#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
PUM2	23369	broad.mit.edu	37	2	20463176	20463176	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr2:20463176C>T	ENST00000361078.2	-	13	2025	c.2003G>A	c.(2002-2004)gGa>gAa	p.G668E	PUM2_ENST00000536417.1_Missense_Mutation_p.G612E|PUM2_ENST00000319801.5_Missense_Mutation_p.G589E|PUM2_ENST00000403432.1_Missense_Mutation_p.G668E|PUM2_ENST00000338086.5_Missense_Mutation_p.G668E			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	668	Ser-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTTCTGCTCCAGGTGCTGC	0.443																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(2002-2004)gGa>gAa		pumilio RNA-binding family member 2							76.0	74.0	75.0					2																	20463176		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20463176C>T	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2003G>A	2.37:g.20463176C>T	ENSP00000354370:p.Gly668Glu					PUM2_ENST00000338086.5_Missense_Mutation_p.G668E|PUM2_ENST00000536417.1_Missense_Mutation_p.G612E|PUM2_ENST00000403432.1_Missense_Mutation_p.G668E|PUM2_ENST00000319801.5_Missense_Mutation_p.G589E	p.G668E			Q8TB72	PUM2_HUMAN			13	2025	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		668			Ser-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.2003G>A		.	.	.	.	.	.	.	.	.	.	C	29.7	5.028180	0.93518	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.21361	2.01;2.3;2.32;2.08;2.01;2.01	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.998	T	0.43065	-0.9414	10	0.62326	D	0.03	-9.4864	19.325	0.94258	0.0:1.0:0.0:0.0	.	612;589;668;668	B4E2B6;B7ZL34;Q8TB72-3;Q8TB72	.;.;.;PUM2_HUMAN	E	668;668;589;480;668;612	ENSP00000338173:G668E;ENSP00000354370:G668E;ENSP00000326746:G589E;ENSP00000409905:G480E;ENSP00000385992:G668E;ENSP00000440093:G612E	ENSP00000326746:G589E	G	-	2	0	PUM2	20326657	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.572000	0.86782	0.655000	0.94253	GGA		0.443	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		43	63	0	0	0	1	0	43	63				
PADI1	29943	broad.mit.edu	37	1	17548858	17548858	+	Missense_Mutation	SNP	C	C	T	rs142259163		TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr1:17548858C>T	ENST00000375471.4	+	2	258	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	56					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.R56C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GGTCTACAACCGCACACGTGT	0.552																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	ENST00000375471.4																			1	Substitution - Missense(1)	p.R56C(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(166-168)Cgc>Tgc		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)		CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	130.0	120.0	123.0		166	1.9	0.0	1	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense	PADI1	NM_013358.2	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	56/664	17548858	2,13004	2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17548858C>T	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.166C>T	1.37:g.17548858C>T	ENSP00000364620:p.Arg56Cys						p.R56C	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	2	258	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	56					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.166C>T	CCDS178.1	.	.	.	.	.	.	.	.	.	.	c	3.633	-0.075107	0.07184	2.27E-4	1.16E-4	ENSG00000142623	ENST00000375471	T	0.08282	3.11	3.87	1.94	0.25998	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	0.179400	0.36665	U	0.002463	T	0.05547	0.0146	N	0.19112	0.55	0.09310	N	0.999999	P	0.52316	0.952	B	0.43783	0.431	T	0.35425	-0.9789	10	0.36615	T	0.2	-4.1982	7.0036	0.24823	0.1981:0.6104:0.1915:0.0	.	56	Q9ULC6	PADI1_HUMAN	C	56	ENSP00000364620:R56C	ENSP00000364620:R56C	R	+	1	0	PADI1	17421445	0.008000	0.16893	0.001000	0.08648	0.059000	0.15707	0.129000	0.15830	0.242000	0.21303	-0.828000	0.03084	CGC		0.552	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		6	33	0	0	0	1	0	6	33				
COL4A6	1288	broad.mit.edu	37	X	107413898	107413898	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chrX:107413898G>A	ENST00000372216.4	-	35	3537	c.3437C>T	c.(3436-3438)tCt>tTt	p.S1146F	COL4A6_ENST00000394872.2_Missense_Mutation_p.S1146F|COL4A6_ENST00000545689.1_Missense_Mutation_p.S1145F|COL4A6_ENST00000538570.1_Missense_Mutation_p.S1145F|COL4A6_ENST00000334504.7_Missense_Mutation_p.S1145F	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1146	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GTGACCAGAAGAACCTGGAAG	0.512									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000334504.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(3433-3435)tCt>tTt		collagen, type IV, alpha 6							155.0	160.0	159.0					X																	107413898		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107413898G>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3437C>T	X.37:g.107413898G>A	ENSP00000361290:p.Ser1146Phe					COL4A6_ENST00000372216.4_Missense_Mutation_p.S1146F|COL4A6_ENST00000545689.1_Missense_Mutation_p.S1145F|COL4A6_ENST00000538570.1_Missense_Mutation_p.S1145F|COL4A6_ENST00000394872.2_Missense_Mutation_p.S1146F	p.S1145F	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN			35	3667	-			1146			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.3434C>T	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	0.502	-0.870389	0.02570	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.3;-3.43	5.08	4.17	0.49024	.	0.357320	0.20698	N	0.087327	D	0.89097	0.6618	L	0.43152	1.355	0.09310	N	0.999996	B;B;B;B	0.25272	0.1;0.003;0.122;0.1	B;B;B;B	0.22386	0.023;0.004;0.039;0.023	T	0.74569	-0.3622	10	0.10111	T	0.7	.	8.189	0.31357	0.2001:0.0:0.7999:0.0	.	1145;1145;1146;1145	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	F	1146;1145;1146;1145;1145;1145	ENSP00000361290:S1146F;ENSP00000334733:S1145F;ENSP00000378340:S1146F;ENSP00000443707:S1145F;ENSP00000445236:S1145F	ENSP00000334733:S1145F	S	-	2	0	COL4A6	107300554	0.799000	0.28903	0.696000	0.30242	0.010000	0.07245	1.429000	0.34903	1.147000	0.42369	0.600000	0.82982	TCT		0.512	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			5	153	0	0	0	1	0	5	153				
