#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
MYOF	26509	broad.mit.edu	37	10	95111448	95111448	+	Missense_Mutation	SNP	T	T	A			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr10:95111448T>A	ENST00000359263.4	-	33	3636	c.3637A>T	c.(3637-3639)Atg>Ttg	p.M1213L	MYOF_ENST00000371501.4_Missense_Mutation_p.M1213L|MYOF_ENST00000371502.4_Missense_Mutation_p.M1213L|MYOF_ENST00000358334.5_Missense_Mutation_p.M1200L	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1213	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAAAGTTCCATGATAACTTTG	0.403																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3637-3639)Atg>Ttg		myoferlin							119.0	116.0	117.0					10																	95111448		1812	4082	5894	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95111448T>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3637A>T	10.37:g.95111448T>A	ENSP00000352208:p.Met1213Leu		Somatic				MYOF_ENST00000359263.4_Missense_Mutation_p.M1213L|MYOF_ENST00000358334.5_Missense_Mutation_p.M1200L|MYOF_ENST00000371502.4_Missense_Mutation_p.M1213L	p.M1213L			WXS	Illumina GAIIx	Phase_I	Q9NZM1	MYOF_HUMAN			33	3759	-			1213			C2 4.		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.3637A>T	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	T	0.882	-0.728473	0.03135	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.77	3.44	0.39384	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.384015	0.30602	N	0.009262	T	0.22589	0.0545	N	0.00873	-1.125	0.19575	N	0.999969	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21999	-1.0229	10	0.13853	T	0.58	-3.3848	9.1397	0.36897	0.0:0.2068:0.0:0.7932	.	1200;1213	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	L	1200;1213;1213;1213	ENSP00000351094:M1200L;ENSP00000352208:M1213L;ENSP00000360556:M1213L;ENSP00000360557:M1213L	ENSP00000351094:M1200L	M	-	1	0	MYOF	95101438	0.999000	0.42202	0.039000	0.18376	0.239000	0.25481	0.708000	0.25719	0.458000	0.26988	-0.297000	0.09499	ATG		0.403	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		25	39	0	0	0	1	0	25	39				
OR10G4	390264	broad.mit.edu	37	11	123886874	123886874	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr11:123886874T>C	ENST00000320891.4	+	1	593	c.593T>C	c.(592-594)aTc>aCc	p.I198T		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGATGGTCATCTTTGTGGAC	0.547																																						ENST00000320891.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48						c.(592-594)aTc>aCc		olfactory receptor, family 10, subfamily G, member 4							268.0	217.0	234.0					11																	123886874		2201	4299	6500	SO:0001583	missense	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886874T>C	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.593T>C	11.37:g.123886874T>C	ENSP00000325076:p.Ile198Thr		Somatic					p.I198T	NM_001004462.1	NP_001004462.1	WXS	Illumina GAIIx	Phase_I	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	593	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	198					Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	c.593T>C	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	t	6.532	0.466481	0.12402	.	.	ENSG00000254737	ENST00000320891	T	0.00145	8.67	3.33	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.141128	0.32444	N	0.006091	T	0.00178	0.0005	N	0.20445	0.575	0.29292	N	0.869291	D	0.59767	0.986	D	0.63113	0.911	T	0.62421	-0.6858	10	0.33940	T	0.23	.	8.0035	0.30310	0.0:0.1052:0.0:0.8948	.	198	Q8NGN3	O10G4_HUMAN	T	198	ENSP00000325076:I198T	ENSP00000325076:I198T	I	+	2	0	OR10G4	123392084	0.000000	0.05858	0.936000	0.37596	0.063000	0.16089	0.075000	0.14686	1.529000	0.49120	0.473000	0.43528	ATC		0.547	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		46	44	0	0	0	1	0	46	44				
CSMD1	64478	broad.mit.edu	37	8	3263679	3263679	+	Silent	SNP	C	C	T			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr8:3263679C>T	ENST00000520002.1	-	16	2694	c.2139G>A	c.(2137-2139)agG>agA	p.R713R	CSMD1_ENST00000602723.1_Silent_p.R713R|CSMD1_ENST00000537824.1_Silent_p.R712R|CSMD1_ENST00000539096.1_Silent_p.R712R|CSMD1_ENST00000542608.1_Silent_p.R712R|CSMD1_ENST00000400186.3_Silent_p.R713R|CSMD1_ENST00000602557.1_Silent_p.R713R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	713	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGAGTAGAAACCTGTCACCAA	0.453																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(2137-2139)agG>agA		CUB and Sushi multiple domains 1							48.0	49.0	49.0					8																	3263679		1886	4120	6006	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3263679C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2139G>A	8.37:g.3263679C>T			Somatic				CSMD1_ENST00000520002.1_Silent_p.R713R|CSMD1_ENST00000537824.1_Silent_p.R712R|CSMD1_ENST00000602723.1_Silent_p.R713R|CSMD1_ENST00000400186.3_Silent_p.R713R|CSMD1_ENST00000539096.1_Silent_p.R712R|CSMD1_ENST00000542608.1_Silent_p.R712R	p.R713R			WXS	Illumina GAIIx	Phase_I	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	16	2694	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	713			Sushi 4.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.2139G>A		.	.	.	.	.	.	.	.	.	.	C	0.402	-0.917671	0.02396	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.46	2.26	0.28386	.	.	.	.	.	T	0.55146	0.1902	.	.	.	0.41946	D	0.990636	.	.	.	.	.	.	T	0.49133	-0.8971	4	.	.	.	.	7.148	0.25593	0.1187:0.6047:0.0:0.2767	.	.	.	.	I	193	.	.	V	-	1	0	CSMD1	3251086	0.217000	0.23597	0.883000	0.34634	0.018000	0.09664	-0.404000	0.07205	0.675000	0.31264	-0.126000	0.14955	GTT		0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	0	0	0	0	1	0	5	0				
