#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RP11-24M17.5	0	broad.mit.edu	37	15	76074441	76074441	+	RNA	SNP	A	A	T			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr15:76074441A>T	ENST00000395215.3	+	0	620																											CGAGCTGCAGAGAAGCGGTCC	0.557																																						ENST00000395215.3																			0																																																			0							g.chr15:76074441A>T																													15.37:g.76074441A>T														0	620	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.651	-0.071454	0.07228	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.437	0.437	0.16555	.	.	.	.	.	T	0.15478	0.0373	.	.	.	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.38001	-0.9681	6	0.02654	T	1	.	3.7635	0.08613	0.6336:0.0:0.0:0.3664	.	193	B4DZE6	.	S	193	.	ENSP00000378641:R193S	R	+	3	2	AC019294.2	73861496	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.070000	0.14573	-0.824000	0.04295	-1.485000	0.00982	AGA		0.557	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			3	42	0	0	0	1	0	3	42				
HNRNPH3	3189	broad.mit.edu	37	10	70101423	70101423	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr10:70101423G>A	ENST00000265866.7	+	8	1022	c.857G>A	c.(856-858)gGa>gAa	p.G286E	HNRNPH3_ENST00000354695.5_Missense_Mutation_p.G271E|HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.G178E	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	286	Gly-rich.				epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						GGAGGCTACGGAAGAGATGGA	0.368																																						ENST00000265866.7																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						c.(856-858)gGa>gAa		heterogeneous nuclear ribonucleoprotein H3 (2H9)							97.0	103.0	101.0					10																	70101423		2203	4300	6503	SO:0001583	missense	3189				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding	g.chr10:70101423G>A		CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"""RNA binding motif (RRM) containing"""	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.857G>A	10.37:g.70101423G>A	ENSP00000265866:p.Gly286Glu					HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.G178E|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.G271E	p.G286E	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN			8	1022	+			286			Gly-rich.		A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Missense_Mutation	SNP	ENST00000265866.7	37	c.857G>A	CCDS7278.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052967	0.75960	.	.	ENSG00000096746	ENST00000265866;ENST00000441000;ENST00000354695	T;T;T	0.14893	2.77;2.47;2.59	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.20981	0.0505	L	0.58810	1.83	0.80722	D	1	P;P;P	0.48016	0.845;0.904;0.845	B;B;B	0.38683	0.166;0.279;0.166	T	0.01863	-1.1258	10	0.33940	T	0.23	.	19.7939	0.96471	0.0:0.0:1.0:0.0	.	178;271;286	B4DHY1;P31942-2;P31942	.;.;HNRH3_HUMAN	E	286;178;271	ENSP00000265866:G286E;ENSP00000409869:G178E;ENSP00000346726:G271E	ENSP00000265866:G286E	G	+	2	0	HNRNPH3	69771429	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.846000	0.86887	2.668000	0.90789	0.563000	0.77884	GGA		0.368	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1			22	62	0	0	0	1	0	22	62				
PTPRJ	5795	broad.mit.edu	37	11	48145257	48145257	+	Silent	SNP	C	C	A	rs374139660		TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr11:48145257C>A	ENST00000418331.2	+	5	1061	c.709C>A	c.(709-711)Cgg>Agg	p.R237R	PTPRJ_ENST00000440289.2_Silent_p.R237R	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	237	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.R237W(2)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGCCTCCTGCCGGGTTCTTCT	0.517																																						ENST00000418331.2																			2	Substitution - Missense(2)	p.R237W(2)	endometrium(2)	breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(709-711)Cgg>Agg		protein tyrosine phosphatase, receptor type, J							71.0	66.0	68.0					11																	48145257		2201	4298	6499	SO:0001819	synonymous_variant	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48145257C>A	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.709C>A	11.37:g.48145257C>A						PTPRJ_ENST00000440289.2_Silent_p.R237R	p.R237R	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			5	1061	+			237			Fibronectin type-III 2.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	37	c.709C>A	CCDS7945.1																																																																																				0.517	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			3	72	1	0	0.150653	1	0.150653	3	72				