RPS12	6206	broad.mit.edu	37	6	133138155	133138155	+	Silent	SNP	G	G	A	rs1052683		TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr6:133138155G>A	ENST00000230050.3	+	5	501	c.291G>A	c.(289-291)gaG>gaA	p.E97E	SNORA33_ENST00000363664.1_RNA|SNORD101_ENST00000384027.1_RNA|SNORD100_ENST00000408573.1_RNA	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12	97					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		TTGACAGAGAGGGGAAACCCC	0.373																																						ENST00000230050.3																			0				endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18						c.(289-291)gaG>gaA		ribosomal protein S12							63.0	61.0	62.0					6																	133138155		2203	4300	6503	SO:0001819	synonymous_variant	6206				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome	g.chr6:133138155G>A	X53505	CCDS5164.1	6q23	2011-04-05			ENSG00000112306	ENSG00000112306		"""S ribosomal proteins"""	10385	protein-coding gene	gene with protein product		603660				1861993, 9582194	Standard	NM_001016		Approved	S12	uc003qdx.3	P25398	OTTHUMG00000015593	ENST00000230050.3:c.291G>A	6.37:g.133138155G>A							p.E97E	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)	5	501	+	Breast(56;0.214)		97					Q76M58	Silent	SNP	ENST00000230050.3	37	c.291G>A	CCDS5164.1																																																																																				0.373	RPS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042270.2	NM_001016		3	38	0	0	0	1	0	3	38				
C12orf45	121053	broad.mit.edu	37	12	105385571	105385571	+	Missense_Mutation	SNP	C	C	G			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr12:105385571C>G	ENST00000552951.1	+	3	327	c.284C>G	c.(283-285)cCt>cGt	p.P95R	C12orf45_ENST00000280749.5_Intron	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	95										large_intestine(1)|lung(2)	3						GCTGCACCACCTGGTCGTTTC	0.403																																						ENST00000552951.1																			0				large_intestine(1)|lung(2)	3						c.(283-285)cCt>cGt		chromosome 12 open reading frame 45							87.0	84.0	85.0					12																	105385571		1869	4097	5966	SO:0001583	missense	121053							g.chr12:105385571C>G	BC032326	CCDS41825.1	12q23.3	2012-05-30			ENSG00000151131	ENSG00000151131			28628	protein-coding gene	gene with protein product						12477932	Standard	NM_152318		Approved	MGC40397	uc001tlb.3	Q8N5I9	OTTHUMG00000169822	ENST00000552951.1:c.284C>G	12.37:g.105385571C>G	ENSP00000447057:p.Pro95Arg					C12orf45_ENST00000280749.5_Intron	p.P95R	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN			3	327	+			95						Missense_Mutation	SNP	ENST00000552951.1	37	c.284C>G	CCDS41825.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719397	0.30503	.	.	ENSG00000151131	ENST00000552951	T	0.35421	1.31	4.86	3.96	0.45880	.	0.240666	0.40469	N	0.001087	T	0.50633	0.1627	M	0.73962	2.25	0.23598	N	0.997325	D	0.67145	0.996	D	0.64410	0.925	T	0.39502	-0.9611	10	0.28530	T	0.3	-12.5255	6.1849	0.20491	0.1874:0.7182:0.0:0.0944	.	95	Q8N5I9	CL045_HUMAN	R	95	ENSP00000447057:P95R	ENSP00000447057:P95R	P	+	2	0	C12orf45	103909701	0.931000	0.31567	0.997000	0.53966	0.016000	0.09150	2.197000	0.42696	1.037000	0.40024	-0.282000	0.10007	CCT		0.403	C12orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406076.1	NM_152318		8	62	0	0	0	1	0	8	62				
HEATR9	256957	broad.mit.edu	37	17	34182738	34182738	+	Missense_Mutation	SNP	C	C	T	rs115744817	byFrequency	TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr17:34182738C>T	ENST00000311880.2	-	14	1443	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	C17orf66_ENST00000592980.1_Missense_Mutation_p.R392H	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		432					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TTGTGGACTGCGGATCCCCAG	0.532													C|||	6	0.00119808	0.0015	0.0	5008	,	,		19585	0.004		0.0	False		,,,				2504	0.0					ENST00000311880.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38						c.(1294-1296)cGc>cAc		chromosome 17 open reading frame 66		C	HIS/ARG	10,4396	16.8+/-37.8	0,10,2193	100.0	94.0	96.0		1295	3.3	1.0	17	dbSNP_132	96	0,8600		0,0,4300	yes	missense	C17orf66	NM_152781.2	29	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	probably-damaging	432/571	34182738	10,12996	2203	4300	6503	SO:0001583	missense	256957						binding	g.chr17:34182738C>T																												ENST00000311880.2:c.1295G>A	17.37:g.34182738C>T	ENSP00000309560:p.Arg432His					C17orf66_ENST00000592980.1_Missense_Mutation_p.R392H	p.R432H	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	14	1443	-		Ovarian(249;0.17)	432					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	c.1295G>A	CCDS11299.1	4	0.0018315018315018315	3	0.006097560975609756	0	0.0	1	0.0017482517482517483	0	0.0	C	18.44	3.623786	0.66901	0.00227	0.0	ENSG00000172653	ENST00000311880	T	0.48201	0.82	4.29	3.31	0.37934	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.44285	D	0.000468	T	0.24586	0.0596	L	0.32530	0.975	0.80722	D	1	P;P	0.38729	0.591;0.644	B;B	0.35353	0.127;0.201	T	0.05084	-1.0907	10	0.42905	T	0.14	.	7.9068	0.29767	0.0:0.8858:0.0:0.1142	.	392;432	A2RTY3-3;A2RTY3	.;CQ066_HUMAN	H	432	ENSP00000309560:R432H	ENSP00000309560:R432H	R	-	2	0	C17orf66	31206851	0.955000	0.32602	0.994000	0.49952	0.957000	0.61999	1.954000	0.40362	1.012000	0.39366	0.563000	0.77884	CGC		0.532	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			3	41	0	0	0	1	0	3	41				