SYNGAP1	8831	broad.mit.edu	37	6	33403335	33403335	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr6:33403335C>T	ENST00000418600.2	+	7	808	c.707C>T	c.(706-708)gCg>gTg	p.A236V	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.A177V|SYNGAP1_ENST00000496374.1_3'UTR|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.A236V	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	236	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TGTCGGTCTGCGGCCGAAAGA	0.507																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(706-708)gCg>gTg		synaptic Ras GTPase activating protein 1							178.0	163.0	168.0					6																	33403335		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33403335C>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.707C>T	6.37:g.33403335C>T	ENSP00000403636:p.Ala236Val		Somatic				SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.A177V|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.A236V	p.A236V	NM_006772.2	NP_006763.2	WXS	Illumina GAIIx	Phase_I	Q96PV0	SYGP1_HUMAN			7	808	+			236			PH.		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.707C>T	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	33	5.223162	0.95139	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	D;D;D	0.93366	-3.21;-3.21;-3.21	4.62	4.62	0.57501	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.94489	0.8226	M	0.80746	2.51	0.80722	D	1	D;D;D	0.61080	0.981;0.989;0.979	B;P;P	0.53689	0.446;0.648;0.732	D	0.95111	0.8238	10	0.87932	D	0	.	15.0065	0.71516	0.0:1.0:0.0:0.0	.	236;236;236	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	V	236;236;236;177	ENSP00000293748:A236V;ENSP00000403636:A236V;ENSP00000412475:A177V	ENSP00000293748:A236V	A	+	2	0	SYNGAP1	33511313	1.000000	0.71417	0.958000	0.39756	0.962000	0.63368	7.651000	0.83577	2.391000	0.81399	0.591000	0.81541	GCG		0.507	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		4	124	0	0	0	1	0	4	124				
ANKK1	255239	broad.mit.edu	37	11	113270063	113270063	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr11:113270063G>T	ENST00000303941.3	+	8	1466	c.1372G>T	c.(1372-1374)Gaa>Taa	p.E458*		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	458							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GGATGCCCAGGAACGTGAAGG	0.617																																						ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(1372-1374)Gaa>Taa		ankyrin repeat and kinase domain containing 1							19.0	22.0	21.0					11																	113270063		2100	4217	6317	SO:0001587	stop_gained	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113270063G>T	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.1372G>T	11.37:g.113270063G>T	ENSP00000306678:p.Glu458*		Somatic					p.E458*	NM_178510.1	NP_848605.1	WXS	Illumina GAIIx	Phase_I	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	8	1466	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	458						Nonsense_Mutation	SNP	ENST00000303941.3	37	c.1372G>T	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978195	0.74360	.	.	ENSG00000170209	ENST00000303941	.	.	.	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-31.0765	17.083	0.86603	0.0:0.0:1.0:0.0	.	.	.	.	X	458	.	ENSP00000306678:E458X	E	+	1	0	ANKK1	112775273	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	7.465000	0.80898	2.498000	0.84270	0.557000	0.71058	GAA		0.617	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		4	5	1	0	0.014758	1	0.0161635	4	5				
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		82	Substitution - Missense(82)	p.Q209L(80)|p.Q209P(2)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		Somatic				AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	WXS	Illumina GAIIx	Phase_I	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	GNA11	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		20	21	0	0	0	1	0	20	21				
GRIN2B	2904	broad.mit.edu	37	12	13717090	13717090	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr12:13717090G>A	ENST00000609686.1	-	13	3291	c.3082C>T	c.(3082-3084)Ccc>Tcc	p.P1028S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1028					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTGGAGGAGGGGAGGCCGATG	0.597																																						ENST00000609686.1																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3082-3084)Ccc>Tcc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						90.0	70.0	77.0					12																	13717090		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717090G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3082C>T	12.37:g.13717090G>A	ENSP00000477455:p.Pro1028Ser		Somatic					p.P1028S	NM_000834.3	NP_000825.2	WXS	Illumina GAIIx	Phase_I	Q13224	NMDE2_HUMAN			13	3291	-								Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3082C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169345	0.57584	.	.	ENSG00000150086	ENST00000279593	T	0.11930	2.73	5.57	4.68	0.58851	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.250220	0.41097	D	0.000952	T	0.09992	0.0245	N	0.25647	0.755	0.53688	D	0.999974	B	0.33448	0.412	B	0.26310	0.068	T	0.11084	-1.0602	10	0.52906	T	0.07	.	12.9157	0.58205	0.0755:0.0:0.9245:0.0	.	1028	Q13224	NMDE2_HUMAN	S	1028	ENSP00000279593:P1028S	ENSP00000279593:P1028S	P	-	1	0	GRIN2B	13608357	1.000000	0.71417	0.860000	0.33809	0.986000	0.74619	4.750000	0.62162	1.363000	0.46019	0.650000	0.86243	CCC		0.597	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			14	20	0	0	0	1	0	14	20				