DDX41	51428	broad.mit.edu	37	5	176943192	176943192	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr5:176943192G>A	ENST00000507955.1	-	4	824	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	101					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GACTCTTTGCGCGCTGAGAAA	0.537																																						ENST00000507955.1																			0											c.(301-303)Cgc>Tgc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							175.0	178.0	177.0					5																	176943192		2203	4300	6503	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176943192G>A	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.301C>T	5.37:g.176943192G>A	ENSP00000422753:p.Arg101Cys					DDX41_ENST00000506965.1_5'UTR	p.R101C	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		4	824	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	101					B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.301C>T	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891001	0.91889	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.28454	1.61;1.62	5.47	5.47	0.80525	.	0.193558	0.45867	D	0.000337	T	0.37293	0.0998	L	0.60455	1.87	0.80722	D	1	D	0.60160	0.987	P	0.46825	0.528	T	0.19877	-1.0292	10	0.56958	D	0.05	-24.415	14.1951	0.65664	0.0:0.0:0.8505:0.1495	.	101	Q9UJV9	DDX41_HUMAN	C	119;101	ENSP00000330349:R119C;ENSP00000422753:R101C	ENSP00000330349:R119C	R	-	1	0	DDX41	176875798	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	7.288000	0.78691	2.560000	0.86352	0.561000	0.74099	CGC		0.537	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		22	161	0	0	0	1	0	22	161				
SPOP	8405	broad.mit.edu	37	17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr17:47696432A>C	ENST00000393328.2	-	6	756	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000393331.3_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000513080.1_5'Flank	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)																												ENST00000393331.3																			3	Substitution - Missense(3)	p.W131G(2)|p.W131R(1)	prostate(3)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)Tgg>Ggg		speckle-type POZ protein							121.0	124.0	123.0					17																	47696432		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696432A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.391T>G	17.37:g.47696432A>C	ENSP00000377001:p.Trp131Gly	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G	p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	861	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.391T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058244	0.76074	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	H	0.95402	3.665	0.80722	D	1	P	0.43024	0.798	P	0.47786	0.557	D	0.87031	0.2135	10	0.72032	D	0.01	0.1404	15.258	0.73599	1.0:0.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	G	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131G;ENSP00000377004:W131G;ENSP00000240327:W131G;ENSP00000425905:W131G;ENSP00000420908:W131G;ENSP00000426986:W131G;ENSP00000420960:W131G;ENSP00000426262:W131G;ENSP00000424119:W131G	ENSP00000240327:W131G	W	-	1	0	SPOP	45051431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.056000	0.93881	2.261000	0.74972	0.460000	0.39030	TGG		0.458	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		55	99	0	0	0	1	0	55	99				
PRAMEF19	645414	broad.mit.edu	37	1	13695960	13695960	+	Silent	SNP	G	G	T			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr1:13695960G>T	ENST00000376101.2	-	3	797	c.798C>A	c.(796-798)atC>atA	p.I266I	PRAMEF19_ENST00000540591.1_Silent_p.I335I			Q5SWL8	PRA19_HUMAN	PRAME family member 19	266					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)					lung(3)	3	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)		GCTCAAGACGGATGAAGCGCA	0.517																																						ENST00000540591.1																			0				lung(3)	3						c.(1003-1005)atC>atA		PRAME family member 19							8.0	8.0	8.0					1																	13695960		1915	3999	5914	SO:0001819	synonymous_variant	645414							g.chr1:13695960G>T			1p36.21	2013-01-17			ENSG00000204480	ENSG00000204480		"""-"""	24908	protein-coding gene	gene with protein product							Standard	NM_001099790		Approved	OTTHUMG00000007919	uc009vnu.1	Q5SWL8	OTTHUMG00000007919	ENST00000376101.2:c.798C>A	1.37:g.13695960G>T						PRAMEF19_ENST00000376101.2_Silent_p.I266I	p.I335I	NM_001099790.1	NP_001093260.2				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	1051	-	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)							Silent	SNP	ENST00000376101.2	37	c.1005C>A																																																																																					0.517	PRAMEF19-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000021794.2	NM_001099790		7	180	1	0	0.00448238	1	0.0046484	7	180				
MED13	9969	broad.mit.edu	37	17	60112846	60112846	+	Silent	SNP	T	T	C			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr17:60112846T>C	ENST00000397786.2	-	4	670	c.594A>G	c.(592-594)caA>caG	p.Q198Q	Y_RNA_ENST00000363972.1_RNA	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	198					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TATTAGACTGTTGAGCAAGGG	0.343																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(592-594)caA>caG		mediator complex subunit 13							127.0	116.0	119.0					17																	60112846		1852	4109	5961	SO:0001819	synonymous_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60112846T>C	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.594A>G	17.37:g.60112846T>C							p.Q198Q	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			4	670	-			198					B2RU05|O60334	Silent	SNP	ENST00000397786.2	37	c.594A>G	CCDS42366.1																																																																																				0.343	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		10	71	0	0	0	1	0	10	71				
