SO:0001819	synonymous_variant	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5103363A>G	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	ENST00000353796.3:c.276A>G	7.37:g.5103363A>G						LOC389458_uc003snr.2_Silent_p.Q92Q|RBAK_uc003sns.1_Silent_p.Q92Q	p.Q92Q	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	6	600	+		Ovarian(82;0.0175)	92					A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Silent	SNP	ENST00000353796.3	37	c.276A>G	CCDS5337.1																																																																																				0.353	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		4	20	0	0	0	0	4	20				
SAMD9L	219285	broad.mit.edu	37	7	92762824	92762824	+	Missense_Mutation	SNP	C	C	T	rs375447430		TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr7:92762824C>T	ENST00000318238.4	-	5	3677	c.2461G>A	c.(2461-2463)Gtt>Att	p.V821I	SAMD9L_ENST00000411955.1_Missense_Mutation_p.V821I|SAMD9L_ENST00000437805.1_Missense_Mutation_p.V821I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	821					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTGCTAAAACGGAATGGATG	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		21446	0.001		0.0	False		,,,				2504	0.0					uc003umh.1		NA																	0				ovary(4)	4						c.(2461-2463)GTT>ATT		sterile alpha motif domain containing 9-like		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	75.0	76.0	75.0		2461	-3.7	0.0	7		75	0,8598		0,0,4299	no	missense	SAMD9L	NM_152703.2	29	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	821/1585	92762824	1,13003	2203	4299	6502	SO:0001583	missense	219285							g.chr7:92762824C>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2461G>A	7.37:g.92762824C>T	ENSP00000326247:p.Val821Ile					SAMD9L_uc003umj.1_Missense_Mutation_p.V821I|SAMD9L_uc003umi.1_Missense_Mutation_p.V821I|SAMD9L_uc010lfb.1_Missense_Mutation_p.V821I|SAMD9L_uc003umk.1_Missense_Mutation_p.V821I|SAMD9L_uc010lfc.1_Missense_Mutation_p.V821I|SAMD9L_uc010lfd.1_Missense_Mutation_p.V821I|SAMD9L_uc011khx.1_Intron	p.V821I	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3677	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		821					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.2461G>A	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.653504	0.00779	2.27E-4	0.0	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.23147	1.92;1.92;1.92	4.67	-3.69	0.04450	.	1.568750	0.03661	N	0.242535	T	0.08133	0.0203	N	0.01705	-0.755	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18618	-1.0331	10	0.17369	T	0.5	-0.0729	3.3258	0.07066	0.1382:0.4366:0.2641:0.1611	.	821	Q8IVG5	SAM9L_HUMAN	I	821	ENSP00000326247:V821I;ENSP00000405760:V821I;ENSP00000408796:V821I	ENSP00000326247:V821I	V	-	1	0	SAMD9L	92600760	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.711000	0.01886	-0.569000	0.06030	-1.238000	0.01547	GTT		0.383	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		20	52	0	0	0	0	20	52				
LMTK2	22853	broad.mit.edu	37	7	97821898	97821898	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr7:97821898C>T	ENST00000297293.5	+	11	2414	c.2121C>T	c.(2119-2121)caC>caT	p.H707H		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	707					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ATCTTATGCACCAAGATAATT	0.363																																						uc003upd.1		NA																	0				lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16						c.(2119-2121)CAC>CAT		lemur tyrosine kinase 2 precursor							62.0	73.0	69.0					7																	97821898		2203	4297	6500	SO:0001819	synonymous_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97821898C>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.2121C>T	7.37:g.97821898C>T							p.H707H	NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN			11	2414	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		707					A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	c.2121C>T	CCDS5654.1																																																																																				0.363	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		14	75	0	0	0	0	14	75				