NOP9	161424	broad.mit.edu	37	14	24769766	24769766	+	Missense_Mutation	SNP	C	C	T	rs148747544		TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr14:24769766C>T	ENST00000267425.3	+	2	493	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	DHRS1_ENST00000396813.1_5'Flank|DHRS1_ENST00000288111.7_5'Flank|NOP9_ENST00000396802.3_Missense_Mutation_p.R134C	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	134							poly(A) RNA binding (GO:0044822)										CTCTAACTTGCGCACTGTGGC	0.572																																						ENST00000267425.3																			0											c.(400-402)Cgc>Tgc		NOP9 nucleolar protein		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	212.0	185.0	194.0		400	5.0	0.1	14	dbSNP_134	194	0,8600		0,0,4300	no	missense	C14orf21	NM_174913.1	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	134/637	24769766	1,13005	2203	4300	6503	SO:0001583	missense	161424							g.chr14:24769766C>T		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.400C>T	14.37:g.24769766C>T	ENSP00000267425:p.Arg134Cys		Somatic				NOP9_ENST00000396802.3_Missense_Mutation_p.R134C	p.R134C	NM_174913.1	NP_777573.1	WXS	Illumina GAIIx	Phase_I					2	493	+								A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	ENST00000267425.3	37	c.400C>T	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600058	0.66332	2.27E-4	0.0	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.14144	2.53;2.53	4.96	4.96	0.65561	Armadillo-like helical (1);Armadillo-type fold (1);	0.301944	0.31963	N	0.006784	T	0.31009	0.0783	M	0.68593	2.085	0.21822	N	0.999527	D	0.76494	0.999	P	0.57960	0.83	T	0.06481	-1.0824	10	0.38643	T	0.18	-12.0003	17.1191	0.86697	0.0:1.0:0.0:0.0	.	134	Q86U38	CN021_HUMAN	C	134	ENSP00000267425:R134C;ENSP00000380020:R134C	ENSP00000267425:R134C	R	+	1	0	C14orf21	23839606	0.790000	0.28787	0.106000	0.21319	0.538000	0.34931	4.099000	0.57755	2.558000	0.86282	0.655000	0.94253	CGC		0.572	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			4	238	0	0	0	1	0	4	238				
TRIM4	89122	broad.mit.edu	37	7	99489863	99489863	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr7:99489863C>T	ENST00000355947.2	-	7	1555	c.1426G>A	c.(1426-1428)Gtc>Atc	p.V476I	TRIM4_ENST00000349062.2_Missense_Mutation_p.V450I	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	476	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				AGGCGTGAGACAGAAGAACAA	0.502																																						ENST00000355947.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17						c.(1426-1428)Gtc>Atc		tripartite motif containing 4							111.0	105.0	107.0					7																	99489863		2203	4300	6503	SO:0001583	missense	89122				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	g.chr7:99489863C>T	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.1426G>A	7.37:g.99489863C>T	ENSP00000348216:p.Val476Ile		Somatic				TRIM4_ENST00000349062.2_Missense_Mutation_p.V450I	p.V476I	NM_033017.3	NP_148977.2	WXS	Illumina GAIIx	Phase_I	Q9C037	TRIM4_HUMAN			7	1555	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	476			B30.2/SPRY.		A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	ENST00000355947.2	37	c.1426G>A	CCDS5679.1	.	.	.	.	.	.	.	.	.	.	C	5.143	0.211907	0.09757	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000542799	T;T	0.60672	0.17;0.17	2.64	-1.47	0.08772	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.28863	0.0716	N	0.04203	-0.255	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.003;0.005	T	0.13361	-1.0512	9	0.41790	T	0.15	.	4.0111	0.09623	0.0:0.3024:0.1947:0.5028	.	450;476	Q9C037-2;Q9C037	.;TRIM4_HUMAN	I	476;450;306	ENSP00000348216:V476I;ENSP00000275736:V450I	ENSP00000275736:V450I	V	-	1	0	TRIM4	99327799	0.000000	0.05858	0.000000	0.03702	0.398000	0.30690	-0.272000	0.08560	-0.378000	0.07918	-0.136000	0.14681	GTC		0.502	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		18	38	0	0	0	1	0	18	38				
UPK1A	11045	broad.mit.edu	37	19	36164371	36164371	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr19:36164371A>T	ENST00000222275.2	+	4	392	c.392A>T	c.(391-393)cAg>cTg	p.Q131L	UPK1A_ENST00000379013.2_Missense_Mutation_p.Q131L|UPK1A-AS1_ENST00000443196.1_RNA	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	131					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATCACCAAGCAGATGCTGACC	0.662																																						ENST00000222275.2																			0				breast(1)|large_intestine(4)|lung(2)|stomach(2)	9						c.(391-393)cAg>cTg		uroplakin 1A							51.0	48.0	49.0					19																	36164371		2203	4300	6503	SO:0001583	missense	11045				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity	g.chr19:36164371A>T	AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"""Tetraspanins"""	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.392A>T	19.37:g.36164371A>T	ENSP00000222275:p.Gln131Leu		Somatic				UPK1A_ENST00000379013.2_Missense_Mutation_p.Q131L	p.Q131L	NM_007000.2	NP_008931.1	WXS	Illumina GAIIx	Phase_I	O00322	UPK1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	392	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		131					Q3KNU5|Q3KNU6	Missense_Mutation	SNP	ENST00000222275.2	37	c.392A>T	CCDS12470.