DGKK	139189	broad.mit.edu	37	X	50119074	50119074	+	RNA	SNP	G	G	A	rs188642156		TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chrX:50119074G>A	ENST00000376025.2	-	0	3421							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGTCTTGGCCGTAAAATATAT	0.428													G|||	1	0.000264901	0.0	0.0	3775	,	,		15943	0.001		0.0	False		,,,				2504	0.0					ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa		G		2,3419		0,2,1423,571	64.0	58.0	60.0		3362	0.4	0.0	X		60	1,6510		0,1,2354,1801	yes	coding-synonymous	DGKK	NM_001013742.2		0,3,3777,2372	AA,AG,GG,G		0.0154,0.0585,0.0302		1121/1272	50119074	3,9929	1996	4156	6152			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50119074G>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50119074G>A										Q5KSL6	DGKK_HUMAN			0	3421	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.428	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		3	29	0	0	0	1	0	3	29				
BSN	8927	broad.mit.edu	37	3	49693080	49693080	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr3:49693080C>T	ENST00000296452.4	+	5	6205	c.6091C>T	c.(6091-6093)Cgc>Tgc	p.R2031C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2031					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGCGGATGGACGCTACCTAGG	0.602																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(6091-6093)Cgc>Tgc		bassoon presynaptic cytomatrix protein							164.0	149.0	154.0					3																	49693080		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49693080C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.6091C>T	3.37:g.49693080C>T	ENSP00000296452:p.Arg2031Cys						p.R2031C	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	6205	+			2031					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.6091C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675397	0.29783	.	.	ENSG00000164061	ENST00000296452	T	0.19250	2.16	5.1	3.17	0.36434	.	0.114280	0.64402	D	0.000017	T	0.14743	0.0356	L	0.36672	1.1	0.49483	D	0.999791	P	0.50617	0.937	B	0.40565	0.333	T	0.02603	-1.1135	10	0.48119	T	0.1	-7.8515	7.5596	0.27843	0.2536:0.4855:0.2609:0.0	.	2031	Q9UPA5	BSN_HUMAN	C	2031	ENSP00000296452:R2031C	ENSP00000296452:R2031C	R	+	1	0	BSN	49668084	1.000000	0.71417	0.981000	0.43875	0.884000	0.51177	3.922000	0.56462	1.131000	0.42111	0.561000	0.74099	CGC		0.602	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		30	93	0	0	0	1	0	30	93				
CLCN6	1185	broad.mit.edu	37	1	11888182	11888182	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr1:11888182C>T	ENST00000346436.6	+	11	912	c.860C>T	c.(859-861)gCc>gTc	p.A287V	CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000312413.6_Missense_Mutation_p.A287V|CLCN6_ENST00000376496.3_Missense_Mutation_p.A287V|CLCN6_ENST00000376487.3_Missense_Mutation_p.A265V	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	287					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCCATGTCTGCCACCTTCACC	0.512																																						ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(859-861)gCc>gTc		chloride channel, voltage-sensitive 6							243.0	250.0	248.0					1																	11888182		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11888182C>T	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.860C>T	1.37:g.11888182C>T	ENSP00000234488:p.Ala287Val					CLCN6_ENST00000376487.3_Missense_Mutation_p.A265V|CLCN6_ENST00000312413.6_Missense_Mutation_p.A287V|CLCN6_ENST00000376496.3_Missense_Mutation_p.A287V|CLCN6_ENST00000376492.3_3'UTR	p.A287V	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	11	912	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	287					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.860C>T	CCDS138.1	.	.	.	.	.	.	.	.	.	.	C	35	5.576306	0.96553	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376487;ENST00000376496;ENST00000376492	D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97	5.59	5.59	0.84812	Chloride channel, core (2);	0.045750	0.85682	D	0.000000	D	0.97417	0.9155	.	.	.	0.80722	D	1	D;D;D	0.69078	0.992;0.997;0.994	P;D;P	0.66196	0.801;0.942;0.875	D	0.96180	0.9130	9	0.21540	T	0.41	-36.8339	18.5938	0.91223	0.0:1.0:0.0:0.0	.	265;287;287	F8W9R3;P51797-3;P51797	.;.;CLCN6_HUMAN	V	287;287;265;287;287	ENSP00000308367:A287V;ENSP00000234488:A287V;ENSP00000365670:A265V;ENSP00000365679:A287V	ENSP00000308367:A287V	A	+	2	0	CLCN6	11810769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.466000	0.80914	2.625000	0.88918	0.655000	0.94253	GCC		0.512	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		10	270	0	0	0	1	0	10	270				
ENTPD3	956	broad.mit.edu	37	3	40465423	40465423	+	Missense_Mutation	SNP	A	A	C			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr3:40465423A>C	ENST00000301825.3	+	10	1440	c.1322A>C	c.(1321-1323)gAg>gCg	p.E441A	ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.E441A|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.E441A	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	441					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TTCACAGAGGAGACTTGGCCC	0.418																																						ENST00000301825.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1321-1323)gAg>gCg		ectonucleoside triphosphate diphosphohydrolase 3							120.0	111.0	114.0					3																	40465423		2203	4300	6503	SO:0001583	missense	956					integral to membrane	ATP binding|hydrolase activity	g.chr3:40465423A>C	AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.1322A>C	3.37:g.40465423A>C	ENSP00000301825:p.Glu441Ala					ENTPD3_ENST00000456402.1_Missense_Mutation_p.E441A|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.E441A|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA	p.E441A	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)	10	1440	+			441					B2R8D0|G5E9N0|O60495|Q8N6K2	Missense_Mutation	SNP	ENST00000301825.3	37	c.1322A>C	CCDS2691.1	.	