#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
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																54718							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		5	34	0	0	0	1	0	5	34				
BAZ2B	29994	broad.mit.edu	37	2	160303315	160303315	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:160303315C>G	ENST00000392783.2	-	6	1169	c.674G>C	c.(673-675)aGa>aCa	p.R225T	BAZ2B_ENST00000392782.1_Missense_Mutation_p.R223T|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R223T|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R225T	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	225	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTGTCAACTCTAGCATCCAA	0.358																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(673-675)aGa>aCa		bromodomain adjacent to zinc finger domain, 2B							215.0	202.0	206.0					2																	160303315		1849	4092	5941	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160303315C>G	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.674G>C	2.37:g.160303315C>G	ENSP00000376534:p.Arg225Thr					BAZ2B_ENST00000355831.2_Missense_Mutation_p.R225T|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R223T|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R223T	p.R225T	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			6	1169	-			225			Ser-rich.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.674G>C	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538987	0.65085	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.07114	3.22;3.22;3.22;3.22	5.7	5.7	0.88788	.	0.000000	0.40302	U	0.001139	T	0.25938	0.0632	L	0.46157	1.445	0.45118	D	0.998131	D;D;D;D;D;D	0.89917	0.992;1.0;0.992;0.989;0.989;0.981	D;D;D;D;D;D	0.83275	0.974;0.996;0.974;0.985;0.985;0.966	T	0.00132	-1.2011	10	0.72032	D	0.01	-18.0346	19.8338	0.96646	0.0:1.0:0.0:0.0	.	223;162;225;223;223;225	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;.;BAZ2B_HUMAN	T	223;225;225;223;162	ENSP00000376533:R223T;ENSP00000376534:R225T;ENSP00000348087:R225T;ENSP00000339670:R223T	ENSP00000339670:R223T	R	-	2	0	BAZ2B	160011561	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.417000	0.44653	2.692000	0.91855	0.591000	0.81541	AGA		0.358	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			12	86	0	0	0	1	0	12	86				
MYLK2	85366	broad.mit.edu	37	20	30408135	30408135	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr20:30408135G>A	ENST00000375994.2	+	2	532	c.259G>A	c.(259-261)Gcg>Acg	p.A87T	MYLK2_ENST00000375985.4_Missense_Mutation_p.A87T			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	87			A -> V (in CMH; dbSNP:rs121908107). {ECO:0000269|PubMed:11733062}.		cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CGGGGGGCCCGCGGAGGGCAG	0.682																																						ENST00000375994.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(259-261)Gcg>Acg		myosin light chain kinase 2							18.0	22.0	21.0					20																	30408135		2187	4278	6465	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30408135G>A	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.259G>A	20.37:g.30408135G>A	ENSP00000365162:p.Ala87Thr					MYLK2_ENST00000375985.4_Missense_Mutation_p.A87T	p.A87T			Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		2	532	+			87		A -> V (in CMH).			Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.259G>A	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	g	18.28	3.590195	0.66105	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.68624	-0.34;-0.34	4.55	4.55	0.56014	.	.	.	.	.	T	0.62344	0.2420	L	0.36672	1.1	0.27268	N	0.958447	D	0.65815	0.995	P	0.49799	0.622	T	0.52675	-0.8544	9	0.19147	T	0.46	.	12.6865	0.56949	0.0:0.0:1.0:0.0	.	87	Q9H1R3	MYLK2_HUMAN	T	87	ENSP00000365162:A87T;ENSP00000365152:A87T	ENSP00000365152:A87T	A	+	1	0	MYLK2	29871796	0.048000	0.20356	0.351000	0.25721	0.028000	0.11728	2.573000	0.46007	2.343000	0.79666	0.556000	0.70494	GCG		0.682	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		22	30	0	0	0	1	0	22	30				
USH2A	7399	broad.mit.edu	37	1	216420274	216420274	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:216420274A>G	ENST00000307340.3	-	13	2848	c.2462T>C	c.(2461-2463)gTt>gCt	p.V821A	USH2A_ENST00000366943.2_Missense_Mutation_p.V821A|USH2A_ENST00000366942.3_Missense_Mutation_p.V821A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	821	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTCCCTTCAACATTGGGCTT	0.478										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(2461-2463)gTt>gCt		Usher syndrome 2A (autosomal recessive, mild)							124.0	118.0	120.0					1																	216420274		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216420274A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2462T>C	1.37:g.216420274A>G	ENSP00000305941:p.Val821Ala	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.V821A|USH2A_ENST00000366942.3_Missense_Mutation_p.V821A	p.V821A			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	13	2848	-			821			Laminin EGF-like 6.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.2462T>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	10.74	1.435636	0.25813	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.65549	-0.16;-0.16;-0.16	5.91	5.91	0.95273	EGF-like, laminin (3);	0.175400	0.27109	N	0.020890	T	0.73171	0.3553	M	0.82433	2.59	0.09310	N	1	P;P	0.41710	0.76;0.472	P;B	0.46419	0.516;0.237	T	0.70988	-0.4722	10	0.62326	D	0.03	.	16.3513	0.83213	1.0:0.0:0.0:0.0	.	821;821	O75445-2;O75445	.;USH2A_HUMAN	A	821	ENSP00000305941:V821A;ENSP00000355910:V821A;ENSP00000355909:V821A	ENSP00000305941:V821A	V	-	2	0	USH2A	214486897	0.036000	0.19791	0.264000	0.24511	0.041000	0.13682	3.272000	0.51616	2.252000	0.74401	0.533000	0.62120	GTT		0.478	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		17	46	0	0	0	1	0	17	46				
ITIH5	80760	broad.mit.edu	37	10	7608335	7608335	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr10:7608335C>T	ENST00000256861.6	-	13	2263	c.2185G>A	c.(2185-2187)Gcc>Acc	p.A729T	ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.A515T|ITIH5_ENST00000446830.2_Missense_Mutation_p.A511T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	729					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTTGGAGGGGCGGGTGCCCCA	0.512																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(2185-2187)Gcc>Acc		inter-alpha-trypsin inhibitor heavy chain family, member 5							82.0	79.0	80.0					10																	7608335		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7608335C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2185G>A	10.37:g.7608335C>T	ENSP00000256861:p.Ala729Thr					ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.A515T|ITIH5_ENST00000446830.2_Missense_Mutation_p.A511T	p.A729T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			13	2263	-			729					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.2185G>A		.	.	.	.	.	.	.	.	.	.	C	16.43	3.121577	0.56613	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.12569	2.67;2.67;2.67	5.84	5.84	0.93424	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.093854	0.64402	D	0.000001	T	0.39091	0.1065	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	T	0.01298	-1.1392	9	0.33141	T	0.24	-25.3333	20.1165	0.97939	0.0:1.0:0.0:0.0	.	729;515	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	T	729;515;511	ENSP00000256861:A729T;ENSP00000298441:A515T;ENSP00000387969:A511T	ENSP00000256861:A729T	A	-	1	0	ITIH5	7648341	1.000000	0.71417	0.735000	0.30896	0.097000	0.18754	4.496000	0.60360	2.746000	0.94184	0.655000	0.94253	GCC		0.512	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		8	25	0	0	0	1	0	8	25				
OR10J5	127385	broad.mit.edu	37	1	159505300	159505300	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:159505300C>A	ENST00000334857.2	-	1	542	c.498G>T	c.(496-498)ttG>ttT	p.L166F		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CACAGAACGGCAAATTGAACA	0.443																																						ENST00000334857.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(496-498)ttG>ttT		olfactory receptor, family 10, subfamily J, member 5							114.0	92.0	99.0					1																	159505300		2203	4300	6503	SO:0001583	missense	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505300C>A		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.498G>T	1.37:g.159505300C>A	ENSP00000334441:p.Leu166Phe						p.L166F	NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN			1	542	-	all_hematologic(112;0.0429)		166					B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	c.498G>T	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	C	8.689	0.906963	0.17833	.	.	ENSG00000184155	ENST00000334857	T	0.00253	8.43	4.17	2.23	0.28157	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	M	0.74258	2.255	0.09310	N	1	D	0.71674	0.998	D	0.76575	0.988	T	0.36720	-0.9736	9	0.62326	D	0.03	.	6.5641	0.22503	0.1793:0.7218:0.0:0.099	.	166	Q8NHC4	O10J5_HUMAN	F	166	ENSP00000334441:L166F	ENSP00000334441:L166F	L	-	3	2	OR10J5	157771924	0.000000	0.05858	0.126000	0.21872	0.053000	0.15095	0.050000	0.14120	0.467000	0.27218	0.467000	0.42956	TTG		0.443	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		11	65	1	0	1.58986e-06	1	1.6931e-06	11	65				
ST3GAL6	10402	broad.mit.edu	37	3	98512578	98512578	+	Missense_Mutation	SNP	C	C	A	rs201358543		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr3:98512578C>A	ENST00000483910.1	+	10	1258	c.969C>A	c.(967-969)aaC>aaA	p.N323K	ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000265261.6_Missense_Mutation_p.N205K|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.N323K	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	323					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						TAGAAAAAAACCTCGTAATCA	0.328																																						ENST00000265261.6																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						c.(613-615)aaC>aaA		ST3 beta-galactoside alpha-2,3-sialyltransferase 6							99.0	104.0	102.0					3																	98512578		2203	4300	6503	SO:0001583	missense	10402				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	g.chr3:98512578C>A	AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.969C>A	3.37:g.98512578C>A	ENSP00000417376:p.Asn323Lys					ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.N323K|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.N323K	p.N205K	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN			10	1037	+			323					B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	ENST00000483910.1	37	c.615C>A	CCDS2933.1	.	.	.	.	.	.	.	.	.	.	C	6.834	0.523093	0.13066	.	.	ENSG00000064225	ENST00000483910;ENST00000265261;ENST00000394162	T;T;T	0.28454	1.61;1.61;1.61	5.93	0.23	0.15372	.	0.152670	0.44902	N	0.000415	T	0.13970	0.0338	N	0.17345	0.48	0.26268	N	0.978479	B;B	0.13145	0.007;0.002	B;B	0.15052	0.012;0.007	T	0.13872	-1.0493	10	0.27082	T	0.32	-0.2469	4.6124	0.12409	0.3534:0.4089:0.0:0.2377	.	205;323	F8W6U0;Q9Y274	.;SIA10_HUMAN	K	323;205;323	ENSP00000417376:N323K;ENSP00000265261:N205K;ENSP00000377717:N323K	ENSP00000265261:N205K	N	+	3	2	ST3GAL6	99995268	0.024000	0.19004	0.995000	0.50966	0.808000	0.45660	-1.253000	0.02877	0.279000	0.22186	0.563000	0.77884	AAC		0.328	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100		20	26	1	0	1.10513e-12	1	1.24994e-12	20	26				
NUP88	4927	broad.mit.edu	37	17	5322813	5322813	+	Missense_Mutation	SNP	G	G	A	rs551961860		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:5322813G>A	ENST00000573584.1	-	1	667	c.158C>T	c.(157-159)cCg>cTg	p.P53L	RPAIN_ENST00000381208.5_5'Flank|RPAIN_ENST00000381209.3_5'Flank|RPAIN_ENST00000574003.1_5'Flank|RPAIN_ENST00000536255.2_5'Flank|RPAIN_ENST00000405578.4_5'Flank|RPAIN_ENST00000327154.6_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	53					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CAGCAACTGCGGCGGCGGCGA	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16178	0.0		0.0	False		,,,				2504	0.0					ENST00000573584.1																			0				endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						c.(157-159)cCg>cTg		nucleoporin 88kDa							82.0	84.0	83.0					17																	5322813		2203	4300	6503	SO:0001583	missense	4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5322813G>A	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.158C>T	17.37:g.5322813G>A	ENSP00000458954:p.Pro53Leu						p.P53L	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN			1	667	-			53					D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	c.158C>T	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194024	0.58017	.	.	ENSG00000108559	ENST00000225696	.	.	.	4.32	2.18	0.27775	.	0.519849	0.17376	N	0.176487	T	0.34600	0.0903	L	0.36672	1.1	0.35944	D	0.833402	B;B	0.28820	0.224;0.001	B;B	0.25506	0.061;0.001	T	0.23119	-1.0197	9	0.23302	T	0.38	-35.9825	4.5759	0.12234	0.1209:0.0:0.6686:0.2106	.	53;53	B7Z5I6;Q99567	.;NUP88_HUMAN	L	53	.	ENSP00000225696:P53L	P	-	2	0	NUP88	5263537	0.918000	0.31147	0.970000	0.41538	0.466000	0.32739	1.024000	0.30077	0.661000	0.30985	-0.345000	0.07892	CCG		0.597	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		54	48	0	0	0	1	0	54	48				
SLC2A12	154091	broad.mit.edu	37	6	134312379	134312379	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr6:134312379G>C	ENST00000275230.5	-	5	1923	c.1768C>G	c.(1768-1770)Caa>Gaa	p.Q590E		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	590					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TTTCTTTTTTGAGGCTGTTTT	0.433																																					Melanoma(122;1663 1672 14489 35294 41228)	ENST00000275230.5																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(1768-1770)Caa>Gaa		solute carrier family 2 (facilitated glucose transporter), member 12							132.0	136.0	135.0					6																	134312379		2203	4300	6503	SO:0001583	missense	154091					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	g.chr6:134312379G>C	AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.1768C>G	6.37:g.134312379G>C	ENSP00000275230:p.Gln590Glu						p.Q590E	NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)	5	1923	-	Breast(56;0.214)|Colorectal(23;0.221)		590					B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	37	c.1768C>G	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355525	0.61293	.	.	ENSG00000146411	ENST00000275230	T	0.78246	-1.16	5.63	5.63	0.86233	.	1.706200	0.03137	N	0.166069	T	0.75975	0.3923	L	0.29908	0.895	0.37089	D	0.899334	P	0.49447	0.924	P	0.62298	0.9	T	0.63932	-0.6525	10	0.16420	T	0.52	-9.3709	15.1757	0.72910	0.0:0.0:1.0:0.0	.	590	Q8TD20	GTR12_HUMAN	E	590	ENSP00000275230:Q590E	ENSP00000275230:Q590E	Q	-	1	0	SLC2A12	134354072	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.961000	0.63681	2.664000	0.90586	0.313000	0.20887	CAA		0.433	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			48	88	0	0	0	1	0	48	88				
ZNF775	285971	broad.mit.edu	37	7	150094135	150094135	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:150094135C>G	ENST00000329630.5	+	3	673	c.566C>G	c.(565-567)gCc>gGc	p.A189G		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCGGCCCGCCACCCACTCG	0.736																																						ENST00000329630.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11						c.(565-567)gCc>gGc		zinc finger protein 775							6.0	9.0	8.0					7																	150094135		1988	4049	6037	SO:0001583	missense	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150094135C>G	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.566C>G	7.37:g.150094135C>G	ENSP00000330838:p.Ala189Gly						p.A189G	NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	673	+	Ovarian(565;0.183)|Melanoma(164;0.226)		189					Q8IY24	Missense_Mutation	SNP	ENST00000329630.5	37	c.566C>G	CCDS43678.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417801	0.25552	.	.	ENSG00000196456	ENST00000329630	T	0.60299	0.2	4.59	4.59	0.56863	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32315	0.0825	N	0.03253	-0.375	0.26832	N	0.968565	B	0.11235	0.004	B	0.11329	0.006	T	0.10497	-1.0627	8	.	.	.	.	10.7756	0.46348	0.0:0.8076:0.1923:0.0	.	189	Q96BV0	ZN775_HUMAN	G	189	ENSP00000330838:A189G	.	A	+	2	0	ZNF775	149725068	0.027000	0.19231	0.854000	0.33618	0.244000	0.25665	1.095000	0.30964	2.399000	0.81585	0.306000	0.20318	GCC		0.736	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		3	11	0	0	0	1	0	3	11				
SH2D1A	4068	broad.mit.edu	37	X	123480505	123480505	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chrX:123480505G>A	ENST00000371139.4	+	1	312	c.13G>A	c.(13-15)Gct>Act	p.A5T	SH2D1A_ENST00000360027.4_Missense_Mutation_p.A5T|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000491950.1_3'UTR|SH2D1A_ENST00000477673.2_Missense_Mutation_p.A5T	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	5					cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|humoral immune response (GO:0006959)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGACGCAGTGGCTGTGTATCA	0.602																																						ENST00000371139.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(13-15)Gct>Act		SH2 domain containing 1A							99.0	79.0	86.0					X																	123480505		2203	4300	6503	SO:0001583	missense	4068				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	g.chrX:123480505G>A	AL023657	CCDS14608.1, CCDS48162.1	Xq25	2014-09-17	2010-04-21		ENSG00000183918	ENSG00000183918		"""SH2 domain containing"""	10820	protein-coding gene	gene with protein product	"""Duncan's disease"""	300490	"""lymphoproliferative syndrome"", ""SH2 domain protein 1A"""	IMD5, LYP		9771704, 9774102	Standard	NM_001114937		Approved	XLP, MTCP1, DSHP, XLPD, EBVS, SAP	uc004euf.4	O60880	OTTHUMG00000022344	ENST00000371139.4:c.13G>A	X.37:g.123480505G>A	ENSP00000360181:p.Ala5Thr					SH2D1A_ENST00000360027.4_Missense_Mutation_p.A5T|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000470647.1_3'UTR	p.A5T	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN			1	312	+			5					A8MSW0|O95383|O95384|O95385|O95386|Q6FGS6|Q9UNR0	Missense_Mutation	SNP	ENST00000371139.4	37	c.13G>A	CCDS14608.1	.	.	.	.	.	.	.	.	.	.	G	0.110	-1.139771	0.01728	.	.	ENSG00000183918	ENST00000371139;ENST00000360027;ENST00000394475	D;D	0.98617	-5.03;-5.03	5.51	-8.34	0.00988	SH2 motif (1);	0.718700	0.14370	N	0.323868	D	0.93220	0.7840	N	0.26130	0.795	0.21802	N	0.999537	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	D	0.84861	0.0819	10	0.38643	T	0.18	-11.0685	3.9833	0.09504	0.5926:0.0872:0.1542:0.1661	.	5;5	O60880-4;O60880	.;SH21A_HUMAN	T	5	ENSP00000360181:A5T;ENSP00000353126:A5T	ENSP00000353126:A5T	A	+	1	0	SH2D1A	123308186	0.074000	0.21230	0.138000	0.22173	0.053000	0.15095	-1.005000	0.03674	-1.328000	0.02261	-0.312000	0.09012	GCT		0.602	SH2D1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058174.1	NM_002351		40	16	0	0	0	1	0	40	16				
KIAA1377	57562	broad.mit.edu	37	11	101815012	101815012	+	Nonsense_Mutation	SNP	C	C	T	rs374091656		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:101815012C>T	ENST00000263468.8	+	3	535	c.265C>T	c.(265-267)Cga>Tga	p.R89*		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	89										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TGAGGAGAAACGAAAAGAACA	0.313																																						ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(265-267)Cga>Tga		KIAA1377		C	stop/ARG	0,4406		0,0,2203	58.0	61.0	60.0		265	4.0	0.9	11		60	1,8597	1.2+/-3.3	0,1,4298	no	stop-gained	KIAA1377	NM_020802.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		89/1118	101815012	1,13003	2203	4299	6502	SO:0001587	stop_gained	57562						protein binding	g.chr11:101815012C>T	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.265C>T	11.37:g.101815012C>T	ENSP00000263468:p.Arg89*						p.R89*	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	3	535	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	89					Q4G0U6	Nonsense_Mutation	SNP	ENST00000263468.8	37	c.265C>T	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	C	40	8.293442	0.98747	0.0	1.16E-4	ENSG00000110318	ENST00000263468	.	.	.	5.92	4.02	0.46733	.	0.217453	0.28420	N	0.015409	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.2409	8.6209	0.33859	0.2755:0.6531:0.0:0.0714	.	.	.	.	X	89	.	ENSP00000263468:R89X	R	+	1	2	KIAA1377	101320222	0.971000	0.33674	0.946000	0.38457	0.933000	0.57130	0.941000	0.29005	0.798000	0.33994	0.650000	0.86243	CGA		0.313	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		16	18	0	0	0	1	0	16	18				
FLNA	2316	broad.mit.edu	37	X	153595857	153595857	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chrX:153595857G>A	ENST00000369850.3	-	5	1012	c.776C>T	c.(775-777)aCc>aTc	p.T259I	FLNA_ENST00000360319.4_Missense_Mutation_p.T259I|FLNA_ENST00000422373.1_Missense_Mutation_p.T259I|FLNA_ENST00000344736.4_Missense_Mutation_p.T259I	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	259	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGACAGGTAGGTCATGACAGA	0.617																																						ENST00000422373.1																			0				breast(6)	6						c.(775-777)aCc>aTc		filamin A, alpha							79.0	85.0	83.0					X																	153595857		2198	4300	6498	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153595857G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.776C>T	X.37:g.153595857G>A	ENSP00000358866:p.Thr259Ile					FLNA_ENST00000360319.4_Missense_Mutation_p.T259I|FLNA_ENST00000344736.4_Missense_Mutation_p.T259I|FLNA_ENST00000369850.3_Missense_Mutation_p.T259I	p.T259I	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			5	1024	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		259			Actin-binding.|CH 2.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.776C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057923	0.55325	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09	5.23	5.23	0.72850	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99811	1.1041	10	0.87932	D	0	.	17.9131	0.88940	0.0:0.0:1.0:0.0	.	259;259	P21333-2;P21333	.;FLNA_HUMAN	I	259;232;259;259;259	ENSP00000353467:T259I;ENSP00000416926:T259I;ENSP00000358866:T259I;ENSP00000358863:T259I	ENSP00000358863:T259I	T	-	2	0	FLNA	153249051	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.857000	0.99534	2.163000	0.67991	0.597000	0.82753	ACC		0.617	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			45	15	0	0	0	1	0	45	15				
LRP1	4035	broad.mit.edu	37	12	57553653	57553653	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:57553653A>G	ENST00000243077.3	+	12	2310	c.1844A>G	c.(1843-1845)aAt>aGt	p.N615S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	615					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATGGGAGACAATCTGTACTGG	0.537																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(1843-1845)aAt>aGt		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						142.0	117.0	125.0					12																	57553653		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57553653A>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.1844A>G	12.37:g.57553653A>G	ENSP00000243077:p.Asn615Ser						p.N615S	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	12	2310	+			615					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.1844A>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.639771	0.87760	.	.	ENSG00000123384	ENST00000243077	D	0.96136	-3.92	5.21	5.21	0.72293	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97873	0.9301	M	0.90369	3.11	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.98350	1.0543	10	0.59425	D	0.04	.	13.3819	0.60773	1.0:0.0:0.0:0.0	.	615	Q07954	LRP1_HUMAN	S	615	ENSP00000243077:N615S	ENSP00000243077:N615S	N	+	2	0	LRP1	55839920	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.107000	0.94261	2.326000	0.78906	0.533000	0.62120	AAT		0.537	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		32	62	0	0	0	1	0	32	62				
OR4D11	219986	broad.mit.edu	37	11	59271482	59271482	+	Missense_Mutation	SNP	T	T	C	rs377231049		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:59271482T>C	ENST00000313253.1	+	1	434	c.434T>C	c.(433-435)aTc>aCc	p.I145T		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						ACTGCCCTCATCTCTGCCTCT	0.517																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(433-435)aTc>aCc		olfactory receptor, family 4, subfamily D, member 11							199.0	172.0	181.0					11																	59271482		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271482T>C	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.434T>C	11.37:g.59271482T>C	ENSP00000320077:p.Ile145Thr						p.I145T	NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN			1	434	+			145						Missense_Mutation	SNP	ENST00000313253.1	37	c.434T>C	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	t	4.003	-0.002086	0.07819	.	.	ENSG00000176200	ENST00000313253	T	0.43688	0.94	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	0.283230	0.25408	N	0.030890	T	0.33206	0.0855	L	0.35288	1.05	0.19575	N	0.999962	B	0.15141	0.012	B	0.23852	0.049	T	0.30534	-0.9975	10	0.87932	D	0	-37.8861	9.2723	0.37679	0.0:0.0861:0.0:0.9139	.	145	Q8NGI4	OR4DB_HUMAN	T	145	ENSP00000320077:I145T	ENSP00000320077:I145T	I	+	2	0	OR4D11	59028058	0.000000	0.05858	0.892000	0.35008	0.035000	0.12851	0.731000	0.26058	1.963000	0.57068	0.455000	0.32223	ATC		0.517	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		57	90	0	0	0	1	0	57	90				
ICA1	3382	broad.mit.edu	37	7	8178675	8178675	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:8178675C>T	ENST00000402384.3	-	11	1224	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	ICA1_ENST00000406470.2_Missense_Mutation_p.E320K|ICA1_ENST00000422063.2_Missense_Mutation_p.E349K|ICA1_ENST00000396675.3_Missense_Mutation_p.E320K|ICA1_ENST00000401396.1_Missense_Mutation_p.E308K|ICA1_ENST00000265577.7_Missense_Mutation_p.E319K			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	320					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TTTCCATCTTCAGCTGTAATA	0.373																																						ENST00000402384.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23						c.(958-960)Gaa>Aaa		islet cell autoantigen 1, 69kDa							107.0	99.0	102.0					7																	8178675		2203	4300	6503	SO:0001583	missense	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8178675C>T		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.958G>A	7.37:g.8178675C>T	ENSP00000385570:p.Glu320Lys					ICA1_ENST00000422063.2_Missense_Mutation_p.E349K|ICA1_ENST00000396675.3_Missense_Mutation_p.E320K|ICA1_ENST00000265577.7_Missense_Mutation_p.E319K|ICA1_ENST00000401396.1_Missense_Mutation_p.E308K|ICA1_ENST00000406470.2_Missense_Mutation_p.E320K	p.E320K			Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	11	1224	-		Ovarian(82;0.0612)	320					A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	ENST00000402384.3	37	c.958G>A	CCDS34602.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067212	0.76301	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063	.	.	.	5.17	5.17	0.71159	Islet cell autoantigen Ica1, C-terminal (1);	0.483728	0.21041	N	0.081180	T	0.53753	0.1816	L	0.32530	0.975	0.35381	D	0.78988	P;P;P;P	0.52692	0.955;0.64;0.64;0.856	P;B;B;P	0.54544	0.755;0.334;0.334;0.578	T	0.60510	-0.7249	9	0.44086	T	0.13	-28.1906	12.1473	0.54029	0.0:0.8281:0.1719:0.0	.	349;319;320;308	B3FTQ2;Q96HG3;Q05084;E9PDL4	.;.;ICA69_HUMAN;.	K	320;320;319;320;308;349	.	ENSP00000265577:E319K	E	-	1	0	ICA1	8145200	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.630000	0.54273	2.865000	0.98341	0.655000	0.94253	GAA		0.373	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		9	39	0	0	0	1	0	9	39				
BCAS1	8537	broad.mit.edu	37	20	52644945	52644945	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr20:52644945C>G	ENST00000395961.3	-	4	875	c.709G>C	c.(709-711)Gtc>Ctc	p.V237L	BCAS1_ENST00000411563.1_Missense_Mutation_p.V140L|BCAS1_ENST00000371435.2_Missense_Mutation_p.V237L|BCAS1_ENST00000371440.3_Missense_Mutation_p.V237L	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	237						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCTGCAGGGACATCATCGGAC	0.537																																						ENST00000395961.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(709-711)Gtc>Ctc		breast carcinoma amplified sequence 1							298.0	255.0	270.0					20																	52644945		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52644945C>G	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.709G>C	20.37:g.52644945C>G	ENSP00000379290:p.Val237Leu					BCAS1_ENST00000371435.2_Missense_Mutation_p.V237L|BCAS1_ENST00000371440.3_Missense_Mutation_p.V237L|BCAS1_ENST00000411563.1_Missense_Mutation_p.V140L	p.V237L	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		4	875	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		237					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.709G>C	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226879	0.39399	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000411563	T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71	5.11	4.14	0.48551	.	0.914038	0.09431	N	0.803092	T	0.16471	0.0396	L	0.58101	1.795	0.09310	N	1	P;B;B;P;P;P	0.44241	0.793;0.206;0.206;0.829;0.629;0.629	B;B;B;B;B;B	0.41510	0.344;0.124;0.124;0.359;0.225;0.225	T	0.16305	-1.0407	10	0.42905	T	0.14	2.7972	7.4385	0.27169	0.0:0.7387:0.1708:0.0905	.	140;237;237;237;237;237	B4E2C4;B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;.;BCAS1_HUMAN	L	99;237;115;237;237;140	ENSP00000396361:V99L;ENSP00000360495:V237L;ENSP00000379290:V237L;ENSP00000360490:V237L;ENSP00000397442:V140L	ENSP00000360490:V237L	V	-	1	0	BCAS1	52078352	0.011000	0.17503	0.012000	0.15200	0.109000	0.19521	1.766000	0.38491	1.234000	0.43709	0.563000	0.77884	GTC		0.537	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		74	178	0	0	0	1	0	74	178				
RYR1	6261	broad.mit.edu	37	19	39071027	39071027	+	Silent	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:39071027C>T	ENST00000359596.3	+	101	14529	c.14529C>T	c.(14527-14529)ggC>ggT	p.G4843G	RYR1_ENST00000360985.3_Silent_p.G4838G|RYR1_ENST00000355481.4_Silent_p.G4838G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4843					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGACCGTGGGCCTTCTGGCGG	0.627																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(14512-14514)ggC>ggT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						116.0	90.0	99.0					19																	39071027		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39071027C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14529C>T	19.37:g.39071027C>T						RYR1_ENST00000360985.3_Silent_p.G4838G|RYR1_ENST00000359596.3_Silent_p.G4843G	p.G4838G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		100	14645	+	all_cancers(60;7.91e-06)		4843		L -> V (in MHS1).			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.14514C>T	CCDS33011.1																																																																																				0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			17	25	0	0	0	1	0	17	25				
ITGA7	3679	broad.mit.edu	37	12	56079042	56079042	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:56079042C>T	ENST00000555728.1	-	26	3374	c.3346G>A	c.(3346-3348)Gag>Aag	p.E1116K	ITGA7_ENST00000257880.7_Silent_p.P1153P|ITGA7_ENST00000553804.1_Missense_Mutation_p.E1076K|ITGA7_ENST00000394230.2_Silent_p.P1113P|ITGA7_ENST00000347027.6_Missense_Mutation_p.E1066K|ITGA7_ENST00000257879.6_Missense_Mutation_p.E1072K|ITGA7_ENST00000394229.2_Silent_p.P1109P|ITGA7_ENST00000452168.2_Missense_Mutation_p.E979K			Q13683	ITA7_HUMAN	integrin, alpha 7	1116					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACGGTGGCCTCGGGGTGCTTC	0.602																																						ENST00000257879.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3214-3216)Gag>Aag		integrin, alpha 7							80.0	71.0	74.0					12																	56079042		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56079042C>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3346G>A	12.37:g.56079042C>T	ENSP00000452387:p.Glu1116Lys					ITGA7_ENST00000394230.2_Silent_p.P1113P|ITGA7_ENST00000347027.6_Missense_Mutation_p.E1066K|ITGA7_ENST00000257880.7_Silent_p.P1153P|ITGA7_ENST00000394229.2_Silent_p.P1109P|ITGA7_ENST00000452168.2_Missense_Mutation_p.E979K|ITGA7_ENST00000555728.1_Missense_Mutation_p.E1116K|ITGA7_ENST00000553804.1_Missense_Mutation_p.E1076K	p.E1072K	NM_002206.2	NP_002197.2	Q13683	ITA7_HUMAN			25	3429	-			1116					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.3214G>A		.	.	.	.	.	.	.	.	.	.	C	18.15	3.559524	0.65538	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000555728	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.12	4.23	0.50019	.	5.667610	0.00166	N	0.000006	T	0.30572	0.0769	L	0.56199	1.76	0.80722	D	1	B;B;B;B	0.31611	0.091;0.118;0.331;0.204	B;B;B;B	0.35859	0.064;0.029;0.212;0.05	T	0.03034	-1.1080	10	0.48119	T	0.1	.	11.3461	0.49561	0.0:0.911:0.0:0.089	.	979;1116;1076;1135	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	K	1076;1072;1066;979;1116	ENSP00000452120:E1076K;ENSP00000257879:E1072K;ENSP00000343009:E1066K;ENSP00000393844:E979K;ENSP00000452387:E1116K	ENSP00000257879:E1072K	E	-	1	0	ITGA7	54365309	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.173000	0.50839	1.160000	0.42584	0.555000	0.69702	GAG		0.602	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		10	55	0	0	0	1	0	10	55				