LRGUK	136332	broad.mit.edu	37	7	133886291	133886291	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr7:133886291G>C	ENST00000285928.2	+	15	1875	c.1806G>C	c.(1804-1806)ttG>ttC	p.L602F		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	602						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ACCTTGGATTGACTGAGGAAC	0.388																																						uc003vrm.1		NA																	0				lung(2)|skin(2)|kidney(1)	5						c.(1804-1806)TTG>TTC		leucine-rich repeats and guanylate kinase domain							123.0	109.0	114.0					7																	133886291		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133886291G>C	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1806G>C	7.37:g.133886291G>C	ENSP00000285928:p.Leu602Phe						p.L602F	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			15	1822	+			602					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.1806G>C	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	6.438	0.448950	0.12223	.	.	ENSG00000155530	ENST00000285928	T	0.41065	1.01	4.89	3.05	0.35203	.	0.096013	0.43110	N	0.000606	T	0.33177	0.0854	L	0.53671	1.685	0.33910	D	0.639559	B	0.25667	0.131	B	0.25759	0.063	T	0.34304	-0.9834	10	0.33141	T	0.24	-5.535	5.5674	0.17179	0.1665:0.0:0.6742:0.1593	.	602	Q96M69	LRGUK_HUMAN	F	602	ENSP00000285928:L602F	ENSP00000285928:L602F	L	+	3	2	LRGUK	133536831	0.995000	0.38212	0.551000	0.28230	0.104000	0.19210	2.601000	0.46249	0.566000	0.29273	0.561000	0.74099	TTG		0.388	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		7	48	0	0	0	0	7	48				
ERI1	90459	broad.mit.edu	37	8	8869134	8869134	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr8:8869134G>T	ENST00000523898.1	+	4	1049	c.370G>T	c.(370-372)Gac>Tac	p.D124Y	ERI1_ENST00000250263.7_Missense_Mutation_p.D124Y|ERI1_ENST00000519292.1_Missense_Mutation_p.D124Y			Q8IV48	ERI1_HUMAN	exoribonuclease 1	124					gene silencing by RNA (GO:0031047)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|rRNA 3'-end processing (GO:0031125)	cytoplasm (GO:0005737)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|histone pre-mRNA stem-loop binding (GO:0071207)|metal ion binding (GO:0046872)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						CAATTTTGCTGACAGTTATTA	0.348																																						uc011kwu.1		NA																	0					0						c.(370-372)GAC>TAC		three prime histone mRNA exonuclease 1	Adenosine monophosphate(DB00131)						84.0	84.0	84.0					8																	8869134		2203	4300	6503	SO:0001583	missense	90459				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding	g.chr8:8869134G>T	BC035279	CCDS5972.1	8p23.1	2008-12-16	2008-12-16	2008-12-16	ENSG00000104626	ENSG00000104626		"""Enhanced RNAi three prime mRNA exonucleases"""	23994	protein-coding gene	gene with protein product	"""exoribonuclease 1"", ""enhanced RNAi three prime mRNA exonuclease homolog 1 (C.elegans)"""	608739	"""three prime histone mRNA exonuclease 1"""	THEX1		14536070	Standard	NM_153332		Approved	3'HEXO	uc003wsk.2	Q8IV48	OTTHUMG00000129328	ENST00000523898.1:c.370G>T	8.37:g.8869134G>T	ENSP00000429615:p.Asp124Tyr					ERI1_uc003wsk.2_Missense_Mutation_p.D124Y	p.D124Y	NM_153332	NP_699163	Q8IV48	ERI1_HUMAN			3	630	+			124					A8K4U7|Q9NSX3	Missense_Mutation	SNP	ENST00000523898.1	37	c.370G>T	CCDS5972.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737603	0.69304	.	.	ENSG00000104626	ENST00000523898;ENST00000250263;ENST00000519292	T;T;T	0.48201	0.82;0.82;0.82	6.0	2.18	0.27775	Ribonuclease H-like (1);	0.456560	0.27406	N	0.019504	T	0.41305	0.1153	M	0.70595	2.14	0.52501	D	0.999957	B	0.33904	0.431	B	0.25405	0.06	T	0.37337	-0.9710	10	0.66056	D	0.02	-16.3595	8.9218	0.35617	0.1583:0.1124:0.7293:0.0	.	124	Q8IV48	ERI1_HUMAN	Y	124	ENSP00000429615:D124Y;ENSP00000250263:D124Y;ENSP00000430190:D124Y	ENSP00000250263:D124Y	D	+	1	0	ERI1	8906544	1.000000	0.71417	0.095000	0.20976	0.980000	0.70556	4.619000	0.61218	0.437000	0.26423	0.551000	0.68910	GAC		0.348	ERI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251471.2	NM_153332		17	30	1	0	1.03e-11	1.22e-11	17	30				
ZFHX4	79776	broad.mit.edu	37	8	77763207	77763207	+	Silent	SNP	G	G	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr8:77763207G>C	ENST00000521891.2	+	10	4498	c.4050G>C	c.(4048-4050)ccG>ccC	p.P1350P	ZFHX4_ENST00000050961.6_Silent_p.P1305P|ZFHX4_ENST00000518282.1_Silent_p.P1324P|ZFHX4_ENST00000455469.2_Silent_p.P1305P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCAGAAACCGACTAAAGAAC	0.398										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(3913-3915)CCG>CCC		zinc finger homeodomain 4							68.0	65.0	66.0					8																	77763207		1852	4088	5940	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763207G>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4050G>C	8.37:g.77763207G>C		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.P1350P|ZFHX4_uc003yaw.1_Silent_p.P1305P	p.P1305P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4302	+			1305					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.3915G>C	CCDS47878.2																																																																																				0.398	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		8	32	0	0	0	0	8	32				