PGAM4	441531	broad.mit.edu	37	X	77224418	77224418	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chrX:77224418A>G	ENST00000458128.1	-	1	717	c.718T>C	c.(718-720)Tgc>Cgc	p.C240R	ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	240					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)	p.C240R(1)		endometrium(2)|lung(4)	6						ATGGCTTTGCACACCGTCTCT	0.562																																						ENST00000458128.1																			1	Substitution - Missense(1)	p.C240R(1)	lung(1)	endometrium(2)|lung(4)	6						c.(718-720)Tgc>Cgc		phosphoglycerate mutase family member 4							62.0	57.0	59.0					X																	77224418		2203	4296	6499	SO:0001583	missense	441531				glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77224418A>G	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"""phosphoglycerate mutase family 4"""			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.718T>C	X.37:g.77224418A>G	ENSP00000412189:p.Cys240Arg					ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron	p.C240R	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN			1	717	-			240					Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Missense_Mutation	SNP	ENST00000458128.1	37	c.718T>C	CCDS35338.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-2.952992	0.00050	.	.	ENSG00000226784	ENST00000458128	T	0.78707	-1.2	0.119	-0.238	0.13055	.	0.237591	0.33980	N	0.004367	T	0.32133	0.0819	N	0.00175	-1.925	0.26241	N	0.97887	B	0.02656	0.0	B	0.01281	0.0	T	0.39921	-0.9590	9	.	.	.	-27.5229	5.1219	0.14865	0.2887:0.0:0.7113:0.0	.	240	Q8N0Y7	PGAM4_HUMAN	R	240	ENSP00000412189:C240R	.	C	-	1	0	PGAM4	77111074	0.991000	0.36638	0.061000	0.19648	0.062000	0.15995	1.249000	0.32839	-1.865000	0.01147	-1.846000	0.00573	TGC		0.562	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2	NM_001029891		4	97	0	0	0	1	0	4	97				
NPIPB6	728741	broad.mit.edu	37	16	28354353	28354353	+	Missense_Mutation	SNP	T	T	G	rs1794256	byFrequency	TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr16:28354353T>G	ENST00000532254.1	-	7	1538	c.853A>C	c.(853-855)Act>Cct	p.T285P	NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P	NM_001282524.1	NP_001269453.1	E9PJ23	NPIB6_HUMAN	nuclear pore complex interacting protein family, member B6	285	Pro-rich.							p.T285P(4)									AGACACTCAGTAGGTGTCTTG	0.507													.|||	997	0.199081	0.2231	0.3617	5008	,	,		17318	0.1865		0.1839	False		,,,				2504	0.0798					ENST00000532254.1																			4	Substitution - Missense(4)	p.T285P(4)	urinary_tract(2)|endometrium(2)								c.(853-855)Act>Cct		nuclear pore complex interacting protein family, member B6																																				SO:0001583	missense	728741							g.chr16:28354353T>G		CCDS61892.1	16p11.2	2013-06-11			ENSG00000198156	ENSG00000198156			37454	protein-coding gene	gene with protein product							Standard	XM_005255741		Approved			E9PJ23	OTTHUMG00000166319	ENST00000532254.1:c.853A>C	16.37:g.28354353T>G	ENSP00000431871:p.Thr285Pro					NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P	p.T285P							7	1538	-									Missense_Mutation	SNP	ENST00000532254.1	37	c.853A>C		.	.	.	.	.	.	.	.	.	.	-	0.001	-4.151814	0.00001	.	.	ENSG00000198156	ENST00000533640;ENST00000532254	T;T	0.24908	1.83;1.83	.	.	.	.	.	.	.	.	T	0.03915	0.0110	N	0.00823	-1.155	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.17349	-1.0372	6	0.02654	T	1	.	.	.	.	rs1794256	285;267	E9PJ23;E9PS57	.;.	P	267;285	ENSP00000435924:T267P;ENSP00000431871:T285P	ENSP00000431871:T285P	T	-	1	0	RP11-57A19.3	28261854	0.006000	0.16342	0.001000	0.08648	0.001000	0.01503	-2.356000	0.01087	-4.094000	0.00074	-4.079000	0.00012	ACT		0.507	NPIPB6-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389133.1	XM_001717652		3	26	0	0	0	1	0	3	26				
SZT2	23334	broad.mit.edu	37	1	43905438	43905438	+	Nonsense_Mutation	SNP	C	C	G			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr1:43905438C>G	ENST00000562955.1	+	49	6869	c.6869C>G	c.(6868-6870)tCa>tGa	p.S2290*	SZT2_ENST00000372442.1_Nonsense_Mutation_p.S1448*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2347					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GACAGTTCTTCAGGTGGGACA	0.587																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(6868-6870)tCa>tGa		seizure threshold 2 homolog (mouse)							52.0	55.0	54.0					1																	43905438		2203	4300	6503	SO:0001587	stop_gained	23334					peroxisome		g.chr1:43905438C>G	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.6869C>G	1.37:g.43905438C>G	ENSP00000457168:p.Ser2290*					SZT2_ENST00000372442.1_Nonsense_Mutation_p.S1448*	p.S2290*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			49	6869	+			2347					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Nonsense_Mutation	SNP	ENST00000562955.1	37	c.6869C>G	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	46	12.251911	0.99650	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.84	4.92	0.64577	.	1.069310	0.07227	N	0.861900	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	14.8996	0.70670	0.1429:0.8571:0.0:0.0	.	.	.	.	X	1448	.	ENSP00000361519:S1448X	S	+	2	0	SZT2	43678025	0.759000	0.28416	0.981000	0.43875	0.865000	0.49528	2.143000	0.42187	1.445000	0.47624	0.655000	0.94253	TCA		0.587	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		14	4	0	0	0	1	0	14	4				