GPR179	440435	broad.mit.edu	37	17	36499189	36499189	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:36499189G>T	ENST00000342292.4	-	1	504	c.484C>A	c.(484-486)Ctg>Atg	p.L162M		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	162					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGCAGGGCCAGCTGTAGGTGG	0.647																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(484-486)Ctg>Atg		G protein-coupled receptor 179							48.0	52.0	51.0					17																	36499189		1957	4130	6087	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36499189G>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.484C>A	17.37:g.36499189G>T	ENSP00000345060:p.Leu162Met						p.L162M	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			1	504	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	162						Missense_Mutation	SNP	ENST00000342292.4	37	c.484C>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905850	0.52333	.	.	ENSG00000188888	ENST00000342292	T	0.80480	-1.38	4.95	4.95	0.65309	.	0.000000	0.56097	D	0.000037	D	0.84683	0.5526	M	0.64997	1.995	0.31586	N	0.654506	D	0.67145	0.996	P	0.57283	0.817	D	0.85294	0.1069	10	0.46703	T	0.11	-11.6664	13.0564	0.58982	0.0:0.0:0.8384:0.1615	.	162	Q6PRD1	GP179_HUMAN	M	162	ENSP00000345060:L162M	ENSP00000345060:L162M	L	-	1	2	GPR179	33752715	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	1.097000	0.30988	2.732000	0.93576	0.655000	0.94253	CTG		0.647	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			26	65	1	0	6.36457e-07	1	6.86704e-07	26	65				
STARD13	90627	broad.mit.edu	37	13	33679799	33679799	+	Silent	SNP	T	T	A	rs149865098		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr13:33679799T>A	ENST00000336934.5	-	14	3389	c.3273A>T	c.(3271-3273)gcA>gcT	p.A1091A	STARD13_ENST00000255486.4_Silent_p.A1083A|STARD13_ENST00000399365.3_Silent_p.A973A	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	1091	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CAACTTCTGCTGCACACAGAT	0.468																																						ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(3271-3273)gcA>gcT		StAR-related lipid transfer (START) domain containing 13							102.0	103.0	103.0					13																	33679799		2203	4300	6503	SO:0001819	synonymous_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33679799T>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.3273A>T	13.37:g.33679799T>A						STARD13_ENST00000399365.3_Silent_p.A973A|STARD13_ENST00000255486.4_Silent_p.A1083A	p.A1091A	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	14	3389	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	1091			START.		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	ENST00000336934.5	37	c.3273A>T	CCDS9348.1																																																																																				0.468	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		40	20	0	0	0	1	0	40	20				
ARHGAP31	57514	broad.mit.edu	37	3	119133958	119133958	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr3:119133958G>C	ENST00000264245.4	+	12	3714	c.3182G>C	c.(3181-3183)gGt>gCt	p.G1061A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1061					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGGCAAGGTGGTGTTCCTGGG	0.587																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(3181-3183)gGt>gCt		Rho GTPase activating protein 31							145.0	162.0	156.0					3																	119133958		2145	4259	6404	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119133958G>C		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3182G>C	3.37:g.119133958G>C	ENSP00000264245:p.Gly1061Ala						p.G1061A	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	3714	+			1061					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.3182G>C	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.682863	0.00101	.	.	ENSG00000031081	ENST00000264245	T	0.05258	3.47	5.39	-1.08	0.09936	.	1.326550	0.04885	N	0.448363	T	0.04407	0.0121	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43442	-0.9391	10	0.28530	T	0.3	.	3.1322	0.06428	0.2825:0.1101:0.4949:0.1125	.	1061	Q2M1Z3	RHG31_HUMAN	A	1061	ENSP00000264245:G1061A	ENSP00000264245:G1061A	G	+	2	0	ARHGAP31	120616648	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.204000	0.17335	-0.724000	0.04908	-2.185000	0.00314	GGT		0.587	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			110	134	0	0	0	1	0	110	134				
EXOC6B	23233	broad.mit.edu	37	2	72968448	72968448	+	Silent	SNP	T	T	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:72968448T>C	ENST00000272427.6	-	2	394	c.264A>G	c.(262-264)gaA>gaG	p.E88E	EXOC6B_ENST00000410104.1_Silent_p.E88E	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	88					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GTTTCTGGGCTTCTCCTCTCA	0.403																																						ENST00000272427.6																			0				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						c.(262-264)gaA>gaG		exocyst complex component 6B							179.0	170.0	172.0					2																	72968448		1841	4095	5936	SO:0001819	synonymous_variant	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72968448T>C	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.264A>G	2.37:g.72968448T>C						EXOC6B_ENST00000410104.1_Silent_p.E88E	p.E88E	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN			2	394	-			88					B8ZZY3	Silent	SNP	ENST00000272427.6	37	c.264A>G	CCDS46333.1																																																																																				0.403	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		58	77	0	0	0	1	0	58	77				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	37	0	0	0	1	0	5	37				
SLAMF6	114836	broad.mit.edu	37	1	160461016	160461016	+	Missense_Mutation	SNP	G	G	A	rs200103158		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:160461016G>A	ENST00000368057.3	-	3	605	c.545C>T	c.(544-546)tCc>tTc	p.S182F	SLAMF6_ENST00000368059.3_Missense_Mutation_p.S182F|SLAMF6_ENST00000368055.1_Missense_Mutation_p.S71F			Q96DU3	SLAF6_HUMAN	SLAM family member 6	182	Ig-like C2-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GGGGTCCCAGGAGACAGTGAG	0.493																																						ENST00000368059.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22						c.(544-546)tCc>tTc		SLAM family member 6							140.0	132.0	135.0					1																	160461016		2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160461016G>A	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.545C>T	1.37:g.160461016G>A	ENSP00000357036:p.Ser182Phe					SLAMF6_ENST00000368055.1_Missense_Mutation_p.S71F|SLAMF6_ENST00000368057.3_Missense_Mutation_p.S182F	p.S182F	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		3	614	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		182			Ig-like.		A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.545C>T	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.444295	0.25987	.	.	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	T;T;T	0.14766	3.78;3.78;2.48	4.37	3.43	0.39272	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.858560	0.10352	N	0.685040	T	0.08447	0.0210	L	0.58925	1.835	0.30299	N	0.78969	P;P;D;D;D;D	0.54397	0.775;0.884;0.957;0.957;0.966;0.966	B;P;P;B;P;P	0.50860	0.426;0.493;0.652;0.426;0.562;0.562	T	0.12837	-1.0532	10	0.12430	T	0.62	-15.4334	8.7786	0.34778	0.1062:0.0:0.8938:0.0	.	71;71;133;182;182;182	B7Z6A7;Q5TAS6;B4E1U5;Q96DU3-2;Q96DU3;B2R8X8	.;.;.;.;SLAF6_HUMAN;.	F	182;182;71	ENSP00000357038:S182F;ENSP00000357036:S182F;ENSP00000357034:S71F	ENSP00000357034:S71F	S	-	2	0	SLAMF6	158727640	0.789000	0.28775	0.958000	0.39756	0.096000	0.18686	0.311000	0.19380	1.162000	0.42619	0.655000	0.94253	TCC		0.493	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		14	71	0	0	0	1	0	14	71				
HGF	3082	broad.mit.edu	37	7	81334750	81334750	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:81334750C>G	ENST00000222390.5	-	17	2192	c.1966G>C	c.(1966-1968)Gaa>Caa	p.E656Q	HGF_ENST00000457544.2_Missense_Mutation_p.E651Q	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	656	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.E656K(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GCACATATTTCAGACTCATTC	0.408																																						ENST00000222390.5																			1	Substitution - Missense(1)	p.E656K(1)	skin(1)	NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(1966-1968)Gaa>Caa		hepatocyte growth factor (hepapoietin A; scatter factor)							118.0	108.0	112.0					7																	81334750		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81334750C>G		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1966G>C	7.37:g.81334750C>G	ENSP00000222390:p.Glu656Gln					HGF_ENST00000457544.2_Missense_Mutation_p.E651Q	p.E656Q	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN			17	2192	-			656			Peptidase S1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.1966G>C	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745924	0.69418	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.88277	-2.36;-2.36	5.1	5.1	0.69264	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.094487	0.64402	D	0.000001	D	0.88570	0.6472	N	0.11341	0.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.87070	0.2159	10	0.21540	T	0.41	.	18.883	0.92364	0.0:1.0:0.0:0.0	.	651;656	P14210-3;P14210	.;HGF_HUMAN	Q	656;651	ENSP00000222390:E656Q;ENSP00000391238:E651Q	ENSP00000222390:E656Q	E	-	1	0	HGF	81172686	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	4.158000	0.58150	2.537000	0.85549	0.467000	0.42956	GAA		0.408	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		3	62	0	0	0	1	0	3	62				
CNTNAP2	26047	broad.mit.edu	37	7	147914379	147914379	+	Splice_Site	SNP	G	G	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:147914379G>C	ENST00000361727.3	+	19	3526		c.e19-1		CNTNAP2_ENST00000538075.1_Splice_Site	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTTTATAACAGATGTTGGTGC	0.478										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.e19-1		contactin associated protein-like 2							97.0	98.0	98.0					7																	147914379		2203	4300	6503	SO:0001630	splice_region_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147914379G>C	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3011-1G>C	7.37:g.147914379G>C		HNSCC(39;0.1)				CNTNAP2_ENST00000538075.1_Splice_Site		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		19	3526	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)						D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Splice_Site	SNP	ENST00000361727.3	37		CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881860	0.33255	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7394	0.88403	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP2	147545312	1.000000	0.71417	0.999000	0.59377	0.099000	0.18886	8.502000	0.90505	2.507000	0.84556	0.655000	0.94253	.		0.478	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		Intron	33	48	0	0	0	1	0	33	48				
LINC00969	440993	broad.mit.edu	37	3	195395471	195395471	+	lincRNA	SNP	T	T	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr3:195395471T>A	ENST00000445430.1	+	0	878									long intergenic non-protein coding RNA 969																		AGGGCAGGCCTTCCTTGCCAG	0.612																																						ENST00000445430.1																			0																																																			440993							g.chr3:195395471T>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395471T>A														0	878	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.612	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			11	59	0	0	0	1	0	11	59				
KDELC2	143888	broad.mit.edu	37	11	108350156	108350156	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:108350156C>T	ENST00000323468.5	-	6	1230	c.1165G>A	c.(1165-1167)Gac>Aac	p.D389N	KDELC2_ENST00000434945.2_Missense_Mutation_p.D333N|KDELC2_ENST00000375648.1_Missense_Mutation_p.D333N|KDELC2_ENST00000532730.1_Intron	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	389						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		ACCAGACTGTCGCCCAGCATG	0.388																																						ENST00000434945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(997-999)Gac>Aac		KDEL (Lys-Asp-Glu-Leu) containing 2							79.0	77.0	77.0					11																	108350156		1919	4131	6050	SO:0001583	missense	143888					endoplasmic reticulum lumen		g.chr11:108350156C>T	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.1165G>A	11.37:g.108350156C>T	ENSP00000315386:p.Asp389Asn					KDELC2_ENST00000375648.1_Missense_Mutation_p.D333N|KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000323468.5_Missense_Mutation_p.D389N	p.D333N			Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	5	1299	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	389					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	ENST00000323468.5	37	c.997G>A	CCDS41711.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824102	0.32237	.	.	ENSG00000178202	ENST00000323468;ENST00000434945;ENST00000375648	T;T;T	0.29142	1.58;1.58;1.58	5.05	2.2	0.27929	.	0.191409	0.56097	N	0.000040	T	0.14184	0.0343	N	0.04335	-0.225	0.49389	D	0.99978	B;B	0.23937	0.068;0.094	B;B	0.24701	0.055;0.03	T	0.07654	-1.0761	10	0.32370	T	0.25	-15.9464	10.8997	0.47045	0.0:0.7842:0.0:0.2158	.	389;333	Q7Z4H8;Q7Z4H8-2	KDEL2_HUMAN;.	N	389;333;333	ENSP00000315386:D389N;ENSP00000413429:D333N;ENSP00000364799:D333N	ENSP00000315386:D389N	D	-	1	0	KDELC2	107855366	0.924000	0.31332	0.710000	0.30468	0.957000	0.61999	1.794000	0.38774	0.841000	0.35020	0.655000	0.94253	GAC		0.388	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		13	27	0	0	0	1	0	13	27				
TTN	7273	broad.mit.edu	37	2	179615135	179615135	+	Intron	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:179615135A>G	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.Y3998H|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			AATATTGAATAGTTTTCCAAC	0.338																																						ENST00000360870.5																			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.(11992-11994)Tat>Cat		titin							125.0	123.0	124.0					2																	179615135		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615135A>G	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.10360+2715T>C	2.37:g.179615135A>G						TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron	p.Y3998H	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12214	-			9814					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.11992T>C		.	.	.	.	.	.	.	.	.	.	A	5.862	0.343176	0.11069	.	.	ENSG00000155657	ENST00000360870	T	0.66280	-0.2	5.43	2.8	0.32819	.	.	.	.	.	T	0.35038	0.0918	N	0.11201	0.11	0.23754	N	0.996932	B	0.06786	0.001	B	0.06405	0.002	T	0.17198	-1.0377	9	0.15952	T	0.53	.	3.4032	0.07331	0.5524:0.0:0.2783:0.1693	.	3998	Q8WZ42-6	.	H	3998	ENSP00000354117:Y3998H	ENSP00000354117:Y3998H	Y	-	1	0	TTN	179323380	0.203000	0.23435	1.000000	0.80357	0.197000	0.23852	1.804000	0.38873	1.010000	0.39314	0.533000	0.62120	TAT		0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	36	0	0	0	1	0	22	36				
KIAA1109	84162	broad.mit.edu	37	4	123150333	123150333	+	Missense_Mutation	SNP	C	C	T	rs371237864		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr4:123150333C>T	ENST00000264501.4	+	25	3353	c.2980C>T	c.(2980-2982)Cgt>Tgt	p.R994C	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R994C|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R994C			Q2LD37	K1109_HUMAN	KIAA1109	994					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TACTATGATTCGTTTAGCAGT	0.358																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(2980-2982)Cgt>Tgt		KIAA1109		C	CYS/ARG	0,3752		0,0,1876	218.0	203.0	208.0		2980	5.3	1.0	4		208	1,8239		0,1,4119	no	missense	KIAA1109	NM_015312.3	180	0,1,5995	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	994/5006	123150333	1,11991	1876	4120	5996	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123150333C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2980C>T	4.37:g.123150333C>T	ENSP00000264501:p.Arg994Cys					KIAA1109_ENST00000388738.3_Missense_Mutation_p.R994C|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R994C	p.R994C			Q2LD37	K1109_HUMAN			25	3353	+			994					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.2980C>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.941795|4.941795	0.92526|0.92526	0.0|0.0	1.21E-4|1.21E-4	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637;ENST00000449251|ENST00000424425	T;T;T;T|.	0.52983|.	0.64;0.64;0.64;0.64|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.381500|.	0.22750|.	U|.	0.056090|.	T|T	0.77232|0.77232	0.4100|0.4100	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.77557|.	0.99|.	T|T	0.76366|0.76366	-0.2985|-0.2985	10|5	0.87932|.	D|.	0|.	.|.	19.3889|19.3889	0.94570|0.94570	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	994|.	Q2LD37|.	K1109_HUMAN|.	C|L	994;994;994;159|825	ENSP00000264501:R994C;ENSP00000373390:R994C;ENSP00000389925:R994C;ENSP00000413018:R159C|.	ENSP00000264501:R994C|.	R|S	+|+	1|2	0|0	KIAA1109|KIAA1109	123369783|123369783	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.605000|7.605000	0.82844|0.82844	2.637000|2.637000	0.89404|0.89404	0.561000|0.561000	0.74099|0.74099	CGT|TCG		0.358	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		25	24	0	0	0	1	0	25	24				
LRRC74A	145497	broad.mit.edu	37	14	77297647	77297647	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr14:77297647G>A	ENST00000393774.3	+	3	443	c.319G>A	c.(319-321)Gag>Aag	p.E107K	C14orf166B_ENST00000450042.2_Missense_Mutation_p.E90K|C14orf166B_ENST00000460005.1_3'UTR	NM_194287.2	NP_919263.2														breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GAACATGGAGGAGTCCTACGT	0.537																																					Ovarian(165;1056 1958 32571 36789 48728)	ENST00000393774.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18						c.(319-321)Gag>Aag		chromosome 14 open reading frame 166B							137.0	116.0	123.0					14																	77297647		2203	4300	6503	SO:0001583	missense	145497							g.chr14:77297647G>A																												ENST00000393774.3:c.319G>A	14.37:g.77297647G>A	ENSP00000377369:p.Glu107Lys					C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Missense_Mutation_p.E90K	p.E107K	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)	3	443	+			107						Missense_Mutation	SNP	ENST00000393774.3	37	c.319G>A	CCDS9853.2	.	.	.	.	.	.	.	.	.	.	G	15.26	2.779368	0.49891	.	.	ENSG00000100565	ENST00000393774;ENST00000450042	T;T	0.52526	0.66;2.39	5.66	5.66	0.87406	.	0.486725	0.24764	N	0.035794	T	0.37265	0.0997	L	0.49350	1.555	0.80722	D	1	P	0.37663	0.604	B	0.34779	0.189	T	0.15578	-1.0432	10	0.07482	T	0.82	.	12.2405	0.54540	0.0804:0.0:0.9196:0.0	.	107	Q0VAA2	CN16B_HUMAN	K	107;90	ENSP00000377369:E107K;ENSP00000396260:E90K	ENSP00000216450:E107K	E	+	1	0	C14orf166B	76367400	0.984000	0.35163	0.872000	0.34217	0.926000	0.56050	2.252000	0.43196	2.682000	0.91365	0.555000	0.69702	GAG		0.537	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1			44	65	0	0	0	1	0	44	65				
CPA3	1359	broad.mit.edu	37	3	148614363	148614363	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr3:148614363T>A	ENST00000296046.3	+	11	1175	c.1123T>A	c.(1123-1125)Ttt>Att	p.F375I	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	375					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CAAACACACATTTGCCTTTGA	0.408																																						ENST00000296046.3																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(1123-1125)Ttt>Att		carboxypeptidase A3 (mast cell)							84.0	85.0	85.0					3																	148614363		2203	4299	6502	SO:0001583	missense	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148614363T>A		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.1123T>A	3.37:g.148614363T>A	ENSP00000296046:p.Phe375Ile					RP11-680B3.2_ENST00000488190.1_RNA	p.F375I	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		11	1175	+			375					Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	c.1123T>A	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	T	33	5.200529	0.94997	.	.	ENSG00000163751	ENST00000296046	T	0.10763	2.84	5.52	5.52	0.82312	Peptidase M14, carboxypeptidase A (2);	0.057720	0.64402	D	0.000001	T	0.33818	0.0876	M	0.73753	2.245	0.54753	D	0.999983	D	0.89917	1.0	D	0.87578	0.998	T	0.07121	-1.0789	10	0.87932	D	0	.	14.6257	0.68618	0.0:0.0:0.0:1.0	.	375	P15088	CBPA3_HUMAN	I	375	ENSP00000296046:F375I	ENSP00000296046:F375I	F	+	1	0	CPA3	150097053	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.506000	0.81665	2.106000	0.64143	0.482000	0.46254	TTT		0.408	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		24	67	0	0	0	1	0	24	67				
TP63	8626	broad.mit.edu	37	3	189582020	189582020	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr3:189582020G>A	ENST00000264731.3	+	5	668		c.e5-1		TP63_ENST00000392461.3_Splice_Site|TP63_ENST00000392463.2_Splice_Site|TP63_ENST00000449992.1_Splice_Site|TP63_ENST00000456148.1_Splice_Site|TP63_ENST00000320472.5_Splice_Site|TP63_ENST00000354600.5_Splice_Site|TP63_ENST00000382063.4_Splice_Site|TP63_ENST00000437221.1_Splice_Site|TP63_ENST00000392460.3_Splice_Site|TP63_ENST00000440651.2_Splice_Site|TP63_ENST00000418709.2_Splice_Site	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63						apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACTCTAAGCAGTATTCCACTG	0.458										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.e5-1		tumor protein p63							173.0	181.0	178.0					3																	189582020		2203	4300	6503	SO:0001630	splice_region_variant	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189582020G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.580-1G>A	3.37:g.189582020G>A		HNSCC(45;0.13)				TP63_ENST00000320472.5_Splice_Site|TP63_ENST00000392463.2_Splice_Site|TP63_ENST00000440651.2_Splice_Site|TP63_ENST00000418709.2_Splice_Site|TP63_ENST00000449992.1_Splice_Site|TP63_ENST00000392461.3_Splice_Site|TP63_ENST00000456148.1_Splice_Site|TP63_ENST00000392460.3_Splice_Site|TP63_ENST00000382063.4_Splice_Site|TP63_ENST00000437221.1_Splice_Site|TP63_ENST00000354600.5_Splice_Site		NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	5	668	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)							O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Splice_Site	SNP	ENST00000264731.3	37		CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666398	0.88251	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000434928;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4235	0.90600	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TP63	191064714	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.768000	0.98965	2.663000	0.90544	0.655000	0.94253	.		0.458	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722	Intron	165	142	0	0	0	1	0	165	142				
TLE2	7089	broad.mit.edu	37	19	3005477	3005477	+	Silent	SNP	C	C	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:3005477C>A	ENST00000262953.6	-	17	2116	c.1854G>T	c.(1852-1854)ctG>ctT	p.L618L	TLE2_ENST00000586422.1_Intron|TLE2_ENST00000590536.1_Silent_p.L619L|TLE2_ENST00000591529.1_Silent_p.L632L|TLE2_ENST00000443826.3_Silent_p.L496L|TLE2_ENST00000426948.2_Silent_p.L632L|TLE2_ENST00000447365.2_Silent_p.L285L|TLE2_ENST00000455444.2_Silent_p.L496L	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	618					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCTCCCGCAGGTCCCAGC	0.632																																						ENST00000262953.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13						c.(1852-1854)ctG>ctT		transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)							36.0	42.0	40.0					19																	3005477		2113	4251	6364	SO:0001819	synonymous_variant	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3005477C>A	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1854G>T	19.37:g.3005477C>A						TLE2_ENST00000447365.2_Silent_p.L285L|TLE2_ENST00000443826.3_Silent_p.L496L|TLE2_ENST00000426948.2_Silent_p.L632L|TLE2_ENST00000591529.1_Silent_p.L632L|TLE2_ENST00000590536.1_Silent_p.L619L|TLE2_ENST00000455444.2_Silent_p.L496L|TLE2_ENST00000586422.1_Intron	p.L618L	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	17	2116	-			618					B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Silent	SNP	ENST00000262953.6	37	c.1854G>T	CCDS45911.1																																																																																				0.632	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260		9	24	1	0	0.000274275	1	0.000284691	9	24				
VGLL4	9686	broad.mit.edu	37	3	11643423	11643423	+	Silent	SNP	G	G	T	rs151086238	byFrequency	TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr3:11643423G>T	ENST00000430365.2	-	2	561	c.156C>A	c.(154-156)acC>acA	p.T52T	VGLL4_ENST00000480288.1_5'Flank|VGLL4_ENST00000404339.1_Silent_p.T51T|VGLL4_ENST00000273038.3_Silent_p.T46T|VGLL4_ENST00000413604.1_5'UTR	NM_001128219.1	NP_001121691.1	Q14135	VGLL4_HUMAN	vestigial-like family member 4	46					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		GGGGAGGGCCGGTGCGGTGAC	0.592																																						ENST00000273038.3																			0				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(136-138)acC>acA		vestigial like 4 (Drosophila)							79.0	77.0	78.0					3																	11643423		2203	4300	6503	SO:0001819	synonymous_variant	9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11643423G>T	D50911	CCDS2606.1, CCDS46754.1, CCDS46755.1, CCDS46756.1, CCDS68342.1, CCDS68343.1	3p25.2	2014-03-03	2014-03-03		ENSG00000144560	ENSG00000144560			28966	protein-coding gene	gene with protein product			"""vestigial like 4 (Drosophila)"""			8590280, 15140898	Standard	NM_001284390		Approved	KIAA0121	uc010hdx.1	Q14135	OTTHUMG00000129739	ENST00000430365.2:c.156C>A	3.37:g.11643423G>T						VGLL4_ENST00000404339.1_Silent_p.T51T|VGLL4_ENST00000430365.2_Silent_p.T52T|VGLL4_ENST00000413604.1_5'UTR	p.T46T	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	3	503	-			46					B4DTS7|J3KN68|Q7L5V0|Q9BQ78	Silent	SNP	ENST00000430365.2	37	c.138C>A	CCDS46754.1																																																																																				0.592	VGLL4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339133.1	NM_014667		8	47	1	0	0.000157383	1	0.0001644	8	47				
MAGEB18	286514	broad.mit.edu	37	X	26157865	26157865	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chrX:26157865G>T	ENST00000325250.1	+	2	950	c.763G>T	c.(763-765)Gag>Tag	p.E255*		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	255	Interaction with LNX1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AAAGTACCTGGAGTACCAGCA	0.473																																						ENST00000325250.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						c.(763-765)Gag>Tag		melanoma antigen family B, 18							80.0	69.0	73.0					X																	26157865		2202	4300	6502	SO:0001587	stop_gained	286514						protein binding	g.chrX:26157865G>T	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.763G>T	X.37:g.26157865G>T	ENSP00000314543:p.Glu255*						p.E255*	NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN			2	950	+			255			MAGE.			Nonsense_Mutation	SNP	ENST00000325250.1	37	c.763G>T	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018531	0.54576	.	.	ENSG00000176774	ENST00000325250	.	.	.	4.56	-0.23	0.13090	.	0.051828	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.1602	0.10280	0.2956:0.3248:0.3796:0.0	.	.	.	.	X	255	.	ENSP00000314543:E255X	E	+	1	0	MAGEB18	26067786	1.000000	0.71417	0.257000	0.24404	0.157000	0.22087	0.431000	0.21444	-0.189000	0.10482	-0.881000	0.02953	GAG		0.473	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		12	7	1	0	7.93312e-07	1	8.50348e-07	12	7				
THOC2	57187	broad.mit.edu	37	X	122747346	122747346	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chrX:122747346G>C	ENST00000245838.8	-	36	4612	c.4581C>G	c.(4579-4581)gaC>gaG	p.D1527E	THOC2_ENST00000355725.4_Missense_Mutation_p.D1527E|THOC2_ENST00000497887.1_5'UTR|THOC2_ENST00000491737.1_Missense_Mutation_p.D1412E	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1527	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTTTTTCCTTGTCTTTCTCAT	0.333																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(4579-4581)gaC>gaG		THO complex 2							94.0	80.0	85.0					X																	122747346		1801	4052	5853	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122747346G>C	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.4581C>G	X.37:g.122747346G>C	ENSP00000245838:p.Asp1527Glu					THOC2_ENST00000491737.1_Missense_Mutation_p.D1412E|THOC2_ENST00000355725.4_Missense_Mutation_p.D1527E|THOC2_ENST00000464992.1_5'UTR	p.D1527E	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			36	4612	-			1527			Lys-rich.		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.4581C>G	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.82|11.82	1.751303|1.751303	0.31046|0.31046	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000245838;ENST00000455053;ENST00000355725;ENST00000416618;ENST00000491737|ENST00000448128;ENST00000441692	.|.	.|.	.|.	5.0|5.0	3.08|3.08	0.35506|0.35506	.|.	0.117096|.	0.37906|.	N|.	0.001889|.	T|T	0.20495|0.20495	0.0493|0.0493	N|N	0.04203|0.04203	-0.255|-0.255	0.35987|0.35987	D|D	0.836451|0.836451	B|.	0.06786|.	0.001|.	B|.	0.01281|.	0.0|.	T|T	0.12091|0.12091	-1.0561|-1.0561	9|5	0.02654|.	T|.	1|.	-10.1667|-10.1667	2.3867|2.3867	0.04367|0.04367	0.1008:0.167:0.461:0.2713|0.1008:0.167:0.461:0.2713	.|.	1527|.	Q8NI27|.	THOC2_HUMAN|.	E|R	1527;20;1527;116;1412|123;322	.|.	ENSP00000245838:D1527E|.	D|T	-|-	3|2	2|0	THOC2|THOC2	122575027|122575027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.328000|1.328000	0.33758|0.33758	1.183000|1.183000	0.42943|0.42943	-0.269000|-0.269000	0.10298|0.10298	GAC|ACA		0.333	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			30	4	0	0	0	1	0	30	4				
CROCCP2	84809	broad.mit.edu	37	1	16959704	16959704	+	lincRNA	SNP	C	C	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:16959704C>A	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCTCGTGGAGCACCTTGTCCC	0.667																																						ENST00000412962.1																			0																																																			84809							g.chr1:16959704C>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16959704C>A														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.667	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		8	44	1	0	0.00307968	1	0.00317652	8	44				
SALL1	6299	broad.mit.edu	37	16	51175040	51175040	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:51175040C>T	ENST00000251020.4	-	2	1126	c.1093G>A	c.(1093-1095)Gtc>Atc	p.V365I	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.V268I|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	365					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGGTTGCTGACATGGGAGGCC	0.522																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(802-804)Gtc>Atc		spalt-like transcription factor 1							67.0	70.0	69.0					16																	51175040		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175040C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1093G>A	16.37:g.51175040C>T	ENSP00000251020:p.Val365Ile					SALL1_ENST00000251020.4_Missense_Mutation_p.V365I|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	p.V268I	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1233	-		all_cancers(37;0.0322)	365					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.802G>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	8.314	0.822753	0.16678	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06608	3.28;3.33	4.65	1.55	0.23275	.	0.355484	0.29300	N	0.012557	T	0.04452	0.0122	L	0.29908	0.895	0.27558	N	0.950286	B	0.02656	0.0	B	0.01281	0.0	T	0.34576	-0.9823	10	0.34782	T	0.22	.	6.0994	0.20039	0.0:0.5564:0.1748:0.2688	.	365	Q9NSC2	SALL1_HUMAN	I	365;268;329	ENSP00000251020:V365I;ENSP00000407914:V268I	ENSP00000251020:V365I	V	-	1	0	SALL1	49732541	0.999000	0.42202	0.439000	0.26833	0.712000	0.41017	3.192000	0.50989	0.164000	0.19529	-0.251000	0.11542	GTC		0.522	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		25	70	0	0	0	1	0	25	70				