.	.	.	.	.	.	.	.	.	A	11.86	1.766129	0.31228	.	.	ENSG00000168032	ENST00000301825;ENST00000456402;ENST00000445129	T;T;T	0.12039	2.72;2.72;2.72	5.47	3.03	0.35002	.	0.418208	0.29537	N	0.011865	T	0.11281	0.0275	L	0.45228	1.405	0.09310	N	1	B	0.14012	0.009	B	0.14023	0.01	T	0.22765	-1.0207	10	0.41790	T	0.15	-4.7099	7.096	0.25309	0.7728:0.148:0.0793:0.0	.	441	O75355	ENTP3_HUMAN	A	441	ENSP00000301825:E441A;ENSP00000401565:E441A;ENSP00000404671:E441A	ENSP00000301825:E441A	E	+	2	0	ENTPD3	40440427	0.999000	0.42202	0.012000	0.15200	0.830000	0.47004	4.536000	0.60636	0.427000	0.26145	0.482000	0.46254	GAG		0.418	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2	NM_001248		31	79	0	0	0	1	0	31	79				
ZGPAT	84619	broad.mit.edu	37	20	62364966	62364966	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr20:62364966A>G	ENST00000328969.5	+	4	873	c.746A>G	c.(745-747)aAg>aGg	p.K249R	RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.S155G|ZGPAT_ENST00000357119.4_Missense_Mutation_p.K249R|ZGPAT_ENST00000478385.1_3'UTR|ZGPAT_ENST00000369967.3_Missense_Mutation_p.K249R|ZGPAT_ENST00000448100.2_Missense_Mutation_p.K249R|ZGPAT_ENST00000355969.6_Missense_Mutation_p.K249R	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	249					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					TACACAGTCAAGTTTGACTCG	0.612																																						ENST00000328969.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14						c.(745-747)aAg>aGg		zinc finger, CCCH-type with G patch domain							181.0	176.0	178.0					20																	62364966		2203	4300	6503	SO:0001583	missense	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62364966A>G	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.746A>G	20.37:g.62364966A>G	ENSP00000332013:p.Lys249Arg					ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000369967.3_Missense_Mutation_p.K249R|ZGPAT_ENST00000448100.1_Missense_Mutation_p.K249R|ZGPAT_ENST00000357119.4_Missense_Mutation_p.K249R|ZGPAT_ENST00000355969.6_Missense_Mutation_p.K249R	p.K249R	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN			4	873	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		249					E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	ENST00000328969.5	37	c.746A>G	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.489788	0.84962	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000369967;ENST00000328969	D;D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17;-3.17	5.5	3.24	0.37175	.	0.046988	0.85682	D	0.000000	D	0.95452	0.8523	M	0.74258	2.255	0.51012	D	0.999901	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.93452	0.6803	10	0.48119	T	0.1	-21.1042	8.4833	0.33057	0.8471:0.0:0.1529:0.0	.	249;249;249	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	R	249	ENSP00000391176:K249R;ENSP00000348242:K249R;ENSP00000349634:K249R;ENSP00000358984:K249R;ENSP00000332013:K249R	ENSP00000332013:K249R	K	+	2	0	ZGPAT	61835410	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	4.371000	0.59523	0.394000	0.25230	0.482000	0.46254	AAG		0.612	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		132	195	0	0	0	1	0	132	195				
KIAA0922	23240	broad.mit.edu	37	4	154544236	154544236	+	Splice_Site	SNP	G	G	A			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr4:154544236G>A	ENST00000409663.3	+	29	4094		c.e29+1		KIAA0922_ENST00000409959.3_Splice_Site|KIAA0922_ENST00000440693.1_Splice_Site	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922							integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTGCCGGCCGGTGAGTCCTGA	0.672																																						ENST00000409959.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.e29+1		KIAA0922							23.0	24.0	24.0					4																	154544236		2203	4298	6501	SO:0001630	splice_region_variant	23240					integral to membrane		g.chr4:154544236G>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4042+1G>A	4.37:g.154544236G>A						KIAA0922_ENST00000440693.1_Splice_Site|KIAA0922_ENST00000409663.3_Splice_Site		NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN			29	4094	+	all_hematologic(180;0.093)	Renal(120;0.118)						B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Splice_Site	SNP	ENST00000409663.3	37		CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039697	0.35989	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0789	0.89436	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA0922	154763686	1.000000	0.71417	0.988000	0.46212	0.048000	0.14542	6.000000	0.70678	2.713000	0.92767	0.655000	0.94253	.		0.672	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	Intron	5	14	0	0	0	1	0	5	14				
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs377377382		TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532																																						ENST00000418868.1																			0																																																			0							g.chr3:197348646T>C																													3.37:g.197348646T>C								NR_003266.2						0	613	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.532	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	73	0	0	0	1	0	5	73				