NBN	4683	broad.mit.edu	37	8	90949281	90949281	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr8:90949281T>C	ENST00000265433.3	-	15	2361	c.2207A>G	c.(2206-2208)gAa>gGa	p.E736G	NBN_ENST00000409330.1_Missense_Mutation_p.E654G	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	736					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AAGAGACTCTTCTTTTGCATG	0.299								Homologous recombination																														uc003yej.1		NA																	0				central_nervous_system(3)|kidney(3)|lung(1)	7						c.(2206-2208)GAA>GGA	Direct_reversal_of_damage|Homologous_recombination	nibrin							95.0	95.0	95.0					8																	90949281		2203	4300	6503	SO:0001583	missense	4683	Nijmegen_Breakage_syndrome			cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90949281T>C	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.2207A>G	8.37:g.90949281T>C	ENSP00000265433:p.Glu736Gly					NBN_uc003yei.1_Missense_Mutation_p.E654G|NBN_uc011lgb.1_Missense_Mutation_p.K729E	p.E736G	NM_002485	NP_002476	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		15	2317	-			736	EE->AA: Decreases ATM binding.		EEXXXDDL motif.		B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.2207A>G	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.313017	0.81358	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	T;T	0.64260	-0.05;-0.09	5.22	5.22	0.72569	DNA repair Nbs1, C-terminal (1);	0.057149	0.64402	D	0.000001	T	0.75576	0.3868	L	0.56769	1.78	0.53005	D	0.999965	D	0.89917	1.0	D	0.87578	0.998	T	0.78314	-0.2252	10	0.87932	D	0	-28.4107	14.2461	0.65990	0.0:0.0:0.0:1.0	.	736	O60934	NBN_HUMAN	G	736;654	ENSP00000265433:E736G;ENSP00000386924:E654G	ENSP00000265433:E736G	E	-	2	0	NBN	91018457	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.908000	0.63307	2.093000	0.63338	0.528000	0.53228	GAA		0.299	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		6	30	0	0	0	0	6	30				
INTS8	55656	broad.mit.edu	37	8	95839504	95839504	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr8:95839504G>A	ENST00000523731.1	+	3	452	c.319G>A	c.(319-321)Gta>Ata	p.V107I	INTS8_ENST00000447247.1_Missense_Mutation_p.V107I	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	107					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GTCTGTTCCAGTATTGAATAT	0.383																																						uc003yhb.2		NA																	0					0						c.(319-321)GTA>ATA		integrator complex subunit 8							119.0	111.0	114.0					8																	95839504		2203	4300	6503	SO:0001583	missense	55656				snRNA processing	integrator complex	protein binding	g.chr8:95839504G>A	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.319G>A	8.37:g.95839504G>A	ENSP00000430338:p.Val107Ile					INTS8_uc003yha.1_Missense_Mutation_p.V107I|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_5'Flank	p.V107I	NM_017864	NP_060334	Q75QN2	INT8_HUMAN			3	445	+	Breast(36;1.05e-06)		107					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	c.319G>A	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.303307|4.303307	0.81136|0.81136	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000521860|ENST00000522171;ENST00000523808;ENST00000523731;ENST00000447247	.|.	.|.	.|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73745|0.73745	0.3626|0.3626	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	.|D;D	.|0.67145	.|0.996;0.996	.|D;D	.|0.76071	.|0.987;0.987	T|T	0.65545|0.65545	-0.6142|-0.6142	5|9	.|0.22109	.|T	.|0.4	-11.4684|-11.4684	20.5568|20.5568	0.99304|0.99304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|107;107	.|Q75QN2;Q75QN2-2	.|INT8_HUMAN;.	N|I	94|66;171;107;107	.|.	.|ENSP00000343274:V107I	S|V	+|+	2|1	0|0	INTS8|INTS8	95908680|95908680	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.928000|0.928000	0.56348|0.56348	9.476000|9.476000	0.97823|0.97823	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	AGT|GTA		0.383	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		35	60	0	0	0	0	35	60				