C19orf66	55337	broad.mit.edu	37	19	10200662	10200662	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:10200662G>T	ENST00000253110.11	+	5	621	c.323G>T	c.(322-324)cGg>cTg	p.R108L	CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000591813.1_Missense_Mutation_p.R108L|C19orf66_ENST00000397881.3_Missense_Mutation_p.R57L	NM_018381.2	NP_060851.2	Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	108										large_intestine(3)|skin(1)	4						GCTGTGGACCGGCAGTTTGCC	0.607																																						ENST00000397881.3																			0				large_intestine(3)|skin(1)	4						c.(169-171)cGg>cTg		chromosome 19 open reading frame 66							48.0	49.0	49.0					19																	10200662		2169	4264	6433	SO:0001583	missense	55337							g.chr19:10200662G>T		CCDS45957.1	19p13.2	2012-10-26			ENSG00000130813	ENSG00000130813			25649	protein-coding gene	gene with protein product						12477932	Standard	NM_018381		Approved	FLJ11286	uc002mmu.4	Q9NUL5		ENST00000253110.11:c.323G>T	19.37:g.10200662G>T	ENSP00000253110:p.Arg108Leu					CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000591813.1_Missense_Mutation_p.R108L|C19orf66_ENST00000253110.11_Missense_Mutation_p.R108L	p.R57L			Q9NUL5	CS066_HUMAN			5	647	+			108					A8MQT9|Q4G188|Q8IYH6|Q8N8V1	Missense_Mutation	SNP	ENST00000253110.11	37	c.170G>T	CCDS45957.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121655	0.56613	.	.	ENSG00000130813	ENST00000253110;ENST00000397881	.	.	.	4.3	4.3	0.51218	.	0.432330	0.16698	N	0.203268	T	0.39009	0.1062	N	0.24115	0.695	0.41141	D	0.98595	P;P;P	0.47841	0.901;0.772;0.772	B;B;B	0.39465	0.3;0.26;0.26	T	0.45086	-0.9285	9	0.56958	D	0.05	-22.0365	13.8014	0.63202	0.0:0.0:1.0:0.0	.	57;108;108	Q9NUL5-2;Q9NUL5-4;Q9NUL5	.;.;CS066_HUMAN	L	108;57	.	ENSP00000253110:R108L	R	+	2	0	C19orf66	10061662	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.299000	0.59073	2.236000	0.73375	0.561000	0.74099	CGG		0.607	C19orf66-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451129.1	NM_018381		6	9	1	0	2.7689e-08	1	3.06824e-08	6	9				
RORB	6096	broad.mit.edu	37	9	77280437	77280437	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr9:77280437G>C	ENST00000396204.2	+	7	959	c.959G>C	c.(958-960)cGt>cCt	p.R320P	RORB_ENST00000376896.3_Missense_Mutation_p.R309P			Q92753	RORB_HUMAN	RAR-related orphan receptor B	320	Ligand-binding. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R309H(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	AGAATGTGCCGTGCCTTCAAC	0.313																																						ENST00000376896.2																			1	Substitution - Missense(1)	p.R309H(1)	prostate(1)	breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(925-927)cGt>cCt		RAR-related orphan receptor B							171.0	147.0	155.0					9																	77280437		2203	4300	6503	SO:0001583	missense	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77280437G>C	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.959G>C	9.37:g.77280437G>C	ENSP00000379507:p.Arg320Pro					RORB_ENST00000396204.2_Missense_Mutation_p.R320P	p.R309P	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN			7	1538	+			320			Ligand-binding (Potential).		Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	37	c.926G>C		.	.	.	.	.	.	.	.	.	.	G	30	5.049723	0.93740	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.96745	-4.11;-4.11	5.92	5.92	0.95590	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.100525	0.64402	D	0.000002	D	0.98204	0.9406	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97933	1.0321	10	0.49607	T	0.09	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	320;309	Q92753;Q58EY0	RORB_HUMAN;.	P	309;320	ENSP00000366093:R309P;ENSP00000379507:R320P	ENSP00000366093:R309P	R	+	2	0	RORB	76470257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.822000	0.97130	0.650000	0.86243	CGT		0.313	RORB-201	KNOWN	basic	protein_coding	protein_coding				29	64	0	0	0	1	0	29	64				
PMFBP1	83449	broad.mit.edu	37	16	72170468	72170468	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:72170468C>T	ENST00000237353.10	-	9	1343	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	PMFBP1_ENST00000355636.6_Missense_Mutation_p.R216Q|PMFBP1_ENST00000537465.1_Missense_Mutation_p.R361Q	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	361						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TGTCTCCTCCCGCAGTCCGTG	0.587																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(1081-1083)cGg>cAg		polyamine modulated factor 1 binding protein 1							134.0	112.0	119.0					16																	72170468		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72170468C>T	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.1082G>A	16.37:g.72170468C>T	ENSP00000237353:p.Arg361Gln					PMFBP1_ENST00000237353.10_Missense_Mutation_p.R361Q|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R216Q	p.R361Q			Q8TBY8	PMFBP_HUMAN			9	1240	-		Ovarian(137;0.179)	361					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.1082G>A	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858088	0.32791	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.14766	2.48;2.49;2.48	5.21	1.81	0.25067	.	0.000000	0.37219	N	0.002192	T	0.20129	0.0484	L	0.36672	1.1	0.09310	N	1	D;P;D	0.71674	0.998;0.572;0.998	D;B;D	0.75484	0.986;0.142;0.986	T	0.07731	-1.0757	10	0.24483	T	0.36	-4.5195	7.0635	0.25139	0.1493:0.6782:0.0:0.1725	.	361;361;361	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	Q	361;361;216	ENSP00000443817:R361Q;ENSP00000237353:R361Q;ENSP00000347854:R216Q	ENSP00000237353:R361Q	R	-	2	0	PMFBP1	70727969	0.136000	0.22515	0.676000	0.29932	0.075000	0.17131	0.956000	0.29202	0.581000	0.29539	0.563000	0.77884	CGG		0.587	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		25	78	0	0	0	1	0	25	78				
USH2A	7399	broad.mit.edu	37	1	215955496	215955496	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:215955496C>A	ENST00000307340.3	-	54	11014	c.10628G>T	c.(10627-10629)cGt>cTt	p.R3543L	USH2A_ENST00000366943.2_Missense_Mutation_p.R3543L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3543	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.R3543H(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCCCGAAAACGTTCAATTCC	0.378										HNSCC(13;0.011)																												ENST00000366943.2																			1	Substitution - Missense(1)	p.R3543H(1)	prostate(1)	NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(10627-10629)cGt>cTt		Usher syndrome 2A (autosomal recessive, mild)							84.0	81.0	82.0					1																	215955496		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215955496C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10628G>T	1.37:g.215955496C>A	ENSP00000305941:p.Arg3543Leu	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.R3543L	p.R3543L			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	54	11014	-			3543			Fibronectin type-III 20.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10628G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.366632	0.24771	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.39997	1.05;1.05	5.76	-0.559	0.11792	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.465304	0.18055	N	0.153160	T	0.27765	0.0683	L	0.46741	1.465	0.21915	N	0.999476	B	0.11235	0.004	B	0.11329	0.006	T	0.29941	-0.9995	10	0.11182	T	0.66	.	6.7202	0.23327	0.1051:0.5327:0.0:0.3622	.	3543	O75445	USH2A_HUMAN	L	3543	ENSP00000305941:R3543L;ENSP00000355910:R3543L	ENSP00000305941:R3543L	R	-	2	0	USH2A	214022119	0.113000	0.22115	0.000000	0.03702	0.736000	0.42039	0.708000	0.25719	-0.266000	0.09339	-0.157000	0.13467	CGT		0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		19	52	1	0	3.32936e-07	1	3.61599e-07	19	52				
TAPT1-AS1	202020	broad.mit.edu	37	4	16258050	16258050	+	RNA	SNP	C	C	T	rs203448	byFrequency	TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr4:16258050C>T	ENST00000570786.1	+	0	405				TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA	NR_027696.1				TAPT1 antisense RNA 1 (head to head)																		TAAACCTGCCCGTGACCTTGT	0.542																																						ENST00000570786.1																			0																																																			202020							g.chr4:16258050C>T			4p15.32	2012-11-06	2012-11-06		ENSG00000263327	ENSG00000263327		"""Long non-coding RNAs"""	26832	non-coding RNA	RNA, long non-coding							Standard	NR_027696		Approved	FLJ39653			OTTHUMG00000160321		4.37:g.16258050C>T						TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA		NR_027696.1						0	405	+									RNA	SNP	ENST00000570786.1	37																																																																																						0.542	TAPT1-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000439459.1	NR_027696		7	29	0	0	0	1	0	7	29				
SDAD1	55153	broad.mit.edu	37	4	76879032	76879032	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr4:76879032G>A	ENST00000356260.5	-	18	1664	c.1546C>T	c.(1546-1548)Caa>Taa	p.Q516*	SDAD1_ENST00000395711.4_Nonsense_Mutation_p.Q479*|SDAD1_ENST00000513089.1_5'Flank	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	516					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAAGAGTGTTGCACATCAATC	0.413																																						ENST00000356260.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(1546-1548)Caa>Taa		SDA1 domain containing 1							196.0	186.0	189.0					4																	76879032		2203	4300	6503	SO:0001587	stop_gained	55153				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	g.chr4:76879032G>A	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1546C>T	4.37:g.76879032G>A	ENSP00000348596:p.Gln516*					SDAD1_ENST00000395711.4_Nonsense_Mutation_p.Q479*	p.Q516*	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		18	1664	-			516					Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Nonsense_Mutation	SNP	ENST00000356260.5	37	c.1546C>T	CCDS3573.2	.	.	.	.	.	.	.	.	.	.	G	38	7.003746	0.97994	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	.	.	.	5.41	3.7	0.42460	.	0.196145	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-1.5203	10.5163	0.44892	0.1427:0.0:0.8573:0.0	.	.	.	.	X	516;479	.	ENSP00000348596:Q516X	Q	-	1	0	SDAD1	77098056	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	3.942000	0.56614	0.683000	0.31428	0.555000	0.69702	CAA		0.413	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		44	152	0	0	0	1	0	44	152				
RASGEF1C	255426	broad.mit.edu	37	5	179564678	179564678	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr5:179564678C>T	ENST00000393371.2	-	2	508	c.212G>A	c.(211-213)cGc>cAc	p.R71H	RASGEF1C_ENST00000522500.1_5'Flank|RASGEF1C_ENST00000519883.1_5'Flank|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.R71H			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	71	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGAAGAGGCGAGAGCTCAG	0.642																																						ENST00000393371.2																			0				breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12						c.(211-213)cGc>cAc		RasGEF domain family, member 1C							44.0	40.0	41.0					5																	179564678		2202	4300	6502	SO:0001583	missense	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179564678C>T	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.212G>A	5.37:g.179564678C>T	ENSP00000377037:p.Arg71His					RASGEF1C_ENST00000361132.4_Missense_Mutation_p.R71H	p.R71H			Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	508	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	71			N-terminal Ras-GEF.		D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	ENST00000393371.2	37	c.212G>A	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736379	0.89482	.	.	ENSG00000146090	ENST00000361132;ENST00000393371	T;T	0.42513	0.97;0.97	4.05	4.05	0.47172	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77915	-0.2409	10	0.62326	D	0.03	.	15.1598	0.72775	0.0:1.0:0.0:0.0	.	71	Q8N431	RGF1C_HUMAN	H	71	ENSP00000354963:R71H;ENSP00000377037:R71H	ENSP00000354963:R71H	R	-	2	0	RASGEF1C	179497284	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.336000	0.65935	1.996000	0.58369	0.511000	0.50034	CGC		0.642	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		14	19	0	0	0	1	0	14	19				
GDI2	2665	broad.mit.edu	37	10	5808504	5808504	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr10:5808504C>G	ENST00000380191.4	-	9	1379	c.1089G>C	c.(1087-1089)gaG>gaC	p.E363D	GDI2_ENST00000380132.4_Missense_Mutation_p.E367D|GDI2_ENST00000380181.3_Missense_Mutation_p.E318D|GDI2_ENST00000479928.1_5'UTR	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	363					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						TGATTTCCTTCTCAGGCTCCT	0.433																																						ENST00000380191.4																			0				NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						c.(1087-1089)gaG>gaC		GDP dissociation inhibitor 2							117.0	110.0	113.0					10																	5808504		2203	4300	6503	SO:0001583	missense	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5808504C>G	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.1089G>C	10.37:g.5808504C>G	ENSP00000369538:p.Glu363Asp					GDI2_ENST00000380132.4_Missense_Mutation_p.E367D|GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380181.3_Missense_Mutation_p.E318D	p.E363D	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN			9	1379	-			363					O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	ENST00000380191.4	37	c.1089G>C	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838431	0.51057	.	.	ENSG00000057608	ENST00000380191;ENST00000380132;ENST00000380181	D;D;D	0.86432	-2.12;-2.12;-2.12	5.83	4.0	0.46444	.	0.000000	0.85682	D	0.000000	D	0.89646	0.6775	M	0.82323	2.585	0.80722	D	1	B;B;B	0.32800	0.008;0.385;0.008	B;B;B	0.41764	0.051;0.366;0.051	D	0.88015	0.2765	10	0.51188	T	0.08	0.5026	12.3809	0.55305	0.0:0.8628:0.0:0.1372	.	367;318;363	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	D	363;367;318	ENSP00000369538:E363D;ENSP00000369475:E367D;ENSP00000369528:E318D	ENSP00000369475:E367D	E	-	3	2	GDI2	5848510	1.000000	0.71417	0.997000	0.53966	0.886000	0.51366	3.298000	0.51818	0.826000	0.34661	-0.143000	0.13931	GAG		0.433	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		31	42	0	0	0	1	0	31	42				
HGF	3082	broad.mit.edu	37	7	81388012	81388012	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:81388012G>T	ENST00000222390.5	-	3	589	c.363C>A	c.(361-363)aaC>aaA	p.N121K	HGF_ENST00000453018.1_Missense_Mutation_p.N18K|HGF_ENST00000444829.2_Missense_Mutation_p.N121K|HGF_ENST00000457544.2_Missense_Mutation_p.N121K|HGF_ENST00000453411.1_Missense_Mutation_p.N121K|HGF_ENST00000354224.6_Missense_Mutation_p.N121K|HGF_ENST00000423064.2_Missense_Mutation_p.N121K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	121	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AGTTACCTTTGTTTTCATAGA	0.338																																						ENST00000222390.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(361-363)aaC>aaA		hepatocyte growth factor (hepapoietin A; scatter factor)							92.0	91.0	92.0					7																	81388012		2203	4299	6502	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81388012G>T		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.363C>A	7.37:g.81388012G>T	ENSP00000222390:p.Asn121Lys					HGF_ENST00000423064.2_Missense_Mutation_p.N121K|HGF_ENST00000354224.6_Missense_Mutation_p.N121K|HGF_ENST00000453411.1_Missense_Mutation_p.N121K|HGF_ENST00000453018.1_Missense_Mutation_p.N18K|HGF_ENST00000457544.2_Missense_Mutation_p.N121K|HGF_ENST00000444829.2_Missense_Mutation_p.N121K	p.N121K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN			3	589	-			121			PAN.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.363C>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	4.093	0.015251	0.07959	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000453018;ENST00000412881	T;T;T;T;T;T;T;T	0.61392	0.18;0.18;0.18;0.18;0.18;0.18;0.11;0.18	5.16	3.18	0.36537	PAN-1 domain (1);Apple-like (2);Kringle-like fold (1);	0.093825	0.64402	N	0.000001	T	0.22781	0.0550	N	0.01454	-0.855	0.38080	D	0.936637	B;B;B;B;B	0.28933	0.035;0.093;0.039;0.228;0.144	B;B;B;B;B	0.29353	0.021;0.034;0.026;0.091;0.101	T	0.33523	-0.9865	10	0.02654	T	1	.	8.7558	0.34645	0.0:0.3752:0.4981:0.1267	.	156;121;121;121;121	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	K	121;121;121;121;121;121;121;18;121	ENSP00000222390:N121K;ENSP00000391238:N121K;ENSP00000389854:N121K;ENSP00000408270:N121K;ENSP00000413829:N121K;ENSP00000346164:N121K;ENSP00000395468:N18K;ENSP00000396307:N121K	ENSP00000222390:N121K	N	-	3	2	HGF	81225948	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.042000	0.30303	1.130000	0.42092	0.467000	0.42956	AAC		0.338	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		18	23	1	0	2.94398e-08	1	3.24036e-08	18	23				
FAAH	2166	broad.mit.edu	37	1	46877317	46877317	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:46877317G>T	ENST00000243167.8	+	12	1434	c.1350G>T	c.(1348-1350)gaG>gaT	p.E450D		NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	450					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	TGCAGCACGAGATCGAGGTGA	0.617																																						ENST00000243167.8																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22						c.(1348-1350)gaG>gaT		fatty acid amide hydrolase	Propofol(DB00818)|Thiopental(DB00599)						61.0	58.0	59.0					1																	46877317		2203	4300	6503	SO:0001583	missense	2166				fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	g.chr1:46877317G>T	U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.1350G>T	1.37:g.46877317G>T	ENSP00000243167:p.Glu450Asp						p.E450D	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN			12	1434	+	Acute lymphoblastic leukemia(166;0.155)		450					D3DQ19|Q52M86|Q5TDF8	Missense_Mutation	SNP	ENST00000243167.8	37	c.1350G>T	CCDS535.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806182	0.31961	.	.	ENSG00000117480	ENST00000243167	T	0.54279	0.58	5.41	3.54	0.40534	Amidase signature domain (2);	0.667620	0.15320	N	0.268613	T	0.40247	0.1109	L	0.36672	1.1	0.23616	N	0.997284	B	0.06786	0.001	B	0.08055	0.003	T	0.25882	-1.0119	10	0.37606	T	0.19	-29.4027	8.2432	0.31673	0.1838:0.0:0.8162:0.0	.	450	O00519	FAAH1_HUMAN	D	450	ENSP00000243167:E450D	ENSP00000243167:E450D	E	+	3	2	FAAH	46649904	0.998000	0.40836	0.071000	0.20095	0.729000	0.41735	0.997000	0.29731	0.664000	0.31047	0.655000	0.94253	GAG		0.617	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441		4	28	1	0	0.150653	1	0.150653	4	28				
COL19A1	1310	broad.mit.edu	37	6	70866118	70866118	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr6:70866118C>T	ENST00000322773.4	+	32	2281	c.2179C>T	c.(2179-2181)Cgg>Tgg	p.R727W	COL19A1_ENST00000393344.1_Missense_Mutation_p.R349W	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	727	Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTCCATGGCCCGGAAGGTGAG	0.502																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(2179-2181)Cgg>Tgg		collagen, type XIX, alpha 1							174.0	145.0	155.0					6																	70866118		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70866118C>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2179C>T	6.37:g.70866118C>T	ENSP00000316030:p.Arg727Trp					COL19A1_ENST00000393344.1_Missense_Mutation_p.R349W	p.R727W	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			32	2281	+			727			Triple-helical region 4 (COL4).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.2179C>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658589	0.29515	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.93763	-3.28;-3.28	5.41	-0.0136	0.13983	.	1.133430	0.06605	N	0.754552	D	0.89403	0.6705	L	0.56769	1.78	0.09310	N	1	D	0.60575	0.988	P	0.51266	0.664	T	0.80410	-0.1394	10	0.59425	D	0.04	.	8.0985	0.30844	0.5571:0.2963:0.1467:0.0	.	727	Q14993	COJA1_HUMAN	W	727;349	ENSP00000316030:R727W;ENSP00000377013:R349W	ENSP00000316030:R727W	R	+	1	2	COL19A1	70922839	0.000000	0.05858	0.054000	0.19295	0.002000	0.02628	0.169000	0.16641	0.209000	0.20645	-0.309000	0.09137	CGG		0.502	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			15	46	0	0	0	1	0	15	46				
TENM4	26011	broad.mit.edu	37	11	78369841	78369841	+	Silent	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:78369841A>G	ENST00000278550.7	-	34	8034	c.7572T>C	c.(7570-7572)tgT>tgC	p.C2524C		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2524					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TCTGTACTTCACACTGTACCC	0.493																																						ENST00000278550.7																			0											c.(7570-7572)tgT>tgC		teneurin transmembrane protein 4							78.0	80.0	79.0					11																	78369841		1952	4149	6101	SO:0001819	synonymous_variant	26011							g.chr11:78369841A>G	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7572T>C	11.37:g.78369841A>G							p.C2524C	NM_001098816.2	NP_001092286.2					34	8034	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.7572T>C	CCDS44688.1																																																																																				0.493	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			4	85	0	0	0	1	0	4	85				
YWHAG	7532	broad.mit.edu	37	7	75959452	75959452	+	Silent	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:75959452G>T	ENST00000307630.3	-	2	408	c.186C>A	c.(184-186)gtC>gtA	p.V62V		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma	62					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of neuron differentiation (GO:0045664)|regulation of signal transduction (GO:0009966)|regulation of synaptic plasticity (GO:0048167)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	insulin-like growth factor receptor binding (GO:0005159)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						TGCTACTGATGACCCTCCAGG	0.532																																						ENST00000307630.3																			0				endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(184-186)gtC>gtA		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide							150.0	128.0	135.0					7																	75959452		2203	4300	6503	SO:0001819	synonymous_variant	7532				G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity	g.chr7:75959452G>T	AF142498	CCDS5584.1	7q11.23	2014-06-13	2013-12-03		ENSG00000170027	ENSG00000170027			12852	protein-coding gene	gene with protein product	"""14-3-3 gamma"", ""protein phosphatase 1, regulatory subunit 170"""	605356	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide"""			10486217, 10433554	Standard	NM_012479		Approved	PPP1R170	uc011kgj.1	P61981	OTTHUMG00000022862	ENST00000307630.3:c.186C>A	7.37:g.75959452G>T							p.V62V	NM_012479.3	NP_036611.2	P61981	1433G_HUMAN			2	408	-			62					O70457|P35214|Q6FH52|Q9UDP2|Q9UN99	Silent	SNP	ENST00000307630.3	37	c.186C>A	CCDS5584.1																																																																																				0.532	YWHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253002.1	NM_012479		23	119	1	0	8.04996e-18	1	9.29713e-18	23	119				
TAPT1-AS1	202020	broad.mit.edu	37	4	16258143	16258143	+	RNA	SNP	T	T	G	rs112702106		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr4:16258143T>G	ENST00000570786.1	+	0	498				TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA	NR_027696.1				TAPT1 antisense RNA 1 (head to head)																		TCCGCGGAACTTACAGGTCCA	0.607																																						ENST00000570786.1																			0																																																			202020							g.chr4:16258143T>G			4p15.32	2012-11-06	2012-11-06		ENSG00000263327	ENSG00000263327		"""Long non-coding RNAs"""	26832	non-coding RNA	RNA, long non-coding							Standard	NR_027696		Approved	FLJ39653			OTTHUMG00000160321		4.37:g.16258143T>G						TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA		NR_027696.1						0	498	+									RNA	SNP	ENST00000570786.1	37																																																																																						0.607	TAPT1-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000439459.1	NR_027696		4	12	0	0	0	1	0	4	12				
MAGEC1	9947	broad.mit.edu	37	X	140994009	140994009	+	Silent	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chrX:140994009C>T	ENST00000285879.4	+	4	1105	c.819C>T	c.(817-819)agC>agT	p.S273S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	273										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCCCCTCCTTCT	0.488										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(817-819)agC>agT		melanoma antigen family C, 1							87.0	73.0	78.0					X																	140994009		2131	3948	6079	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994009C>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.819C>T	X.37:g.140994009C>T		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.S273S	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1105	+	Acute lymphoblastic leukemia(192;6.56e-05)		273					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.819C>T	CCDS35417.1																																																																																				0.488	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		71	32	0	0	0	1	0	71	32				
MED25	81857	broad.mit.edu	37	19	50322477	50322477	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:50322477G>A	ENST00000312865.6	+	3	282	c.229G>A	c.(229-231)Gct>Act	p.A77T	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	77	Interaction with the Mediator complex.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		AGTGGACTGCGCTCCCGAGTC	0.552																																					GBM(51;894 1657 37868)	ENST00000312865.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17						c.(229-231)Gct>Act		mediator complex subunit 25							107.0	88.0	95.0					19																	50322477		2203	4300	6503	SO:0001583	missense	81857				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50322477G>A	AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.229G>A	19.37:g.50322477G>A	ENSP00000326767:p.Ala77Thr					MED25_ENST00000538643.1_Intron	p.A77T	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	3	282	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	77			Interaction with the Mediator complex.		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	ENST00000312865.6	37	c.229G>A	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559685	0.86335	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000542221;ENST00000544580	T	0.78595	-1.19	5.4	3.28	0.37604	.	0.059695	0.64402	D	0.000004	T	0.67126	0.2860	L	0.42245	1.32	0.80722	D	1	B	0.28178	0.202	B	0.21360	0.034	T	0.61297	-0.7091	10	0.31617	T	0.26	.	11.2545	0.49045	0.1519:0.0:0.8481:0.0	.	77	Q71SY5	MED25_HUMAN	T	77	ENSP00000326767:A77T	ENSP00000326767:A77T	A	+	1	0	MED25	55014289	1.000000	0.71417	0.854000	0.33618	0.799000	0.45148	8.690000	0.91272	0.778000	0.33520	-0.136000	0.14681	GCT		0.552	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		23	41	0	0	0	1	0	23	41				
CSPG4	1464	broad.mit.edu	37	15	75982528	75982528	+	Missense_Mutation	SNP	G	G	A	rs201435408		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr15:75982528G>A	ENST00000308508.5	-	3	970	c.878C>T	c.(877-879)gCt>gTt	p.A293V		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	293	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CAGCCGGTGAGCATTGATGTG	0.622																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(877-879)gCt>gTt		chondroitin sulfate proteoglycan 4		G	VAL/ALA	0,4394		0,0,2197	61.0	49.0	53.0		878	-1.2	0.0	15		53	2,8582		0,2,4290	no	missense	CSPG4	NM_001897.4	64	0,2,6487	AA,AG,GG		0.0233,0.0,0.0154	benign	293/2323	75982528	2,12976	2197	4292	6489	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75982528G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.878C>T	15.37:g.75982528G>A	ENSP00000312506:p.Ala293Val						p.A293V	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	970	-			293			Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.878C>T	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	0.868	-0.732992	0.03135	0.0	2.33E-4	ENSG00000173546	ENST00000308508	T	0.78364	-1.17	5.26	-1.21	0.09524	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.258290	0.05305	N	0.523783	T	0.49712	0.1573	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34254	-0.9836	10	0.21014	T	0.42	.	6.3576	0.21410	0.5238:0.1294:0.3468:0.0	.	293	Q6UVK1	CSPG4_HUMAN	V	293	ENSP00000312506:A293V	ENSP00000312506:A293V	A	-	2	0	CSPG4	73769583	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.058000	0.14301	-0.121000	0.11787	0.555000	0.69702	GCT		0.622	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		9	41	0	0	0	1	0	9	41				
PSKH2	85481	broad.mit.edu	37	8	87076416	87076416	+	Silent	SNP	G	G	A	rs376242267		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr8:87076416G>A	ENST00000276616.2	-	2	704	c.630C>T	c.(628-630)tcC>tcT	p.S210S	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	210	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TTTTTTTCCCGGAGTATGCCA	0.423																																						ENST00000276616.2																			0				NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47						c.(628-630)tcC>tcT		protein serine kinase H2		G		1,4405	2.1+/-5.4	0,1,2202	72.0	76.0	75.0		630	-1.9	1.0	8		75	0,8600		0,0,4300	no	coding-synonymous	PSKH2	NM_033126.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		210/386	87076416	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85481						ATP binding|protein serine/threonine kinase activity	g.chr8:87076416G>A	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.630C>T	8.37:g.87076416G>A						PSKH2_ENST00000517981.1_5'UTR	p.S210S	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	STAD - Stomach adenocarcinoma(118;0.129)		2	704	-			210			Protein kinase.		A0AV22	Silent	SNP	ENST00000276616.2	37	c.630C>T	CCDS6240.1																																																																																				0.423	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		14	26	0	0	0	1	0	14	26				
USP33	23032	broad.mit.edu	37	1	78180383	78180383	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:78180383T>C	ENST00000370793.1	-	20	2570	c.2224A>G	c.(2224-2226)Att>Gtt	p.I742V	USP33_ENST00000370794.3_Missense_Mutation_p.I711V|USP33_ENST00000357428.1_Missense_Mutation_p.I742V|USP33_ENST00000370792.3_Missense_Mutation_p.I734V	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	742	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TGTCGAGAAATATAAAACTGA	0.373																																					Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						c.(2224-2226)Att>Gtt		ubiquitin specific peptidase 33							136.0	128.0	131.0					1																	78180383		2203	4300	6503	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78180383T>C	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2224A>G	1.37:g.78180383T>C	ENSP00000359829:p.Ile742Val					USP33_ENST00000370794.3_Missense_Mutation_p.I711V|USP33_ENST00000370792.3_Missense_Mutation_p.I734V|USP33_ENST00000357428.1_Missense_Mutation_p.I742V	p.I742V	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN			20	2570	-			742			DUSP 1.		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.2224A>G	CCDS678.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.230|7.230	0.599151|0.599151	0.13939|0.13939	.|.	.|.	ENSG00000077254|ENSG00000077254	ENST00000481579|ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	.|T;T;T;T	.|0.12672	.|2.69;2.66;2.66;2.7	5.21|5.21	4.09|4.09	0.47781|0.47781	.|Peptidase C19, ubiquitin-specific peptidase, DUSP domain (2);	0.282235|0.282235	0.38663|0.38663	N|N	0.001617|0.001617	T|T	0.02342|0.02342	0.0072|0.0072	N|N	0.17838|0.17838	0.53|0.53	0.47308|0.47308	D|D	0.99938|0.99938	.|B;B;B;B	.|0.13594	.|0.008;0.002;0.002;0.0	.|B;B;B;B	.|0.15484	.|0.013;0.008;0.006;0.013	T|T	0.32241|0.32241	-0.9914|-0.9914	6|10	.|0.08179	.|T	.|0.78	.|.	9.0081|9.0081	0.36124|0.36124	0.0:0.1635:0.0:0.8365|0.0:0.1635:0.0:0.8365	.|.	.|734;711;742;76	.|Q8TEY7-3;Q8TEY7-2;Q8TEY7;Q9Y417	.|.;.;UBP33_HUMAN;.	M|V	346|711;742;742;734	.|ENSP00000359830:I711V;ENSP00000359829:I742V;ENSP00000350009:I742V;ENSP00000359828:I734V	.|ENSP00000350009:I742V	I|I	-|-	3|1	3|0	USP33|USP33	77952971|77952971	0.995000|0.995000	0.38212|0.38212	0.996000|0.996000	0.52242|0.52242	0.991000|0.991000	0.79684|0.79684	0.646000|0.646000	0.24797|0.24797	0.926000|0.926000	0.37118|0.37118	-0.256000|-0.256000	0.11100|0.11100	ATA|ATT		0.373	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		5	55	0	0	0	1	0	5	55				