KRT26	353288	broad.mit.edu	37	17	38925341	38925341	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr17:38925341G>C	ENST00000335552.4	-	6	1025	c.977C>G	c.(976-978)tCc>tGc	p.S326C		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				GCATTCATAGGAATGTTTCTG	0.363																																						ENST00000335552.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16						c.(976-978)tCc>tGc		keratin 26							59.0	52.0	54.0					17																	38925341		2203	4300	6503	SO:0001583	missense	353288					intermediate filament	structural molecule activity	g.chr17:38925341G>C	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.977C>G	17.37:g.38925341G>C	ENSP00000334798:p.Ser326Cys						p.S326C	NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN			6	1025	-		Breast(137;0.00526)	326			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000335552.4	37	c.977C>G	CCDS11374.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124963	0.56613	.	.	ENSG00000186393	ENST00000335552	D	0.91068	-2.78	4.68	4.68	0.58851	Filament (1);	0.000000	0.52532	D	0.000070	D	0.96128	0.8738	M	0.90198	3.095	0.30012	N	0.815059	D	0.89917	1.0	D	0.91635	0.999	D	0.93509	0.6851	10	0.56958	D	0.05	.	17.5233	0.87792	0.0:0.0:1.0:0.0	.	326	Q7Z3Y9	K1C26_HUMAN	C	326	ENSP00000334798:S326C	ENSP00000334798:S326C	S	-	2	0	KRT26	36178867	0.500000	0.26091	0.587000	0.28692	0.900000	0.52787	3.624000	0.54231	2.264000	0.75181	0.591000	0.81541	TCC		0.363	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539		4	45	0	0	0	1	0	4	45				
SNW1	22938	broad.mit.edu	37	14	78184773	78184773	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr14:78184773G>C	ENST00000261531.7	-	13	1411	c.1349C>G	c.(1348-1350)cCc>cGc	p.P450R	SNW1_ENST00000554775.1_Missense_Mutation_p.P288R|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.P450R|SLIRP_ENST00000557623.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	450					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ATTTTTACTGGGCCTATAAAT	0.413																																						ENST00000261531.7																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1348-1350)cCc>cGc		SNW domain containing 1							117.0	111.0	113.0					14																	78184773		2203	4300	6503	SO:0001583	missense	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78184773G>C	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1349C>G	14.37:g.78184773G>C	ENSP00000261531:p.Pro450Arg					SNW1_ENST00000555761.1_Missense_Mutation_p.P450R|SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.P288R|SLIRP_ENST00000557431.1_Intron	p.P450R	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	13	1411	-			450					A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.1349C>G	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436936	0.83885	.	.	ENSG00000100603	ENST00000261531;ENST00000554775;ENST00000555761	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.83732	0.5318	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.85008	0.0904	9	0.72032	D	0.01	.	19.7701	0.96359	0.0:0.0:1.0:0.0	.	450;450	G3V3A4;Q13573	.;SNW1_HUMAN	R	450;288;450	.	ENSP00000261531:P450R	P	-	2	0	SNW1	77254526	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.537000	0.98070	2.690000	0.91761	0.460000	0.39030	CCC		0.413	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		27	48	0	0	0	1	0	27	48				
CROCCP2	84809	broad.mit.edu	37	1	16945409	16945409	+	lincRNA	SNP	T	T	A	rs13566	byFrequency	TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr1:16945409T>A	ENST00000412962.1	-	0	2110				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCGGGATAGCTCGGTGGAGAG	0.612													.|||	1533	0.30611	0.2254	0.3473	5008	,	,		64331	0.2113		0.3767	False		,,,				2504	0.411					ENST00000412962.1																			0																																																			0							g.chr1:16945409T>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945409T>A														0	2110	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.612	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	34	0	0	0	1	0	3	34				
C2orf73	129852	broad.mit.edu	37	2	54587362	54587362	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr2:54587362G>C	ENST00000398634.2	+	5	569	c.527G>C	c.(526-528)aGa>aCa	p.R176T	C2orf73_ENST00000405749.1_Intron|C2orf73_ENST00000491538.1_3'UTR	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	176										breast(2)	2						TTTGTACAGAGAGAGATAAAA	0.448																																						ENST00000398634.2																			0				breast(2)	2						c.(526-528)aGa>aCa		chromosome 2 open reading frame 73							46.0	45.0	45.0					2																	54587362		1907	4133	6040	SO:0001583	missense	129852							g.chr2:54587362G>C	BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.527G>C	2.37:g.54587362G>C	ENSP00000381631:p.Arg176Thr					C2orf73_ENST00000491538.1_3'UTR|C2orf73_ENST00000405749.1_Intron	p.R176T	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN			5	569	+			176					A0AV79|A0AV81|Q8N7V4	Missense_Mutation	SNP	ENST00000398634.2	37	c.527G>C	CCDS46285.1	.	.	.	.	.	.	.	.	.	.	G	9.169	1.020696	0.19433	.	.	ENSG00000177994	ENST00000486488;ENST00000398634;ENST00000447328	T;T;T	0.30182	1.54;1.54;1.54	5.35	1.49	0.22878	.	0.354493	0.26366	N	0.024799	T	0.10551	0.0258	N	0.02391	-0.57	0.27569	N	0.949956	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.32929	-0.9888	10	0.12766	T	0.61	-21.3644	9.6479	0.39879	0.0:0.6598:0.1739:0.1663	.	118;176	B7ZM12;Q8N5S3	.;CB073_HUMAN	T	182;176;118	ENSP00000417971:R182T;ENSP00000381631:R176T;ENSP00000389570:R118T	ENSP00000381631:R176T	R	+	2	0	C2orf73	54440866	1.000000	0.71417	0.988000	0.46212	0.987000	0.75469	1.963000	0.40452	0.057000	0.16193	0.650000	0.86243	AGA		0.448	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324075.2	NM_001100396		3	8	0	0	0	1	0	3	8				