TG	7038	broad.mit.edu	37	8	133925427	133925427	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr8:133925427C>A	ENST00000220616.4	+	20	4335	c.4295C>A	c.(4294-4296)aCc>aAc	p.T1432N	TG_ENST00000377869.1_Missense_Mutation_p.T1432N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1432					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CACTTTGGCACCTCTCCCAGG	0.557																																						uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(4294-4296)ACC>AAC		thyroglobulin precursor							110.0	90.0	97.0					8																	133925427		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133925427C>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4295C>A	8.37:g.133925427C>A	ENSP00000220616:p.Thr1432Asn					TG_uc010mdw.2_Missense_Mutation_p.T191N	p.T1432N	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	20	4336	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1432					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.4295C>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903258	0.52333	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	T;T	0.64085	-0.08;-0.06	5.81	4.93	0.64822	.	0.663369	0.14665	N	0.305728	T	0.59555	0.2202	M	0.70595	2.14	0.26098	N	0.980852	P	0.45283	0.855	B	0.37650	0.255	T	0.62618	-0.6816	10	0.66056	D	0.02	.	11.3236	0.49436	0.0:0.9138:0.0:0.0862	.	1432	P01266	THYG_HUMAN	N	1432;238;1432	ENSP00000367100:T1432N;ENSP00000220616:T1432N	ENSP00000220616:T1432N	T	+	2	0	TG	133994609	0.550000	0.26489	0.975000	0.42487	0.872000	0.50106	1.110000	0.31147	2.753000	0.94483	0.650000	0.86243	ACC		0.557	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		15	57	1	0	2.23e-06	2.58e-06	15	57				
TMEM2	23670	broad.mit.edu	37	9	74364981	74364981	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr9:74364981T>C	ENST00000377044.4	-	2	848	c.309A>G	c.(307-309)atA>atG	p.I103M	TMEM2_ENST00000377066.5_Missense_Mutation_p.I103M	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	103					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATTTTGAGGATATTCCTAAAA	0.294																																						uc011lsa.1		NA																	0				ovary(2)	2						c.(307-309)ATA>ATG		transmembrane protein 2 isoform a							57.0	53.0	54.0					9																	74364981		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74364981T>C		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.309A>G	9.37:g.74364981T>C	ENSP00000366243:p.Ile103Met					TMEM2_uc010mos.2_Missense_Mutation_p.I103M|TMEM2_uc011lsb.1_RNA	p.I103M	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	2	849	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	103			Helical; (Potential).		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.309A>G	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.962384	0.53400	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.75154	-0.91;-0.87	5.23	4.06	0.47325	.	0.156118	0.64402	D	0.000020	T	0.77598	0.4154	L	0.47716	1.5	0.80722	D	1	D;D	0.57899	0.981;0.976	P;P	0.59056	0.698;0.851	T	0.77736	-0.2476	10	0.59425	D	0.04	.	10.2261	0.43227	0.2643:0.0:0.0:0.7357	.	103;103	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	M	103	ENSP00000366243:I103M;ENSP00000366266:I103M	ENSP00000366243:I103M	I	-	3	3	TMEM2	73554801	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.126000	0.31344	1.074000	0.40909	0.533000	0.62120	ATA		0.294	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		6	29	0	0	0	0	6	29				
SVEP1	79987	broad.mit.edu	37	9	113233781	113233781	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr9:113233781T>C	ENST00000401783.2	-	16	3197	c.2861A>G	c.(2860-2862)aAa>aGa	p.K954R	SVEP1_ENST00000302728.8_Missense_Mutation_p.K954R|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.K931R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	954					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAGAGTCCTTTTCAGTTTATT	0.403																																						uc010mtz.2		NA																	0				ovary(7)	7						c.(2860-2862)AAA>AGA		polydom							130.0	119.0	122.0					9																	113233781		1837	4096	5933	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113233781T>C	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2861A>G	9.37:g.113233781T>C	ENSP00000384917:p.Lys954Arg					SVEP1_uc010mua.1_Missense_Mutation_p.K954R	p.K954R	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			16	3198	-			954					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.2861A>G	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	17.18	3.323589	0.60634	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.77620	-0.97;-0.97;-1.11	5.49	4.36	0.52297	.	