C2orf71	388939	broad.mit.edu	37	2	29296729	29296729	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:29296729C>A	ENST00000331664.5	-	1	398	c.399G>T	c.(397-399)gaG>gaT	p.E133D		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	133					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTTCCTCACTCTCATCTCCAG	0.478																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(397-399)gaG>gaT		chromosome 2 open reading frame 71							244.0	233.0	237.0					2																	29296729		2038	4198	6236	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29296729C>A		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.399G>T	2.37:g.29296729C>A	ENSP00000332809:p.Glu133Asp						p.E133D	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	398	-			133						Missense_Mutation	SNP	ENST00000331664.5	37	c.399G>T	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	C	9.110	1.006358	0.19199	.	.	ENSG00000179270	ENST00000331664	T	0.23754	1.89	5.52	1.42	0.22433	.	0.556470	0.17441	N	0.174103	T	0.23289	0.0563	M	0.64997	1.995	0.09310	N	1	B	0.17268	0.021	B	0.19946	0.027	T	0.17684	-1.0361	10	0.38643	T	0.18	-3.123	6.6859	0.23144	0.1783:0.3616:0.3949:0.0652	.	133	A6NGG8	CB071_HUMAN	D	133	ENSP00000332809:E133D	ENSP00000332809:E133D	E	-	3	2	C2orf71	29150233	0.000000	0.05858	0.061000	0.19648	0.039000	0.13416	-0.759000	0.04761	0.664000	0.31047	0.561000	0.74099	GAG		0.478	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		34	50	1	0	3.33393e-15	1	3.82353e-15	34	50				
IGHA2	3494	broad.mit.edu	37	14	106054663	106054663	+	RNA	SNP	C	C	T	rs573891576	byFrequency	TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr14:106054663C>T	ENST00000390539.2	-	0	69				AL928742.1_ENST00000581377.1_RNA|AL928742.2_ENST00000578042.1_RNA			P01877	IGHA2_HUMAN	immunoglobulin heavy constant alpha 2 (A2m marker)						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										AGGCATGCGACGACCACGTTC	0.632													.|||	2	0.000399361	0.0	0.0014	5008	,	,		19233	0.0		0.0	False		,,,				2504	0.001					ENST00000390539.2																			0																				67.0	75.0	72.0					14																	106054663		2085	4203	6288			3494							g.chr14:106054663C>T	J00221		14q32.33	2012-10-02			ENSG00000211890	ENSG00000211890		"""Immunoglobulins / IGH locus"""	5479	other	immunoglobulin gene		147000					Standard	NG_001019		Approved			P01877	OTTHUMG00000152472		14.37:g.106054663C>T														0	69	-									RNA	SNP	ENST00000390539.2	37																																																																																						0.632	IGHA2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326338.1	NG_001019		5	102	0	0	0	1	0	5	102				
NOTCH1	4851	broad.mit.edu	37	9	139417630	139417630	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr9:139417630G>T	ENST00000277541.6	-	4	489	c.414C>A	c.(412-414)tgC>tgA	p.C138*	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	138	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGCCTGCTGGCACGATTTCC	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(412-414)tgC>tgA		notch 1							15.0	20.0	19.0					9																	139417630		2085	4194	6279	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139417630G>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.414C>A	9.37:g.139417630G>T	ENSP00000277541:p.Cys138*	HNSCC(8;0.001)				NOTCH1_ENST00000491649.1_5'UTR	p.C138*	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	4	489	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	138			EGF-like 3.		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.414C>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	35	5.555956	0.96514	.	.	ENSG00000148400	ENST00000277541	.	.	.	5.17	2.89	0.33648	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5248	0.33298	0.2266:0.0:0.7734:0.0	.	.	.	.	X	138	.	ENSP00000277541:C138X	C	-	3	2	NOTCH1	138537451	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	3.309000	0.51903	0.828000	0.34709	0.561000	0.74099	TGC		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		13	3	1	0	1.05317e-09	1	1.17497e-09	13	3				
CILP2	148113	broad.mit.edu	37	19	19655470	19655470	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:19655470C>T	ENST00000291495.5	+	8	2201	c.2116C>T	c.(2116-2118)Cgg>Tgg	p.R706W	CILP2_ENST00000586018.1_Missense_Mutation_p.R712W	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	706						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CTCGGGCCCCCGGGTGCGCCG	0.716																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(2134-2136)Cgg>Tgg		cartilage intermediate layer protein 2							5.0	6.0	6.0					19																	19655470		2027	4040	6067	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655470C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2116C>T	19.37:g.19655470C>T	ENSP00000291495:p.Arg706Trp					CILP2_ENST00000291495.4_Missense_Mutation_p.R706W	p.R712W			Q8IUL8	CILP2_HUMAN			8	2236	+			706					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.2134C>T	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764805	0.31228	.	.	ENSG00000160161	ENST00000291495	T	0.51817	0.69	4.67	2.37	0.29283	.	0.000000	0.85682	D	0.000000	T	0.60183	0.2249	M	0.61703	1.905	0.23510	N	0.997529	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.47302	-0.9128	10	0.87932	D	0	-31.8955	7.5547	0.27817	0.3309:0.5082:0.1609:0.0	.	706;706	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	W	706	ENSP00000291495:R706W	ENSP00000291495:R706W	R	+	1	2	CILP2	19516470	0.030000	0.19436	0.033000	0.17914	0.260000	0.26232	0.394000	0.20834	0.935000	0.37341	0.555000	0.69702	CGG		0.716	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		4	14	0	0	0	1	0	4	14				
RUNX1T1	862	broad.mit.edu	37	8	92999149	92999149	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr8:92999149C>T	ENST00000523629.1	-	8	1497	c.1043G>A	c.(1042-1044)aGa>aAa	p.R348K	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R311K|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R311K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R321K|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R321K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R311K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R348K|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R359K	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	348	Important for oligomerization.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGCCCATTCTCTGTCTGTTAG	0.388																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1042-1044)aGa>aAa		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							268.0	234.0	245.0					8																	92999149		2202	4300	6502	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92999149C>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1043G>A	8.37:g.92999149C>T	ENSP00000428543:p.Arg348Lys					RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R359K|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R311K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R321K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R311K|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R311K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R348K|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R321K	p.R348K	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		8	1497	-			348			Important for oligomerization.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1043G>A	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	34	5.406188	0.96051	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.29	5.29	0.74685	NHR2-like (1);	0.000000	0.85682	D	0.000000	T	0.66137	0.2759	L	0.60455	1.87	0.80722	D	1	P;D;P	0.65815	0.945;0.995;0.591	P;D;P	0.69654	0.468;0.965;0.57	T	0.67086	-0.5759	10	0.56958	D	0.05	-12.9643	18.9681	0.92704	0.0:1.0:0.0:0.0	.	359;348;321	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	K	348;321;348;311;311;311;359;321	ENSP00000428543:R348K;ENSP00000379520:R321K;ENSP00000265814:R348K;ENSP00000353504:R311K;ENSP00000390137:R311K;ENSP00000428742:R311K;ENSP00000402257:R359K;ENSP00000430728:R321K	ENSP00000265814:R348K	R	-	2	0	RUNX1T1	93068325	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.489000	0.83994	0.655000	0.94253	AGA		0.388	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		10	142	0	0	0	1	0	10	142				
NWD1	284434	broad.mit.edu	37	19	16860198	16860198	+	Missense_Mutation	SNP	G	G	A	rs202142885		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:16860198G>A	ENST00000552788.1	+	4	745	c.745G>A	c.(745-747)Gac>Aac	p.D249N	NWD1_ENST00000523826.1_Missense_Mutation_p.D43N|NWD1_ENST00000339803.6_Missense_Mutation_p.D114N|NWD1_ENST00000379808.3_Missense_Mutation_p.D249N|NWD1_ENST00000524140.2_Missense_Mutation_p.D249N|NWD1_ENST00000549814.1_Missense_Mutation_p.D249N			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	249							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTGGAGCCGCGACTTGGTGAA	0.602																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(745-747)Gac>Aac		NACHT and WD repeat domain containing 1		G	ASN/ASP	0,4406		0,0,2203	50.0	48.0	48.0		745	4.3	1.0	19		48	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NWD1	NM_001007525.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	249/1433	16860198	1,13005	2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16860198G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.745G>A	19.37:g.16860198G>A	ENSP00000447224:p.Asp249Asn					NWD1_ENST00000523826.1_Missense_Mutation_p.D43N|NWD1_ENST00000379808.3_Missense_Mutation_p.D249N|NWD1_ENST00000339803.6_Missense_Mutation_p.D114N|NWD1_ENST00000552788.1_Missense_Mutation_p.D249N|NWD1_ENST00000549814.1_Missense_Mutation_p.D249N	p.D249N	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			6	1163	+			249					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.745G>A		.	.	.	.	.	.	.	.	.	.	g	14.25	2.478600	0.44044	0.0	1.16E-4	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.56941	0.45;0.51;0.45;0.43;0.5;0.52	4.35	4.35	0.52113	.	0.130983	0.53938	D	0.000056	T	0.59715	0.2214	L	0.29908	0.895	0.42344	D	0.992345	D;D;D	0.89917	0.997;1.0;1.0	P;D;D	0.83275	0.727;0.996;0.996	T	0.62872	-0.6762	10	0.56958	D	0.05	-34.5619	12.6914	0.56976	0.0:0.0:1.0:0.0	.	249;249;114	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	N	114;249;249;249;43;249;114	ENSP00000428579:D249N;ENSP00000447548:D249N;ENSP00000369136:D249N;ENSP00000428955:D43N;ENSP00000447224:D249N;ENSP00000340159:D114N	ENSP00000340159:D114N	D	+	1	0	NWD1	16721198	1.000000	0.71417	0.954000	0.39281	0.073000	0.16967	4.180000	0.58296	2.139000	0.66308	0.637000	0.83480	GAC		0.602	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		4	77	0	0	0	1	0	4	77				
SLAIN2	57606	broad.mit.edu	37	4	48381711	48381711	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr4:48381711C>G	ENST00000264313.6	+	4	1126	c.708C>G	c.(706-708)aaC>aaG	p.N236K	SLAIN2_ENST00000506375.1_3'UTR|SLAIN2_ENST00000512093.1_Missense_Mutation_p.N43K	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	236					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TTTAAGGTAACTTGAAAAGCT	0.318																																						ENST00000264313.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						c.(706-708)aaC>aaG		SLAIN motif family, member 2							58.0	55.0	56.0					4																	48381711		1792	4067	5859	SO:0001583	missense	57606					centrosome		g.chr4:48381711C>G	BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"""KIAA1458"""	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.708C>G	4.37:g.48381711C>G	ENSP00000264313:p.Asn236Lys					SLAIN2_ENST00000506375.1_3'UTR|SLAIN2_ENST00000512093.1_Missense_Mutation_p.N43K	p.N236K	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN			4	1126	+			236					A8K4P1|Q8N5R3	Missense_Mutation	SNP	ENST00000264313.6	37	c.708C>G	CCDS47051.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838168	0.32513	.	.	ENSG00000109171	ENST00000264313;ENST00000512093	.	.	.	5.91	3.78	0.43462	.	0.053822	0.64402	D	0.000001	T	0.21103	0.0508	N	0.03608	-0.345	0.80722	D	1	P	0.36535	0.557	B	0.36845	0.234	T	0.04115	-1.0976	9	0.21540	T	0.41	-12.4653	6.487	0.22095	0.0:0.2615:0.0:0.7385	.	236	Q9P270	SLAI2_HUMAN	K	236;43	.	ENSP00000264313:N236K	N	+	3	2	SLAIN2	48076468	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.296000	0.33389	0.646000	0.30693	-0.384000	0.06662	AAC		0.318	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365807.4	NM_020846		14	19	0	0	0	1	0	14	19				
DYNC2LI1	51626	broad.mit.edu	37	2	44028815	44028815	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:44028815A>G	ENST00000260605.8	+	10	869	c.769A>G	c.(769-771)Atc>Gtc	p.I257V	DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.I258V|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.I131V	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	257					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACCGCTGTTTATCACAGCAGG	0.348																																						ENST00000260605.8																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26						c.(769-771)Atc>Gtc		dynein, cytoplasmic 2, light intermediate chain 1							111.0	107.0	109.0					2																	44028815		2203	4300	6503	SO:0001583	missense	51626					apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	g.chr2:44028815A>G		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.769A>G	2.37:g.44028815A>G	ENSP00000260605:p.Ile257Val					DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.I131V|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.I258V	p.I257V	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN			10	869	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	257					A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	ENST00000260605.8	37	c.769A>G	CCDS1813.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.093352	0.36952	.	.	ENSG00000138036	ENST00000260605;ENST00000443170	T;T	0.11495	2.77;2.77	5.38	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.08133	0.0203	L	0.31207	0.915	0.50313	D	0.99986	P;P;P	0.38473	0.633;0.5;0.633	B;B;B	0.38842	0.283;0.147;0.283	T	0.24799	-1.0150	10	0.10111	T	0.7	-6.6834	11.4549	0.50176	0.9299:0.0:0.0701:0.0	.	258;257;257	Q8TCX1-2;Q8TCX1;Q8TCX1-3	.;DC2L1_HUMAN;.	V	257;131	ENSP00000260605:I257V;ENSP00000388941:I131V	ENSP00000260605:I257V	I	+	1	0	DYNC2LI1	43882319	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.226000	0.65299	1.051000	0.40369	0.533000	0.62120	ATC		0.348	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008		4	18	0	0	0	1	0	4	18				
ATRN	8455	broad.mit.edu	37	20	3584812	3584812	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr20:3584812A>G	ENST00000262919.5	+	24	3772	c.3704A>G	c.(3703-3705)aAa>aGa	p.K1235R	ATRN_ENST00000446916.2_Missense_Mutation_p.K1235R	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1235					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AAGGAGTACAAAGATAGTTTC	0.363																																						ENST00000262919.5																			0				breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(3703-3705)aAa>aGa		attractin							98.0	95.0	96.0					20																	3584812		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3584812A>G	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.3704A>G	20.37:g.3584812A>G	ENSP00000262919:p.Lys1235Arg					ATRN_ENST00000446916.2_Missense_Mutation_p.K1235R	p.K1235R	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN			24	3772	+			1235					A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.3704A>G	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.866069	0.32977	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.42513	0.97;0.97	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.36635	0.0974	N	0.03268	-0.37	0.80722	D	1	B;D	0.71674	0.219;0.998	B;D	0.80764	0.13;0.994	T	0.29701	-1.0003	10	0.02654	T	1	-16.6173	15.7357	0.77842	1.0:0.0:0.0:0.0	.	1235;1235	O75882;O75882-2	ATRN_HUMAN;.	R	1235;1235;1161	ENSP00000262919:K1235R;ENSP00000416587:K1235R	ENSP00000262919:K1235R	K	+	2	0	ATRN	3532812	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.225000	0.72271	2.204000	0.70986	0.482000	0.46254	AAA		0.363	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		12	17	0	0	0	1	0	12	17				
C11orf16	56673	broad.mit.edu	37	11	8942974	8942974	+	Silent	SNP	C	C	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:8942974C>G	ENST00000326053.5	-	6	1399	c.1293G>C	c.(1291-1293)ctG>ctC	p.L431L	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	431										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CTTTCGAGACCAGCTCCTTGG	0.498																																						ENST00000326053.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(1291-1293)ctG>ctC		chromosome 11 open reading frame 16							169.0	148.0	155.0					11																	8942974		2201	4296	6497	SO:0001819	synonymous_variant	56673							g.chr11:8942974C>G	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.1293G>C	11.37:g.8942974C>G						C11orf16_ENST00000525780.1_Intron	p.L431L	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	6	1399	-			431					Q53FB2|Q8N6Y9	Silent	SNP	ENST00000326053.5	37	c.1293G>C	CCDS7794.1																																																																																				0.498	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		35	45	0	0	0	1	0	35	45				
OMG	4974	broad.mit.edu	37	17	29622180	29622180	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:29622180G>T	ENST00000247271.4	-	2	1431	c.1170C>A	c.(1168-1170)ttC>ttA	p.F390L	NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	390					cell adhesion (GO:0007155)|negative regulation of axonogenesis (GO:0050771)|neuron projection regeneration (GO:0031102)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|regulation of collateral sprouting of intact axon in response to injury (GO:0048683)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		GCATTTCAGAGAAATTATTTG	0.428																																						ENST00000247271.4																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13						c.(1168-1170)ttC>ttA		oligodendrocyte myelin glycoprotein							402.0	364.0	377.0					17																	29622180		2203	4300	6503	SO:0001583	missense	4974				cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		g.chr17:29622180G>T		CCDS11265.1	17q11-q12	2008-07-18			ENSG00000126861	ENSG00000126861			8135	protein-coding gene	gene with protein product		164345				1899288, 2277079	Standard	NM_002544		Approved	OMGP	uc002hgj.3	P23515	OTTHUMG00000132870	ENST00000247271.4:c.1170C>A	17.37:g.29622180G>T	ENSP00000247271:p.Phe390Leu					NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	p.F390L	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)	2	1431	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	390					E1P659	Missense_Mutation	SNP	ENST00000247271.4	37	c.1170C>A	CCDS11265.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421418	0.42918	.	.	ENSG00000126861	ENST00000247271	T	0.70986	-0.53	4.98	4.01	0.46588	.	0.108516	0.41294	D	0.000902	T	0.49133	0.1539	N	0.19112	0.55	0.34953	D	0.751385	B	0.06786	0.001	B	0.04013	0.001	T	0.49153	-0.8969	10	0.18710	T	0.47	-6.8318	5.9481	0.19229	0.1582:0.0:0.688:0.1538	.	390	P23515	OMGP_HUMAN	L	390	ENSP00000247271:F390L	ENSP00000247271:F390L	F	-	3	2	OMG	26646306	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.040000	0.41203	1.225000	0.43566	0.655000	0.94253	TTC		0.428	OMG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256350.2	NM_002544		36	213	1	0	1.836e-18	1	2.15074e-18	36	213				
KIAA0391	9692	broad.mit.edu	37	14	35592829	35592829	+	Silent	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr14:35592829A>G	ENST00000557565.1	+	2	759	c.378A>G	c.(376-378)aaA>aaG	p.K126K	KIAA0391_ENST00000604948.1_Silent_p.K31K|KIAA0391_ENST00000534898.4_Silent_p.K126K|KIAA0391_ENST00000603588.1_Intron|PPP2R3C_ENST00000555644.1_5'Flank|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000603544.1_Silent_p.K126K|KIAA0391_ENST00000321130.10_Silent_p.K126K|KIAA0391_ENST00000250377.7_Silent_p.K31K|PPP2R3C_ENST00000261475.5_5'Flank	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	126					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		AGTGGGATAAACTTAAGGAAG	0.408																																						ENST00000557565.1																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14						c.(376-378)aaA>aaG		KIAA0391							62.0	64.0	63.0					14																	35592829		2203	4300	6503	SO:0001819	synonymous_variant	9692				tRNA processing	mitochondrion		g.chr14:35592829A>G	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.378A>G	14.37:g.35592829A>G						KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000534898.4_Silent_p.K126K|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Silent_p.K31K|KIAA0391_ENST00000603544.1_Silent_p.K126K|KIAA0391_ENST00000321130.10_Silent_p.K126K|KIAA0391_ENST00000250377.7_Silent_p.K31K	p.K126K			O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	2	759	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		126					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Silent	SNP	ENST00000557565.1	37	c.378A>G	CCDS32063.1																																																																																				0.408	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		22	20	0	0	0	1	0	22	20				
PCED1B	91523	broad.mit.edu	37	12	47471911	47471911	+	5'Flank	SNP	C	C	T	rs201958203		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:47471911C>T	ENST00000546455.1	+	0	0				AMIGO2_ENST00000550413.1_Missense_Mutation_p.R292H|AMIGO2_ENST00000429635.1_Missense_Mutation_p.R292H|AMIGO2_ENST00000321382.3_Missense_Mutation_p.R292H|AMIGO2_ENST00000266581.4_Missense_Mutation_p.R292H			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										GCCAAGCGCACGAAAGGAACC	0.507																																						ENST00000266581.4																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(874-876)cGt>cAt		adhesion molecule with Ig-like domain 2		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	135.0	129.0	131.0		875,875	0.5	1.0	12		131	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	AMIGO2	NM_001143668.1,NM_181847.4	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	292/523,292/523	47471911	2,13004	2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47471911C>T	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47471911C>T	Exception_encountered					AMIGO2_ENST00000550413.1_Missense_Mutation_p.R292H|AMIGO2_ENST00000429635.1_Missense_Mutation_p.R292H|AMIGO2_ENST00000321382.3_Missense_Mutation_p.R292H	p.R292H	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN			2	1341	-	Renal(347;0.138)|Lung SC(27;0.192)		292			Ig-like C2-type.		Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.875G>A	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	C	8.402	0.842274	0.16963	0.0	2.33E-4	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	3.97	0.486	0.16836	.	0.872529	0.10176	N	0.706552	T	0.19087	0.0458	N	0.02539	-0.55	0.32267	N	0.569376	B	0.09022	0.002	B	0.04013	0.001	T	0.37079	-0.9721	10	0.13470	T	0.59	-6.171	7.6236	0.28200	0.0:0.336:0.0:0.664	.	292	Q86SJ2	AMGO2_HUMAN	H	292	ENSP00000266581:R292H;ENSP00000449034:R292H;ENSP00000406020:R292H;ENSP00000320848:R292H	ENSP00000266581:R292H	R	-	2	0	AMIGO2	45758178	1.000000	0.71417	0.978000	0.43139	0.978000	0.69477	1.521000	0.35910	0.085000	0.17107	-0.266000	0.10368	CGT		0.507	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		4	106	0	0	0	1	0	4	106				
ATP5L	10632	broad.mit.edu	37	11	118277667	118277667	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:118277667C>G	ENST00000300688.3	+	2	580	c.68C>G	c.(67-69)tCg>tGg	p.S23W	ATP5L_ENST00000529770.1_3'UTR|ATP5L_ENST00000524422.1_Missense_Mutation_p.S23W	NM_006476.4	NP_006467.4	O75964	ATP5L_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G	23					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)	p.S23L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)		GTGACTTACTCGAAGCCTCGA	0.458																																						ENST00000300688.3																			1	Substitution - Missense(1)	p.S23L(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(2)|lung(3)	7						c.(67-69)tCg>tGg		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G							36.0	31.0	32.0					11																	118277667		2200	4296	6496	SO:0001583	missense	10632				ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|protein binding	g.chr11:118277667C>G	AF092124	CCDS8397.1	11q23.3	2012-10-12	2010-06-11		ENSG00000167283	ENSG00000167283		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	14247	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G"""			11230166, 11042152	Standard	NR_033759		Approved	ATP5JG	uc001psx.3	O75964		ENST00000300688.3:c.68C>G	11.37:g.118277667C>G	ENSP00000300688:p.Ser23Trp					ATP5L_ENST00000529770.1_3'UTR|ATP5L_ENST00000524422.1_Missense_Mutation_p.S23W	p.S23W	NM_006476.4	NP_006467.4	O75964	ATP5L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)	2	580	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	23					A8K0K3|Q96BV6|Q9UBZ7	Missense_Mutation	SNP	ENST00000300688.3	37	c.68C>G	CCDS8397.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654505	0.88056	.	.	ENSG00000167283	ENST00000300688;ENST00000524422	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.85669	0.5750	M	0.89353	3.025	0.80722	D	1	D	0.61080	0.989	D	0.77004	0.989	D	0.86912	0.2061	9	0.72032	D	0.01	0.2161	20.0338	0.97549	0.0:1.0:0.0:0.0	.	23	O75964	ATP5L_HUMAN	W	23	.	ENSP00000300688:S23W	S	+	2	0	ATP5L	117782877	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.157000	0.77461	2.836000	0.97738	0.655000	0.94253	TCG		0.458	ATP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389220.1	NM_006476		8	10	0	0	0	1	0	8	10				
URB2	9816	broad.mit.edu	37	1	229771720	229771720	+	Missense_Mutation	SNP	C	C	T	rs115399585		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:229771720C>T	ENST00000258243.2	+	4	1496	c.1360C>T	c.(1360-1362)Cgt>Tgt	p.R454C		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	454						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGCGCTTATTCGTACTGTCTT	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20247	0.0		0.0	False		,,,				2504	0.0					ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(1360-1362)Cgt>Tgt		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							94.0	105.0	101.0					1																	229771720		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229771720C>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1360C>T	1.37:g.229771720C>T	ENSP00000258243:p.Arg454Cys						p.R454C	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	1496	+			454					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.1360C>T	CCDS31052.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.744	0.701973	0.15172	.	.	ENSG00000135763	ENST00000258243	T	0.30448	1.53	5.35	-0.367	0.12541	.	0.643517	0.17707	N	0.164726	T	0.11067	0.0270	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33420	-0.9869	9	.	.	.	-1.2271	8.777	0.34767	0.4933:0.1773:0.3294:0.0	.	454	Q14146	URB2_HUMAN	C	454	ENSP00000258243:R454C	.	R	+	1	0	URB2	227838343	.	.	0.000000	0.03702	0.720000	0.41350	.	.	-0.001000	0.14495	0.650000	0.86243	CGT		0.522	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		50	106	0	0	0	1	0	50	106				
IPO8	10526	broad.mit.edu	37	12	30783830	30783830	+	Silent	SNP	G	G	T	rs377717299		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:30783830G>T	ENST00000256079.4	-	25	3416	c.3078C>A	c.(3076-3078)tcC>tcA	p.S1026S	IPO8_ENST00000544829.1_Silent_p.S821S	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	1026					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AATTAAATGCGGAGAGGACTC	0.413																																						ENST00000256079.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(3076-3078)tcC>tcA		importin 8							108.0	106.0	106.0					12																	30783830		2203	4300	6503	SO:0001819	synonymous_variant	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30783830G>T	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.3078C>A	12.37:g.30783830G>T						IPO8_ENST00000544829.1_Silent_p.S821S	p.S1026S	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			25	3416	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		1026					B7Z7M3	Silent	SNP	ENST00000256079.4	37	c.3078C>A	CCDS8719.1																																																																																				0.413	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		24	41	1	0	2.08973e-25	1	2.46558e-25	24	41				
MEF2C	4208	broad.mit.edu	37	5	88018473	88018473	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr5:88018473C>G	ENST00000437473.2	-	11	1787	c.1370G>C	c.(1369-1371)aGg>aCg	p.R457T	MEF2C_ENST00000340208.5_Missense_Mutation_p.R467T|MEF2C_ENST00000514028.1_Missense_Mutation_p.R457T|MEF2C_ENST00000539796.1_Missense_Mutation_p.R401T|MEF2C_ENST00000424173.2_Missense_Mutation_p.R447T|MEF2C_ENST00000506554.1_3'UTR|MEF2C_ENST00000508569.1_Missense_Mutation_p.R417T|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000504921.2_Missense_Mutation_p.R457T|MEF2C_ENST00000514015.1_Missense_Mutation_p.R425T|MEF2C_ENST00000510942.1_Missense_Mutation_p.R449T	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	457					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		GGGACTTTCCCTTTCGTCCGG	0.493										HNSCC(66;0.2)																												ENST00000504921.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40						c.(1369-1371)aGg>aCg		myocyte enhancer factor 2C							171.0	177.0	175.0					5																	88018473		1963	4149	6112	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88018473C>G	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.1370G>C	5.37:g.88018473C>G	ENSP00000396219:p.Arg457Thr	HNSCC(66;0.2)				MEF2C_ENST00000514015.1_Missense_Mutation_p.R425T|MEF2C_ENST00000424173.2_Missense_Mutation_p.R447T|MEF2C_ENST00000539796.1_Missense_Mutation_p.R401T|MEF2C_ENST00000514028.1_Missense_Mutation_p.R457T|MEF2C_ENST00000510942.1_Missense_Mutation_p.R449T|MEF2C_ENST00000437473.2_Missense_Mutation_p.R457T|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000506554.1_3'UTR|MEF2C_ENST00000340208.5_Missense_Mutation_p.R467T|MEF2C_ENST00000508569.1_Missense_Mutation_p.R417T	p.R457T			Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	10	2042	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	457					C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.1370G>C	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999921	0.35320	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000508569;ENST00000514015;ENST00000539796	T;T;T;T;T;T;T;T;T	0.67698	0.13;0.16;0.16;0.17;0.17;0.16;-0.28;-0.26;0.57	5.47	5.47	0.80525	.	0.044174	0.85682	D	0.000000	T	0.62048	0.2396	L	0.48642	1.525	0.47214	D	0.999355	B;B;P;B	0.41041	0.227;0.064;0.736;0.007	B;B;B;B	0.36378	0.101;0.032;0.223;0.018	T	0.66400	-0.5933	10	0.54805	T	0.06	-7.4171	19.3051	0.94158	0.0:1.0:0.0:0.0	.	447;467;457;449	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	T	467;447;457;457;457;449;417;425;401	ENSP00000340874:R467T;ENSP00000389610:R447T;ENSP00000421925:R457T;ENSP00000426665:R457T;ENSP00000396219:R457T;ENSP00000422390:R449T;ENSP00000423597:R417T;ENSP00000424606:R425T;ENSP00000441153:R401T	ENSP00000340874:R467T	R	-	2	0	MEF2C	88054229	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.609000	0.61148	2.723000	0.93209	0.655000	0.94253	AGG		0.493	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		77	69	0	0	0	1	0	77	69				