FOXM1	2305	broad.mit.edu	37	12	2983155	2983155	+	Missense_Mutation	SNP	G	G	A	rs143720765		TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr12:2983155G>A	ENST00000359843.3	-	2	558	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000361953.3_Missense_Mutation_p.R164W|FOXM1_ENST00000342628.2_Missense_Mutation_p.R164W	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	164					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CAGGTCTCCCGTTTCTGCTCG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		18708	0.0		0.001	False		,,,				2504	0.0					ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(490-492)Cgg>Tgg		forkhead box M1		G	TRP/ARG,TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	113.0	110.0	111.0		490,490,490	-2.5	0.0	12	dbSNP_134	111	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense,missense	FOXM1	NM_021953.3,NM_202002.2,NM_202003.2	101,101,101	0,9,6494	AA,AG,GG		0.0814,0.0454,0.0692	benign,benign,benign	164/764,164/802,164/749	2983155	9,12997	2203	4300	6503	SO:0001583	missense	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2983155G>A	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.490C>T	12.37:g.2983155G>A	ENSP00000352901:p.Arg164Trp					FOXM1_ENST00000359843.3_Missense_Mutation_p.R164W|FOXM1_ENST00000361953.3_Missense_Mutation_p.R164W|FOXM1_ENST00000537018.1_5'UTR	p.R164W	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		2	603	-			164					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	ENST00000359843.3	37	c.490C>T	CCDS8515.1	.	.	.	.	.	.	.	.	.	.	G	6.829	0.522032	0.13005	4.54E-4	8.14E-4	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.93019	-3.08;-3.15;-3.07	4.76	-2.5	0.06384	.	1.201950	0.05602	N	0.576586	T	0.71863	0.3390	N	0.00237	-1.79	0.09310	N	1	B;B;B;B;B	0.15141	0.001;0.001;0.002;0.001;0.012	B;B;B;B;B	0.09377	0.001;0.001;0.001;0.001;0.004	T	0.66685	-0.5861	10	0.20046	T	0.44	.	4.1554	0.10258	0.5264:0.0:0.1954:0.2782	.	164;164;164;164;164	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	W	164	ENSP00000342307:R164W;ENSP00000354492:R164W;ENSP00000352901:R164W	ENSP00000342307:R164W	R	-	1	2	FOXM1	2853416	0.590000	0.26815	0.001000	0.08648	0.011000	0.07611	0.603000	0.24149	-0.365000	0.08076	-0.253000	0.11424	CGG		0.537	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		24	42	0	0	0	1	0	24	42				
MUC16	94025	broad.mit.edu	37	19	9087137	9087137	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr19:9087137C>T	ENST00000397910.4	-	1	4881	c.4678G>A	c.(4678-4680)Gca>Aca	p.A1560T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1560	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCATCGTTGCAGAAAGGGTG	0.498																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(4678-4680)Gca>Aca		mucin 16, cell surface associated							413.0	390.0	398.0					19																	9087137		2087	4228	6315	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087137C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4678G>A	19.37:g.9087137C>T	ENSP00000381008:p.Ala1560Thr						p.A1560T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	4881	-			1560			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.4678G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.332	0.060994	0.08339	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	0.235	0.235	0.15431	.	.	.	.	.	T	0.03959	0.0111	N	0.08118	0	.	.	.	D	0.60575	0.988	P	0.62885	0.908	T	0.46105	-0.9215	7	0.87932	D	0	.	.	.	.	.	1560	B5ME49	.	T	1560	ENSP00000381008:A1560T	ENSP00000381008:A1560T	A	-	1	0	MUC16	8948137	0.000000	0.05858	0.115000	0.21578	0.119000	0.20118	-0.918000	0.04021	0.308000	0.22923	0.313000	0.20887	GCA		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	168	0	0	0	1	0	4	168				
ITFG1	81533	broad.mit.edu	37	16	47196504	47196504	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr16:47196504C>T	ENST00000320640.6	-	15	1753	c.1525G>A	c.(1525-1527)Gca>Aca	p.A509T	ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Missense_Mutation_p.A396T|RP11-329J18.2_ENST00000565694.1_RNA|RP11-329J18.2_ENST00000564705.