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.828828	0.90955	.	.	ENSG00000105668	ENST00000222275;ENST00000379013	D;D	0.86865	-2.18;-2.18	5.54	5.54	0.83059	Tetraspanin, EC2 domain (1);	0.000000	0.64402	D	0.000001	D	0.90466	0.7014	M	0.65498	2.005	0.51012	D	0.999909	D;P	0.60575	0.988;0.951	P;P	0.56216	0.794;0.708	D	0.91301	0.5067	10	0.66056	D	0.02	0.466	13.6153	0.62103	1.0:0.0:0.0:0.0	.	131;131	O00322-2;O00322	.;UPK1A_HUMAN	L	131	ENSP00000222275:Q131L;ENSP00000368298:Q131L	ENSP00000222275:Q131L	Q	+	2	0	UPK1A	40856211	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.345000	0.72995	2.103000	0.63969	0.533000	0.62120	CAG		0.662	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3			14	27	0	0	0	1	0	14	27				
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr1:155887393T>G	ENST00000368321.3	-	11	1360	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q446P|SNORA42_ENST00000384744.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1336-1338)cAg>cCg		KIAA0907							14.0	18.0	16.0					1																	155887393		2157	4273	6430	SO:0001583	missense	22889							g.chr1:155887393T>G	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1337A>C	1.37:g.155887393T>G	ENSP00000357304:p.Gln446Pro		Somatic				KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P	p.Q446P			WXS	Illumina GAIIx	Phase_I	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1362	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		446			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1337A>C	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.413076	0.25465	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.32753	1.44;1.44	5.76	0.471	0.16752	.	0.977681	0.08344	N	0.960281	T	0.04003	0.0112	N	0.03608	-0.345	0.29419	N	0.860713	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43442	-0.9391	10	0.22706	T	0.39	.	8.2981	0.31997	0.1873:0.0:0.4136:0.3991	.	446;446	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	P	446	ENSP00000357304:Q446P;ENSP00000357303:Q446P	ENSP00000357303:Q446P	Q	-	2	0	KIAA0907	154154017	0.988000	0.35896	0.899000	0.35326	0.963000	0.63663	-0.615000	0.05597	-0.064000	0.13043	0.533000	0.62120	CAG		0.567	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		4	16	0	0	0	1	0	4	16				
IGHE	3497	broad.mit.edu	37	14	106067994	106067994	+	lincRNA	SNP	G	G	A			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr14:106067994G>A	ENST00000390540.2	-	0	391				AL928742.12_ENST00000412518.1_lincRNA|IGHE_ENST00000576077.1_RNA|IGHE_ENST00000577108.1_RNA																							CCAGAGTCACGGAGGTGGCAT	0.607																																						ENST00000390540.2																			0																				98.0	112.0	108.0					14																	106067994		2131	4232	6363			0							g.chr14:106067994G>A																													14.37:g.106067994G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	391	-									RNA	SNP	ENST00000390540.2	37																																																																																						0.607	RP11-731F5.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000380286.1			11	11	0	0	0	1	0	11	11				
MUC16	94025	broad.mit.edu	37	19	9018559	9018559	+	Missense_Mutation	SNP	C	C	A	rs569488503		TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr19:9018559C>A	ENST00000397910.4	-	24	37818	c.37615G>T	c.(37615-37617)Gct>Tct	p.A12539S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12541	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						AGAGGGCCAGCAGCTGTAGTG	0.428																																						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.(37615-37617)Gct>Tct		mucin 16, cell surface associated							195.0	167.0	176.0					19																	9018559		1923	4138	6061	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9018559C>A	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.37615G>T	19.37:g.9018559C>A	ENSP00000381008:p.Ala12539Ser		Somatic					p.A12539S	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			24	37818	-			12541			SEA 4.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.37615G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	7.353	0.623202	0.14193	.	.	ENSG00000181143	ENST00000397910	T	0.33438	1.41	2.01	-0.421	0.12332	.	.	.	.	.	T	0.19765	0.0475	L	0.50333	1.59	.	.	.	P	0.35481	0.504	B	0.24394	0.053	T	0.20306	-1.0279	8	0.87932	D	0	.	3.0904	0.06291	0.0:0.4941:0.3105:0.1954	.	12539	B5ME49	.	S	12539	ENSP00000381008:A12539S	ENSP00000381008:A12539S	A	-	1	0	MUC16	8879559	0.000000	0.05858	0.000000	0.03702	0.273000	0.26683	-4.880000	0.00174	-0.025000	0.13918	0.195000	0.17529	GCT		0.428	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	86	1	0	0.014758	1	0.0161635	4	86				