0.137802	0.64402	N	0.000004	T	0.65048	0.2654	L	0.29908	0.895	0.31053	N	0.714961	P;P	0.45348	0.682;0.856	B;B	0.41374	0.115;0.355	T	0.63786	-0.6558	10	0.19590	T	0.45	.	11.0606	0.47944	0.0:0.0725:0.0:0.9275	.	954;954	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	R	954;931;954	ENSP00000384917:K954R;ENSP00000363593:K931R;ENSP00000304118:K954R	ENSP00000304118:K954R	K	-	2	0	SVEP1	112273602	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	3.122000	0.50446	0.932000	0.37266	0.528000	0.53228	AAA		0.403	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	40	0	0	0	0	3	40				
MAOB	4129	broad.mit.edu	37	X	43698134	43698134	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chrX:43698134G>A	ENST00000378069.4	-	3	406	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C	MAOB_ENST00000536181.1_Missense_Mutation_p.R71C|MAOB_ENST00000538942.1_Missense_Mutation_p.R71C|MAOB_ENST00000487544.1_5'UTR	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	87					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	TGGATCAGACGCTCAACCTCA	0.433													G|||	1	0.000264901	0.0	0.0	3775	,	,		10843	0.001		0.0	False		,,,				2504	0.0					uc004dfz.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(259-261)CGT>TGT		monoamine oxidase B	Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)						144.0	121.0	129.0					X																	43698134		2203	4300	6503	SO:0001583	missense	4129				xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	g.chrX:43698134G>A		CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.259C>T	X.37:g.43698134G>A	ENSP00000367309:p.Arg87Cys					MAOB_uc011mkx.1_Missense_Mutation_p.R71C|MAOB_uc011mky.1_Missense_Mutation_p.R71C|MAOB_uc010nhj.2_Missense_Mutation_p.R87C	p.R87C	NM_000898	NP_000889	P27338	AOFB_HUMAN			3	435	-			87			Cytoplasmic.		B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	ENST00000378069.4	37	c.259C>T	CCDS14261.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.089986	0.36855	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	D;D;D	0.92647	-3.08;-3.08;-3.08	5.13	4.2	0.49525	Amine oxidase (1);	0.493963	0.24130	N	0.041268	D	0.86944	0.6055	L	0.39467	1.215	0.48571	D	0.999671	B;B;B	0.30851	0.297;0.021;0.036	B;B;B	0.22753	0.041;0.011;0.016	D	0.83948	0.0315	10	0.52906	T	0.07	-2.0317	12.0701	0.53611	0.0935:0.0:0.9065:0.0	.	71;87;87	B7Z5H3;Q8TBI1;P27338	.;.;AOFB_HUMAN	C	87;71;71	ENSP00000367309:R87C;ENSP00000441613:R71C;ENSP00000442240:R71C	ENSP00000367309:R87C	R	-	1	0	MAOB	43583078	0.011000	0.17503	0.896000	0.35187	0.958000	0.62258	1.538000	0.36094	0.936000	0.37367	0.513000	0.50165	CGT		0.433	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1	NM_000898		18	82	0	0	0	0	18	82				
CCNB3	85417	broad.mit.edu	37	X	50052074	50052074	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chrX:50052074C>G	ENST00000376042.1	+	6	1203	c.905C>G	c.(904-906)cCa>cGa	p.P302R	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.P302R			Q8WWL7	CCNB3_HUMAN	cyclin B3	302					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TTTAGGAAGCCACCAGTATTG	0.418																																						uc004dox.3		NA																	0				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(904-906)CCA>CGA		cyclin B3 isoform 3							109.0	92.0	98.0					X																	50052074		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50052074C>G	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.905C>G	X.37:g.50052074C>G	ENSP00000365210:p.Pro302Arg					CCNB3_uc004doy.2_Missense_Mutation_p.P302R|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.P302R	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	1203	+	Ovarian(276;0.236)		302					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.905C>G	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473833	0.43942	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.33865	1.39;1.39	3.88	3.88	0.44766	.	50.847900	0.00166	N	0.000000	T	0.59810	0.2221	L	0.61218	1.895	0.09310	N	1	D	0.69078	0.997	D	0.68353	0.957	T	0.38478	-0.9659	9	.	.	.	.	10.2813	0.43541	0.0:1.0:0.0:0.0	.	302	Q8WWL7	CCNB3_HUMAN	R	302	ENSP00000365210:P302R;ENSP00000276014:P302R	.	P	+	2	0	CCNB3	50068814	0.003000	0.15002	0.019000	0.16419	0.025000	0.11179	1.125000	0.31332	2.182000	0.69389	0.594000	0.82650	CCA		0.418	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			7	73	0	0	0	0	7	73				