SHISA2	387914	broad.mit.edu	37	13	26621012	26621012	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr13:26621012G>A	ENST00000319420.3	-	2	582	c.527C>T	c.(526-528)tCg>tTg	p.S176L		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	176					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						GCGTGAGGACGACCCCCGGGA	0.667																																						ENST00000319420.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						c.(526-528)tCg>tTg		shisa family member 2							47.0	53.0	51.0					13																	26621012		2203	4300	6503	SO:0001583	missense	387914				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr13:26621012G>A		CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"""Shisa homologs"""	20366	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 13"", ""transmembrane protein 46"", ""shisa homolog 2 (Xenopus laevis)"""	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.527C>T	13.37:g.26621012G>A	ENSP00000313079:p.Ser176Leu						p.S176L	NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN			2	582	-			176					B9EH70|Q5W0G8	Missense_Mutation	SNP	ENST00000319420.3	37	c.527C>T	CCDS31951.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228840	0.79576	.	.	ENSG00000180730	ENST00000319420	T	0.42900	0.96	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.57562	0.2062	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.50767	-0.8789	10	0.12103	T	0.63	-22.2546	18.2478	0.89992	0.0:0.0:1.0:0.0	.	176	Q6UWI4	SHSA2_HUMAN	L	176	ENSP00000313079:S176L	ENSP00000313079:S176L	S	-	2	0	SHISA2	25519012	1.000000	0.71417	0.034000	0.17996	0.440000	0.31957	9.800000	0.99124	2.304000	0.77564	0.650000	0.86243	TCG		0.667	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2	NM_001007538		35	38	0	0	0	1	0	35	38				
TTN	7273	broad.mit.edu	37	2	179430601	179430601	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr2:179430601T>C	ENST00000591111.1	-	276	75559	c.75335A>G	c.(75334-75336)tAt>tGt	p.Y25112C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y24185C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y17880C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y26753C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y17813C|TTN_ENST00000460472.2_Missense_Mutation_p.Y17688C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25112	Fibronectin type-III 82. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGAAGTAATAAATGGCTCC	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(80257-80259)tAt>tGt		titin							171.0	163.0	165.0					2																	179430601		1919	4119	6038	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430601T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.75335A>G	2.37:g.179430601T>C	ENSP00000465570:p.Tyr25112Cys					TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y17813C|TTN_ENST00000342175.6_Missense_Mutation_p.Y17880C|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y24185C|TTN_ENST00000460472.2_Missense_Mutation_p.Y17688C|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y25112C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA	p.Y26753C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	80482	-			25112			Ig-like 128.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.80258A>G		.	.	.	.	.	.	.	.	.	.	T	10.29	1.310408	0.23821	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	5.81	5.81	0.92471	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.97244	0.9099	H	0.99425	4.56	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.995;0.995;0.995;0.997	D	0.99136	1.0854	9	0.87932	D	0	.	16.1538	0.81644	0.0:0.0:0.0:1.0	.	17688;17813;17880;25112	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	24185;17688;17880;17813;17686	ENSP00000343764:Y24185C;ENSP00000434586:Y17688C;ENSP00000340554:Y17880C;ENSP00000352154:Y17813C	ENSP00000340554:Y17880C	Y	-	2	0	TTN	179138847	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	5.011000	0.64011	2.221000	0.72209	0.454000	0.30748	TAT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	123	0	0	0	1	0	12	123				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	6	26	0	0	0	1	0	6	26				
AIFM1	9131	broad.mit.edu	37	X	129265714	129265714	+	Silent	SNP	G	G	A	rs373137270		TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chrX:129265714G>A	ENST00000287295.3	-	14	1739	c.1509C>T	c.(1507-1509)ccC>ccT	p.P503P	AIFM1_ENST00000346424.2_Silent_p.P216P|AIFM1_ENST00000440263.1_Silent_p.P151P|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000460436.2_Silent_p.P164P|AIFM1_ENST00000319908.3_Silent_p.P499P	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	503					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CACCAACTGTGGGCAAACTAC	0.478																																						ENST00000287295.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						c.(1507-1509)ccC>ccT		apoptosis-inducing factor, mitochondrion-associated, 1		G	,,,,	0,3835		0,0,0,1632,571	190.0	163.0	172.0		453,,1509,1497,648	4.8	1.0	X		172	1,6727		0,0,1,2428,1871	no	coding-synonymous,utr-3,coding-synonymous,coding-synonymous,coding-synonymous	AIFM1	NM_001130846.2,NM_001130847.3,NM_004208.3,NM_145812.2,NM_145813.2	,,,,	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	,,,,	151/262,,503/614,499/610,216/327	129265714	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129265714G>A	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1509C>T	X.37:g.129265714G>A						AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000460436.2_Silent_p.P164P|AIFM1_ENST00000346424.2_Silent_p.P216P|AIFM1_ENST00000440263.1_Silent_p.P151P|AIFM1_ENST00000319908.3_Silent_p.P499P	p.P503P	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN			14	1739	-			503					A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Silent	SNP	ENST00000287295.3	37	c.1509C>T	CCDS14618.1																																																																																				0.478	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			11	175	0	0	0	1	0	11	175				