SGSM1	129049	broad.mit.edu	37	22	25246302	25246302	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr22:25246302A>T	ENST00000400359.4	+	5	365	c.358A>T	c.(358-360)Aac>Tac	p.N120Y	SGSM1_ENST00000400358.4_Missense_Mutation_p.N120Y	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	120	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GAAGCTGCCCAACTTGTCCCC	0.483											OREG0026418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(358-360)Aac>Tac		small G protein signaling modulator 1							70.0	70.0	70.0					22																	25246302		1975	4157	6132	SO:0001583	missense	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25246302A>T	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.358A>T	22.37:g.25246302A>T	ENSP00000383212:p.Asn120Tyr		Somatic	OREG0026418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	777	SGSM1_ENST00000400359.4_Missense_Mutation_p.N120Y	p.N120Y	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	WXS	Illumina GAIIx	Phase_I	Q2NKQ1	SGSM1_HUMAN			5	415	+			120			RUN.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.358A>T	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.238923	0.58995	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.07800	3.16;3.16	4.83	4.83	0.62350	RUN (2);	0.364205	0.37053	N	0.002268	T	0.17831	0.0428	M	0.63428	1.95	0.48762	D	0.999703	B;B;P;P;D	0.54047	0.226;0.268;0.955;0.484;0.964	B;P;P;P;P	0.54590	0.202;0.459;0.642;0.452;0.756	T	0.06356	-1.0831	10	0.17832	T	0.49	0.9439	13.905	0.63828	1.0:0.0:0.0:0.0	.	120;95;95;120;95	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	Y	95;120;120	ENSP00000383211:N120Y;ENSP00000383212:N120Y	ENSP00000383211:N120Y	N	+	1	0	SGSM1	23576302	1.000000	0.71417	0.995000	0.50966	0.245000	0.25701	7.253000	0.78320	1.949000	0.56562	0.477000	0.44152	AAC		0.483	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		6	8	0	0	0	1	0	6	8				
WDR75	84128	broad.mit.edu	37	2	190331249	190331249	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr2:190331249C>A	ENST00000314761.4	+	13	1448	c.1388C>A	c.(1387-1389)aCa>aAa	p.T463K		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	463						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			ACCTTGGTTACAGCTAGCAAA	0.338																																						ENST00000314761.4																			0				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25						c.(1387-1389)aCa>aAa		WD repeat domain 75							108.0	110.0	110.0					2																	190331249		2203	4299	6502	SO:0001583	missense	84128					nucleolus		g.chr2:190331249C>A	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.1388C>A	2.37:g.190331249C>A	ENSP00000314193:p.Thr463Lys		Somatic					p.T463K	NM_032168.1	NP_115544.1	WXS	Illumina GAIIx	Phase_I	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		13	1448	+			463					Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	c.1388C>A	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793383	0.90453	.	.	ENSG00000115368	ENST00000314761	T	0.68181	-0.31	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);	0.047591	0.85682	D	0.000000	T	0.82181	0.4981	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75484	0.986;0.986	D	0.83768	0.0218	10	0.87932	D	0	-19.1179	18.7417	0.91775	0.0:1.0:0.0:0.0	.	463;463	A8K330;Q8IWA0	.;WDR75_HUMAN	K	463	ENSP00000314193:T463K	ENSP00000314193:T463K	T	+	2	0	WDR75	190039494	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	6.531000	0.73820	2.752000	0.94435	0.655000	0.94253	ACA		0.338	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		3	45	1	0	1	1	1	3	45				
PDP1	54704	broad.mit.edu	37	8	94935040	94935040	+	Silent	SNP	G	G	A	rs138553326		TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr8:94935040G>A	ENST00000297598.4	+	2	1022	c.753G>A	c.(751-753)gcG>gcA	p.A251A	PDP1_ENST00000396200.3_Silent_p.A276A|PDP1_ENST00000520728.1_Silent_p.A251A|PDP1_ENST00000517764.1_Silent_p.A251A	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	251					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						CCTTGGAGGCGCAAGTTGGTG	0.463																																						ENST00000396200.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(826-828)gcG>gcA		pyruvate dehyrogenase phosphatase catalytic subunit 1		G	,,,,	0,4406		0,0,2203	124.0	125.0	124.0		930,828,828,753,753	-2.5	1.0	8	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDP1	NM_001161778.1,NM_001161779.1,NM_001161780.1,NM_001161781.1,NM_018444.3	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	310/597,276/563,276/563,251/538,251/538	94935040	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54704				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94935040G>A	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.753G>A	8.37:g.94935040G>A			Somatic				PDP1_ENST00000297598.4_Silent_p.A251A|PDP1_ENST00000520728.1_Silent_p.A251A|PDP1_ENST00000517764.1_Silent_p.A251A	p.A276A	NM_001161779.1	NP_001155251.1	WXS	Illumina GAIIx	Phase_I	Q9P0J1	PDP1_HUMAN			3	1104	+			251					B3KX71|J3KPU0|Q5U5K1	Silent	SNP	ENST00000297598.4	37	c.828G>A	CCDS6259.1																																																																																				0.463	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		4	235	0	0	0	1	0	4	235				
