#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
LINC00521	256369	broad.mit.edu	37	14	94464527	94464527	+	RNA	SNP	A	A	C			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr14:94464527A>C	ENST00000444118.1	+	0	207					NR_024182.1		Q8NCU1	CN048_HUMAN	long intergenic non-protein coding RNA 521																		AATCCTGGTGACAAGGAAGGG	0.612																																						ENST00000444118.1																			0																				89.0	75.0	80.0					14																	94464527		2203	4300	6503			256369							g.chr14:94464527A>C	BI463117		14q32.12	2012-10-12	2011-11-29	2011-11-29	ENSG00000175699	ENSG00000175699		"""Long non-coding RNAs"""	19860	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 48"""	C14orf48			Standard	NR_024182		Approved		uc001ycg.1	Q8NCU1	OTTHUMG00000156974		14.37:g.94464527A>C								NR_024182.1						0	207	+								Q8N7S1	RNA	SNP	ENST00000444118.1	37																																																																																						0.612	LINC00521-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000346916.1			12	27	0	0	0	1	0	12	27				
ANKMY2	57037	broad.mit.edu	37	7	16666772	16666772	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr7:16666772T>A	ENST00000306999.2	-	3	407	c.164A>T	c.(163-165)tAt>tTt	p.Y55F	ANKMY2_ENST00000421746.1_5'UTR	NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	55						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTTTCCTTTATATGCTGCATG	0.353																																						ENST00000306999.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(163-165)tAt>tTt		ankyrin repeat and MYND domain containing 2							92.0	80.0	84.0					7																	16666772		2203	4300	6503	SO:0001583	missense	57037					cilium	zinc ion binding	g.chr7:16666772T>A	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.164A>T	7.37:g.16666772T>A	ENSP00000303570:p.Tyr55Phe						p.Y55F	NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	3	407	-	Lung NSC(10;0.103)|all_lung(11;0.204)		55					A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	ENST00000306999.2	37	c.164A>T	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	T	17.00	3.276524	0.59758	.	.	ENSG00000106524	ENST00000306999	T	0.63913	-0.07	5.73	5.73	0.89815	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.54498	0.1862	N	0.25245	0.725	0.80722	D	1	P	0.48162	0.906	P	0.45946	0.498	T	0.54655	-0.8261	10	0.33940	T	0.23	-1.0392	16.0337	0.80603	0.0:0.0:0.0:1.0	.	55	Q8IV38	ANKY2_HUMAN	F	55	ENSP00000303570:Y55F	ENSP00000303570:Y55F	Y	-	2	0	ANKMY2	16633297	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.892000	0.69790	2.189000	0.69895	0.528000	0.53228	TAT		0.353	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		10	25	0	0	0	1	0	10	25				
MYLK2	85366	broad.mit.edu	37	20	30419606	30419606	+	Missense_Mutation	SNP	G	G	A	rs183224373		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr20:30419606G>A	ENST00000375994.2	+	10	1798	c.1525G>A	c.(1525-1527)Gta>Ata	p.V509I	MYLK2_ENST00000375985.4_Missense_Mutation_p.V509I|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	509	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			CTTTGAGGCCGTATCAGACGA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		21232	0.001		0.0	False		,,,				2504	0.0					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.(1525-1527)Gta>Ata		myosin light chain kinase 2							127.0	110.0	116.0					20																	30419606		2203	4300	6503	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.chr20:30419606G>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.1525G>A	20.37:g.30419606G>A	ENSP00000365162:p.Val509Ile					MYLK2_ENST00000375985.4_Missense_Mutation_p.V509I|MYLK2_ENST00000468730.1_3'UTR	p.V509I			Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		10	1798	+			509			Protein kinase.		Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.1525G>A	CCDS13191.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.623	0.115808	0.08831	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.39056	1.1;1.1	4.88	3.86	0.44501	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.16428	0.0395	N	0.03000	-0.44	0.36071	D	0.842131	P	0.36483	0.555	B	0.33890	0.172	T	0.16424	-1.0403	9	0.07482	T	0.82	.	12.1661	0.54131	0.0968:0.0:0.9032:0.0	.	509	Q9H1R3	MYLK2_HUMAN	I	509	ENSP00000365162:V509I;ENSP00000365152:V509I	ENSP00000365152:V509I	V	+	1	0	MYLK2	29883267	0.903000	0.30736	0.954000	0.39281	0.340000	0.28889	1.415000	0.34748	2.546000	0.85860	0.643000	0.83706	GTA		0.522	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		30	91	0	0	0	1	0	30	91				