KIAA0556	23247	broad.mit.edu	37	16	27752044	27752044	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr16:27752044G>A	ENST00000261588.4	+	15	2445	c.2426G>A	c.(2425-2427)cGg>cAg	p.R809Q		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	809						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AAAGGCCTACGGCATGAGCCA	0.597																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(2425-2427)cGg>cAg		KIAA0556							45.0	49.0	48.0					16																	27752044		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27752044G>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2426G>A	16.37:g.27752044G>A	ENSP00000261588:p.Arg809Gln						p.R809Q	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			15	2445	+			809					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.2426G>A	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289242	0.23478	.	.	ENSG00000047578	ENST00000261588	T	0.10382	2.88	4.94	-0.837	0.10766	.	0.539605	0.19894	N	0.103678	T	0.09069	0.0224	M	0.62723	1.935	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.27262	-1.0079	10	0.30078	T	0.28	-11.7257	3.5363	0.07795	0.3479:0.0:0.3806:0.2715	.	809	O60303	K0556_HUMAN	Q	809	ENSP00000261588:R809Q	ENSP00000261588:R809Q	R	+	2	0	KIAA0556	27659545	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.304000	0.19228	-0.124000	0.11724	-1.683000	0.00735	CGG		0.597	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		15	19	0	0	0	1	0	15	19				
TRMT61B	55006	broad.mit.edu	37	2	29072796	29072796	+	3'UTR	SNP	A	A	C			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr2:29072796A>C	ENST00000306108.5	-	0	1726				TRMT61B_ENST00000484060.1_5'Flank|SPDYA_ENST00000379579.4_Missense_Mutation_p.S311R|SPDYA_ENST00000334056.5_Missense_Mutation_p.S311R	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)						mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GTTTACAGGAAGTGAAGAATG	0.323																																						ENST00000334056.5																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(931-933)Agt>Cgt		speedy/RINGO cell cycle regulator family member A							50.0	54.0	53.0					2																	29072796		2203	4298	6501	SO:0001624	3_prime_UTR_variant	245711				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding	g.chr2:29072796A>C	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.*269T>G	2.37:g.29072796A>C						SPDYA_ENST00000379579.4_Missense_Mutation_p.S311R|TRMT61B_ENST00000306108.5_3'UTR	p.S311R	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN			8	1120	+	Acute lymphoblastic leukemia(172;0.155)		311					Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	37	c.931A>C	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.045847	0.55110	.	.	ENSG00000163806	ENST00000379579;ENST00000334056	.	.	.	5.87	5.87	0.94306	.	0.406008	0.16932	U	0.193603	T	0.50973	0.1647	L	0.44542	1.39	0.80722	D	1	P	0.39216	0.664	B	0.33690	0.168	T	0.54397	-0.8300	9	0.51188	T	0.08	2.0304	16.5764	0.84681	1.0:0.0:0.0:0.0	.	311	Q5MJ70	SPDYA_HUMAN	R	311	.	ENSP00000335628:S311R	S	+	1	0	SPDYA	28926300	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.419000	0.59835	2.371000	0.80710	0.533000	0.62120	AGT		0.323	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		16	26	0	0	0	1	0	16	26				
WDR20	91833	broad.mit.edu	37	14	102675248	102675248	+	Missense_Mutation	SNP	C	C	G			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr14:102675248C>G	ENST00000342702.3	+	3	772	c.741C>G	c.(739-741)ttC>ttG	p.F247L	WDR20_ENST00000424963.2_Missense_Mutation_p.F123L|WDR20_ENST00000454394.2_Missense_Mutation_p.F278L|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556807.1_Missense_Mutation_p.F186L|WDR20_ENST00000556511.2_Missense_Mutation_p.F186L|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000545563.1_Missense_Mutation_p.F74L|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000335263.5_Missense_Mutation_p.F247L	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	247										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						TGCGGGTGTTCAACTTTGACT	0.567																																						ENST00000335263.5																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(739-741)ttC>ttG		WD repeat domain 20							79.0	70.0	73.0					14																	102675248		2203	4300	6503	SO:0001583	missense	91833							g.chr14:102675248C>G	BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.741C>G	14.37:g.102675248C>G	ENSP00000341037:p.Phe247Leu					WDR20_ENST00000342702.3_Missense_Mutation_p.F247L|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000545563.1_Missense_Mutation_p.F74L|WDR20_ENST00000556807.1_Missense_Mutation_p.F186L|WDR20_ENST00000556511.2_Missense_Mutation_p.F186L|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000454394.2_Missense_Mutation_p.F278L|WDR20_ENST00000424963.2_Missense_Mutation_p.F123L	p.F247L	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN			3	821	+			247					B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Missense_Mutation	SNP	ENST00000342702.3	37	c.741C>G	CCDS9969.