PAX7	5081	broad.mit.edu	37	1	19029758	19029758	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr1:19029758A>C	ENST00000375375.3	+	7	1721	c.1123A>C	c.(1123-1125)Atg>Ctg	p.M375L	PAX7_ENST00000420770.2_Missense_Mutation_p.M375L|PAX7_ENST00000400661.3_Missense_Mutation_p.M373L	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	375					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CTCCAACCACATGAACCCGGT	0.632			T	FOXO1A	alveolar rhabdomyosarcoma																																	ENST00000420770.2				Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31						c.(1123-1125)Atg>Ctg		paired box 7							54.0	55.0	55.0					1																	19029758		2203	4300	6503	SO:0001583	missense	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:19029758A>C	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.1123A>C	1.37:g.19029758A>C	ENSP00000364524:p.Met375Leu		Somatic				PAX7_ENST00000375375.3_Missense_Mutation_p.M375L|PAX7_ENST00000400661.3_Missense_Mutation_p.M373L	p.M375L	NM_001135254.1	NP_001128726.1	WXS	Illumina GAIIx	Phase_I	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	7	1206	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	375					E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	ENST00000375375.3	37	c.1123A>C	CCDS186.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.717407	0.68844	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	T;T;T	0.80909	-1.43;-1.43;-1.43	5.41	5.41	0.78517	.	2.593350	0.01163	N	0.006697	D	0.83834	0.5340	M	0.65498	2.005	0.58432	D	0.999996	B;B;B	0.32382	0.055;0.134;0.368	B;B;B	0.35114	0.032;0.067;0.196	T	0.61840	-0.6980	10	0.36615	T	0.2	.	14.5614	0.68140	1.0:0.0:0.0:0.0	.	375;373;375	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	L	375;375;373	ENSP00000364524:M375L;ENSP00000403389:M375L;ENSP00000383502:M373L	ENSP00000364524:M375L	M	+	1	0	PAX7	18902345	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.713000	0.91408	2.179000	0.69175	0.459000	0.35465	ATG		0.632	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		12	21	0	0	0	1	0	12	21				
DDX11	1663	broad.mit.edu	37	12	31237922	31237922	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr12:31237922G>C	ENST00000407793.2	+	5	751	c.500G>C	c.(499-501)aGa>aCa	p.R167T	DDX11_ENST00000228264.6_Missense_Mutation_p.R141T|DDX11_ENST00000542838.1_Missense_Mutation_p.R167T|DDX11_ENST00000545668.1_Missense_Mutation_p.R167T|DDX11_ENST00000350437.4_Missense_Mutation_p.R167T|DDX11_ENST00000251758.5_Missense_Mutation_p.R167T	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	167	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.R167T(11)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAGAAGAAAGAGAGAATCTC	0.612										Multiple Myeloma(12;0.14)																												ENST00000251758.5																			11	Substitution - Missense(11)	p.R167T(11)	lung(6)|kidney(2)|large_intestine(1)|prostate(1)|central_nervous_system(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(499-501)aGa>aCa		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							18.0	20.0	19.0					12																	31237922		2203	4299	6502	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31237922G>C	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.500G>C	12.37:g.31237922G>C	ENSP00000384703:p.Arg167Thr	Multiple Myeloma(12;0.14)	Somatic				DDX11_ENST00000407793.2_Missense_Mutation_p.R167T|DDX11_ENST00000542838.1_Missense_Mutation_p.R167T|DDX11_ENST00000350437.4_Missense_Mutation_p.R167T|DDX11_ENST00000545668.1_Missense_Mutation_p.R167T|DDX11_ENST00000228264.6_Missense_Mutation_p.R141T	p.R167T			WXS	Illumina GAIIx	Phase_I	Q96FC9	DDX11_HUMAN			5	751	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		167			Glu-rich.|Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.500G>C	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.810541	0.00600	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437	T;T;T;T;T;T;T;T	0.59224	4.17;4.17;4.17;4.17;0.28;4.17;4.17;4.17	3.87	0.233	0.15386	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.241085	0.41938	N	0.000785	T	0.18635	0.0447	N	0.00841	-1.15	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.25779	-1.0122	10	0.12430	T	0.62	.	5.1988	0.15252	0.0:0.4995:0.1963:0.3042	.	167;167;167;167	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	T	167;167;167;141;138;141;167;167	ENSP00000443426:R167T;ENSP00000384703:R167T;ENSP00000251758:R167T;ENSP00000228264:R141T;ENSP00000407646:R138T;ENSP00000406457:R141T;ENSP00000440402:R167T;ENSP00000309965:R167T	ENSP00000228264:R141T	R	+	2	0	DDX11	31129189	0.211000	0.23529	0.000000	0.03702	0.000000	0.00434	0.680000	0.25306	-0.264000	0.09365	-1.993000	0.00448	AGA		0.612	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		3	11	0	0	0	1	0	3	11				
NMRK2	27231	broad.mit.edu	37	19	3941074	3941074	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr19:3941074G>A	ENST00000168977.2	+	7	691	c.401G>A	c.(400-402)cGc>cAc	p.R134H	NMRK2_ENST00000593949.1_Missense_Mutation_p.R139H|NMRK2_ENST00000599576.1_Intron	NM_170678.2	NP_733778.1	Q9NPI5	NRK2_HUMAN	nicotinamide riboside kinase 2	134					NAD biosynthetic process (GO:0009435)|negative regulation of myoblast differentiation (GO:0045662)	intracellular (GO:0005622)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										TGCAGTACCCGCAACTACACA	0.577																																						ENST00000168977.2																			0											c.