MALAT1	378938	broad.mit.edu	37	11	65272779	65272779	+	lincRNA	SNP	T	T	C			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr11:65272779T>C	ENST00000534336.1	+	0	7547					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TCACCTGATTTTTATTAGTAA	0.458																																						ENST00000534336.1																			0																				40.0	39.0	39.0					11																	65272779		874	1988	2862			378938							g.chr11:65272779T>C	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65272779T>C								NR_002819.2						0	7547	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.458	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		11	29	0	0	0	1	0	11	29				
CATSPER2	117155	broad.mit.edu	37	15	43924439	43924439	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr15:43924439G>T	ENST00000321596.5	-	12	1718	c.1519C>A	c.(1519-1521)Cag>Aag	p.Q507K	CATSPER2_ENST00000354127.4_Missense_Mutation_p.Q505K|CATSPER2_ENST00000381761.1_Missense_Mutation_p.Q511K|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000396879.1_Missense_Mutation_p.Q505K|CATSPER2_ENST00000355438.2_3'UTR			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	507					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGGTTATACTGAAGCTTTTCT	0.443																																						ENST00000396879.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(1513-1515)Cag>Aag		cation channel, sperm associated 2							87.0	83.0	84.0					15																	43924439		2199	4297	6496	SO:0001583	missense	117155				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	g.chr15:43924439G>T	AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.1519C>A	15.37:g.43924439G>T	ENSP00000321463:p.Gln507Lys					CATSPER2_ENST00000381761.1_Missense_Mutation_p.Q511K|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000321596.5_Missense_Mutation_p.Q507K|CATSPER2_ENST00000354127.4_Missense_Mutation_p.Q505K|CATSPER2_ENST00000355438.2_3'UTR	p.Q505K			Q96P56	CTSR2_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	13	1625	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	507					Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	ENST00000321596.5	37	c.1513C>A	CCDS10099.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596072	0.66332	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127	D;D;D;D	0.98649	-5.01;-5.05;-4.99;-5.01	4.43	3.51	0.40186	.	0.229969	0.30269	N	0.010013	D	0.98741	0.9577	M	0.77616	2.38	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.80764	0.971;0.994	D	0.99136	1.0854	10	0.87932	D	0	.	8.2994	0.32006	0.1087:0.0:0.8913:0.0	.	511;507	F8W9H2;Q96P56	.;CTSR2_HUMAN	K	505;507;511;507;505	ENSP00000380088:Q505K;ENSP00000371180:Q511K;ENSP00000321463:Q507K;ENSP00000339137:Q505K	ENSP00000299989:Q507K	Q	-	1	0	CATSPER2	41711731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.992000	0.56980	1.210000	0.43336	0.644000	0.83932	CAG		0.443	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020		6	148	1	0	0.0215528	1	0.0219482	6	148				
CPS1	1373	broad.mit.edu	37	2	211539661	211539661	+	Silent	SNP	A	A	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr2:211539661A>G	ENST00000233072.5	+	35	4333	c.4137A>G	c.(4135-4137)gaA>gaG	p.E1379E	CPS1_ENST00000451903.2_Silent_p.E928E|CPS1_ENST00000430249.2_Silent_p.E1385E	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1379					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GTGTGGCTGAACAATTACACA	0.343																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(4135-4137)gaA>gaG		carbamoyl-phosphate synthase 1, mitochondrial							140.0	133.0	136.0					2																	211539661		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211539661A>G	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.4137A>G	2.37:g.211539661A>G						CPS1_ENST00000430249.2_Silent_p.E1385E|CPS1_ENST00000451903.2_Silent_p.E928E	p.E1379E	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	35	4333	+			1379					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.4137A>G	CCDS2393.1																																																																																				0.343	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			26	85	0	0	0	1	0	26	85				
CHD5	26038	broad.mit.edu	37	1	6195309	6195309	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:6195309C>T	ENST00000262450.3	-	18	2950	c.2851G>A	c.(2851-2853)Gag>Aag	p.E951K	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGGCTCAGCTCCACCCGGACA	0.632																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(2851-2853)Gag>Aag		chromodomain helicase DNA binding protein 5							76.0	72.0	74.0					1																	6195309		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6195309C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2851G>A	1.37:g.6195309C>T	ENSP00000262450:p.Glu951Lys					CHD5_ENST00000378021.1_5'UTR	p.E951K	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	18	2950	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	951					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.2851G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	33	5.260513	0.95368	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	T	0.76060	-0.99	5.04	5.04	0.67666	SNF2-related (1);	0.000000	0.64402	D	0.000001	T	0.82102	0.4964	L	0.39566	1.225	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.84084	0.0386	10	0.87932	D	0	-45.9172	18.7612	0.91851	0.0:1.0:0.0:0.0	.	