ATG4A	115201	broad.mit.edu	37	X	107393409	107393409	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chrX:107393409A>G	ENST00000372232.3	+	10	1001	c.842A>G	c.(841-843)cAt>cGt	p.H281R	ATG4A_ENST00000345734.3_Missense_Mutation_p.H219R|COL4A6_ENST00000418180.1_Intron|ATG4A_ENST00000372254.3_Missense_Mutation_p.H257R|ATG4A_ENST00000489247.1_3'UTR|ATG4A_ENST00000545696.1_Missense_Mutation_p.H142R	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	281					autophagy (GO:0006914)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						TTGGACCCTCATACAACCCAG	0.493																																						uc004enr.2		NA																	0				pancreas(1)	1						c.(841-843)CAT>CGT		autophagy-related cysteine endopeptidase 2							222.0	185.0	198.0					X																	107393409		2203	4300	6503	SO:0001583	missense	115201				autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity	g.chrX:107393409A>G	AJ320508	CCDS14538.1, CCDS14539.1	Xq22.1-q22.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000101844	ENSG00000101844			16489	protein-coding gene	gene with protein product		300663	"""AUT-like 2, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog A (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog A (S. cerevisiae)"""	AUTL2, APG4A		12446702, 12473658	Standard	NM_052936		Approved		uc004enr.3	Q8WYN0	OTTHUMG00000022176	ENST00000372232.3:c.842A>G	X.37:g.107393409A>G	ENSP00000361306:p.His281Arg					ATG4A_uc004ent.2_Missense_Mutation_p.H219R|ATG4A_uc004ens.2_Missense_Mutation_p.H197R|ATG4A_uc011msl.1_Missense_Mutation_p.H135R|ATG4A_uc010npi.2_RNA|ATG4A_uc004enu.2_Missense_Mutation_p.H197R|COL4A6_uc011msm.1_Intron	p.H281R	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN			10	965	+			281				By similarity.	A6NCH2|B2RAZ7|D3DUY0|O95534|Q5JYY9|Q5JYZ0|Q86VE5|Q96KQ0|Q96KQ1	Missense_Mutation	SNP	ENST00000372232.3	37	c.842A>G	CCDS14538.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.1|24.1	4.494218|4.494218	0.85069|0.85069	.|.	.|.	ENSG00000101844|ENSG00000101844	ENST00000372232;ENST00000345734;ENST00000372254;ENST00000545696|ENST00000394892	D;T;D;T|.	0.85556|.	-2.0;-0.42;-1.72;-0.62|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88522|0.88522	0.6459|0.6459	H|H	0.97852|0.97852	4.09|4.09	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.997;1.0;1.0|.	D;D;D|.	0.97110|.	0.993;0.998;1.0|.	D|D	0.92120|0.92120	0.5703|0.5703	10|6	0.59425|0.54805	D|T	0.04|0.06	-10.3476|-10.3476	15.1465|15.1465	0.72657|0.72657	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	142;219;281|.	F5H3G3;Q8WYN0-2;Q8WYN0|.	.;.;ATG4A_HUMAN|.	R|V	281;219;257;142|254	ENSP00000361306:H281R;ENSP00000298131:H219R;ENSP00000361328:H257R;ENSP00000438936:H142R|.	ENSP00000298131:H219R|ENSP00000341833:I204V	H|I	+|+	2|1	0|0	ATG4A|ATG4A	107280065|107280065	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.844000|7.844000	0.86867|0.86867	1.959000|1.959000	0.56917|0.56917	0.486000|0.486000	0.48141|0.48141	CAT|ATA		0.493	ATG4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057860.1	NM_052936		70	200	0	0	0	0	70	200				
GPR112	139378	broad.mit.edu	37	X	135430046	135430046	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chrX:135430046T>C	ENST00000394143.1	+	6	4472	c.4181T>C	c.(4180-4182)gTg>gCg	p.V1394A	GPR112_ENST00000287534.4_Missense_Mutation_p.V1331A|GPR112_ENST00000394141.1_Missense_Mutation_p.V1189A|GPR112_ENST00000412101.1_Missense_Mutation_p.V1189A|GPR112_ENST00000370652.1_Missense_Mutation_p.V1394A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1394					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCCAGGACTGTGGAAATGATA	0.453																																						uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(4180-4182)GTG>GCG		G-protein coupled receptor 112							169.0	159.0	163.0					X																	135430046		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135430046T>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4181T>C	X.37:g.135430046T>C	ENSP00000377699:p.Val1394Ala					GPR112_uc010nsb.1_Missense_Mutation_p.V1189A|GPR112_uc010nsc.1_Missense_Mutation_p.V1161A	p.V1394A	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	4472	+	Acute lymphoblastic leukemia(192;0.000127)		1394			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.4181T>C	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	t	1.952	-0.440967	0.04636	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.40225	1.08;1.08;1.04;1.15;1.04	2.93	1.71	0.24356	.	.	.	.	.	T	0.23766	0.0575	N	0.19112	0.55	0.09310	N	1	B;B;B	0.32918	0.341;0.341;0.39	B;B;B	0.30646	0.08;0.118;0.074	T	0.14062	-1.0486	9	0.42905	T	0.14	.	4.802	0.13301	0.3332:0.0:0.0:0.6668	.	1331;1189;1394	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	A	1394;1394;1189;1331;1189	ENSP00000377699:V1394A;ENSP00000359686:V1394A;ENSP00000416526:V1189A;ENSP00000287534:V1331A;ENSP00000377697:V1189A	ENSP00000287534:V1331A	V	+	2	0	GPR112	135257712	0.000000	0.05858	0.008000	0.14137	0.143000	0.21401	0.183000	0.16919	0.209000	0.20645	0.422000	0.28245	GTG		0.453	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			49	175	0	0	0	0	49	175				