(400-402)cGc>cAc		nicotinamide riboside kinase 2							153.0	130.0	138.0					19																	3941074		2203	4300	6503	SO:0001583	missense	27231							g.chr19:3941074G>A	AF190819	CCDS12115.1, CCDS74259.1	19p13.3	2013-10-28	2012-05-31	2012-05-31	ENSG00000077009	ENSG00000077009			17871	protein-coding gene	gene with protein product	"""muscle-specific beta 1 integrin binding protein"", ""nicotinamide riboside kinase 2"""	608705	"""integrin beta 1 binding protein 3"""	ITGB1BP3		10613898, 15137942	Standard	NM_170678		Approved	MIBP, NRK2	uc002lyz.4	Q9NPI5	OTTHUMG00000181758	ENST00000168977.2:c.401G>A	19.37:g.3941074G>A	ENSP00000168977:p.Arg134His		Somatic				NMRK2_ENST00000599576.1_Intron|NMRK2_ENST00000593949.1_Missense_Mutation_p.R139H	p.R134H	NM_170678.2	NP_733778.1	WXS	Illumina GAIIx	Phase_I					7	691	+								B7ZKR3|Q52M81|Q9NZK3	Missense_Mutation	SNP	ENST00000168977.2	37	c.401G>A	CCDS12115.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615742	0.66672	.	.	ENSG00000077009	ENST00000168977	T	0.65916	-0.18	3.51	2.47	0.30058	.	0.891815	0.09184	U	0.837061	T	0.80465	0.4628	M	0.92507	3.315	0.48975	D	0.999733	D;D	0.89917	1.0;0.97	P;P	0.61132	0.884;0.502	T	0.76908	-0.2785	10	0.87932	D	0	-20.1072	8.4184	0.32685	0.1197:0.0:0.8803:0.0	.	139;134	B7ZKR3;Q9NPI5	.;NRK2_HUMAN	H	134	ENSP00000168977:R134H	ENSP00000168977:R134H	R	+	2	0	ITGB1BP3	3892074	0.999000	0.42202	0.008000	0.14137	0.001000	0.01503	8.047000	0.89440	0.691000	0.31592	-0.218000	0.12543	CGC		0.577	NMRK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457492.1	NM_014446, NM_170678		4	72	0	0	0	1	0	4	72				
SOX14	8403	broad.mit.edu	37	3	137484271	137484271	+	Silent	SNP	C	C	G			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr3:137484271C>G	ENST00000306087.1	+	1	693	c.645C>G	c.(643-645)ccC>ccG	p.P215P		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	215					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						TGCAGCCCCCCGTCGCCTACA	0.662																																						ENST00000306087.1																			0				large_intestine(2)|lung(12)	14						c.(643-645)ccC>ccG		SRY (sex determining region Y)-box 14							45.0	34.0	38.0					3																	137484271		2202	4293	6495	SO:0001819	synonymous_variant	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137484271C>G	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.645C>G	3.37:g.137484271C>G			Somatic					p.P215P	NM_004189.3	NP_004180.1	WXS	Illumina GAIIx	Phase_I	O95416	SOX14_HUMAN			1	693	+			215					B2RAC0|Q3KPH7	Silent	SNP	ENST00000306087.1	37	c.645C>G	CCDS3094.1																																																																																				0.662	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		9	5	0	0	0	1	0	9	5				
TBC1D3	729873	broad.mit.edu	37	17	36352489	36352489	+	De_novo_Start_InFrame	SNP	A	A	C	rs4796259	byFrequency	TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr17:36352489A>C	ENST00000537432.1	-	0	359				RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.F278C|RP11-1407O15.2_ENST00000312412.4_Missense_Mutation_p.F433C			Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3							plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TATAGCATCAAATATCTCATC	0.388																																						ENST00000537432.1																			0				breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5								TBC1 domain family, member 3																																						729873					intracellular	Rab GTPase activator activity	g.chr17:36352489A>C		CCDS45658.1	17q12	2014-09-16			ENSG00000274611	ENSG00000274419			19031	protein-coding gene	gene with protein product	"""prostate cancer gene 17"""	607741				12604796, 12359748, 16863688	Standard	NM_001123391		Approved	TBC1D3A, DKFZp434P2235, PRC17	uc002hoo.2	Q8IZP1	OTTHUMG00000188487		17.37:g.36352489A>C			Somatic				RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.F278C|RP11-1407O15.2_ENST00000312412.4_Missense_Mutation_p.F433C				WXS	Illumina GAIIx	Phase_I	Q8IZP1	TBC3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	0	359	-	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)						A6NGX2|A8K007|Q6DCB4|Q9H0B9|Q9UDD4	Translation_Start_Site	SNP	ENST00000537432.1	37		CCDS45658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.11|16.11	3.028879|3.028879	0.54790|0.54790	.|.	.|.	ENSG00000174093|ENSG00000174093	ENST00000544906;ENST00000520237;ENST00000312412;ENST00000518004|ENST00000523089	T;T;T;T|T	0.09911|0.02812	2.93;2.93;2.93;2.93|4.15	2.62|2.62	2.62|2.62	0.31277|0.31277	.|.	.|.	.|.	.|.	.|.	T|T	0.06826|0.06826	0.0174|0.0174	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.33650|0.33650	-0.9860|-0.9860	6|6	0.87932|0.44086	D|T	0|0.13	.|.	10.5928|10.5928	0.45318|0.45318	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	rs4796259|rs4796259	.|.	.|.	.|.	C|M	278;433;433;429|388	ENSP00000444117:F278C;ENSP00000428261:F433C;ENSP00000308540:F433C;ENSP00000428330:F429C|ENSP00000427867:I388M	ENSP00000308540:F433C|ENSP00000427867:I388M	F|I	-|-	2|3	0|3	RP11-1407O15.2|RP11-1407O15.2	33606288|33606288	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.708000|0.708000	0.40852|0.40852	8.882000|8.882000	0.92420|0.92420	1.196000|1.196000	0.43129|0.43129	0.163000|0.163000	0.16589|0.16589	TTT|ATT		0.388	TBC1D3-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001123391		3	49	0	0	0	1	0	3	49				