951	Q8TDI0	CHD5_HUMAN	K	951;467;359;359	ENSP00000262450:E951K	ENSP00000262450:E951K	E	-	1	0	CHD5	6117896	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.637000	0.83313	2.509000	0.84616	0.561000	0.74099	GAG		0.632	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		10	89	0	0	0	1	0	10	89				
ZNF668	79759	broad.mit.edu	37	16	31075550	31075550	+	Silent	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr16:31075550G>A	ENST00000538906.1	-	2	1015	c.231C>T	c.(229-231)tcC>tcT	p.S77S	ZNF668_ENST00000300849.4_Silent_p.S77S|ZNF668_ENST00000564456.1_5'Flank|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000426488.2_Silent_p.S100S|ZNF668_ENST00000535577.1_Silent_p.S77S|ZNF668_ENST00000539836.3_Silent_p.S100S|ZNF668_ENST00000394983.2_Silent_p.S77S	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	77					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCTTGGCCGCGGAGCCTGACA	0.652																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(229-231)tcC>tcT		zinc finger protein 668							83.0	75.0	78.0					16																	31075550		2197	4300	6497	SO:0001819	synonymous_variant	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31075550G>A		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.231C>T	16.37:g.31075550G>A						ZNF668_ENST00000539836.3_Silent_p.S100S|ZNF668_ENST00000394983.2_Silent_p.S77S|ZNF668_ENST00000300849.4_Silent_p.S77S|ZNF668_ENST00000535577.1_Silent_p.S77S|ZNF668_ENST00000426488.2_Silent_p.S100S	p.S77S	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			2	1015	-			77					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Silent	SNP	ENST00000538906.1	37	c.231C>T	CCDS10701.1																																																																																				0.652	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		27	54	0	0	0	1	0	27	54				
NR2F1	7025	broad.mit.edu	37	5	92923742	92923742	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:92923742G>A	ENST00000327111.3	+	2	2270	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	195					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GCTGCTGCGCGCCGAGCCCTA	0.652																																						ENST00000327111.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(583-585)Gcc>Acc		nuclear receptor subfamily 2, group F, member 1							64.0	63.0	63.0					5																	92923742		2203	4300	6503	SO:0001583	missense	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92923742G>A	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.583G>A	5.37:g.92923742G>A	ENSP00000325819:p.Ala195Thr						p.A195T	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	2	2270	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	195						Missense_Mutation	SNP	ENST00000327111.3	37	c.583G>A	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	G	33	5.268041	0.95429	.	.	ENSG00000175745	ENST00000327111	T	0.58940	0.3	4.5	4.5	0.54988	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.79281	0.4419	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80555	-0.1330	10	0.33141	T	0.24	.	17.383	0.87409	0.0:0.0:1.0:0.0	.	195	P10589	COT1_HUMAN	T	195	ENSP00000325819:A195T	ENSP00000325819:A195T	A	+	1	0	NR2F1	92949498	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	9.620000	0.98373	2.316000	0.78162	0.462000	0.41574	GCC		0.652	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		45	69	0	0	0	1	0	45	69				
GPR35	2859	broad.mit.edu	37	2	241570087	241570087	+	Missense_Mutation	SNP	C	C	T	rs377190882		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr2:241570087C>T	ENST00000319838.5	+	6	1660	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	GPR35_ENST00000403859.1_Missense_Mutation_p.R240C|GPR35_ENST00000438013.2_Missense_Mutation_p.R271C|GPR35_ENST00000407714.1_Missense_Mutation_p.R240C|GPR35_ENST00000430267.1_Missense_Mutation_p.R240C	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	240					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GCTGACAGTGCGCCTCGCAGT	0.667																																						ENST00000319838.5																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17						c.