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.15|13.15	2.152404|2.152404	0.38021|0.38021	.|.	.|.	ENSG00000140153|ENSG00000140153	ENST00000335263;ENST00000299135;ENST00000424963;ENST00000342702;ENST00000556807;ENST00000454394;ENST00000401892;ENST00000545563|ENST00000556511	T;T;T;T;T;T|.	0.61392|.	0.11;0.11;0.11;0.11;0.11;0.11|.	5.83|5.83	1.71|1.71	0.24356|0.24356	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.42245|0.42245	0.1194|0.1194	L|L	0.37630|0.37630	1.12|1.12	0.80722|0.80722	D|D	1|1	P;P;P;D;D;D;P|.	0.59357|.	0.484;0.673;0.891;0.964;0.957;0.985;0.828|.	B;B;P;P;P;D;P|.	0.72338|.	0.381;0.3;0.487;0.699;0.723;0.977;0.654|.	T|T	0.17440|0.17440	-1.0369|-1.0369	10|5	0.41790|.	T|.	0.15|.	.|.	4.2475|4.2475	0.10679|0.10679	0.1624:0.4878:0.0:0.3498|0.1624:0.4878:0.0:0.3498	.|.	278;259;186;247;186;123;247|.	E7EUY8;Q5JPH5;G3V2F8;Q8TBZ3-2;F8W9S4;B3KR43;Q8TBZ3|.	.;.;.;.;.;.;WDR20_HUMAN|.	L|E	247;186;123;247;186;278;177;74|178	ENSP00000335434:F247L;ENSP00000395793:F123L;ENSP00000341037:F247L;ENSP00000450636:F186L;ENSP00000406084:F278L;ENSP00000437927:F74L|.	ENSP00000299135:F186L|.	F|Q	+|+	3|1	2|0	WDR20|WDR20	101745001|101745001	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.505000|1.505000	0.35736|0.35736	0.783000|0.783000	0.33636|0.33636	0.655000|0.655000	0.94253|0.94253	TTC|CAA		0.567	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1	NM_181291		21	23	0	0	0	1	0	21	23				
RAB11B	9230	broad.mit.edu	37	19	8464766	8464766	+	Silent	SNP	A	A	G			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr19:8464766A>G	ENST00000328024.6	+	2	278	c.60A>G	c.(58-60)tcA>tcG	p.S20S	RAB11B_ENST00000601897.1_Intron|RAB11B_ENST00000594216.1_Silent_p.S20S	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	20					cellular response to acidic pH (GO:0071468)|constitutive secretory pathway (GO:0045054)|establishment of protein localization to membrane (GO:0090150)|GTP catabolic process (GO:0006184)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|melanosome transport (GO:0032402)|receptor recycling (GO:0001881)|regulated secretory pathway (GO:0045055)|regulation of anion transport (GO:0044070)|regulation of endocytic recycling (GO:2001135)|regulation of protein localization to cell surface (GO:2000008)|retrograde transport, endosome to plasma membrane (GO:1990126)|small GTPase mediated signal transduction (GO:0007264)|transferrin transport (GO:0033572)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)|synaptic vesicle (GO:0008021)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(1)|ovary(1)	4						TCGGGGACTCAGGCGTGGGCA	0.647																																						ENST00000328024.6																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(58-60)tcA>tcG		RAB11B, member RAS oncogene family							61.0	54.0	56.0					19																	8464766		2203	4300	6503	SO:0001819	synonymous_variant	9230				cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr19:8464766A>G	X79780	CCDS12201.1	19p13.2	2012-07-02			ENSG00000185236	ENSG00000185236		"""RAB, member RAS oncogene"""	9761	protein-coding gene	gene with protein product		604198				7811277	Standard	NM_004218		Approved	H-YPT3	uc002mju.4	Q15907		ENST00000328024.6:c.60A>G	19.37:g.8464766A>G						RAB11B_ENST00000601897.1_Intron|RAB11B_ENST00000594216.1_Silent_p.S20S	p.S20S	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN			2	278	+			20					A5YM50|B2R7I4|B4DMK0|D6W671|Q2YDT2|Q5U0I1|Q6FHR0|Q6FI42|Q8NI07	Silent	SNP	ENST00000328024.6	37	c.60A>G	CCDS12201.1																																																																																				0.647	RAB11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460343.2	NM_004218		3	21	0	0	0	1	0	3	21				
ADO	84890	broad.mit.edu	37	10	64565028	64565028	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr10:64565028C>T	ENST00000373783.1	+	1	513	c.209C>T	c.(208-210)cCg>cTg	p.P70L	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	70						mitochondrion (GO:0005739)	cysteamine dioxygenase activity (GO:0047800)|metal ion binding (GO:0046872)			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					AACATCGCCCCGCGCAAGGCC	0.672																																						ENST00000373783.1																			0				lung(2)	2						c.(208-210)cCg>cTg		2-aminoethanethiol (cysteamine) dioxygenase							19.0	17.0	17.0					10																	64565028		2178	4261	6439	SO:0001583	missense	84890						cysteamine dioxygenase activity|metal ion binding	g.chr10:64565028C>T	BC028589	CCDS7266.2	10q21.3	2007-08-28	2007-08-28	2007-08-28	ENSG00000181915	ENSG00000181915	1.13.11.19		23506	protein-coding gene	gene with protein product	"""cysteamine dioxygenase"""	611392	"""chromosome 10 open reading frame 22"""	C10orf22		17581819	Standard	NM_032804		Approved	FLJ14547	uc001jmg.3	Q96SZ5	OTTHUMG00000018306	ENST00000373783.1:c.209C>T	10.37:g.64565028C>T	ENSP00000362888:p.Pro70Leu					RP11-436D10.3_ENST00000425290.1_RNA	p.P70L	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN			1	513	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		70					B1AL29	Missense_Mutation	SNP	ENST00000373783.1	37	c.209C>T	CCDS7266.2	.	.	.	.	.	.	.	.	.	.	c	22.7	4.325295	0.81580	.	.	ENSG00000181915	ENST00000373783	T	0.48201	0.82	4.99	3.12	0.35913	Cupin, RmlC-type (1);	0.311519	0.29876	U	0.010964	T	0.51346	0.1669	M	0.81112	2.525	0.58432	D	0.999999	D	0.60575	0.988	P	0.47206	0.541	T	0.50701	-0.8797	10	0.37606	T	0.19	.	8.0649	0.30654	0.0:0.7527:0.1602:0.0871	.	70	Q96SZ5	AEDO_HUMAN	L	70	ENSP00000362888:P70L	ENSP00000362888:P70L	P	+	2	0	ADO	64235034	0.990000	0.36364	0.989000	0.46669	0.985000	0.73830	2.893000	0.48633	0.605000	0.29947	0.651000	0.88453	CCG		0.672	ADO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048243.2	NM_032804		3	20	0	0	0	1	0	3	20				