APEH	327	broad.mit.edu	37	3	49723322	49723327	+	IGR	DEL	GCGCTG	GCGCTG	-			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr3:49723322_49723327delGCGCTG	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_In_Frame_Del_p.QR406del|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGGACCAGCGCTGGCACTGGACA	0.704																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1216-1221)cagcgcdel		macrophage stimulating 1 (hepatocyte growth factor-like)																																				SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723322_49723327delGCGCTG	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723322_49723327delGCGCTG			Somatic				MST1_ENST00000383728.3_3'UTR	p.QR406del	NM_020998.3	NP_066278.3	WXS	Illumina GAIIx	Phase_I	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	1577_1582	-			392			Kringle 4.		Q9BQ33|Q9P0Y2	In_Frame_Del	DEL	ENST00000296456.5	37	c.1216_1221delCAGCGC	CCDS2801.1																																																																																				0.704	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			7	92						7	92	---	---	---	---
DROSHA	29102	broad.mit.edu	37	5	31526492	31526492	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr5:31526492delT	ENST00000511367.2	-	4	792	c.548delA	c.(547-549)aatfs	p.N183fs	DROSHA_ENST00000442743.1_Frame_Shift_Del_p.N183fs|DROSHA_ENST00000344624.3_Frame_Shift_Del_p.N183fs|DROSHA_ENST00000513349.1_Frame_Shift_Del_p.N183fs|DROSHA_ENST00000504361.1_5'Flank	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	183	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CTGGAAACTATTAAAACTGGG	0.522																																						ENST00000511367.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(547-549)aatfs		drosha, ribonuclease type III							69.0	69.0	69.0					5																	31526492		1872	4115	5987	SO:0001589	frameshift_variant	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31526492delT	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.548delA	5.37:g.31526492delT	ENSP00000425979:p.Asn183fs		Somatic				DROSHA_ENST00000513349.1_Frame_Shift_Del_p.N183fs|DROSHA_ENST00000442743.1_Frame_Shift_Del_p.N183fs|DROSHA_ENST00000344624.3_Frame_Shift_Del_p.N183fs	p.N183fs	NM_013235.4	NP_037367.3	WXS	Illumina GAIIx	Phase_I	Q9NRR4	RNC_HUMAN			4	792	-			183			Pro-rich.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Frame_Shift_Del	DEL	ENST00000511367.2	37	c.548delA	CCDS47195.1																																																																																				0.522	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		26	28						26	28	---	---	---	---
CDRT15L2	256223	broad.mit.edu	37	17	20483993	20483993	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr17:20483993delG	ENST00000399044.1	+	2	817	c.797delG	c.(796-798)tggfs	p.W266fs	RP11-434D2.12_ENST00000580931.1_lincRNA	NM_001190790.1	NP_001177719.1	A8MXV6	CD15L_HUMAN	CMT1A duplicated region transcript 15-like 2	266						integral component of membrane (GO:0016021)				central_nervous_system(1)	1						GTCTGCAACTGGGCATCCAGG	0.567																																						ENST00000399044.1																			0				central_nervous_system(1)	1						c.(796-798)tggfs		CMT1A duplicated region transcript 15-like 2																																				SO:0001589	frameshift_variant	256223					integral to membrane		g.chr17:20483993delG		CCDS54096.1	17p11.2	2008-10-30			ENSG00000214819	ENSG00000214819			34075	protein-coding gene	gene with protein product							Standard	NM_001190790		Approved		uc021tsn.1	A8MXV6	OTTHUMG00000059557	ENST00000399044.1:c.797delG	17.37:g.20483993delG	ENSP00000382000:p.Trp266fs		Somatic					p.W266fs	NM_001190790.1	NP_001177719.1	WXS	Illumina GAIIx	Phase_I	A8MXV6	CD15L_HUMAN			2	817	+			266						Frame_Shift_Del	DEL	ENST00000399044.1	37	c.797delG	CCDS54096.1																																																																																				0.567	CDRT15L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132432.3	XM_170840		2	4						2	4	---	---	---	---
PLCD3	113026	broad.mit.edu	37	17	43192760	43192762	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr17:43192760_43192762delTCC	ENST00000322765.5	-	9	1622_1624	c.1509_1511delGGA	c.(1507-1512)gaggat>gat	p.E503del	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	503					angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.E503D(2)		breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						ctcctcgtcatcctcctcctcct	0.67																																						ENST00000322765.5																			2	Substitution - Missense(2)	p.E503D(2)	prostate(2)	breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						c.(1507-1512)gaggat>gat		phospholipase C, delta 3	Phosphatidylserine(DB00144)			316,3576		28,260,1658						-0.9	0.0			15	741,7257		61,619,3319	no	coding	PLCD3	NM_133373.3		89,879,4977	A1A1,A1R,RR		9.2648,8.1192,8.8898				1057,10833				SO:0001651	inframe_deletion	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43192760_43192762delTCC	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.1509_1511delGGA	17.37:g.43192769_43192771delTCC	ENSP00000313731:p.Glu503del		Somatic				PLCD3_ENST00000540511.1_5'UTR	p.E503del	NM_133373.3	NP_588614.1	WXS	Illumina GAIIx	Phase_I	Q8N3E9	PLCD3_HUMAN			9	1622_1624	-			503					Q8TEC1|Q8TF37|Q96FL6	In_Frame_Del	DEL	ENST00000322765.5	37	c.1509_1511delGGA																																																																																					0.670	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373		5	11						5	11	---	---	---	---