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	509						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				AGAAAATTTGCGCTCCGACCT	0.358																																						ENST00000320640.6																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1525-1527)Gca>Aca		integrin alpha FG-GAP repeat containing 1							101.0	103.0	102.0					16																	47196504		2202	4300	6502	SO:0001583	missense	81533					extracellular region|integral to membrane		g.chr16:47196504C>T	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1525G>A	16.37:g.47196504C>T	ENSP00000319918:p.Ala509Thr					RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000544001.2_Missense_Mutation_p.A396T|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000568047.1_5'UTR	p.A509T	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN			15	1753	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	509					Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	c.1525G>A	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478197	0.96291	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	T;T	0.62498	0.02;0.02	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	L	0.45581	1.43	0.80722	D	1	P;D	0.89917	0.953;1.0	B;D	0.66084	0.292;0.941	T	0.62469	-0.6848	10	0.02654	T	1	-17.4271	19.4863	0.95030	0.0:1.0:0.0:0.0	.	396;509	F5GXC5;Q8TB96	.;TIP_HUMAN	T	509;169;254;396	ENSP00000319918:A509T;ENSP00000441062:A396T	ENSP00000319918:A509T	A	-	1	0	ITFG1	45754005	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	5.177000	0.65032	2.618000	0.88619	0.591000	0.81541	GCA		0.358	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		4	110	0	0	0	1	0	4	110				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		3	24	0	0	0	1	0	3	24				
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		2	Deletion - Frameshift(2)	p.P6fs*27(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(16-18)cfs		notch 2																																				SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612003_120612004delGG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs						p.P6fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	236_237	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	6					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.17_18delCC	CCDS908.1																																																																																				0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		6	10						6	10	---	---	---	---
KIAA1804	84451	broad.mit.edu	37	1	233482217	233482219	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr1:233482217_233482219delGAC	ENST00000366624.3	+	2	1096_1098	c.835_837delGAC	c.(835-837)gacdel	p.D279del	MLK4_ENST00000366623.3_In_Frame_Del_p.D279del	NM_032435.2	NP_115811.2																					AGAACATGATGACATCTGCAATA	0.394																																						ENST00000366624.3																			0											c.(835-837)del																																						SO:0001651	inframe_deletion	0							g.chr1:233482217_233482219delGAC																												ENST00000366624.3:c.835_837delGAC	1.37:g.233482217_233482219delGAC	ENSP00000355583:p.Asp279del					MLK4_ENST00000366623.3_In_Frame_Del_p.D279del	p.D279del	NM_032435.2	NP_115811.2					2	1096_1098	+									In_Frame_Del	DEL	ENST00000366624.3	37	c.835_837delGAC	CCDS1598.1																																																																																				0.394	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			19	40						19	40	---	---	---	---
FER1L5	90342	broad.mit.edu	37	2	97364482	97364483	+	RNA	DEL	AG	AG	-			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr2:97364482_97364483delAG	ENST00000457909.1	+	0	3934_3935							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TGGTTTGGCCAGAGAGAGAGGA	0.604																																						ENST00000457909.1																			0				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38								fer-1-like 5 (C. elegans)																																						90342					integral to membrane		g.chr2:97364482_97364483delAG	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97364490_97364491delAG										A0AVI2	FR1L5_HUMAN			0	3934_3935	+								Q17RH2|Q6ZU24	RNA	DEL	ENST00000457909.1	37																																																																																						0.604	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		2	4						2	4	---	---	---	---
NCKIPSD	51517	broad.mit.edu	37	3	48711990	48711991	+	Frame_Shift_Ins	INS	-	-	C			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr3:48711990_48711991insC	ENST00000294129.2	-	13	2274_2275	c.2155_2156insG	c.(2155-2157)gagfs	p.E719fs	RP11-572O6.1_ENST00000607025.1_lincRNA|NCKIPSD_ENST00000416649.2_Frame_Shift_Ins_p.E712fs|NCKIPSD_ENST00000341520.4_Intron	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	719					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCTGGGAGCCTCCCCCAGCACC	0.579																																						ENST00000294129.2																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.(2155-2157)ggcfs		NCK interacting protein with SH3 domain																																				SO:0001589	frameshift_variant	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48711990_48711991insC	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.2156dupG	3.37:g.48711995_48711995dupC	ENSP00000294129:p.Glu719fs					NCKIPSD_ENST00000341520.4_Intron|NCKIPSD_ENST00000416649.2_Frame_Shift_Ins_p.G712fs	p.G719fs	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	13	2274_2275	-			719					B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Frame_Shift_Ins	INS	ENST00000294129.2	37	c.2155_2156insG	CCDS2776.1																																																																																				0.579	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453		2	4						2	4	---	---	---	---