SIRPA	140885	broad.mit.edu	37	20	1902301	1902301	+	Missense_Mutation	SNP	G	G	A	rs199733185		TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr20:1902301G>A	ENST00000358771.4	+	3	849	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I|SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	233	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V233I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGTGGCCCACGTCACCTTGCA	0.617																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			1	Substitution - Missense(1)	p.V233I(1)	lung(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(697-699)Gtc>Atc		signal-regulatory protein alpha							67.0	60.0	62.0					20																	1902301		2203	4296	6499	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902301G>A	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.697G>A	20.37:g.1902301G>A	ENSP00000351621:p.Val233Ile					SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I|SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I	p.V233I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	849	+			233			Ig-like C1-type 1.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.697G>A	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382458	0.24944	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02863	4.13;4.13;4.13	4.86	-7.7	0.01259	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	2.216010	0.01765	N	0.030825	T	0.02727	0.0082	L	0.27053	0.805	0.09310	N	1	B;B;B	0.14805	0.002;0.011;0.008	B;B;B	0.12156	0.002;0.007;0.006	T	0.30765	-0.9967	10	0.20519	T	0.43	.	13.8982	0.63785	0.7446:0.0:0.2554:0.0	.	213;233;233	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	I	233	ENSP00000382941:V233I;ENSP00000348307:V233I;ENSP00000351621:V233I	ENSP00000348307:V233I	V	+	1	0	SIRPA	1850301	0.000000	0.05858	0.000000	0.03702	0.766000	0.43426	-2.041000	0.01415	-1.573000	0.01659	-0.355000	0.07637	GTC		0.617	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		3	53	0	0	0	1	0	3	53				
DHX37	57647	broad.mit.edu	37	12	125450247	125450247	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr12:125450247C>T	ENST00000308736.2	-	13	1800	c.1702G>A	c.(1702-1704)Gat>Aat	p.D568N	DHX37_ENST00000544745.1_Missense_Mutation_p.D355N	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	568	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGGTCCAGATCGAGGTCGGAG	0.597																																						ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(1702-1704)Gat>Aat		DEAH (Asp-Glu-Ala-His) box polypeptide 37							140.0	106.0	117.0					12																	125450247		2203	4300	6503	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125450247C>T	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.1702G>A	12.37:g.125450247C>T	ENSP00000311135:p.Asp568Asn					DHX37_ENST00000544745.1_Missense_Mutation_p.D355N	p.D568N	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	13	1800	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		568			Helicase C-terminal.		Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.1702G>A	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377516	0.61735	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03441	3.99;3.93	5.26	5.26	0.73747	Helicase, C-terminal (2);	0.093264	0.64402	D	0.000001	T	0.10594	0.0259	M	0.70275	2.135	0.80722	D	1	D	0.63046	0.992	P	0.47528	0.549	T	0.01202	-1.1420	10	0.66056	D	0.02	-12.7706	18.4861	0.90830	0.0:1.0:0.0:0.0	.	568	Q8IY37	DHX37_HUMAN	N	568;355	ENSP00000311135:D568N;ENSP00000439009:D355N	ENSP00000311135:D568N	D	-	1	0	DHX37	124016200	1.000000	0.71417	0.827000	0.32855	0.292000	0.27327	6.416000	0.73332	2.465000	0.83290	0.655000	0.94253	GAT		0.597	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		10	13	0	0	0	1	0	10	13				
LOC101927533	101927533	broad.mit.edu	37	2	65738863	65738863	+	lincRNA	DEL	G	G	-	rs373784983|rs377731020		TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr2:65738863delG	ENST00000377977.3	+	0	862																											TTTTTTTTTTGTCCAGGAGGC	0.303																																						ENST00000377977.3																			0																																																			101927533							g.chr2:65738863delG																													2.37:g.65738863delG														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.303	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			3	6						3	6	---	---	---	---
LOC440173	440173	broad.mit.edu	37	9	89628124	89628125	+	lincRNA	INS	-	-	A	rs35998235		TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr9:89628124_89628125insA	ENST00000602579.1	-	0	256					NR_027471.1																						TGTCTCCCTTCAAAAAAAAAAA	0.366																																						ENST00000602579.1																			0																																																			440173							g.chr9:89628124_89628125insA																													9.37:g.89628135_89628135dupA								NR_027471.1						0	256	-									RNA	INS	ENST00000602579.1	37																																																																																						0.366	RP11-276H19.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000052931.2			4	3						4	3	---	---	---	---