LY86-AS1	285780	broad.mit.edu	37	6	6347394	6347394	+	RNA	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr6:6347394A>G	ENST00000429345.1	-	0	1244					NR_026970.1				LY86 antisense RNA 1																		AGTTTGGTTGACTGATGCTTC	0.483																																						ENST00000429345.1																			0																																																			285780							g.chr6:6347394A>G	AK091027		6p25.1	2012-10-12	2012-08-15	2010-11-25	ENSG00000216863	ENSG00000216863		"""Long non-coding RNAs"""	26593	non-coding RNA	RNA, long non-coding			"""LY86 antisense RNA (non-protein coding)"", ""LY86 antisense RNA 1 (non-protein coding)"""	LY86AS, LY86-AS			Standard	NR_026970		Approved	FLJ33708	uc003mwx.2		OTTHUMG00000014192		6.37:g.6347394A>G								NR_026970.1						0	1244	-									RNA	SNP	ENST00000429345.1	37																																																																																						0.483	LY86-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000280397.1	NR_026970		3	5	0	0	0	1	0	3	5				
NALCN	259232	broad.mit.edu	37	13	101833498	101833498	+	Intron	SNP	A	A	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr13:101833498A>C	ENST00000251127.6	-	15	1846				NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.V652G	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective						calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTCCCAAGCCACGCAGATGCC	0.542																																						ENST00000376196.3																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(1954-1956)gTg>gGg		sodium leak channel, non-selective							217.0	200.0	205.0					13																	101833498		876	1991	2867	SO:0001627	intron_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101833498A>C	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1765-4773T>G	13.37:g.101833498A>C						NALCN_ENST00000251127.6_Intron|NALCN_ENST00000470333.1_5'UTR	p.V652G			Q8IZF0	NALCN_HUMAN			15	2114	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		0					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.1955T>G	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	A	8.733	0.917151	0.17982	.	.	ENSG00000102452	ENST00000376196	D	0.98684	-5.07	2.25	1.0	0.19881	.	.	.	.	.	D	0.95313	0.8479	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	D	0.90105	0.4187	8	0.38643	T	0.18	.	5.0	0.14259	0.6566:0.3434:0.0:0.0	.	652	F2Z323	.	G	652	ENSP00000365367:V652G	ENSP00000365367:V652G	V	-	2	0	NALCN	100631499	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.123000	0.15708	0.293000	0.22520	0.421000	0.28195	GTG		0.542	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		66	58	0	0	0	1	0	66	58				
TTI1	9675	broad.mit.edu	37	20	36639950	36639950	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr20:36639950C>A	ENST00000373448.2	-	3	2507	c.2269G>T	c.(2269-2271)Gtc>Ttc	p.V757F	TTI1_ENST00000449821.1_Missense_Mutation_p.V757F|TTI1_ENST00000373447.3_Missense_Mutation_p.V757F|TTI1_ENST00000487362.1_5'Flank	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	757					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGAACGCTGACAAAGGAAGCA	0.493																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(2269-2271)Gtc>Ttc		TELO2 interacting protein 1							62.0	55.0	57.0					20																	36639950		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36639950C>A	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2269G>T	20.37:g.36639950C>A	ENSP00000362547:p.Val757Phe					TTI1_ENST00000373447.3_Missense_Mutation_p.V757F|TTI1_ENST00000449821.1_Missense_Mutation_p.V757F	p.V757F	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	2507	-			757					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.2269G>T	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653168	0.47362	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.66099	-0.19;-0.19;-0.19	5.08	4.09	0.47781	Armadillo-like helical (1);Armadillo-type fold (1);	0.170192	0.52532	D	0.000065	T	0.60856	0.2301	M	0.62723	1.935	0.36033	D	0.839553	P	0.50443	0.935	P	0.46825	0.528	T	0.63314	-0.6665	10	0.11794	T	0.64	-22.6087	13.9192	0.63921	0.0:0.7978:0.2022:0.0	.	757	O43156	TTI1_HUMAN	F	757	ENSP00000362547:V757F;ENSP00000362546:V757F;ENSP00000407270:V757F	ENSP00000362546:V757F	V	-	1	0	TTI1	36073364	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.109000	0.31135	2.627000	0.88993	0.650000	0.86243	GTC		0.493	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		11	19	1	0	0.00829132	1	0.00844581	11	19				
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	G	rs55863639		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:7579312C>G	ENST00000269305.4	-	4	564	c.375G>C	c.(373-375)acG>acC	p.T125T	TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000359597.4_Splice_Site_p.T125T|TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000420246.2_Splice_Site_p.T125T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAACTGACCGTGCAAGTCA	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		66	Substitution - coding silent(51)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Insertion - In frame(1)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(21)|haematopoietic_and_lymphoid_tissue(14)|large_intestine(8)|upper_aerodigestive_tract(7)|bone(4)|central_nervous_system(3)|biliary_tract(3)|stomach(1)|liver(1)|urinary_tract(1)|kidney(1)|ovary(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CS004351|CS011573|CS971913	TP53	S	rs55863639	c.e4+1	Other conserved DNA damage response genes	tumor protein p53							66.0	61.0	63.0					17																	7579312		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579312C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.375+1G>C	17.37:g.7579312C>G		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000269305.4_Splice_Site_p.T125_splice	p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	507	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	125		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.375_splice	CCDS11118.1																																																																																				0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent	28	37	0	0	0	1	0	28	37				
MYO15A	51168	broad.mit.edu	37	17	18022345	18022345	+	Silent	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:18022345C>T	ENST00000205890.5	+	2	569	c.231C>T	c.(229-231)cgC>cgT	p.R77R		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	77					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGAAGGCCCGCACCGTGCTCA	0.617																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(229-231)cgC>cgT		myosin XVA							15.0	18.0	17.0					17																	18022345		1956	4130	6086	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18022345C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.231C>T	17.37:g.18022345C>T							p.R77R	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	569	+	all_neural(463;0.228)		77			Myosin head-like.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.231C>T	CCDS42271.1																																																																																				0.617	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		11	8	0	0	0	1	0	11	8				
TRPC6	7225	broad.mit.edu	37	11	101353835	101353835	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:101353835A>G	ENST00000344327.3	-	5	1779	c.1355T>C	c.(1354-1356)aTt>aCt	p.I452T	TRPC6_ENST00000348423.4_Missense_Mutation_p.I336T|TRPC6_ENST00000532133.1_Missense_Mutation_p.I452T|TRPC6_ENST00000360497.4_Missense_Mutation_p.I397T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	452					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCCCAGAAAAATGGTGAAGGA	0.428																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1354-1356)aTt>aCt		transient receptor potential cation channel, subfamily C, member 6							111.0	100.0	104.0					11																	101353835		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101353835A>G	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1355T>C	11.37:g.101353835A>G	ENSP00000340913:p.Ile452Thr					TRPC6_ENST00000360497.4_Missense_Mutation_p.I397T|TRPC6_ENST00000532133.1_Missense_Mutation_p.I452T|TRPC6_ENST00000348423.4_Missense_Mutation_p.I336T	p.I452T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	5	1779	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	452					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.1355T>C	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.357522	0.24598	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.52	5.52	0.82312	.	0.048852	0.85682	D	0.000000	T	0.39091	0.1065	L	0.35249	1.045	0.80722	D	1	D;P;D	0.62365	0.991;0.489;0.985	P;B;P	0.61800	0.894;0.253;0.787	T	0.08371	-1.0725	10	0.13108	T	0.6	-6.1068	15.6364	0.76958	1.0:0.0:0.0:0.0	.	397;336;452	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	T	452;452;336;397	ENSP00000340913:I452T;ENSP00000435574:I452T;ENSP00000343672:I336T;ENSP00000353687:I397T	ENSP00000340913:I452T	I	-	2	0	TRPC6	100859045	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.339000	0.96797	2.089000	0.63090	0.482000	0.46254	ATT		0.428	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		22	39	0	0	0	1	0	22	39				
KIAA0100	9703	broad.mit.edu	37	17	26938788	26938788	+	IGR	SNP	C	C	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:26938788C>A	ENST00000528896.2	-	0	7407				SGK494_ENST00000301037.5_Missense_Mutation_p.R240L|SPAG5-AS1_ENST00000414744.1_RNA|RP11-192H23.4_ENST00000577790.1_Intron|SGK494_ENST00000469832.3_5'Flank|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.6_ENST00000579019.2_RNA|RP11-192H23.4_ENST00000534850.1_3'UTR	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)		p.R279Q(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGACTTACCTCGTTCATCTAG	0.428																																						ENST00000301037.5																			1	Substitution - Missense(1)	p.R279Q(1)	breast(1)								c.(718-720)cGa>cTa									193.0	191.0	191.0					17																	26938788		2203	4300	6503	SO:0001628	intergenic_variant	124923							g.chr17:26938788C>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26938788C>A						SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.4_ENST00000577790.1_Intron|RP11-192H23.4_ENST00000534850.1_3'UTR	p.R240L	NM_001174103.1	NP_001167574.1					8	718	-								A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.719G>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447742	0.26074	.	.	ENSG00000167524	ENST00000301037	T	0.08282	3.11	5.63	4.66	0.58398	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.256528	0.30068	N	0.010500	T	0.10294	0.0252	L	0.31420	0.93	0.37725	D	0.925056	B	0.28760	0.221	B	0.37780	0.258	T	0.18967	-1.0320	10	0.54805	T	0.06	-10.6977	13.7918	0.63146	0.0:0.9262:0.0:0.0738	.	240	Q96LW2	SG494_HUMAN	L	240	ENSP00000301037:R240L	ENSP00000301037:R240L	R	-	2	0	AC005726.6	23962915	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	1.530000	0.36007	1.385000	0.46445	0.563000	0.77884	CGA		0.428	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		4	203	1	0	0.150653	1	0.150653	4	203				
MYBPC1	4604	broad.mit.edu	37	12	102053472	102053472	+	Missense_Mutation	SNP	G	G	A	rs149018411	byFrequency	TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:102053472G>A	ENST00000550270.1	+	17	1715	c.1715G>A	c.(1714-1716)cGg>cAg	p.R572Q	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R546Q|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R572Q|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R558Q|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R560Q|MYBPC1_ENST00000549145.1_Missense_Mutation_p.R585Q|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R572Q|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R473Q|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R597Q|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R597Q|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R553Q|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R572Q|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R559Q|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R572Q|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R572Q			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	572	Ig-like C2-type 5.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R572Q(1)|p.R597Q(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GGCAGTGGCCGGATAAGAACA	0.408																																						ENST00000549145.1																			2	Substitution - Missense(2)	p.R572Q(1)|p.R597Q(1)	haematopoietic_and_lymphoid_tissue(2)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(1753-1755)cGg>cAg		myosin binding protein C, slow type		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	118.0	106.0	110.0		1790,1790,1715,1715	5.4	1.0	12	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	MYBPC1	NM_002465.2,NM_206819.1,NM_206820.1,NM_206821.1	43,43,43,43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	597/1172,597/1149,572/1142,572/1124	102053472	2,13004	2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102053472G>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1715G>A	12.37:g.102053472G>A	ENSP00000449702:p.Arg572Gln					MYBPC1_ENST00000553190.1_Missense_Mutation_p.R572Q|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R473Q|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R597Q|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R572Q|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R572Q|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R546Q|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R572Q|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R572Q|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R558Q|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R597Q|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R560Q|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R572Q|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R559Q|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R553Q	p.R585Q			Q00872	MYPC1_HUMAN			18	1854	+			572			Ig-like C2-type 5.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.1754G>A	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247743	0.95305	2.27E-4	1.16E-4	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.42	5.42	0.78866	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.46758	D	0.000268	T	0.79458	0.4449	H	0.95079	3.62	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;0.999;0.999;1.0;0.999	D;D;D;D;D;D;D;D;D;D	0.91635	0.995;0.999;0.998;0.997;0.997;0.98;0.997;0.998;0.998;0.997	D	0.85779	0.1360	10	0.87932	D	0	.	19.2175	0.93783	0.0:0.0:1.0:0.0	.	553;560;572;572;559;546;572;572;597;597	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	Q	546;572;572;572;559;558;597;585;572;597;572;553;560;597;473;572	ENSP00000448175:R546Q;ENSP00000400908:R572Q;ENSP00000388989:R572Q;ENSP00000353822:R572Q;ENSP00000376665:R559Q;ENSP00000447362:R558Q;ENSP00000354845:R597Q;ENSP00000447660:R585Q;ENSP00000447900:R572Q;ENSP00000440034:R572Q;ENSP00000446128:R553Q;ENSP00000442847:R560Q;ENSP00000354849:R597Q;ENSP00000447116:R473Q;ENSP00000449702:R572Q	ENSP00000353822:R572Q	R	+	2	0	MYBPC1	100577603	1.000000	0.71417	0.996000	0.52242	0.825000	0.46686	9.438000	0.97539	2.538000	0.85594	0.655000	0.94253	CGG		0.408	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			16	44	0	0	0	1	0	16	44				
GPATCH1	55094	broad.mit.edu	37	19	33617574	33617574	+	Silent	SNP	C	C	T	rs575320860	byFrequency	TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:33617574C>T	ENST00000170564.2	+	19	3014	c.2700C>T	c.(2698-2700)tcC>tcT	p.S900S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	900					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CCGAGAGTTCCGACAGCAGCG	0.483											OREG0025410	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0.0	0.0	5008	,	,		16171	0.001		0.0	False		,,,				2504	0.001				Pancreas(67;88 1713 4567 18227)	ENST00000170564.2																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(2698-2700)tcC>tcT		G patch domain containing 1							86.0	82.0	83.0					19																	33617574		2203	4300	6503	SO:0001819	synonymous_variant	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33617574C>T	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.2700C>T	19.37:g.33617574C>T			OREG0025410	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841		p.S900S	NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN			19	3014	+	Esophageal squamous(110;0.137)		900					Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	37	c.2700C>T	CCDS12428.1																																																																																				0.483	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		20	65	0	0	0	1	0	20	65				
TP53	7157	broad.mit.edu	37	17	7573926	7573926	+	Splice_Site	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:7573926C>T	ENST00000269305.4	-	10	1290		c.e10+1		TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(2)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGTCACTCACCTGGAGTGAG	0.592		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		10	Whole gene deletion(8)|Unknown(2)	p.0?(8)|p.?(2)	bone(4)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e11+1	Other conserved DNA damage response genes	tumor protein p53							50.0	35.0	40.0					17																	7573926		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7573926C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1100+1G>A	17.37:g.7573926C>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	11	1366	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478123	0.26511	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3428	0.55103	0.0:0.8315:0.1685:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7514651	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	2.341000	0.43983	2.549000	0.85964	0.561000	0.74099	.		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	6	7	0	0	0	1	0	6	7				
LUZP2	338645	broad.mit.edu	37	11	24750790	24750790	+	Silent	SNP	A	A	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:24750790A>C	ENST00000336930.6	+	2	204	c.138A>C	c.(136-138)acA>acC	p.T46T	LUZP2_ENST00000533227.1_5'UTR|LUZP2_ENST00000531187.1_3'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	46						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GTCAGCTGACAAAGACATCAA	0.413																																						ENST00000336930.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(136-138)acA>acC		leucine zipper protein 2							73.0	74.0	74.0					11																	24750790		2203	4299	6502	SO:0001819	synonymous_variant	338645					extracellular region		g.chr11:24750790A>C	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.138A>C	11.37:g.24750790A>C						LUZP2_ENST00000533227.1_5'UTR|LUZP2_ENST00000531187.1_3'UTR	p.T46T			Q86TE4	LUZP2_HUMAN			2	204	+			46					A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Silent	SNP	ENST00000336930.6	37	c.138A>C	CCDS31446.1																																																																																				0.413	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909		23	74	0	0	0	1	0	23	74				
SMG1	23049	broad.mit.edu	37	16	18827673	18827673	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:18827673T>C	ENST00000446231.2	-	58	10665	c.10253A>G	c.(10252-10254)cAt>cGt	p.H3418R	SMG1_ENST00000389467.3_Missense_Mutation_p.H3419R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3418					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTGTCGGTTATGACCAGTGAG	0.393																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(10252-10254)cAt>cGt		SMG1 phosphatidylinositol 3-kinase-related kinase							109.0	102.0	104.0					16																	18827673		1890	4111	6001	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18827673T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10253A>G	16.37:g.18827673T>C	ENSP00000402515:p.His3418Arg					SMG1_ENST00000389467.3_Missense_Mutation_p.H3419R	p.H3418R			Q96Q15	SMG1_HUMAN			58	10665	-			3418					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.10253A>G	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.072283	0.76415	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01572	4.77;4.76	6.17	6.17	0.99709	.	0.155078	0.45867	D	0.000331	T	0.06462	0.0166	L	0.32530	0.975	0.49915	D	0.999832	D	0.57899	0.981	D	0.69824	0.966	T	0.37009	-0.9724	10	0.72032	D	0.01	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	3418	Q96Q15	SMG1_HUMAN	R	3418;3419	ENSP00000402515:H3418R;ENSP00000374118:H3419R	ENSP00000374118:H3419R	H	-	2	0	SMG1	18735174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.327000	0.79147	2.371000	0.80710	0.533000	0.62120	CAT		0.393	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		25	23	0	0	0	1	0	25	23				
TREX2	11219	broad.mit.edu	37	X	152710807	152710807	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chrX:152710807C>T	ENST00000334497.2	-	11	1352	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	TREX2_ENST00000370232.1_Missense_Mutation_p.A71T|HAUS7_ENST00000484394.1_5'Flank|TREX2_ENST00000330912.2_Missense_Mutation_p.A28T|TREX2_ENST00000414588.1_Missense_Mutation_p.A70T|TREX2_ENST00000370231.2_Missense_Mutation_p.A28T|TREX2_ENST00000393862.2_Missense_Mutation_p.A28T|TREX2_ENST00000402951.1_Missense_Mutation_p.A71T|TREX2_ENST00000338525.2_Missense_Mutation_p.A28T			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	71					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GACAGCTCGGCAATCTCGGGC	0.642								Editing and processing nucleases																														ENST00000330912.2																			0				endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11						c.(82-84)Gcc>Acc	Editing and processing nucleases	three prime repair exonuclease 2							30.0	33.0	32.0					X																	152710807		2198	4298	6496	SO:0001583	missense	11219				DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding	g.chrX:152710807C>T	AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.211G>A	X.37:g.152710807C>T	ENSP00000334993:p.Ala71Thr					TREX2_ENST00000393862.2_Missense_Mutation_p.A28T|TREX2_ENST00000370232.1_Missense_Mutation_p.A71T|TREX2_ENST00000370231.2_Missense_Mutation_p.A28T|TREX2_ENST00000338525.2_Missense_Mutation_p.A28T|TREX2_ENST00000402951.1_Missense_Mutation_p.A71T|TREX2_ENST00000414588.1_Missense_Mutation_p.A70T|TREX2_ENST00000334497.2_Missense_Mutation_p.A71T	p.A28T			Q9BQ50	TREX2_HUMAN			13	1632	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		71					Q45F08|Q9UN77	Missense_Mutation	SNP	ENST00000334497.2	37	c.82G>A		.	.	.	.	.	.	.	.	.	.	C	0.027	-1.358892	0.01245	.	.	ENSG00000183479	ENST00000393862;ENST00000330912;ENST00000338525;ENST00000334497;ENST00000370232;ENST00000402951;ENST00000414588;ENST00000370231	T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.04	5.04	0.67666	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.128473	0.33217	U	0.005144	T	0.12603	0.0306	N	0.01454	-0.855	0.21220	N	0.999757	P;P	0.46784	0.884;0.537	B;B	0.38500	0.275;0.191	T	0.31308	-0.9948	10	0.02654	T	1	-5.5837	8.6552	0.34060	0.0:0.8933:0.0:0.1067	.	70;71	Q06S70;Q9BQ50	.;TREX2_HUMAN	T	28;28;28;71;71;71;70;28	ENSP00000377442:A28T;ENSP00000333441:A28T;ENSP00000345218:A28T;ENSP00000334993:A71T;ENSP00000359252:A71T;ENSP00000386078:A71T;ENSP00000401692:A70T;ENSP00000359251:A28T	ENSP00000333441:A28T	A	-	1	0	TREX2	152364001	0.465000	0.25815	0.031000	0.17742	0.010000	0.07245	1.585000	0.36600	2.082000	0.62665	0.529000	0.55759	GCC		0.642	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1	NM_080701		7	2	0	0	0	1	0	7	2				
FMNL3	91010	broad.mit.edu	37	12	50045040	50045040	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:50045040G>A	ENST00000293590.5	-	16	1941	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	FMNL3_ENST00000550488.1_Missense_Mutation_p.R570W|FMNL3_ENST00000352151.5_Missense_Mutation_p.R519W|FMNL3_ENST00000335154.5_Missense_Mutation_p.R570W			Q8IVF7	FMNL3_HUMAN	formin-like 3	570	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						ACAGGCAGCCGGAACTTGGTC	0.517																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(1708-1710)Cgg>Tgg		formin-like 3							86.0	87.0	87.0					12																	50045040		1939	4160	6099	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50045040G>A	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1708C>T	12.37:g.50045040G>A	ENSP00000293590:p.Arg570Trp					FMNL3_ENST00000352151.5_Missense_Mutation_p.R519W|FMNL3_ENST00000550488.1_Missense_Mutation_p.R570W|FMNL3_ENST00000293590.5_Missense_Mutation_p.R570W	p.R570W	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			16	1941	-			570			FH2.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.1708C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.128654	0.94473	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.41	5.41	0.78517	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.058191	0.64402	D	0.000001	T	0.54224	0.1845	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.996;0.999	T	0.60712	-0.7209	10	0.72032	D	0.01	.	18.3387	0.90298	0.0:0.0:1.0:0.0	.	519;570;570	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	W	570;570;519;570	ENSP00000335655:R570W;ENSP00000447479:R570W;ENSP00000344311:R519W;ENSP00000293590:R570W	ENSP00000293590:R570W	R	-	1	2	FMNL3	48331307	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.970000	0.88000	2.699000	0.92147	0.655000	0.94253	CGG		0.517	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		29	50	0	0	0	1	0	29	50				
HDGFRP2	84717	broad.mit.edu	37	19	4491567	4491567	+	Missense_Mutation	SNP	C	C	T	rs375013451		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:4491567C>T	ENST00000301284.4	+	5	558	c.494C>T	c.(493-495)tCg>tTg	p.S165L	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.S165L	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		165	Ser-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										TTCCAGATGTCGGTCTCGAAA	0.622																																						ENST00000301284.4																			0											c.(493-495)tCg>tTg				C	LEU/SER,LEU/SER	1,3975		0,1,1987	37.0	41.0	40.0		494,494	4.5	0.8	19		40	0,8298		0,0,4149	no	missense,missense	HDGFRP2	NM_032631.2,NM_001001520.1	145,145	0,1,6136	TT,TC,CC		0.0,0.0252,0.0081	benign,benign	165/676,165/677	4491567	1,12273	1988	4149	6137	SO:0001583	missense	84717				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4491567C>T																												ENST00000301284.4:c.494C>T	19.37:g.4491567C>T	ENSP00000301284:p.Ser165Leu					HDGFRP2_ENST00000586684.1_Missense_Mutation_p.S165L	p.S165L	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN			5	558	+			165			Ser-rich.		I3L080|K7EQZ6|Q96GI5|Q9BW08	Missense_Mutation	SNP	ENST00000301284.4	37	c.494C>T	CCDS42472.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695530	0.30052	2.52E-4	0.0	ENSG00000167674	ENST00000301284;ENST00000398364	T	0.46451	0.87	4.52	4.52	0.55395	.	0.137128	0.48767	D	0.000180	T	0.33731	0.0873	L	0.43152	1.355	0.23056	N	0.99836	B;B	0.32731	0.382;0.382	B;B	0.23018	0.043;0.043	T	0.37244	-0.9714	10	0.56958	D	0.05	.	14.3741	0.66862	0.0:1.0:0.0:0.0	.	165;165	C9JEE1;Q7Z4V5	.;HDGR2_HUMAN	L	165;151	ENSP00000301284:S165L	ENSP00000301284:S165L	S	+	2	0	AC011498.1	4442567	0.992000	0.36948	0.819000	0.32651	0.159000	0.22180	3.257000	0.51500	2.219000	0.72066	0.555000	0.69702	TCG		0.622	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1			21	36	0	0	0	1	0	21	36				
NUMBL	9253	broad.mit.edu	37	19	41173407	41173407	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:41173407C>T	ENST00000252891.4	-	10	1963	c.1796G>A	c.(1795-1797)gGc>gAc	p.G599D	NUMBL_ENST00000540131.1_Missense_Mutation_p.G558D|NUMBL_ENST00000598779.1_Missense_Mutation_p.G558D	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	599					adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TTGCAGGTCGCCAGAAAAGGG	0.612																																						ENST00000252891.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16						c.(1795-1797)gGc>gAc		numb homolog (Drosophila)-like							16.0	15.0	15.0					19																	41173407		2202	4300	6502	SO:0001583	missense	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41173407C>T	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1796G>A	19.37:g.41173407C>T	ENSP00000252891:p.Gly599Asp					NUMBL_ENST00000540131.1_Missense_Mutation_p.G558D|NUMBL_ENST00000598779.1_Missense_Mutation_p.G558D	p.G599D	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		10	1963	-			599					Q7Z4J9	Missense_Mutation	SNP	ENST00000252891.4	37	c.1796G>A	CCDS12561.1	.	.	.	.	.	.	.	.	.	.	C	9.357	1.067026	0.20067	.	.	ENSG00000105245	ENST00000252891;ENST00000540131	T;T	0.55234	0.53;0.55	4.03	4.03	0.46877	.	0.409699	0.25073	N	0.033352	T	0.28001	0.0690	N	0.08118	0	0.24980	N	0.991608	P;P	0.35575	0.51;0.51	B;B	0.32211	0.142;0.142	T	0.11966	-1.0566	10	0.33141	T	0.24	-15.9199	9.3719	0.38258	0.0:0.8982:0.0:0.1018	.	597;599	A8K033;Q9Y6R0	.;NUMBL_HUMAN	D	599;558	ENSP00000252891:G599D;ENSP00000442759:G558D	ENSP00000252891:G599D	G	-	2	0	NUMBL	45865247	0.230000	0.23740	0.468000	0.27192	0.002000	0.02628	1.947000	0.40293	2.278000	0.76064	0.543000	0.68304	GGC		0.612	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		3	11	0	0	0	1	0	3	11				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														374666							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		5	11	0	0	0	1	0	5	11				
KIAA0196	9897	broad.mit.edu	37	8	126059561	126059561	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr8:126059561G>A	ENST00000318410.7	-	20	2741	c.2392C>T	c.(2392-2394)Caa>Taa	p.Q798*	KIAA0196-AS1_ENST00000519140.1_RNA|KIAA0196_ENST00000517845.1_Nonsense_Mutation_p.Q650*	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	798					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TACATGCTTTGCCAATCTTGA	0.353																																						ENST00000318410.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42						c.(2392-2394)Caa>Taa		KIAA0196							98.0	88.0	92.0					8																	126059561		2203	4300	6503	SO:0001587	stop_gained	9897				cell death	WASH complex		g.chr8:126059561G>A		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2392C>T	8.37:g.126059561G>A	ENSP00000318016:p.Gln798*					KIAA0196_ENST00000517845.1_Nonsense_Mutation_p.Q650*	p.Q798*	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		20	2741	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		798					A8K4R7|Q3KQX5|Q8TBQ2	Nonsense_Mutation	SNP	ENST00000318410.7	37	c.2392C>T	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	G	38	6.661446	0.97743	.	.	ENSG00000164961	ENST00000318410;ENST00000517845	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-14.7991	19.1804	0.93620	0.0:0.0:1.0:0.0	.	.	.	.	X	798;650	.	ENSP00000318016:Q798X	Q	-	1	0	KIAA0196	126128743	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.854000	0.99522	2.553000	0.86117	0.555000	0.69702	CAA		0.353	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		11	52	0	0	0	1	0	11	52				
TAPT1-AS1	202020	broad.mit.edu	37	4	16258063	16258063	+	RNA	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr4:16258063G>A	ENST00000570786.1	+	0	418				TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA	NR_027696.1				TAPT1 antisense RNA 1 (head to head)																		GACCTTGTCAGCCTCGGCCAC	0.547																																						ENST00000570786.1																			0																																																			202020							g.chr4:16258063G>A			4p15.32	2012-11-06	2012-11-06		ENSG00000263327	ENSG00000263327		"""Long non-coding RNAs"""	26832	non-coding RNA	RNA, long non-coding							Standard	NR_027696		Approved	FLJ39653			OTTHUMG00000160321		4.37:g.16258063G>A						TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA		NR_027696.1						0	418	+									RNA	SNP	ENST00000570786.1	37																																																																																						0.547	TAPT1-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000439459.1	NR_027696		9	31	0	0	0	1	0	9	31				
TTN	7273	broad.mit.edu	37	2	179590629	179590629	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:179590629T>C	ENST00000591111.1	-	68	19693	c.19469A>G	c.(19468-19470)tAc>tGc	p.Y6490C	TTN_ENST00000342992.6_Missense_Mutation_p.Y5563C|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y6807C|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12091	Ig-like 46.				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)			TGCAATCTTGTATTTCTTGCT	0.428																																						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.(20419-20421)tAc>tGc		titin							114.0	111.0	112.0					2																	179590629		1920	4148	6068	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179590629T>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.19469A>G	2.37:g.179590629T>C	ENSP00000465570:p.Tyr6490Cys					TTN_ENST00000342992.6_Missense_Mutation_p.Y5563C|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Y6490C	p.Y6807C	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)		70	20644	-			6490			Ig-like 49.		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.20420A>G		.	.	.	.	.	.	.	.	.	.	T	13.95	2.389878	0.42410	.	.	ENSG00000155657	ENST00000342992	T	0.69306	-0.39	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84732	0.5537	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87688	0.2552	9	0.87932	D	0	.	16.2988	0.82793	0.0:0.0:0.0:1.0	.	6490	Q8WZ42	TITIN_HUMAN	C	5563	ENSP00000343764:Y5563C	ENSP00000343764:Y5563C	Y	-	2	0	TTN	179298874	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.922000	0.70036	2.311000	0.77944	0.533000	0.62120	TAC		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	18	0	0	0	1	0	12	18				