MAGEA5	4104	broad.mit.edu	37	X	151283638	151283638	+	RNA	SNP	T	T	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chrX:151283638T>G	ENST00000509345.2	-	0	698																											GCTCCTTGACTTAATACTTGA	0.512																																						uc004ffj.2		NA																	0					0						c.(373-375)TAA>TAC		melanoma antigen family A, 5							87.0	88.0	88.0					X																	151283638		2203	4300	6503			4104							g.chrX:151283638T>G																													X.37:g.151283638T>G							p.*125Y	NM_021049	NP_066387	P43359	MAGA5_HUMAN			3	580	-	Acute lymphoblastic leukemia(192;6.56e-05)		125						Nonstop_Mutation	SNP	ENST00000509345.2	37	c.375A>C																																																																																					0.512	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000445981.1			34	136	0	0	0	0	34	136				
CMTR2	55783	broad.mit.edu	37	16	71319701	71319705	+	Frame_Shift_Del	DEL	ATTAA	ATTAA	-			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr16:71319701_71319705delATTAA	ENST00000338099.5	-	3	455_459	c.119_123delTTAAT	c.(118-123)cttaatfs	p.LN40fs	CMTR2_ENST00000434935.2_Frame_Shift_Del_p.LN40fs			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	40					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										GCCACTCATTATTAAGTGGCTTGCC	0.41																																						uc010cga.2		NA																	0				skin(1)	1						c.(118-123)CTTAATfs		FtsJ methyltransferase domain containing 1																																				SO:0001589	frameshift_variant	55783					integral to membrane	methyltransferase activity|nucleic acid binding	g.chr16:71319701_71319705delATTAA	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.119_123delTTAAT	16.37:g.71319701_71319705delATTAA	ENSP00000337512:p.Leu40fs					FTSJD1_uc002ezy.3_Frame_Shift_Del_p.L40fs|FTSJD1_uc002ezz.3_Frame_Shift_Del_p.L40fs	p.L40fs	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN			3	525_529	-			40_41					B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Frame_Shift_Del	DEL	ENST00000338099.5	37	c.119_123delTTAAT	CCDS10898.1																																																																																				0.410	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		26	38	NA	NA	NA	NA	26	38	---	---	---	---
TUBGCP6	85378	broad.mit.edu	37	22	50656424	50656444	+	In_Frame_Del	DEL	CCCCGCGGGCCCCCAGGGGGC	CCCCGCGGGCCCCCAGGGGGC	-	rs201721812|rs35381394|rs112569564	byFrequency	TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr22:50656424_50656444delCCCCGCGGGCCCCCAGGGGGC	ENST00000248846.5	-	24	5375_5395	c.5271_5291delGCCCCCTGGGGGCCCGCGGGG	c.(5269-5292)gggccccctgggggcccgcggggt>ggt	p.1757_1764GPPGGPRG>G	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1757					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGCTCTGCACCCCGCGGGCCCCCAGGGGGCCCCCAGGCCT	0.624																																						uc003bkb.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(5269-5292)GGGCCCCCTGGGGGCCCGCGGGGT>GGT		tubulin, gamma complex associated protein 6																																				SO:0001651	inframe_deletion	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50656424_50656444delCCCCGCGGGCCCCCAGGGGGC	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.5271_5291delGCCCCCTGGGGGCCCGCGGGG	22.37:g.50656424_50656444delCCCCGCGGGCCCCCAGGGGGC	ENSP00000248846:p.Gly1757_Arg1763del					TUBGCP6_uc003bka.1_In_Frame_Del_p.827_834GPPGGPRG>G|TUBGCP6_uc010har.1_In_Frame_Del_p.1749_1756GPPGGPRG>G|TUBGCP6_uc010has.1_RNA	p.1757_1764GPPGGPRG>G	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	24	5783_5803	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1757_1764					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	In_Frame_Del	DEL	ENST00000248846.5	37	c.5271_5291delGCCCCCTGGGGGCCCGCGGGG	CCDS14087.1																																																																																				0.624	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		8	71	NA	NA	NA	NA	8	71	---	---	---	---