UBR7	55148	broad.mit.edu	37	14	93673726	93673726	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr14:93673726delG	ENST00000013070.6	+	1	326	c.90delG	c.(88-90)ctgfs	p.L30fs	UBR7_ENST00000416753.1_5'UTR|C14orf142_ENST00000306954.4_5'Flank|RP11-371E8.4_ENST00000557048.1_Intron|RP11-371E8.4_ENST00000557574.1_Intron	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	30							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						ACGAGGAGCTGGAGAATGAGG	0.706											OREG0022885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000013070.6																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						c.(88-90)ctfs		ubiquitin protein ligase E3 component n-recognin 7 (putative)							46.0	35.0	39.0					14																	93673726		2186	4275	6461	SO:0001589	frameshift_variant	55148						ubiquitin-protein ligase activity|zinc ion binding	g.chr14:93673726delG	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.90delG	14.37:g.93673726delG	ENSP00000013070:p.Leu30fs		OREG0022885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1299	RP11-371E8.4_ENST00000557574.1_Intron|UBR7_ENST00000416753.1_5'UTR|RP11-371E8.4_ENST00000557048.1_Intron	p.L30fs	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN			1	326	+			30					Q86U21|Q86UA9|Q96BY0|Q9NVV6	Frame_Shift_Del	DEL	ENST00000013070.6	37	c.90delG	CCDS9909.1																																																																																				0.706	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748		2	4						2	4	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25470450	25470452	+	RNA	DEL	GGA	GGA	-			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr15:25470450_25470452delGGA	ENST00000453082.2	+	0	1061				SNORD115-28_ENST00000363931.1_RNA|SNORD115-29_ENST00000362834.1_RNA|SNORD115-31_ENST00000365318.1_RNA|SNORD115-30_ENST00000364117.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGAGAATTTTGGAGGAGGACACT	0.493																																						ENST00000453082.2																			0																																																			104472715							g.chr15:25470450_25470452delGGA			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25470456_25470458delGGA								NR_003343.1						0	1061	+									RNA	DEL	ENST00000453082.2	37																																																																																						0.493	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			22	191						22	191	---	---	---	---
FBXL22	283807	broad.mit.edu	37	15	63889523	63889523	+	5'Flank	DEL	C	C	-			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr15:63889523delC	ENST00000360587.2	+	0	0				USP3-AS1_ENST00000558831.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000561191.1_RNA|FBXL22_ENST00000534939.1_5'Flank|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000560622.1_RNA|USP3-AS1_ENST00000561256.1_RNA|FBXL22_ENST00000539570.3_5'Flank	NM_203373.2	NP_976307.2	Q6P050	FXL22_HUMAN	F-box and leucine-rich repeat protein 22						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(4)	4						CCATATATGTCCACCGGCCCA	0.572																																						ENST00000560962.1																			0																																																	SO:0001631	upstream_gene_variant	100130855							g.chr15:63889523delC	BC065833	CCDS10187.1, CCDS10187.2	15q22.1	2012-04-05			ENSG00000197361	ENSG00000197361		"""F-boxes / Leucine-rich repeats"""	27537	protein-coding gene	gene with protein product		609088				12477932	Standard	NM_203373		Approved	Fbl22, FLJ39626	uc002amn.4	Q6P050	OTTHUMG00000132905		15.37:g.63889523delC	Exception_encountered					USP3-AS1_ENST00000561191.1_RNA|USP3-AS1_ENST00000560622.1_RNA|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000558831.1_RNA								0	548	-									RNA	DEL	ENST00000360587.2	37		CCDS10187.2																																																																																				0.572	FBXL22-001	KNOWN	downstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256412.4	NM_203373		2	4						2	4	---	---	---	---
TNFSF12	8742	broad.mit.edu	37	17	7452625	7452626	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr17:7452625_7452626delCC	ENST00000293825.6	+	1	418_419	c.155_156delCC	c.(154-156)gccfs	p.A52fs	TNFSF12-TNFSF13_ENST00000293826.4_Frame_Shift_Del_p.A52fs|TNFSF12_ENST00000557233.1_Frame_Shift_Del_p.A52fs	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12	52					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				TCGCTGTCCGCCCAGGTGAGGC	0.733																																						ENST00000293826.4																			0				central_nervous_system(1)|large_intestine(2)	3						c.(154-156)gfs																																						SO:0001589	frameshift_variant	407977				immune response	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr17:7452625_7452626delCC	AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"""Tumor necrosis factor (ligand) superfamily"""	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.155_156delCC	17.37:g.7452625_7452626delCC	ENSP00000293825:p.Ala52fs					TNFSF12_ENST00000557233.1_Frame_Shift_Del_p.A52fs|TNFSF12_ENST00000293825.6_Frame_Shift_Del_p.A52fs	p.A52fs	NM_172089.3	NP_742086.1	Q8IZK7	Q8IZK7_HUMAN			1	210_211	+		Prostate(122;0.157)	52					Q8IZK7|Q8WUZ7	Frame_Shift_Del	DEL	ENST00000293825.6	37	c.155_156delCC	CCDS11109.1																																																																																				0.733	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226951.2	NM_003809		2	4						2	4	---	---	---	---