LINC00882	100302640	broad.mit.edu	37	3	106824710	106824710	+	lincRNA	DEL	T	T	-	rs57565986	byFrequency	TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr3:106824710delT	ENST00000484698.1	-	0	295									long intergenic non-protein coding RNA 882																		tttttatatcttttttttttt	0.448													|||unknown(HR)	3314	0.661741	0.6672	0.6138	5008	,	,		17759	0.6111		0.67	False		,,,				2504	0.7321					ENST00000484698.1																			0																																																			0							g.chr3:106824710delT			3q13.12	2014-06-03			ENSG00000242759	ENSG00000242759		"""Long non-coding RNAs"""	48568	non-coding RNA	RNA, long non-coding						24886442	Standard	NR_028303		Approved				OTTHUMG00000159196		3.37:g.106824710delT														0	295	-									RNA	DEL	ENST00000484698.1	37																																																																																						0.448	LINC00882-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353788.1			2	4						2	4	---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103901076	103901077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr10:103901076_103901077insC	ENST00000278070.2	+	5	2850_2851	c.2811_2812insC	c.(2812-2814)cccfs	p.P938fs	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Frame_Shift_Ins_p.P938fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	938	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ATCCTTGCCTGCCCCCCCCACC	0.604																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(2809-2814)ctccccfs		peroxisome proliferator-activated receptor gamma, coactivator-related 1																																				SO:0001589	frameshift_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103901076_103901077insC	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2819dupC	10.37:g.103901084_103901084dupC	ENSP00000278070:p.Pro938fs					PPRC1_ENST00000413464.2_Frame_Shift_Ins_p.LP937fs	p.LP937fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	2850_2851	+		Colorectal(252;0.122)	937			Pro-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Frame_Shift_Ins	INS	ENST00000278070.2	37	c.2811_2812insC	CCDS7529.1																																																																																				0.604	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		16	42						16	42	---	---	---	---
ARL2BPP3	646879	broad.mit.edu	37	13	37368677	37368677	+	RNA	DEL	T	T	-			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr13:37368677delT	ENST00000580773.1	+	0	271									ADP-ribosylation factor-like 2 binding protein pseudogene 3																		CTGATGCACATTTTGATGCTG	0.458																																						ENST00000580773.1																			0																																																			0							g.chr13:37368677delT			13q13.3	2011-01-14			ENSG00000215486	ENSG00000215486			39447	pseudogene	pseudogene							Standard	NG_022943		Approved				OTTHUMG00000016739		13.37:g.37368677delT														0	271	+									RNA	DEL	ENST00000580773.1	37																																																																																						0.458	ARL2BPP3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442891.1	NG_022943		2	4						2	4	---	---	---	---
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473095	22473096	+	RNA	INS	-	-	G	rs377032678		TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr15:22473095_22473096insG	ENST00000557788.2	-	0	174_175							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											CCCTGGGGGCTGGCGGACCCAG	0.594																																						ENST00000557788.2																			0																																																			0							g.chr15:22473095_22473096insG	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473097_22473097dupG														0	174_175	-									RNA	INS	ENST00000557788.2	37																																																																																						0.594	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			7	162						7	162	---	---	---	---
MGA	23269	broad.mit.edu	37	15	42035324	42035325	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr15:42035324_42035325delTA	ENST00000570161.1	+	14	5166_5167	c.5166_5167delTA	c.(5164-5169)attatafs	p.II1722fs	MGA_ENST00000219905.7_Frame_Shift_Del_p.II1722fs|MGA_ENST00000566586.1_Intron|MGA_ENST00000389936.4_Frame_Shift_Del_p.II1722fs|MGA_ENST00000545763.1_Intron			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGTTCCTATTATACTCTCAGG	0.465																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(5164-5169)attafs		MGA, MAX dimerization protein																																				SO:0001589	frameshift_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42035324_42035325delTA	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5166_5167delTA	15.37:g.42035326_42035327delTA	ENSP00000457035:p.Ile1722fs					MGA_ENST00000570161.1_Frame_Shift_Del_p.II1722fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.II1722fs|MGA_ENST00000566586.1_Intron|MGA_ENST00000545763.1_Intron	p.II1722fs	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	15	5347_5348	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1722					Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000570161.1	37	c.5166_5167delTA	CCDS55959.1																																																																																				0.465	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		8	15						8	15	---	---	---	---