ZNF418	147686	broad.mit.edu	37	19	58438683	58438683	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:58438683C>T	ENST00000396147.1	-	4	1157	c.866G>A	c.(865-867)gGa>gAa	p.G289E	ZNF418_ENST00000599852.1_Missense_Mutation_p.G204E|ZNF418_ENST00000425570.3_Missense_Mutation_p.G310E|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000595830.1_Missense_Mutation_p.G289E	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CCCACATTCTCCACATTCATA	0.433																																						ENST00000396147.1																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31						c.(865-867)gGa>gAa		zinc finger protein 418							81.0	85.0	84.0					19																	58438683		2188	4293	6481	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58438683C>T	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.866G>A	19.37:g.58438683C>T	ENSP00000379451:p.Gly289Glu					ZNF418_ENST00000425570.3_Missense_Mutation_p.G310E|ZNF418_ENST00000595830.1_Missense_Mutation_p.G289E|ZNF418_ENST00000599852.1_Missense_Mutation_p.G204E|ZNF418_ENST00000600989.1_Intron	p.G289E	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	1157	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	289					Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.866G>A	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	5.806	0.333055	0.11013	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.07021	3.23;3.23	2.32	-4.63	0.03359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06096	0.0158	N	0.01473	-0.845	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.23084	-1.0198	9	0.33940	T	0.23	.	5.457	0.16596	0.0:0.1793:0.2939:0.5268	.	289	Q8TF45	ZN418_HUMAN	E	289;310;255	ENSP00000379451:G289E;ENSP00000407039:G310E	ENSP00000379451:G289E	G	-	2	0	ZNF418	63130495	.	.	0.000000	0.03702	0.034000	0.12701	.	.	-1.000000	0.03438	-0.680000	0.03767	GGA		0.433	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		51	114	0	0	0	1	0	51	114				
RCC2	55920	broad.mit.edu	37	1	17747236	17747236	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:17747236A>G	ENST00000375436.4	-	7	1020	c.833T>C	c.(832-834)tTt>tCt	p.F278S	RCC2_ENST00000375433.3_Missense_Mutation_p.F278S	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	278					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		AGGGCACCCAAAGGAATAGAG	0.413																																						ENST00000375436.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17						c.(832-834)tTt>tCt		regulator of chromosome condensation 2							72.0	73.0	73.0					1																	17747236		2203	4300	6503	SO:0001583	missense	55920				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		g.chr1:17747236A>G		CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.833T>C	1.37:g.17747236A>G	ENSP00000364585:p.Phe278Ser					RCC2_ENST00000375433.3_Missense_Mutation_p.F278S	p.F278S	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	7	1020	-		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	278					Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	ENST00000375436.4	37	c.833T>C	CCDS181.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.791321	0.90367	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	D;D	0.86627	-2.15;-2.15	5.45	5.45	0.79879	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.93311	0.7868	M	0.81802	2.56	0.80722	D	1	D	0.64830	0.994	D	0.77004	0.989	D	0.94126	0.7384	10	0.87932	D	0	-16.7539	14.6288	0.68640	1.0:0.0:0.0:0.0	.	278	Q9P258	RCC2_HUMAN	S	278	ENSP00000364585:F278S;ENSP00000364582:F278S	ENSP00000364582:F278S	F	-	2	0	RCC2	17619823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.215000	0.95146	2.196000	0.70406	0.533000	0.62120	TTT		0.413	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715		3	58	0	0	0	1	0	3	58				
NPRL3	8131	broad.mit.edu	37	16	169169	169169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:169169G>A	ENST00000399953.3	-	3	676	c.274C>T	c.(274-276)Cga>Tga	p.R92*	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Intron	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	92					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						CCAACAAATCGCACATTATCA	0.478																																						ENST00000399953.3																			0				endometrium(1)|large_intestine(3)|ovary(2)	6						c.(274-276)Cga>Tga		nitrogen permease regulator-like 3 (S. cerevisiae)							87.0	89.0	88.0					16																	169169		1955	4146	6101	SO:0001587	stop_gained	8131						protein binding	g.chr16:169169G>A		CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"""conserved gene telomeric to alpha globin cluster"""	600928	"""chromosome 16 open reading frame 35"""	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.274C>T	16.37:g.169169G>A	ENSP00000382834:p.Arg92*					NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Intron	p.R92*	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN			3	676	-			92					D3DU40|Q1W6H0|Q4TT56|Q92469	Nonsense_Mutation	SNP	ENST00000399953.3	37	c.274C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.723317	0.98929	.	.	ENSG00000103148	ENST00000399953;ENST00000262313;ENST00000419636	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-31.1374	18.0399	0.89316	0.0:0.0:1.0:0.0	.	.	.	.	X	92;92;105	.	ENSP00000262313:R92X	R	-	1	2	NPRL3	109169	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.451000	0.97610	2.569000	0.86673	0.655000	0.94253	CGA		0.478	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039476		4	6	0	0	0	1	0	4	6				
PDILT	204474	broad.mit.edu	37	16	20386258	20386258	+	Silent	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:20386258C>T	ENST00000302451.4	-	5	815	c.567G>A	c.(565-567)gaG>gaA	p.E189E		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	189					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CATAGAACAACTCTGCTACTT	0.443																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(565-567)gaG>gaA		protein disulfide isomerase-like, testis expressed							172.0	144.0	153.0					16																	20386258		2203	4300	6503	SO:0001819	synonymous_variant	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20386258C>T		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.567G>A	16.37:g.20386258C>T							p.E189E	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			5	815	-			189					Q8IVQ5	Silent	SNP	ENST00000302451.4	37	c.567G>A	CCDS10584.1																																																																																				0.443	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		14	127	0	0	0	1	0	14	127				
RIMS1	22999	broad.mit.edu	37	6	73023285	73023285	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr6:73023285T>A	ENST00000521978.1	+	28	4040	c.4040T>A	c.(4039-4041)gTt>gAt	p.V1347D	RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000491071.2_Missense_Mutation_p.V1170D|RIMS1_ENST00000538414.1_Missense_Mutation_p.V153D|RIMS1_ENST00000348717.5_Missense_Mutation_p.V1139D|RIMS1_ENST00000517960.1_Missense_Mutation_p.V1139D|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000264839.7_Missense_Mutation_p.V1196D|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000401910.3_Missense_Mutation_p.V667D	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1347	Ser-rich.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTCAGTGATGTTTCCGCCATT	0.453																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(3586-3588)gTt>gAt		regulating synaptic membrane exocytosis 1							65.0	68.0	67.0					6																	73023285		2041	4197	6238	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:73023285T>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4040T>A	6.37:g.73023285T>A	ENSP00000428417:p.Val1347Asp					RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000538414.1_Missense_Mutation_p.V153D|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000401910.3_Missense_Mutation_p.V667D|RIMS1_ENST00000491071.2_Missense_Mutation_p.V1170D|RIMS1_ENST00000521978.1_Missense_Mutation_p.V1347D|RIMS1_ENST00000348717.5_Missense_Mutation_p.V1139D|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000517960.1_Missense_Mutation_p.V1139D|RIMS1_ENST00000518273.1_Intron	p.V1196D			Q86UR5	RIMS1_HUMAN			24	3587	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1347					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.3587T>A	CCDS47449.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	17.03|17.03|17.03	3.283477|3.283477|3.283477	0.59867|0.59867|0.59867	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000522211|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000264839;ENST00000517960;ENST00000521978;ENST00000401910;ENST00000453976;ENST00000370420;ENST00000538414	.|.|T;T;T;T;T;T;T;T;T	.|.|0.25749	.|.|2.03;2.38;2.1;2.38;2.06;2.18;2.25;1.78;1.85	5.74|5.74|5.74	3.35|3.35|3.35	0.38373|0.38373|0.38373	.|.|.	.|.|0.097259	.|.|0.43416	.|.|D	.|.|0.000575	.|T|T	.|0.30417|0.30417	.|0.0764|0.0764	L|L|L	0.61218|0.61218|0.61218	1.895|1.895|1.895	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;B;B;D;D;P	.|.|0.76494	.|.|0.996;0.99;0.423;0.392;0.999;0.981;0.938	.|.|D;P;P;B;D;P;B	.|.|0.66497	.|.|0.944;0.761;0.531;0.193;0.942;0.621;0.368	.|T|T	.|0.05550|0.05550	.|-1.0878|-1.0878	.|5|10	.|.|0.54805	.|.|T	.|.|0.06	-7.5123|-7.5123|-7.5123	10.0566|10.0566|10.0566	0.42248|0.42248|0.42248	0.0:0.1361:0.0:0.8639|0.0:0.1361:0.0:0.8639|0.0:0.1361:0.0:0.8639	.|.|.	.|.|153;1196;667;1139;423;1170;1347	.|.|B7Z7W2;E9PHR1;E9PF48;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.|.;.;.;.;.;.;RIMS1_HUMAN	X|I|D	692|265|1170;1196;1170;1139;1196;1139;1347;667;512;395;153	.|.|ENSP00000430101:V1170D;ENSP00000275037:V1139D;ENSP00000264839:V1196D;ENSP00000429959:V1139D;ENSP00000428417:V1347D;ENSP00000385649:V667D;ENSP00000389503:V512D;ENSP00000359448:V395D;ENSP00000439730:V153D	.|.|ENSP00000264839:V1196D	C|F|V	+|+|+	3|1|2	2|0|0	RIMS1|RIMS1|RIMS1	73080006|73080006|73080006	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.962000|0.962000|0.962000	0.63368|0.63368|0.63368	3.224000|3.224000|3.224000	0.51238|0.51238|0.51238	0.457000|0.457000|0.457000	0.26962|0.26962|0.26962	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	TGT|TTT|GTT		0.453	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			10	19	0	0	0	1	0	10	19				
TAPT1-AS1	202020	broad.mit.edu	37	4	16258116	16258116	+	RNA	SNP	G	G	A	rs113786825		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr4:16258116G>A	ENST00000570786.1	+	0	471				TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA	NR_027696.1				TAPT1 antisense RNA 1 (head to head)																		CGATGATGCGGTTGCTAGCGG	0.582																																						ENST00000570786.1																			0																																																			202020							g.chr4:16258116G>A			4p15.32	2012-11-06	2012-11-06		ENSG00000263327	ENSG00000263327		"""Long non-coding RNAs"""	26832	non-coding RNA	RNA, long non-coding							Standard	NR_027696		Approved	FLJ39653			OTTHUMG00000160321		4.37:g.16258116G>A						TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA		NR_027696.1						0	471	+									RNA	SNP	ENST00000570786.1	37																																																																																						0.582	TAPT1-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000439459.1	NR_027696		5	24	0	0	0	1	0	5	24				
CNTNAP5	129684	broad.mit.edu	37	2	125671862	125671862	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:125671862C>G	ENST00000431078.1	+	24	4282	c.3918C>G	c.(3916-3918)atC>atG	p.I1306M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1306					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.I1306I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AATATTTCATCTGAGAAACTG	0.378																																						ENST00000431078.1																			1	Substitution - coding silent(1)	p.I1306I(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(3916-3918)atC>atG		contactin associated protein-like 5							92.0	94.0	94.0					2																	125671862		1857	4103	5960	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125671862C>G	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3918C>G	2.37:g.125671862C>G	ENSP00000399013:p.Ile1306Met						p.I1306M	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	24	4282	+			1306					Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.3918C>G	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569975	0.65765	.	.	ENSG00000155052	ENST00000431078	D	0.92495	-3.05	6.14	3.36	0.38483	.	0.000000	0.50627	D	0.000116	D	0.95056	0.8399	M	0.82517	2.595	0.45995	D	0.998803	D	0.76494	0.999	D	0.80764	0.994	D	0.93161	0.6558	10	0.56958	D	0.05	.	7.0919	0.25289	0.1234:0.6772:0.0:0.1994	.	1306	Q8WYK1	CNTP5_HUMAN	M	1306	ENSP00000399013:I1306M	ENSP00000399013:I1306M	I	+	3	3	CNTNAP5	125388332	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.552000	0.23376	0.452000	0.26830	0.637000	0.83480	ATC		0.378	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			15	20	0	0	0	1	0	15	20				
RAB19	401409	broad.mit.edu	37	7	140125940	140125940	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:140125940G>T	ENST00000356407.3	+	3	712	c.644G>T	c.(643-645)tGc>tTc	p.C215F	RAB19_ENST00000275874.5_Missense_Mutation_p.C262F|RAB19_ENST00000537763.1_Missense_Mutation_p.C215F			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	215					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					AAGACCCACTGCACTTGCTAA	0.577																																						ENST00000275874.5																			0				breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(784-786)tGc>tTc		RAB19, member RAS oncogene family							50.0	43.0	46.0					7																	140125940		2203	4299	6502	SO:0001583	missense	401409				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr7:140125940G>T		CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"""RAB, member RAS oncogene"""	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.644G>T	7.37:g.140125940G>T	ENSP00000348778:p.Cys215Phe					RAB19_ENST00000356407.3_Missense_Mutation_p.C215F|RAB19_ENST00000537763.1_Missense_Mutation_p.C215F	p.C262F			A4D1S5	RAB19_HUMAN			5	983	+	Melanoma(164;0.0142)		215					A4D1S6|B2RTS6|B5MDR2|Q9UL27	Missense_Mutation	SNP	ENST00000356407.3	37	c.785G>T	CCDS34762.2	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518314	0.64634	.	.	ENSG00000146955	ENST00000275874;ENST00000537763;ENST00000356407	T;T;T	0.66280	-0.2;-0.04;-0.04	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.65331	-0.6194	9	.	.	.	.	19.8025	0.96515	0.0:0.0:1.0:0.0	.	215	A4D1S5	RAB19_HUMAN	F	262;215;215	ENSP00000275874:C262F;ENSP00000440167:C215F;ENSP00000348778:C215F	.	C	+	2	0	RAB19	139772409	1.000000	0.71417	0.212000	0.23672	0.379000	0.30106	7.317000	0.79018	2.687000	0.91594	0.561000	0.74099	TGC		0.577	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1			18	48	1	0	2.37509e-13	1	2.70497e-13	18	48				
BICC1	80114	broad.mit.edu	37	10	60549041	60549041	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr10:60549041T>A	ENST00000373886.3	+	7	624	c.620T>A	c.(619-621)cTg>cAg	p.L207Q		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	207					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CCTTTGGTGCTGATGTTTGAG	0.378																																						ENST00000373886.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						c.(619-621)cTg>cAg		bicaudal C homolog 1 (Drosophila)							119.0	112.0	114.0					10																	60549041		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60549041T>A	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.620T>A	10.37:g.60549041T>A	ENSP00000362993:p.Leu207Gln						p.L207Q	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN			7	624	+			207						Missense_Mutation	SNP	ENST00000373886.3	37	c.620T>A	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.602313	0.87157	.	.	ENSG00000122870	ENST00000373886	T	0.28895	1.59	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.50750	-0.8791	10	0.48119	T	0.1	-7.5957	15.9023	0.79387	0.0:0.0:0.0:1.0	.	207	Q9H694	BICC1_HUMAN	Q	207	ENSP00000362993:L207Q	ENSP00000362993:L207Q	L	+	2	0	BICC1	60219047	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.810000	0.86072	2.153000	0.67306	0.533000	0.62120	CTG		0.378	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		21	19	0	0	0	1	0	21	19				
PDZD2	23037	broad.mit.edu	37	5	32093099	32093099	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr5:32093099C>T	ENST00000438447.1	+	21	8202	c.7814C>T	c.(7813-7815)aCt>aTt	p.T2605I	PDZD2_ENST00000282493.3_Missense_Mutation_p.T2605I			O15018	PDZD2_HUMAN	PDZ domain containing 2	2605					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACCATCCTAACTCTCATTCAG	0.458											OREG0016544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(7813-7815)aCt>aTt		PDZ domain containing 2							82.0	83.0	83.0					5																	32093099		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32093099C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7814C>T	5.37:g.32093099C>T	ENSP00000402033:p.Thr2605Ile		OREG0016544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	829	PDZD2_ENST00000282493.3_Missense_Mutation_p.T2605I	p.T2605I			O15018	PDZD2_HUMAN			21	8202	+			2605					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.7814C>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601782	0.66445	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.38722	1.12;1.12	5.92	5.04	0.67666	PDZ/DHR/GLGF (1);	0.387094	0.22183	N	0.063462	T	0.40372	0.1114	L	0.59436	1.845	0.22017	N	0.999416	P	0.42827	0.791	B	0.40864	0.342	T	0.40553	-0.9557	10	0.54805	T	0.06	.	9.8437	0.41015	0.1577:0.6902:0.1521:0.0	.	2605	O15018	PDZD2_HUMAN	I	2605;2406;2605	ENSP00000402033:T2605I;ENSP00000282493:T2605I	ENSP00000282493:T2605I	T	+	2	0	PDZD2	32128856	0.824000	0.29247	0.877000	0.34402	0.745000	0.42441	2.032000	0.41127	1.482000	0.48325	0.650000	0.86243	ACT		0.458	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			28	76	0	0	0	1	0	28	76				
TRPM3	80036	broad.mit.edu	37	9	73230854	73230854	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr9:73230854C>A	ENST00000377111.2	-	17	2703	c.2460G>T	c.(2458-2460)aaG>aaT	p.K820N	TRPM3_ENST00000396285.1_Missense_Mutation_p.K667N|TRPM3_ENST00000423814.3_Missense_Mutation_p.K847N|TRPM3_ENST00000360823.2_Missense_Mutation_p.K682N|TRPM3_ENST00000396292.4_Missense_Mutation_p.K692N|TRPM3_ENST00000377105.1_Missense_Mutation_p.K679N|TRPM3_ENST00000377110.3_Missense_Mutation_p.K820N|TRPM3_ENST00000396280.5_Missense_Mutation_p.K669N|TRPM3_ENST00000408909.2_Missense_Mutation_p.K679N|TRPM3_ENST00000358082.3_Missense_Mutation_p.K682N|TRPM3_ENST00000357533.2_Missense_Mutation_p.K824N|TRPM3_ENST00000377106.1_Missense_Mutation_p.K692N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	845					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCTCTTTTTCCTTTGTGGGCT	0.468																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(2458-2460)aaG>aaT		transient receptor potential cation channel, subfamily M, member 3							286.0	247.0	260.0					9																	73230854		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73230854C>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2460G>T	9.37:g.73230854C>A	ENSP00000366315:p.Lys820Asn					TRPM3_ENST00000377105.1_Missense_Mutation_p.K679N|TRPM3_ENST00000377111.2_Missense_Mutation_p.K820N|TRPM3_ENST00000360823.2_Missense_Mutation_p.K682N|TRPM3_ENST00000423814.3_Missense_Mutation_p.K847N|TRPM3_ENST00000408909.2_Missense_Mutation_p.K679N|TRPM3_ENST00000377106.1_Missense_Mutation_p.K692N|TRPM3_ENST00000396292.4_Missense_Mutation_p.K692N|TRPM3_ENST00000357533.2_Missense_Mutation_p.K824N|TRPM3_ENST00000396285.1_Missense_Mutation_p.K667N|TRPM3_ENST00000396280.5_Missense_Mutation_p.K669N|TRPM3_ENST00000358082.3_Missense_Mutation_p.K682N	p.K820N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			17	2703	-			845					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.2460G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.896|3.896	-0.022943|-0.022943	0.07634|0.07634	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|D;D;D;D;D;D;D;D;D;D;D	.|0.82893	.|-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	5.3|5.3	1.18|1.18	0.20946|0.20946	.|.	.|0.246322	.|0.39083	.|N	.|0.001474	.|D	.|0.86657	.|0.5985	M|M	0.61703|0.61703	1.905|1.905	0.41325|0.41325	D|D	0.987205|0.987205	.|P;B;D;P;P;D;B;B	.|0.89917	.|0.823;0.036;0.977;0.858;0.729;1.0;0.35;0.056	.|B;B;P;P;B;D;B;B	.|0.76575	.|0.433;0.173;0.88;0.493;0.391;0.988;0.3;0.013	.|T	.|0.81595	.|-0.0861	.|10	.|0.24483	.|T	.|0.36	-25.6966|-25.6966	9.9952|9.9952	0.41896|0.41896	0.0:0.4717:0.0:0.5283|0.0:0.4717:0.0:0.5283	.|.	.|820;820;810;824;682;679;792;667	.|Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.;.	X|N	669|820;820;692;682;679;824;679;667;692;682;847	.|ENSP00000366315:K820N;ENSP00000366314:K820N;ENSP00000366310:K692N;ENSP00000354066:K682N;ENSP00000366309:K679N;ENSP00000350140:K824N;ENSP00000386127:K679N;ENSP00000379581:K667N;ENSP00000379587:K692N;ENSP00000350791:K682N;ENSP00000389542:K847N	.|ENSP00000350140:K824N	G|K	-|-	1|3	0|2	TRPM3|TRPM3	72420674|72420674	0.878000|0.878000	0.30173|0.30173	0.903000|0.903000	0.35520|0.35520	0.073000|0.073000	0.16967|0.16967	-0.023000|-0.023000	0.12456|0.12456	-0.143000|-0.143000	0.11334|0.11334	-1.847000|-1.847000	0.00572|0.00572	GGA|AAG		0.468	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		62	22	1	0	1.26778e-28	1	1.50664e-28	62	22				
DBX2	440097	broad.mit.edu	37	12	45429828	45429828	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:45429828C>A	ENST00000332700.6	-	2	644	c.473G>T	c.(472-474)cGc>cTc	p.R158L		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	158					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		ggatgcagggcgccgacagga	0.493																																						ENST00000332700.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(472-474)cGc>cTc		developing brain homeobox 2							69.0	72.0	71.0					12																	45429828		2203	4300	6503	SO:0001583	missense	440097					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:45429828C>A		CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"""Homeoboxes / ANTP class : NKL subclass"""	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.473G>T	12.37:g.45429828C>A	ENSP00000331470:p.Arg158Leu						p.R158L	NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN		GBM - Glioblastoma multiforme(48;0.0515)	2	644	-	Lung SC(27;0.192)	Lung NSC(34;0.142)	158						Missense_Mutation	SNP	ENST00000332700.6	37	c.473G>T	CCDS31781.1	.	.	.	.	.	.	.	.	.	.	C	1.334	-0.595948	0.03771	.	.	ENSG00000185610	ENST00000332700	D	0.90788	-2.73	5.95	3.75	0.43078	.	0.308323	0.28476	N	0.015211	T	0.78033	0.4220	N	0.24115	0.695	0.34684	D	0.725048	P	0.44090	0.826	B	0.35039	0.194	T	0.78765	-0.2076	10	0.27785	T	0.31	-1.8236	4.828	0.13427	0.0:0.5846:0.2134:0.2021	.	158	Q6ZNG2	DBX2_HUMAN	L	158	ENSP00000331470:R158L	ENSP00000331470:R158L	R	-	2	0	DBX2	43716095	1.000000	0.71417	0.999000	0.59377	0.156000	0.22039	2.117000	0.41939	1.460000	0.47911	0.655000	0.94253	CGC		0.493	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	NM_001004329		4	12	1	0	0.00909568	1	0.00920797	4	12				
COL5A1	1289	broad.mit.edu	37	9	137650128	137650128	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr9:137650128G>T	ENST00000371817.3	+	18	2335	c.1921G>T	c.(1921-1923)Gag>Tag	p.E641*		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	641	Triple-helical region.			E -> G (in Ref. 4; AA sequence). {ECO:0000305}.	axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTTGCCAGGCGAGAAGGGCCA	0.622																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1921-1923)Gag>Tag		collagen, type V, alpha 1							106.0	95.0	99.0					9																	137650128		2203	4300	6503	SO:0001587	stop_gained	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137650128G>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1921G>T	9.37:g.137650128G>T	ENSP00000360882:p.Glu641*						p.E641*	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	18	2335	+		Myeloproliferative disorder(178;0.0341)	641	E -> G (in Ref. 4; AA sequence).		Triple-helical region.		Q15094|Q5SUX4	Nonsense_Mutation	SNP	ENST00000371817.3	37	c.1921G>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	42	9.635791	0.99226	.	.	ENSG00000130635	ENST00000371817	.	.	.	4.49	4.49	0.54785	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	15.0448	0.71819	0.0:0.0:1.0:0.0	.	.	.	.	X	641	.	ENSP00000360882:E641X	E	+	1	0	COL5A1	136789949	1.000000	0.71417	0.974000	0.42286	0.366000	0.29705	8.515000	0.90548	2.192000	0.70111	0.555000	0.69702	GAG		0.622	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		57	35	1	0	5.52965e-18	1	6.43165e-18	57	35				
PAXIP1	22976	broad.mit.edu	37	7	154738073	154738073	+	Splice_Site	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:154738073A>G	ENST00000404141.1	-	20	3349		c.e20+1		PAXIP1_ENST00000473219.1_Splice_Site|PAXIP1_ENST00000397192.1_Splice_Site_p.Y1066H			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1						adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TGGAAAGGATATGATTCATAG	0.403																																						ENST00000404141.1																			0				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33						c.e20+1		PAX interacting (with transcription-activation domain) protein 1							119.0	117.0	117.0					7																	154738073		1893	4130	6023	SO:0001630	splice_region_variant	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154738073A>G	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.3194+1T>C	7.37:g.154738073A>G						PAXIP1_ENST00000473219.1_Splice_Site|PAXIP1_ENST00000397192.1_Splice_Site_p.Y1066_splice				Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	20	3349	-	all_neural(206;0.119)	all_hematologic(28;0.0592)						O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Splice_Site	SNP	ENST00000404141.1	37		CCDS47753.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.34|15.34	2.803483|2.803483	0.50315|0.50315	.|.	.|.	ENSG00000157212|ENSG00000157212	ENST00000404141|ENST00000397192;ENST00000357094;ENST00000323199	.|T	.|0.36157	.|1.27	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	.|0.000000	.|0.39834	.|U	.|0.001241	.|T	.|0.59838	.|0.2223	.|.	.|.	.|.	0.47949|0.47949	D|D	0.999556|0.999556	.|D	.|0.76494	.|0.999	.|D	.|0.85130	.|0.997	.|T	.|0.62534	.|-0.6834	.|8	.|.	.|.	.|.	.|.	14.66|14.66	0.68865|0.68865	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1066	.|Q6ZW49	.|PAXI1_HUMAN	.|H	-1|1066;890;1019	.|ENSP00000380376:Y1066H	.|.	.|Y	-|-	.|1	.|0	PAXIP1|PAXIP1	154369006|154369006	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.383000|0.383000	0.30230|0.30230	6.758000|6.758000	0.74929|0.74929	1.852000|1.852000	0.53769|0.53769	0.374000|0.374000	0.22700|0.22700	.|TAT		0.403	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349	Intron	41	76	0	0	0	1	0	41	76				
NXPE1	120400	broad.mit.edu	37	11	114401459	114401459	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:114401459G>A	ENST00000424269.1	-	2	270	c.271C>T	c.(271-273)Cat>Tat	p.H91Y	NXPE1_ENST00000536271.1_5'Flank|NXPE1_ENST00000536312.1_Missense_Mutation_p.H91Y|NXPE1_ENST00000251921.2_5'UTR			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	91						extracellular region (GO:0005576)											GTGTTCACATGGGTGAAAGGT	0.488																																						ENST00000536312.1																			0											c.(271-273)Cat>Tat		neurexophilin and PC-esterase domain family, member 1																																				SO:0001583	missense	120400							g.chr11:114401459G>A	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.271C>T	11.37:g.114401459G>A	ENSP00000411690:p.His91Tyr					NXPE1_ENST00000424269.1_Missense_Mutation_p.H91Y|NXPE1_ENST00000251921.2_5'UTR	p.H91Y							6	1163	-								B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37	c.271C>T		.	.	.	.	.	.	.	.	.	.	G	5.946	0.358520	0.11239	.	.	ENSG00000095110	ENST00000424269;ENST00000536312;ENST00000539878	T;T;T	0.50548	2.69;0.82;0.74	4.42	-1.81	0.07882	.	.	.	.	.	T	0.32406	0.0828	.	.	.	0.09310	N	1	B	0.32188	0.359	B	0.37480	0.251	T	0.33111	-0.9881	8	0.20046	T	0.44	.	8.5639	0.33527	0.0:0.2507:0.3638:0.3855	.	91	F5H6W7	.	Y	91	ENSP00000411690:H91Y;ENSP00000442984:H91Y;ENSP00000439779:H91Y	ENSP00000411690:H91Y	H	-	1	0	FAM55A	113906669	0.010000	0.17322	0.000000	0.03702	0.077000	0.17291	-0.469000	0.06648	-0.435000	0.07264	0.655000	0.94253	CAT		0.488	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		38	93	0	0	0	1	0	38	93				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	58	0	0	0	1	0	3	58				
FIGN	55137	broad.mit.edu	37	2	164467569	164467569	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:164467569A>G	ENST00000333129.3	-	3	1087	c.773T>C	c.(772-774)gTg>gCg	p.V258A	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	258	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCCAGACCCCACAGCAGTCTG	0.622																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(772-774)gTg>gCg		fidgetin							35.0	40.0	38.0					2																	164467569		2000	4151	6151	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467569A>G	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.773T>C	2.37:g.164467569A>G	ENSP00000333836:p.Val258Ala					FIGN_ENST00000409634.1_Intron	p.V258A	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	1087	-			258			Pro-rich.		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.773T>C	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	A	9.228	1.035006	0.19590	.	.	ENSG00000182263	ENST00000333129	T	0.49432	0.78	6.07	4.91	0.64330	.	0.148962	0.44483	D	0.000444	T	0.41096	0.1144	L	0.51422	1.61	0.54753	D	0.999988	B	0.33904	0.431	B	0.28784	0.094	T	0.23547	-1.0185	10	0.41790	T	0.15	-8.9216	13.5537	0.61747	0.87:0.13:0.0:0.0	.	258	Q5HY92	FIGN_HUMAN	A	258	ENSP00000333836:V258A	ENSP00000333836:V258A	V	-	2	0	FIGN	164175815	1.000000	0.71417	0.999000	0.59377	0.476000	0.33039	7.535000	0.82014	1.093000	0.41377	-0.316000	0.08728	GTG		0.622	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		21	45	0	0	0	1	0	21	45				
PRAMEF11	440560	broad.mit.edu	37	1	12888484	12888484	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:12888484G>C	ENST00000535591.1	-	2	235	c.40C>G	c.(40-42)Ctg>Gtg	p.L14V		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	14					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGCACCATCAGCTTCAGGGCC	0.622																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(40-42)Ctg>Gtg		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12888484G>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.40C>G	1.37:g.12888484G>C	ENSP00000439551:p.Leu14Val						p.L14V	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			2	235	-			14						Missense_Mutation	SNP	ENST00000535591.1	37	c.40C>G	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.743299	0.00675	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.05081	3.5;3.5	1.45	-0.734	0.11140	.	0.704560	0.13185	N	0.407220	T	0.02494	0.0076	N	0.05574	-0.02	0.09310	N	1	P	0.34615	0.459	B	0.36464	0.225	T	0.41840	-0.9486	10	0.10377	T	0.69	.	2.8413	0.05530	0.0:0.4789:0.3075:0.2136	.	14	O60813	PRA11_HUMAN	V	14;55;14	ENSP00000439551:L14V;ENSP00000391839:L14V	ENSP00000328783:L55V	L	-	1	2	PRAMEF11	12811071	0.041000	0.20044	0.042000	0.18584	0.009000	0.06853	0.275000	0.18698	-0.210000	0.10140	-0.814000	0.03130	CTG		0.622	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		26	52	0	0	0	1	0	26	52				