MAK	4117	broad.mit.edu	37	6	10830857	10830857	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:10830857delG	ENST00000313243.2	-	2	407	c.25delC	c.(25-27)cagfs	p.Q9fs	RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000536370.1_Frame_Shift_Del_p.Q9fs|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Frame_Shift_Del_p.Q9fs|MAK_ENST00000538030.1_Frame_Shift_Del_p.Q9fs|MAK_ENST00000354489.2_Frame_Shift_Del_p.Q9fs			P20794	MAK_HUMAN	male germ cell-associated kinase	9	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TCCCCCAACTGTCTCATGGTT	0.438																																						uc003mzl.2		NA																	0				breast(2)|skin(1)	3						c.(25-27)CAGfs		male germ cell-associated kinase							189.0	166.0	174.0					6																	10830857		2203	4300	6503	SO:0001589	frameshift_variant	4117				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	g.chr6:10830857delG		CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.25delC	6.37:g.10830857delG	ENSP00000313021:p.Gln9fs					SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Frame_Shift_Del_p.Q9fs|MAK_uc010jov.1_RNA	p.Q9fs	NM_005906	NP_005897	P20794	MAK_HUMAN			1	254	-	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)	9			Protein kinase.		F1T0K6|G1FL29|Q547D0|Q9NUH7	Frame_Shift_Del	DEL	ENST00000313243.2	37	c.25delC	CCDS4516.1																																																																																				0.438	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906		17	86	NA	NA	NA	NA	17	86	---	---	---	---
TIGD5	84948	broad.mit.edu	37	8	144680434	144680436	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr8:144680434_144680436delGAG	ENST00000504548.2	+	1	361_363	c.361_363delGAG	c.(361-363)gagdel	p.E123del	EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000528610.1_5'Flank|TIGD5_ENST00000321385.3_In_Frame_Del_p.E74del|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000529272.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000442189.2_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	123	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCTGGCCAACGAGGAGGAGATCG	0.704																																						uc003yyx.1		NA																	0					0						c.(214-216)GAGdel		tigger transposable element derived 5																																				SO:0001651	inframe_deletion	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144680434_144680436delGAG	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.361_363delGAG	8.37:g.144680440_144680442delGAG	ENSP00000421489:p.Glu123del					EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank	p.E74del	NM_032862	NP_116251	Q53EQ6	TIGD5_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	214_216	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		123					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	In_Frame_Del	DEL	ENST00000504548.2	37	c.214_216delGAG	CCDS6406.2																																																																																				0.704	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862		10	36	NA	NA	NA	NA	10	36	---	---	---	---
GTF3C4	9329	broad.mit.edu	37	9	135554721	135554722	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr9:135554721_135554722insT	ENST00000372146.4	+	2	2279_2280	c.1715_1716insT	c.(1714-1719)tattttfs	p.YF572fs		NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	572					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GGAGTCACCTATTTTTGGCGTT	0.371																																					Pancreas(142;417 1875 11086 31973 47667)	uc010mzv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1714-1716)TATfs		general transcription factor IIIC 4																																				SO:0001589	frameshift_variant	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135554721_135554722insT	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.1720dupT	9.37:g.135554726_135554726dupT	ENSP00000361219:p.Tyr572fs					GTF3C4_uc010mzw.2_RNA	p.Y572fs	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	2	1973_1974	+			572					Q5VZJ7	Frame_Shift_Ins	INS	ENST00000372146.4	37	c.1715_1716insT	CCDS6953.1																																																																																				0.371	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			36	160	NA	NA	NA	NA	36	160	---	---	---	---