CLVS1	157807	broad.mit.edu	37	8	62212768	62212768	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr8:62212768G>A	ENST00000519846.1	+	3	854	c.382G>A	c.(382-384)Ggg>Agg	p.G128R	RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Missense_Mutation_p.G128R|RP11-787D18.1_ENST00000521801.1_RNA|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	128	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGGGTTCCCCGGGGTGCTGGA	0.483																																						ENST00000519846.1																			0				endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(382-384)Ggg>Agg		clavesin 1							45.0	47.0	46.0					8																	62212768		2203	4299	6502	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212768G>A	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.382G>A	8.37:g.62212768G>A	ENSP00000428402:p.Gly128Arg					RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Missense_Mutation_p.G128R|CLVS1_ENST00000518592.1_Intron	p.G128R			Q8IUQ0	CLVS1_HUMAN			3	854	+			128			CRAL-TRIO.		B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.382G>A	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651554	0.88056	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	D;D	0.84589	-1.87;-1.87	5.6	5.6	0.85130	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.103133	0.64402	D	0.000003	D	0.91147	0.7212	L	0.60455	1.87	0.80722	D	1	P;D	0.89917	0.951;1.0	P;D	0.80764	0.49;0.994	D	0.89899	0.4043	9	.	.	.	-6.8293	19.6296	0.95694	0.0:0.0:1.0:0.0	.	128;128	Q8IUQ0;Q8IUQ0-2	CLVS1_HUMAN;.	R	128	ENSP00000428402:G128R;ENSP00000325506:G128R	.	G	+	1	0	CLVS1	62375322	1.000000	0.71417	0.998000	0.56505	0.748000	0.42578	9.869000	0.99810	2.644000	0.89710	0.655000	0.94253	GGG		0.483	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		14	40	0	0	0	1	0	14	40				
NOX5	79400	broad.mit.edu	37	15	69329471	69329471	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr15:69329471T>C	ENST00000388866.3	+	8	1333	c.1292T>C	c.(1291-1293)tTc>tCc	p.F431S	RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000260364.5_Missense_Mutation_p.F413S|NOX5_ENST00000448182.3_Missense_Mutation_p.F385S|NOX5_ENST00000455873.3_Missense_Mutation_p.F396S|NOX5_ENST00000530406.2_Missense_Mutation_p.F403S	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	431	Ferric oxidoreductase.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						ATCTTGTTTTTCCTGGAGAAG	0.562																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1237-1239)tTc>tCc		NADPH oxidase, EF-hand calcium binding domain 5							116.0	100.0	106.0					15																	69329471		2200	4298	6498	SO:0001583	missense	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69329471T>C	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1292T>C	15.37:g.69329471T>C	ENSP00000373518:p.Phe431Ser					NOX5_ENST00000455873.3_Missense_Mutation_p.F396S|NOX5_ENST00000530406.2_Missense_Mutation_p.F403S|NOX5_ENST00000448182.3_Missense_Mutation_p.F385S|NOX5_ENST00000388866.3_Missense_Mutation_p.F431S	p.F413S			Q96PH1	NOX5_HUMAN			9	1539	+			431			Ferric oxidoreductase.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.1238T>C	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	T	13.45	2.242197	0.39598	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.94280	-2.83;-3.39;-2.83	3.69	3.69	0.42338	.	0.477496	0.20936	N	0.083019	D	0.87533	0.6201	L	0.45422	1.42	0.33734	D	0.618571	P;P;P	0.45531	0.604;0.86;0.604	B;B;B	0.35240	0.142;0.198;0.142	D	0.88302	0.2950	10	0.27785	T	0.31	-5.9468	11.2004	0.48739	0.0:0.0:0.0:1.0	.	396;431;403	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	S	396;413;431;403	ENSP00000416828:F396S;ENSP00000373518:F431S;ENSP00000432440:F403S	ENSP00000373518:F431S	F	+	2	0	NOX5	67116525	1.000000	0.71417	0.971000	0.41717	0.110000	0.19582	4.662000	0.61525	1.325000	0.45301	0.460000	0.39030	TTC		0.562	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		74	31	0	0	0	1	0	74	31				
ZNF536	9745	broad.mit.edu	37	19	31025786	31025786	+	Missense_Mutation	SNP	G	G	A	rs375973209		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:31025786G>A	ENST00000355537.3	+	3	2350	c.2203G>A	c.(2203-2205)Gtc>Atc	p.V735I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	735					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATCTGCCGGCGTCCAGCAACC	0.567																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(2203-2205)Gtc>Atc		zinc finger protein 536		G	ILE/VAL	0,4406		0,0,2203	114.0	116.0	116.0		2203	3.7	1.0	19		116	2,8598	2.2+/-6.3	0,2,4298	no	missense	ZNF536	NM_014717.1	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	735/1301	31025786	2,13004	2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31025786G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2203G>A	19.37:g.31025786G>A	ENSP00000347730:p.Val735Ile						p.V735I	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			3	2350	+	Esophageal squamous(110;0.0834)		735					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2203G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	6.232	0.411013	0.11812	0.0	2.33E-4	ENSG00000198597	ENST00000355537	T	0.08458	3.09	5.81	3.67	0.42095	.	0.273586	0.35838	N	0.002960	T	0.03959	0.0111	N	0.08118	0	0.28109	N	0.931095	B;B	0.22211	0.066;0.066	B;B	0.11329	0.006;0.006	T	0.38714	-0.9648	10	0.22109	T	0.4	-31.9961	8.5856	0.33655	0.1365:0.1276:0.7359:0.0	.	735;735	A7E228;O15090	.;ZN536_HUMAN	I	735	ENSP00000347730:V735I	ENSP00000347730:V735I	V	+	1	0	ZNF536	35717626	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	2.719000	0.47244	0.787000	0.33731	0.591000	0.81541	GTC		0.567	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		48	115	0	0	0	1	0	48	115				
FGF8	2253	broad.mit.edu	37	10	103530240	103530240	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr10:103530240G>A	ENST00000344255.3	-	6	547	c.548C>T	c.(547-549)aCg>aTg	p.T183M	FGF8_ENST00000320185.2_Missense_Mutation_p.T194M|FGF8_ENST00000346714.3_Missense_Mutation_p.T154M|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000347978.2_Missense_Mutation_p.T165M			P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	183					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in mesendoderm migration (GO:0090134)|cell proliferation in forebrain (GO:0021846)|corticotropin hormone secreting cell differentiation (GO:0060128)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral axon guidance (GO:0033563)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|forebrain neuron development (GO:0021884)|gastrulation (GO:0007369)|gonad development (GO:0008406)|heart looping (GO:0001947)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lung morphogenesis (GO:0060425)|male genitalia development (GO:0030539)|MAPK cascade (GO:0000165)|mesodermal cell migration (GO:0008078)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|midbrain-hindbrain boundary development (GO:0030917)|motor neuron axon guidance (GO:0008045)|negative regulation of cardiac muscle tissue development (GO:0055026)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate morphogenesis (GO:0001839)|neuroepithelial cell differentiation (GO:0060563)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|pallium development (GO:0021543)|patterning of blood vessels (GO:0001569)|pharyngeal system development (GO:0060037)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitosis (GO:0045840)|positive regulation of organ growth (GO:0046622)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)|signal transduction involved in regulation of gene expression (GO:0023019)|subpallium development (GO:0021544)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		GTGCTGCCGCGTCTTGGAGCC	0.642																																						ENST00000347978.2																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5						c.(493-495)aCg>aTg		fibroblast growth factor 8 (androgen-induced)							44.0	42.0	43.0					10																	103530240		2203	4300	6503	SO:0001583	missense	2253				bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr10:103530240G>A	D38752	CCDS7515.1, CCDS7516.1, CCDS7517.1, CCDS7518.1, CCDS73185.1	10q25-q26	2014-01-30			ENSG00000107831	ENSG00000107831		"""Endogenous ligands"""	3686	protein-coding gene	gene with protein product		600483				8595889	Standard	NM_033164		Approved	AIGF	uc001ktq.2	P55075	OTTHUMG00000018940	ENST00000344255.3:c.548C>T	10.37:g.103530240G>A	ENSP00000340039:p.Thr183Met					FGF8_ENST00000344255.3_Missense_Mutation_p.T183M|FGF8_ENST00000320185.2_Missense_Mutation_p.T194M|FGF8_ENST00000346714.3_Missense_Mutation_p.T154M|FGF8_ENST00000485728.1_5'UTR	p.T165M	NM_006119.4	NP_006110.1	P55075	FGF8_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	5	663	-		Colorectal(252;0.122)	183					A1A514|Q14915|Q15766	Missense_Mutation	SNP	ENST00000344255.3	37	c.494C>T	CCDS7517.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138864	0.77775	.	.	ENSG00000107831	ENST00000344255;ENST00000320185;ENST00000346714;ENST00000347978	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	3.79	3.79	0.43588	.	0.000000	0.85682	D	0.000000	D	0.96374	0.8817	M	0.93241	3.395	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.962;0.962;0.979;0.999	D	0.97712	1.0191	10	0.87932	D	0	.	15.6748	0.77307	0.0:0.0:1.0:0.0	.	154;165;194;183	P55075-2;P55075-3;P55075-4;P55075	.;.;.;FGF8_HUMAN	M	183;194;154;165	ENSP00000340039:T183M;ENSP00000321797:T194M;ENSP00000344306:T154M;ENSP00000321945:T165M	ENSP00000321797:T194M	T	-	2	0	FGF8	103520230	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.415000	0.97375	1.679000	0.50963	0.455000	0.32223	ACG		0.642	FGF8-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049999.1	NM_006119, NM_033165		3	19	0	0	0	1	0	3	19				
CCDC170	80129	broad.mit.edu	37	6	151857535	151857535	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr6:151857535G>A	ENST00000239374.7	+	2	239	c.140G>A	c.(139-141)aGt>aAt	p.S47N	CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000367290.5_Missense_Mutation_p.S47N	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	47																	AATGCTCGAAGTGAACTTGCA	0.443																																						ENST00000367290.5																			0											c.(139-141)aGt>aAt		coiled-coil domain containing 170							102.0	97.0	99.0					6																	151857535		1908	4124	6032	SO:0001583	missense	80129							g.chr6:151857535G>A	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.140G>A	6.37:g.151857535G>A	ENSP00000239374:p.Ser47Asn					CCDC170_ENST00000239374.7_Missense_Mutation_p.S47N|CCDC170_ENST00000544131.1_3'UTR	p.S47N			Q8IYT3	CF097_HUMAN			2	229	+			47					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.140G>A	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943237	0.53079	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.12255	2.71;2.7	5.95	5.08	0.68730	.	0.117487	0.64402	D	0.000003	T	0.27765	0.0683	M	0.76838	2.35	0.37627	D	0.921513	D	0.76494	0.999	D	0.68943	0.961	T	0.08911	-1.0699	10	0.41790	T	0.15	-11.4337	16.6481	0.85181	0.0:0.0:0.8691:0.1309	.	47	Q8IYT3	CF097_HUMAN	N	47	ENSP00000239374:S47N;ENSP00000356259:S47N	ENSP00000239374:S47N	S	+	2	0	C6orf97	151899228	1.000000	0.71417	0.607000	0.28956	0.165000	0.22458	7.159000	0.77483	1.512000	0.48834	-0.175000	0.13238	AGT		0.443	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		9	32	0	0	0	1	0	9	32				
STXBP1	6812	broad.mit.edu	37	9	130427537	130427537	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr9:130427537A>T	ENST00000373299.1	+	8	705	c.590A>T	c.(589-591)gAc>gTc	p.D197V	STXBP1_ENST00000373302.3_Missense_Mutation_p.D197V	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	197					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GAATACAAGGACAATGCCCTG	0.562																																						ENST00000373302.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.(589-591)gAc>gTc		syntaxin binding protein 1							224.0	185.0	198.0					9																	130427537		2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130427537A>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.590A>T	9.37:g.130427537A>T	ENSP00000362396:p.Asp197Val					STXBP1_ENST00000373299.1_Missense_Mutation_p.D197V	p.D197V	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN			8	729	+			197					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.590A>T	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	A	15.74	2.923593	0.52653	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000373299	T;T	0.76186	-1.0;-1.0	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.61060	0.2317	N	0.19112	0.55	0.80722	D	1	B;B	0.24186	0.099;0.081	B;B	0.21708	0.035;0.036	T	0.59888	-0.7369	10	0.46703	T	0.11	-1.8994	13.2805	0.60212	1.0:0.0:0.0:0.0	.	197;197	P61764;P61764-2	STXB1_HUMAN;.	V	151;197;197	ENSP00000362399:D197V;ENSP00000362396:D197V	ENSP00000362396:D197V	D	+	2	0	STXBP1	129467358	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	8.704000	0.91351	2.031000	0.59945	0.459000	0.35465	GAC		0.562	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		55	119	0	0	0	1	0	55	119				
RYR1	6261	broad.mit.edu	37	19	38990452	38990452	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:38990452G>A	ENST00000359596.3	+	44	7205	c.7205G>A	c.(7204-7206)cGg>cAg	p.R2402Q	RYR1_ENST00000360985.3_Missense_Mutation_p.R2402Q|RYR1_ENST00000355481.4_Missense_Mutation_p.R2402Q			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2402	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGGGACCGGCGGCGCGAGCAG	0.706																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(7204-7206)cGg>cAg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						17.0	19.0	18.0					19																	38990452		2196	4296	6492	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38990452G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7205G>A	19.37:g.38990452G>A	ENSP00000352608:p.Arg2402Gln					RYR1_ENST00000360985.3_Missense_Mutation_p.R2402Q|RYR1_ENST00000359596.3_Missense_Mutation_p.R2402Q	p.R2402Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		44	7336	+	all_cancers(60;7.91e-06)		2402			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.7205G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.358188	0.61403	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97553	-4.43;-4.43;-4.43	3.95	3.95	0.45737	.	0.000000	0.64402	U	0.000010	D	0.97198	0.9084	L	0.43646	1.37	0.44492	D	0.997436	D;D	0.71674	0.998;0.985	D;P	0.75484	0.986;0.539	D	0.96558	0.9413	10	0.35671	T	0.21	.	14.985	0.71342	0.0:0.0:1.0:0.0	.	2402;2402	P21817-2;P21817	.;RYR1_HUMAN	Q	2402	ENSP00000352608:R2402Q;ENSP00000347667:R2402Q;ENSP00000354254:R2402Q	ENSP00000347667:R2402Q	R	+	2	0	RYR1	43682292	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	5.758000	0.68776	2.041000	0.60428	0.289000	0.19496	CGG		0.706	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			11	13	0	0	0	1	0	11	13				
TAPT1-AS1	202020	broad.mit.edu	37	4	16258140	16258140	+	RNA	SNP	A	A	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr4:16258140A>C	ENST00000570786.1	+	0	495				TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA	NR_027696.1				TAPT1 antisense RNA 1 (head to head)																		ATTTCCGCGGAACTTACAGGT	0.607																																						ENST00000570786.1																			0																																																			202020							g.chr4:16258140A>C			4p15.32	2012-11-06	2012-11-06		ENSG00000263327	ENSG00000263327		"""Long non-coding RNAs"""	26832	non-coding RNA	RNA, long non-coding							Standard	NR_027696		Approved	FLJ39653			OTTHUMG00000160321		4.37:g.16258140A>C						TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA		NR_027696.1						0	495	+									RNA	SNP	ENST00000570786.1	37																																																																																						0.607	TAPT1-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000439459.1	NR_027696		4	12	0	0	0	1	0	4	12				
NCOA6	23054	broad.mit.edu	37	20	33315172	33315172	+	Silent	SNP	T	T	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr20:33315172T>A	ENST00000374796.2	-	15	8609	c.6039A>T	c.(6037-6039)ccA>ccT	p.P2013P	NCOA6_ENST00000359003.2_Silent_p.P2013P			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	2013	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTCTTCGGCCTGGGATTTTGG	0.498																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(6037-6039)ccA>ccT		nuclear receptor coactivator 6							143.0	131.0	135.0					20																	33315172		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33315172T>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.6039A>T	20.37:g.33315172T>A						NCOA6_ENST00000359003.2_Silent_p.P2013P	p.P2013P			Q14686	NCOA6_HUMAN			15	8609	-			2013			EP300/CRSP3-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.6039A>T	CCDS13241.1																																																																																				0.498	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		24	62	0	0	0	1	0	24	62				
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077658	32077658	+	RNA	SNP	G	G	A	rs556521963		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:32077658G>A	ENST00000354689.6	+	0	273				RP11-1166P10.6_ENST00000566806.1_RNA					immunoglobulin heavy variable 3/OR16-9 (non-functional)																		CCGAGGACACGGCTGTGTATT	0.547																																						ENST00000354689.6																			0																																																			28307							g.chr16:32077658G>A	Z29606		16p11.2	2013-12-06	2008-09-11		ENSG00000270472	ENSG00000270472		"""Immunoglobulins / IGH orphons"""	5644	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-9"""				Standard			Approved	IGHV3/OR16-9			OTTHUMG00000184753		16.37:g.32077658G>A						RP11-1166P10.6_ENST00000566806.1_RNA								0	273	+									RNA	SNP	ENST00000354689.6	37																																																																																						0.547	IGHV3OR16-9-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432530.2			75	309	0	0	0	1	0	75	309				
ANO4	121601	broad.mit.edu	37	12	101477583	101477583	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:101477583G>A	ENST00000392977.3	+	16	1733	c.1523G>A	c.(1522-1524)gGa>gAa	p.G508E	ANO4_ENST00000392979.3_Missense_Mutation_p.G473E|ANO4_ENST00000299222.9_Intron|ANO4_ENST00000550015.1_Intron			Q32M45	ANO4_HUMAN	anoctamin 4	508					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TCTGCATCTGGAATATTTTTT	0.308										HNSCC(74;0.22)																												ENST00000392979.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(1417-1419)gGa>gAa		anoctamin 4							52.0	54.0	53.0					12																	101477583		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101477583G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1523G>A	12.37:g.101477583G>A	ENSP00000376703:p.Gly508Glu	HNSCC(74;0.22)				ANO4_ENST00000392977.3_Missense_Mutation_p.G508E|ANO4_ENST00000299222.9_Intron|ANO4_ENST00000550015.1_Intron	p.G473E	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			15	1779	+			508					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1418G>A		.	.	.	.	.	.	.	.	.	.	G	29.6	5.020488	0.93462	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.62788	0.0;0.0	5.78	5.78	0.91487	.	0.131276	0.49916	D	0.000130	T	0.75034	0.3795	L	0.54323	1.7	0.80722	D	1	P;D	0.54207	0.95;0.965	P;P	0.60012	0.867;0.791	T	0.74526	-0.3636	10	0.62326	D	0.03	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	508;473	Q32M45;Q32M45-2	ANO4_HUMAN;.	E	473;508	ENSP00000376705:G473E;ENSP00000376703:G508E	ENSP00000376703:G508E	G	+	2	0	ANO4	100001714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.894000	0.99253	0.655000	0.94253	GGA		0.308	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		18	19	0	0	0	1	0	18	19				
MICALCL	84953	broad.mit.edu	37	11	12316275	12316275	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:12316275C>T	ENST00000256186.2	+	3	1588	c.1297C>T	c.(1297-1299)Cct>Tct	p.P433S		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	433					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GAAGGTGCTGCCTGAAGATAG	0.557																																						ENST00000256186.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1297-1299)Cct>Tct		MICAL C-terminal like							65.0	69.0	68.0					11																	12316275		1956	4136	6092	SO:0001583	missense	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316275C>T	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1297C>T	11.37:g.12316275C>T	ENSP00000256186:p.Pro433Ser						p.P433S	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1588	+			433					Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	c.1297C>T	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	C	9.775	1.173766	0.21704	.	.	ENSG00000133808	ENST00000256186	T	0.10382	2.88	4.97	1.71	0.24356	.	0.376800	0.19611	N	0.110158	T	0.07999	0.0200	L	0.50333	1.59	0.09310	N	1	P	0.42692	0.787	B	0.36186	0.219	T	0.28713	-1.0035	10	0.18710	T	0.47	.	7.0961	0.25311	0.3517:0.4774:0.1708:0.0	.	433	Q6ZW33	MICLK_HUMAN	S	433	ENSP00000256186:P433S	ENSP00000256186:P433S	P	+	1	0	MICALCL	12272851	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.026000	0.13599	0.712000	0.32039	-0.515000	0.04445	CCT		0.557	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		70	79	0	0	0	1	0	70	79				
PLK1	5347	broad.mit.edu	37	16	23702254	23702254	+	IGR	SNP	C	C	T	rs201663472		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:23702254C>T	ENST00000300093.4	+	0	2227				CTD-2196E14.5_ENST00000566143.1_RNA|ERN2_ENST00000457008.2_Silent_p.T841T|ERN2_ENST00000256797.4_Silent_p.T941T	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TGGCTCGGTGCGTGTGGAGGA	0.642																																					Colon(12;240 564 27038 33155)	ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(2821-2823)acG>acA		endoplasmic reticulum to nucleus signaling 2							53.0	53.0	53.0					16																	23702254		2197	4300	6497	SO:0001628	intergenic_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23702254C>T		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984		16.37:g.23702254C>T						ERN2_ENST00000457008.2_Silent_p.T841T	p.T941T	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	22	2991	-			893					Q15153|Q99746	Silent	SNP	ENST00000300093.4	37	c.2823G>A	CCDS10616.1																																																																																				0.642	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		17	43	0	0	0	1	0	17	43				
ZAN	7455	broad.mit.edu	37	7	100370987	100370987	+	RNA	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:100370987G>A	ENST00000348028.3	+	0	5670				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TAAACAACCCGAGGGACTGCC	0.577																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							56.0	62.0	60.0					7																	100370987		2014	4189	6203			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100370987G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100370987G>A						ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5653	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.577	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		12	43	0	0	0	1	0	12	43				
THUMPD3	25917	broad.mit.edu	37	3	9412933	9412933	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr3:9412933G>T	ENST00000345094.3	+	4	854	c.520G>T	c.(520-522)Gag>Tag	p.E174*	THUMPD3_ENST00000452837.2_Nonsense_Mutation_p.E174*|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Nonsense_Mutation_p.E174*	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	174	THUMP. {ECO:0000255|PROSITE- ProRule:PRU00529}.					cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TGTTAAAAAAGAGTTCACTAG	0.308																																						ENST00000345094.3																			0				NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(520-522)Gag>Tag		THUMP domain containing 3							60.0	67.0	65.0					3																	9412933		2203	4300	6503	SO:0001587	stop_gained	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9412933G>T	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.520G>T	3.37:g.9412933G>T	ENSP00000339532:p.Glu174*					THUMPD3_ENST00000452837.2_Nonsense_Mutation_p.E174*|THUMPD3_ENST00000515662.2_Nonsense_Mutation_p.E174*|SETD5-AS1_ENST00000468186.1_RNA	p.E174*	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	4	854	+	Medulloblastoma(99;0.227)		174			THUMP.		Q9H8V6|Q9NVC1|Q9UFS3	Nonsense_Mutation	SNP	ENST00000345094.3	37	c.520G>T	CCDS2573.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	38|38|38	6.773732|6.773732|6.773732	0.97829|0.97829|0.97829	.|.|.	.|.|.	ENSG00000134077|ENSG00000134077|ENSG00000134077	ENST00000452837;ENST00000345094;ENST00000515662|ENST00000441127|ENST00000416603	.|.|.	.|.|.	.|.|.	5.94|5.94|5.94	2.88|2.88|2.88	0.33553|0.33553|0.33553	.|.|.	1.218270|.|.	0.05611|.|.	N|.|.	0.578204|.|.	.|T|T	.|0.53997|0.53997	.|0.1831|0.1831	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.62690|0.62690	.|-0.6801|-0.6801	.|4|3	0.17369|0.23891|.	T|T|.	0.5|0.37|.	-12.5937|-12.5937|-12.5937	11.4979|11.4979|11.4979	0.50419|0.50419|0.50419	0.0751:0.2523:0.6726:0.0|0.0751:0.2523:0.6726:0.0|0.0751:0.2523:0.6726:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|N|I	174|30|6	.|.|.	ENSP00000339532:E174X|ENSP00000396359:K30N|.	E|K|R	+|+|+	1|3|2	0|2|0	THUMPD3|THUMPD3|THUMPD3	9387933|9387933|9387933	0.007000|0.007000|0.007000	0.16637|0.16637|0.16637	0.443000|0.443000|0.443000	0.26883|0.26883|0.26883	0.020000|0.020000|0.020000	0.10135|0.10135|0.10135	1.286000|1.286000|1.286000	0.33273|0.33273|0.33273	0.787000|0.787000|0.787000	0.33731|0.33731|0.33731	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAG|AAG|AGA		0.308	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		12	15	1	0	1.08611e-07	1	1.18748e-07	12	15				
DNAH7	56171	broad.mit.edu	37	2	196825057	196825057	+	Silent	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:196825057A>G	ENST00000312428.6	-	18	2918	c.2818T>C	c.(2818-2820)Ttg>Ctg	p.L940L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	940	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGGTCATCCAACAACATCTGA	0.338																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(2818-2820)Ttg>Ctg		dynein, axonemal, heavy chain 7							120.0	119.0	119.0					2																	196825057		1856	4095	5951	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825057A>G	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2818T>C	2.37:g.196825057A>G							p.L940L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			18	2918	-			940			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.2818T>C	CCDS42794.1																																																																																				0.338	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		29	55	0	0	0	1	0	29	55				
LRRC14	9684	broad.mit.edu	37	8	145742569	145742569	+	5'Flank	SNP	T	T	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr8:145742569T>A	ENST00000292524.1	+	0	0				LRRC14_ENST00000529022.1_5'Flank|RECQL4_ENST00000428558.2_Silent_p.P73P|RECQL4_ENST00000532237.1_5'UTR	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGCGGGGCTCTGGCGCCTGCA	0.711																																						ENST00000428558.2										"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(217-219)ccA>ccT	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							7.0	9.0	8.0					8																	145742569		1847	4059	5906	SO:0001631	upstream_gene_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145742569T>A	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145742569T>A	Exception_encountered					RECQL4_ENST00000532237.1_5'UTR	p.P73P	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	260	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		73					A8K0A8|D3DWM8	Silent	SNP	ENST00000292524.1	37	c.219A>T	CCDS6432.1																																																																																				0.711	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		8	11	0	0	0	1	0	8	11				
DNAI1	27019	broad.mit.edu	37	9	34485161	34485161	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr9:34485161G>A	ENST00000242317.4	+	3	274	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	DNAI1_ENST00000488369.1_3'UTR|DNAI1_ENST00000545019.1_Missense_Mutation_p.V35M	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	35					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AGGGACTGAAGTGGGAGAAGG	0.498									Kartagener syndrome																													ENST00000242317.4																			0				autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(103-105)Gtg>Atg		dynein, axonemal, intermediate chain 1							163.0	145.0	151.0					9																	34485161		2203	4300	6503	SO:0001583	missense	27019	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34485161G>A	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.103G>A	9.37:g.34485161G>A	ENSP00000242317:p.Val35Met					DNAI1_ENST00000488369.1_3'UTR|DNAI1_ENST00000545019.1_Missense_Mutation_p.V35M	p.V35M	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	3	274	+	all_epithelial(49;0.244)		35					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.103G>A	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712005	0.68730	.	.	ENSG00000122735	ENST00000396929;ENST00000242317;ENST00000437363;ENST00000545019	T;T;T	0.75938	-0.98;0.37;1.35	5.82	3.94	0.45596	.	0.385543	0.27130	N	0.020792	T	0.77274	0.4106	L	0.42245	1.32	0.27979	N	0.936095	D;B	0.76494	0.999;0.295	D;B	0.70227	0.968;0.105	T	0.67197	-0.5731	10	0.37606	T	0.19	.	7.0308	0.24967	0.0869:0.0:0.7412:0.1719	.	35;35	B7Z7U1;Q9UI46	.;DNAI1_HUMAN	M	24;35;24;35	ENSP00000242317:V35M;ENSP00000395396:V24M;ENSP00000443667:V35M	ENSP00000242317:V35M	V	+	1	0	DNAI1	34475161	1.000000	0.71417	0.994000	0.49952	0.955000	0.61496	1.827000	0.39102	0.760000	0.33108	0.650000	0.86243	GTG		0.498	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			29	43	0	0	0	1	0	29	43				
MKLN1	4289	broad.mit.edu	37	7	131012647	131012647	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs371026594		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:131012647G>A	ENST00000352689.6	+	0	29				MKLN1-AS2_ENST00000429067.1_RNA|MKLN1-AS2_ENST00000454515.1_RNA|MKLN1-AS2_ENST00000416220.1_RNA|MKLN1_ENST00000421797.2_Intron|MKLN1_ENST00000429546.1_Intron	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs						signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					CGGCCGCTACGGTGCTGACAA	0.721																																						ENST00000352689.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28								muskelin 1, intracellular mediator containing kelch motifs		G	,	1,4387		0,1,2193	20.0	22.0	21.0		,	4.6	1.0	7		21	0,8574		0,0,4287	no	intron,utr-5	MKLN1	NM_001145354.1,NM_013255.4	,	0,1,6480	AA,AG,GG		0.0,0.0228,0.0077	,	,	131012647	1,12961	2194	4287	6481			4289				signal transduction	cytoplasm	protein binding	g.chr7:131012647G>A	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.-12G>A	7.37:g.131012647G>A						MKLN1_ENST00000421797.2_Intron|MKLN1_ENST00000429546.1_Intron		NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			0	29	+	Melanoma(18;0.162)							A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Translation_Start_Site	SNP	ENST00000352689.6	37		CCDS34754.1																																																																																				0.721	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		22	32	0	0	0	1	0	22	32				
PKHD1	5314	broad.mit.edu	37	6	51913367	51913367	+	Missense_Mutation	SNP	G	G	A	rs564240823	byFrequency	TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr6:51913367G>A	ENST00000371117.3	-	23	2605	c.2330C>T	c.(2329-2331)aCg>aTg	p.T777M	PKHD1_ENST00000340994.4_Missense_Mutation_p.T777M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	777					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.T777M(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCTCTGTGTCGTCACCAGGAC	0.527													G|||	2	0.000399361	0.0	0.0	5008	,	,		20120	0.0		0.0	False		,,,				2504	0.002					ENST00000371117.3																			1	Substitution - Missense(1)	p.T777M(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(2329-2331)aCg>aTg		polycystic kidney and hepatic disease 1 (autosomal recessive)							135.0	113.0	121.0					6																	51913367		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51913367G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2330C>T	6.37:g.51913367G>A	ENSP00000360158:p.Thr777Met					PKHD1_ENST00000340994.4_Missense_Mutation_p.T777M	p.T777M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			23	2605	-	Lung NSC(77;0.0605)		777					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.2330C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737046	0.30774	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88354	-2.17;-2.37	5.65	2.86	0.33363	.	0.412660	0.24970	N	0.034159	T	0.72771	0.3502	M	0.70903	2.155	0.09310	N	1	P;P	0.47253	0.811;0.892	B;B	0.31442	0.11;0.13	T	0.66340	-0.5948	10	0.56958	D	0.05	.	6.7701	0.23589	0.154:0.1446:0.7014:0.0	.	777;777	P08F94-2;P08F94	.;PKHD1_HUMAN	M	777	ENSP00000360158:T777M;ENSP00000341097:T777M	ENSP00000341097:T777M	T	-	2	0	PKHD1	52021326	0.641000	0.27251	0.001000	0.08648	0.001000	0.01503	1.201000	0.32259	0.310000	0.22990	-0.119000	0.15052	ACG		0.527	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		21	49	0	0	0	1	0	21	49				
ZNF578	147660	broad.mit.edu	37	19	53014034	53014034	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:53014034G>C	ENST00000421239.2	+	6	644	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AAAAATCAAAGAGTTGATGGG	0.378																																						ENST00000421239.2																			0											c.(400-402)Gag>Cag		zinc finger protein 578							135.0	138.0	137.0					19																	53014034		2203	4300	6503	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014034G>C	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.400G>C	19.37:g.53014034G>C	ENSP00000459216:p.Glu134Gln						p.E134Q	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	644	+			213					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.400G>C	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	1.800	-0.477382	0.04414	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.42	-1.5	0.08691	.	.	.	.	.	T	0.25531	0.0621	L	0.33485	1.01	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.21415	-1.0246	7	.	.	.	.	5.1344	0.14926	0.6741:0.0:0.3259:0.0	.	134	G3V4F6	.	Q	134	.	.	E	+	1	0	ZNF578	57705846	0.000000	0.05858	0.002000	0.10522	0.031000	0.12232	-0.270000	0.08584	-0.355000	0.08199	0.134000	0.15878	GAG		0.378	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		53	125	0	0	0	1	0	53	125				
CATSPERB	79820	broad.mit.edu	37	14	92189429	92189429	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr14:92189429A>T	ENST00000256343.3	-	4	429	c.273T>A	c.(271-273)agT>agA	p.S91R		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	91					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CATTATATGTACTATTCATGA	0.348																																						ENST00000256343.3																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(271-273)agT>agA		catsper channel auxiliary subunit beta							144.0	138.0	140.0					14																	92189429		2203	4300	6503	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92189429A>T	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.273T>A	14.37:g.92189429A>T	ENSP00000256343:p.Ser91Arg						p.S91R	NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN			4	429	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	91					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.273T>A	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	A	15.34	2.803280	0.50315	.	.	ENSG00000133962	ENST00000256343;ENST00000554560	T	0.52295	0.67	5.68	-1.82	0.07857	.	0.000000	0.64402	D	0.000010	T	0.56717	0.2004	L	0.53249	1.67	0.30793	N	0.740711	D	0.89917	1.0	D	0.91635	0.999	T	0.59273	-0.7485	10	0.59425	D	0.04	-25.1999	10.0969	0.42480	0.5004:0.0:0.4996:0.0	.	91	Q9H7T0	CTSRB_HUMAN	R	91	ENSP00000256343:S91R	ENSP00000256343:S91R	S	-	3	2	CATSPERB	91259182	0.968000	0.33430	0.953000	0.39169	0.171000	0.22731	-0.214000	0.09292	-0.107000	0.12088	-0.274000	0.10170	AGT		0.348	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		10	60	0	0	0	1	0	10	60				
MUC7	4589	broad.mit.edu	37	4	71347156	71347156	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr4:71347156C>A	ENST00000304887.5	+	3	885	c.695C>A	c.(694-696)cCa>cAa	p.P232Q	MUC7_ENST00000456088.1_Missense_Mutation_p.P232Q|MUC7_ENST00000413702.1_Missense_Mutation_p.P232Q	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	232	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P232Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCAGCTCCACCAGAGACCACA	0.587																																						ENST00000413702.1																			1	Substitution - Missense(1)	p.P232Q(1)	lung(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(694-696)cCa>cAa		mucin 7, secreted							381.0	317.0	339.0					4																	71347156		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347156C>A	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.695C>A	4.37:g.71347156C>A	ENSP00000302021:p.Pro232Gln					MUC7_ENST00000304887.5_Missense_Mutation_p.P232Q|MUC7_ENST00000456088.1_Missense_Mutation_p.P232Q	p.P232Q	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	983	+			232			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.695C>A	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	6.122	0.390757	0.11581	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.50548	0.74;0.74;0.74	1.29	-0.745	0.11098	.	.	.	.	.	T	0.27098	0.0664	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.20706	-1.0267	8	.	.	.	.	6.8805	0.24170	0.4789:0.521:0.0:0.0	.	232	Q8TAX7	MUC7_HUMAN	Q	232	ENSP00000407422:P232Q;ENSP00000400585:P232Q;ENSP00000302021:P232Q	.	P	+	2	0	MUC7	71381745	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.368000	0.07543	-0.310000	0.08766	-0.127000	0.14921	CCA		0.587	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		7	183	1	0	0.00621372	1	0.00636906	7	183				
CAND1	55832	broad.mit.edu	37	12	67691443	67691443	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:67691443G>A	ENST00000545606.1	+	5	1185	c.748G>A	c.(748-750)Ggt>Agt	p.G250S		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	250					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TCATAGAATAGGTAAGAAATC	0.299																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.e5+1		cullin-associated and neddylation-dissociated 1							53.0	54.0	54.0					12																	67691443		2203	4300	6503	SO:0001630	splice_region_variant	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67691443G>A		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.748+1G>A	12.37:g.67691443G>A							p.G250_splice	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	5	1185	+			250					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Splice_Site	SNP	ENST00000545606.1	37	c.748_splice	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	G	34	5.318385	0.95682	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047	T	0.30981	1.51	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55369	0.1916	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.49579	-0.8925	9	.	.	.	-19.8493	20.0953	0.97838	0.0:0.0:1.0:0.0	.	250	Q86VP6	CAND1_HUMAN	S	250;250;92	ENSP00000442318:G250S	.	G	+	1	0	CAND1	65977710	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.750000	0.98875	2.767000	0.95098	0.655000	0.94253	GGT		0.299	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448	Missense_Mutation	19	26	0	0	0	1	0	19	26				
DMBT1	1755	broad.mit.edu	37	10	124390760	124390760	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr10:124390760C>A	ENST00000338354.3	+	46	6028	c.5922C>A	c.(5920-5922)aaC>aaA	p.N1974K	DMBT1_ENST00000368956.2_Missense_Mutation_p.N1346K|DMBT1_ENST00000330163.4_Missense_Mutation_p.N1346K|DMBT1_ENST00000359586.6_Missense_Mutation_p.N694K|DMBT1_ENST00000344338.3_Missense_Mutation_p.N1964K|DMBT1_ENST00000368955.3_Missense_Mutation_p.N1964K|DMBT1_ENST00000368909.3_Missense_Mutation_p.N1974K			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1974	SRCR 14. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCTCCCACAACTGTAATCATC	0.537																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(5920-5922)aaC>aaA		deleted in malignant brain tumors 1							150.0	146.0	148.0					10																	124390760		2058	4203	6261	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124390760C>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5922C>A	10.37:g.124390760C>A	ENSP00000342210:p.Asn1974Lys					DMBT1_ENST00000330163.4_Missense_Mutation_p.N1346K|DMBT1_ENST00000344338.3_Missense_Mutation_p.N1964K|DMBT1_ENST00000368955.3_Missense_Mutation_p.N1964K|DMBT1_ENST00000368956.2_Missense_Mutation_p.N1346K|DMBT1_ENST00000338354.3_Missense_Mutation_p.N1974K|DMBT1_ENST00000359586.6_Missense_Mutation_p.N694K	p.N1974K	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			46	6028	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1974			SRCR 14.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.5922C>A		.	.	.	.	.	.	.	.	.	.	C	17.56	3.420995	0.62622	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.56	-1.03	0.10102	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.66187	0.2764	M	0.90369	3.11	0.34830	D	0.739576	D;D;D;D;D;D;B	0.89917	0.99;0.999;0.998;1.0;0.998;0.99;0.145	D;D;P;D;D;D;B	0.91635	0.968;0.978;0.887;0.999;0.921;0.987;0.387	T	0.72354	-0.4319	9	0.52906	T	0.07	.	11.5442	0.50683	0.0:0.6839:0.0:0.3161	.	694;1954;1223;2103;1346;1964;1974	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	K	1974;2103;1974;1974;1974;1974;1346;1964;1346;1346;1974;1964;1346;120;694	ENSP00000342210:N1974K;ENSP00000343175:N1964K;ENSP00000327747:N1346K;ENSP00000357905:N1974K;ENSP00000357951:N1964K;ENSP00000357952:N1346K;ENSP00000352593:N694K	ENSP00000331522:N1346K	N	+	3	2	DMBT1	124380750	0.457000	0.25752	0.021000	0.16686	0.617000	0.37484	-0.007000	0.12810	-0.511000	0.06514	0.650000	0.86243	AAC		0.537	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		52	82	1	0	3.07002e-29	1	3.67506e-29	52	82				
CPNE8	144402	broad.mit.edu	37	12	39047819	39047819	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:39047819C>T	ENST00000331366.5	-	20	1656	c.1560G>A	c.(1558-1560)atG>atA	p.M520I	CPNE8_ENST00000546603.1_5'UTR|CPNE8_ENST00000360449.3_Missense_Mutation_p.M508I|CPNE8_ENST00000538596.2_Missense_Mutation_p.M189I	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	520						extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CCAATCTAGCCATGCTCAGTA	0.453																																						ENST00000331366.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1558-1560)atG>atA		copine VIII							91.0	83.0	86.0					12																	39047819		2203	4300	6503	SO:0001583	missense	144402							g.chr12:39047819C>T	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1560G>A	12.37:g.39047819C>T	ENSP00000329748:p.Met520Ile					CPNE8_ENST00000538596.2_Missense_Mutation_p.M189I|CPNE8_ENST00000546603.1_5'UTR|CPNE8_ENST00000360449.3_Missense_Mutation_p.M508I	p.M520I	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN			20	1656	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	520					Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	c.1560G>A	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848558	0.51164	.	.	ENSG00000139117	ENST00000331366;ENST00000538596;ENST00000360449	T;T;T	0.25250	1.81;1.97;1.81	4.82	4.82	0.62117	.	0.043420	0.85682	D	0.000000	T	0.29423	0.0733	L	0.39245	1.2	0.80722	D	1	P	0.37233	0.588	B	0.43225	0.412	T	0.03306	-1.1050	10	0.37606	T	0.19	-25.0588	17.0471	0.86507	0.0:1.0:0.0:0.0	.	520	Q86YQ8	CPNE8_HUMAN	I	520;189;508	ENSP00000329748:M520I;ENSP00000439237:M189I;ENSP00000353633:M508I	ENSP00000329748:M520I	M	-	3	0	CPNE8	37334086	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.165000	0.77544	2.372000	0.80975	0.655000	0.94253	ATG		0.453	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		3	43	0	0	0	1	0	3	43				
TTN	7273	broad.mit.edu	37	2	179587962	179587962	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:179587962G>T	ENST00000591111.1	-	73	21045	c.20821C>A	c.(20821-20823)Cca>Aca	p.P6941T	TTN_ENST00000342992.6_Missense_Mutation_p.P6014T|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P7258T|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12525	Ig-like 51.				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)			ACAGAAATTGGAAGTGTTCCA	0.373																																						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.(21772-21774)Cca>Aca		titin							118.0	110.0	113.0					2																	179587962		1871	4091	5962	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179587962G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.20821C>A	2.37:g.179587962G>T	ENSP00000465570:p.Pro6941Thr					TTN_ENST00000342992.6_Missense_Mutation_p.P6014T|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P6941T	p.P7258T	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)		75	21996	-			6941			Ig-like 54.		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.21772C>A		.	.	.	.	.	.	.	.	.	.	G	8.212	0.800512	0.16397	.	.	ENSG00000155657	ENST00000342992	T	0.65916	-0.18	5.76	5.76	0.90799	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63827	0.2544	L	0.58101	1.795	0.80722	D	1	B	0.25772	0.134	B	0.24848	0.056	T	0.62101	-0.6925	9	0.87932	D	0	.	20.3431	0.98773	0.0:0.0:1.0:0.0	.	6941	Q8WZ42	TITIN_HUMAN	T	6014	ENSP00000343764:P6014T	ENSP00000343764:P6014T	P	-	1	0	TTN	179296207	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	4.107000	0.57811	2.880000	0.98712	0.650000	0.86243	CCA		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	26	1	0	6.72482e-11	1	7.55391e-11	14	26				
PPP2R5E	5529	broad.mit.edu	37	14	63851189	63851189	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr14:63851189T>C	ENST00000337537.3	-	12	1777	c.1175A>G	c.(1174-1176)tAt>tGt	p.Y392C	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.Y316C|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.Y392C	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	392					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		TGAAATCCTATAAAGGCTGGA	0.388																																						ENST00000337537.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15						c.(1174-1176)tAt>tGt		protein phosphatase 2, regulatory subunit B', epsilon isoform							124.0	132.0	129.0					14																	63851189		2203	4300	6503	SO:0001583	missense	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:63851189T>C	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.1175A>G	14.37:g.63851189T>C	ENSP00000337641:p.Tyr392Cys					PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.Y316C|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.Y392C	p.Y392C	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	12	1777	-			392					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	ENST00000337537.3	37	c.1175A>G	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.507652	0.85282	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.07	5.07	0.68467	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86447	0.5935	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	0.987;1.0	P;D	0.97110	0.862;1.0	D	0.90431	0.4424	9	0.87932	D	0	-6.1381	15.1143	0.72388	0.0:0.0:0.0:1.0	.	392;392	B7ZKK9;Q16537	.;2A5E_HUMAN	C	392;392;316	.	ENSP00000337641:Y392C	Y	-	2	0	PPP2R5E	62920942	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.020000	0.59435	0.533000	0.62120	TAT		0.388	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246		25	31	0	0	0	1	0	25	31				
ITGAL	3683	broad.mit.edu	37	16	30492809	30492809	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:30492809C>G	ENST00000356798.6	+	7	806	c.626C>G	c.(625-627)tCa>tGa	p.S209*	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Nonsense_Mutation_p.S126*|RP11-297C4.2_ENST00000569459.1_RNA|RNU7-61P_ENST00000515897.1_RNA|RP11-297C4.3_ENST00000562525.1_RNA|ITGAL_ENST00000454514.2_3'UTR	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	209	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TTTGATTTCTCAGATTATGTT	0.393																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(625-627)tCa>tGa		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						110.0	93.0	99.0					16																	30492809		2197	4300	6497	SO:0001587	stop_gained	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30492809C>G		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.626C>G	16.37:g.30492809C>G	ENSP00000349252:p.Ser209*					ITGAL_ENST00000358164.5_Nonsense_Mutation_p.S126*|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_3'UTR|ITGAL_ENST00000433423.2_Intron	p.S209*	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			7	806	+			209			VWFA.		O43746|Q45H73|Q96HB1|Q9UBC8	Nonsense_Mutation	SNP	ENST00000356798.6	37	c.626C>G	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330259	0.41297	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	.	.	.	5.64	-2.61	0.06171	.	1.317180	0.05472	N	0.553165	.	.	.	.	.	.	0.33723	D	0.617283	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	3.5576	0.07870	0.1393:0.4703:0.143:0.2475	.	.	.	.	X	209;126	.	ENSP00000349252:S209X	S	+	2	0	ITGAL	30400310	0.100000	0.21855	0.957000	0.39632	0.034000	0.12701	-0.326000	0.07965	-0.399000	0.07668	-0.335000	0.08231	TCA		0.393	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			10	23	0	0	0	1	0	10	23				
WNT4	54361	broad.mit.edu	37	1	22447766	22447767	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:22447766_22447767insTC	ENST00000290167.6	-	4	568_569	c.525_526insGA	c.(523-528)agaagcfs	p.S176fs	WNT4_ENST00000542383.1_Frame_Shift_Ins_p.S121fs	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	176					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GCCCCCTTGCTTCTCTCCCGCA	0.609																																						ENST00000290167.6																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8						c.(523-528)aggcaafs		wingless-type MMTV integration site family, member 4																																				SO:0001589	frameshift_variant	54361				adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity	g.chr1:22447766_22447767insTC	AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.524_525dupGA	1.37:g.22447771_22447772dupTC	ENSP00000290167:p.Ser176fs					WNT4_ENST00000542383.1_Frame_Shift_Ins_p.Q121fs	p.Q176fs	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	4	568_569	-		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	176					B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Frame_Shift_Ins	INS	ENST00000290167.6	37	c.525_526insGA	CCDS223.1																																																																																				0.609	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008088.2			7	47						7	47	---	---	---	---
KCNN3	3782	broad.mit.edu	37	1	154842331	154842333	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:154842331_154842333delTGC	ENST00000271915.4	-	1	423_425	c.108_110delGCA	c.(106-111)cagcaa>caa	p.36_37QQ>Q	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	36	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	ctgctgctgttgctgctgctgct	0.67																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(106-111)caa>ca		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001651	inframe_deletion	3782					integral to membrane	calmodulin binding	g.chr1:154842331_154842333delTGC	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.108_110delGCA	1.37:g.154842340_154842342delTGC	ENSP00000271915:p.Gln41del						p.QQ40del	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	423_425	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		40			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Del	DEL	ENST00000271915.4	37	c.108_110delGCA	CCDS30880.1																																																																																				0.670	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		4	8						4	8	---	---	---	---
LINC00882	100302640	broad.mit.edu	37	3	106825978	106825979	+	lincRNA	INS	-	-	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr3:106825978_106825979insA	ENST00000484698.1	-	0	295									long intergenic non-protein coding RNA 882																		TGGCCATGCACGGACCCCACTC	0.653																																						ENST00000484698.1																			0																																																			100302640							g.chr3:106825978_106825979insA			3q13.12	2014-06-03			ENSG00000242759	ENSG00000242759		"""Long non-coding RNAs"""	48568	non-coding RNA	RNA, long non-coding						24886442	Standard	NR_028303		Approved				OTTHUMG00000159196		3.37:g.106825978_106825979insA														0	295	-									RNA	INS	ENST00000484698.1	37																																																																																						0.653	LINC00882-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353788.1			2	4						2	4	---	---	---	---
TMEM161B	153396	broad.mit.edu	37	5	87502911	87502911	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr5:87502911delA	ENST00000296595.6	-	6	657	c.533delT	c.(532-534)ttcfs	p.F179fs	TMEM161B_ENST00000509387.1_Frame_Shift_Del_p.F52fs|TMEM161B_ENST00000512429.1_Frame_Shift_Del_p.F168fs|TMEM161B_ENST00000511218.1_5'UTR|TMEM161B_ENST00000514135.1_Frame_Shift_Del_p.F179fs|TMEM161B_ENST00000506536.1_5'UTR	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	179						integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		TTTGACAAAGAAAAAAAATCC	0.308																																						ENST00000296595.6																			0				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20						c.(532-534)tcfs		transmembrane protein 161B							69.0	71.0	70.0					5																	87502911		2203	4297	6500	SO:0001589	frameshift_variant	153396					integral to membrane		g.chr5:87502911delA	BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.533delT	5.37:g.87502911delA	ENSP00000296595:p.Phe179fs					TMEM161B_ENST00000511218.1_5'UTR|TMEM161B_ENST00000514135.1_Frame_Shift_Del_p.F179fs|TMEM161B_ENST00000509387.1_Frame_Shift_Del_p.F52fs|TMEM161B_ENST00000506536.1_5'UTR|TMEM161B_ENST00000512429.1_Frame_Shift_Del_p.F168fs	p.F179fs	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)	6	657	-		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)	179					Q5CZH7|Q6UWQ6	Frame_Shift_Del	DEL	ENST00000296595.6	37	c.533delT	CCDS4065.1																																																																																				0.308	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354		16	9						16	9	---	---	---	---
HLA-B	3106	broad.mit.edu	37	6	31323359	31323360	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr6:31323359_31323360insT	ENST00000412585.2	-	4	657_658	c.629_630insA	c.(628-630)aagfs	p.K210fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	210	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCACGTGTGTCTTTGGGGGGTC	0.584									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000412585.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						c.(628-630)aacfs		major histocompatibility complex, class I, B																																				SO:0001589	frameshift_variant	3106	Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	;Lichen Sclerosis, Familial				g.chr6:31323359_31323360insT	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.630dupA	6.37:g.31323362_31323362dupT	ENSP00000399168:p.Lys210fs						p.N210fs	NM_005514.6	NP_005505.2					4	657_658	-								Q29764	Frame_Shift_Ins	INS	ENST00000412585.2	37	c.629_630insA	CCDS34394.1																																																																																				0.584	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		52	146						52	146	---	---	---	---
HDAC2	3066	broad.mit.edu	37	6	114292110	114292112	+	5'UTR	DEL	CTG	CTG	-			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr6:114292110_114292112delCTG	ENST00000519065.1	-	0	337_339				RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000520891.1_RNA|RP3-399L15.3_ENST00000436876.2_RNA|HDAC2_ENST00000519108.1_5'Flank|RP3-399L15.3_ENST00000520554.1_RNA|HDAC2_ENST00000398283.2_In_Frame_Del_p.S81del|RP3-399L15.3_ENST00000449620.2_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000522844.1_RNA|RP3-399L15.3_ENST00000521888.1_RNA			Q92769	HDAC2_HUMAN	histone deacetylase 2						ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S81R(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GCTCCTCCTCctgctgctgctgc	0.685																																						ENST00000398283.2																			1	Substitution - Missense(1)	p.S81R(1)	prostate(1)	biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(241-246)agg>ag		histone deacetylase 2	Vorinostat(DB02546)																																			SO:0001623	5_prime_UTR_variant	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114292110_114292112delCTG	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.-40CAG>-	6.37:g.114292119_114292121delCTG						HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA|HDAC2_ENST00000519065.1_5'UTR|RP3-399L15.3_ENST00000436876.2_RNA	p.SR81del	NM_001527.3	NP_001518.3	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	1	247_249	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	0			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	In_Frame_Del	DEL	ENST00000519065.1	37	c.243_245delCAG	CCDS43493.2																																																																																				0.685	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			3	5						3	5	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	67680137	67680138	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr10:67680137_67680138insT	ENST00000433211.2	-	18	2812_2813	c.2638_2639insA	c.(2638-2640)atcfs	p.I880fs	CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Frame_Shift_Ins_p.I880fs	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CAATGGATGGATTTTTTTCTTT	0.411																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(2638-2640)ccafs		catenin (cadherin-associated protein), alpha 3			,	0,4264		0,0,2132					,	5.9	1.0			137	1,8251		0,1,4125	no	frameshift,frameshift	CTNNA3	NM_013266.2,NM_001127384.1	,	0,1,6257	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12515				SO:0001589	frameshift_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67680137_67680138insT	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2639dupA	10.37:g.67680144_67680144dupT	ENSP00000389714:p.Ile880fs					CTNNA3_ENST00000373735.1_Frame_Shift_Ins_p.P219fs|CTNNA3_ENST00000373744.4_Frame_Shift_Ins_p.P880fs	p.P880fs	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			18	2812_2813	-			880						Frame_Shift_Ins	INS	ENST00000433211.2	37	c.2638_2639insA	CCDS7269.1																																																																																				0.411	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		7	83						7	83	---	---	---	---
LZTS2	84445	broad.mit.edu	37	10	102766754	102766754	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr10:102766754delC	ENST00000370220.1	+	4	4902	c.1839delC	c.(1837-1839)tacfs	p.Y613fs	LZTS2_ENST00000370223.3_Frame_Shift_Del_p.Y613fs					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		TGATCCGCTACCAGAAGCAGC	0.672																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1837-1839)tafs		leucine zipper, putative tumor suppressor 2							41.0	22.0	29.0					10																	102766754		2172	4255	6427	SO:0001589	frameshift_variant	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102766754delC	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1839delC	10.37:g.102766754delC	ENSP00000359240:p.Tyr613fs					LZTS2_ENST00000370223.3_Frame_Shift_Del_p.Y613fs	p.Y613fs			Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	4	4902	+			613			Sufficient for interaction with CTNNB1.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).			Frame_Shift_Del	DEL	ENST00000370220.1	37	c.1839delC	CCDS7507.1																																																																																				0.672	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		2	4						2	4	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3843540	3843541	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:3843540_3843541insT	ENST00000262367.5	-	4	1871_1872	c.1062_1063insA	c.(1060-1065)atacagfs	p.Q355fs	CREBBP_ENST00000382070.3_Frame_Shift_Ins_p.Q355fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	355	Interaction with SRCAP.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Q355*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGCTGCTGCTGTATCAGTTTGC	0.49			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		1	Substitution - Nonsense(1)	p.Q355*(1)	urinary_tract(1)	NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(1060-1065)atagcafs		CREB binding protein																																				SO:0001589	frameshift_variant	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3843540_3843541insT	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1063dupA	16.37:g.3843541_3843541dupT	ENSP00000262367:p.Gln355fs					CREBBP_ENST00000382070.3_Frame_Shift_Ins_p.A355fs	p.A355fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	4	1871_1872	-		Ovarian(90;0.0266)	355			Interaction with SRCAP.		D3DUC9|O00147|Q16376|Q4LE28	Frame_Shift_Ins	INS	ENST00000262367.5	37	c.1062_1063insA	CCDS10509.1																																																																																				0.490	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		37	38						37	38	---	---	---	---
RP5-991G20.1	0	broad.mit.edu	37	16	72763863	72763864	+	RNA	INS	-	-	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:72763863_72763864insA	ENST00000563328.2	+	0	164																											TTCAGCGGTCCAAAACAAAAAA	0.441																																						ENST00000563328.2																			0																																																			0							g.chr16:72763863_72763864insA																													16.37:g.72763867_72763867dupA														0	164	+									RNA	INS	ENST00000563328.2	37																																																																																						0.441	RP5-991G20.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000421937.2			5	6						5	6	---	---	---	---
MIS12	79003	broad.mit.edu	37	17	5392615	5392616	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:5392615_5392616insA	ENST00000381165.3	+	3	986_987	c.433_434insA	c.(433-435)caafs	p.Q145fs	MIS12_ENST00000573759.1_Frame_Shift_Ins_p.Q145fs|DERL2_ENST00000571968.1_5'Flank	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1			MIS12 kinetochore complex component											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						ATTAGAAGAGCAAAAAATTGTT	0.386																																						ENST00000381165.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						c.(433-435)aaafs		MIS12 kinetochore complex component																																				SO:0001589	frameshift_variant	79003				cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr17:5392615_5392616insA	AL136906	CCDS11074.1	17p13.3	2013-07-03	2013-07-03		ENSG00000167842	ENSG00000167842			24967	protein-coding gene	gene with protein product		609178	"""MIS12, MIND kinetochore complex component, homolog (yeast)"", ""MIS12, MIND kinetochore complex component, homolog (S. pombe)"""			11230166, 12515822	Standard	NM_001258217		Approved	MGC2488, hMIS12, KNTC2AP, MTW1	uc031qyj.1	Q9H081	OTTHUMG00000102042	ENST00000381165.3:c.439dupA	17.37:g.5392621_5392621dupA	ENSP00000370557:p.Gln145fs					MIS12_ENST00000573759.1_Frame_Shift_Ins_p.K145fs	p.K145fs	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1	Q9H081	MIS12_HUMAN			3	986_987	+			145						Frame_Shift_Ins	INS	ENST00000381165.3	37	c.433_434insA	CCDS11074.1																																																																																				0.386	MIS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219827.1	NM_024039		28	97						28	97	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31021616	31021616	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr20:31021616delA	ENST00000375687.4	+	12	2039	c.1615delA	c.(1615-1617)aagfs	p.K539fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.K534fs	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	539	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCCCGAAAAGAAGCCCCGGCT	0.517			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(1615-1617)agfs		additional sex combs like 1 (Drosophila)							95.0	105.0	102.0					20																	31021616		2203	4300	6503	SO:0001589	frameshift_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31021616delA	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1615delA	20.37:g.31021616delA	ENSP00000364839:p.Lys539fs					ASXL1_ENST00000306058.5_Frame_Shift_Del_p.K534fs	p.K539fs	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			12	2039	+			539					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Frame_Shift_Del	DEL	ENST00000375687.4	37	c.1615delA	CCDS13201.1																																																																																				0.517	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		88	177						88	177	---	---	---	---