(718-720)Cgc>Tgc		G protein-coupled receptor 35							99.0	82.0	88.0					2																	241570087		2203	4300	6503	SO:0001583	missense	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241570087C>T		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.718C>T	2.37:g.241570087C>T	ENSP00000322731:p.Arg240Cys					GPR35_ENST00000438013.2_Missense_Mutation_p.R271C|GPR35_ENST00000407714.1_Missense_Mutation_p.R240C|GPR35_ENST00000403859.1_Missense_Mutation_p.R240C|GPR35_ENST00000430267.1_Missense_Mutation_p.R240C	p.R240C	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	6	1660	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	240					J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.718C>T	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923480	0.52653	.	.	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7	3.64	-0.654	0.11443	GPCR, rhodopsin-like superfamily (1);	1.214260	0.05886	U	0.627409	T	0.79155	0.4398	L	0.58810	1.83	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68483	0.95;0.958;0.943	T	0.64952	-0.6286	10	0.56958	D	0.05	-3.0998	8.1112	0.30916	0.0:0.6526:0.0:0.3474	.	325;271;240	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	C	240;240;271;240;240	ENSP00000322731:R240C;ENSP00000385140:R240C;ENSP00000415890:R271C;ENSP00000384263:R240C;ENSP00000411788:R240C	ENSP00000322731:R240C	R	+	1	0	GPR35	241218760	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-0.668000	0.05268	-0.235000	0.09767	0.305000	0.20034	CGC		0.667	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		4	65	0	0	0	1	0	4	65				
TLR10	81793	broad.mit.edu	37	4	38776528	38776528	+	Silent	SNP	A	A	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr4:38776528A>G	ENST00000308973.4	-	4	1289	c.684T>C	c.(682-684)ttT>ttC	p.F228F	TLR10_ENST00000361424.2_Silent_p.F228F|TLR10_ENST00000508334.1_Silent_p.F228F|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000506111.1_Silent_p.F228F	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	228					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CATAACTTACAAATTGGCTTT	0.323																																						ENST00000308973.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						c.(682-684)ttT>ttC		toll-like receptor 10							63.0	61.0	62.0					4																	38776528		2202	4300	6502	SO:0001819	synonymous_variant	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38776528A>G	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.684T>C	4.37:g.38776528A>G						TLR10_ENST00000361424.2_Silent_p.F228F|TLR10_ENST00000506111.1_Silent_p.F228F|TLR10_ENST00000508334.1_Silent_p.F228F	p.F228F	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN			4	1289	-			228					A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Silent	SNP	ENST00000308973.4	37	c.684T>C	CCDS3445.1																																																																																				0.323	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			12	21	0	0	0	1	0	12	21				
CCL23	6368	broad.mit.edu	37	17	34340898	34340898	+	Splice_Site	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr17:34340898C>T	ENST00000591423.1	-	3	201	c.137G>A	c.(136-138)aGa>aAa	p.R46K	CCL23_ENST00000293280.2_Missense_Mutation_p.G63E|RP11-104J23.2_ENST00000590149.1_lincRNA|RP11-104J23.1_ENST00000588294.1_RNA	NM_145898.1	NP_665905.1	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	46					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|negative regulation of C-C chemokine binding (GO:2001264)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGCATGGAATCCTGCAGCATG	0.527																																						ENST00000293280.2																			0				large_intestine(2)|liver(1)|lung(2)|prostate(1)	6						c.(187-189)gGa>gAa		chemokine (C-C motif) ligand 23	Treprostinil(DB00374)						158.0	116.0	130.0					17																	34340898		2203	4300	6503	SO:0001630	splice_region_variant	6368				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding	g.chr17:34340898C>T	U58913	CCDS11305.1, CCDS59282.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000167236	ENSG00000274736		"""Chemokine ligands"", ""Endogenous ligands"""	10622	protein-coding gene	gene with protein product		602494	"""small inducible cytokine subfamily A (Cys-Cys), member 23"""	SCYA23		9104803, 10409433	Standard	XR_429910		Approved	Ckb-8, MPIF-1, MIP-3, CKb8	uc002hks.1	P55773	OTTHUMG00000188409	ENST00000591423.1:c.137-1G>A	17.37:g.34340898C>T						CCL23_ENST00000591423.1_Splice_Site_p.R46_splice	p.G63E	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	258	-		Ovarian(249;0.17)	46					B7ZKQ3|O00174|O75950|Q52LD4	Missense_Mutation	SNP	ENST00000591423.1	37	c.188G>A	CCDS59282.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884164	0.51908	.	.	ENSG00000167236	ENST00000293280	T	0.14022	2.54	3.55	3.55	0.40652	.	.	.	.	.	T	0.19167	0.0460	N	0.14661	0.345	0.09310	N	0.999996	D	0.89917	1.0	D	0.75484	0.986	T	0.14117	-1.0484	9	0.39692	T	0.17	.	10.7916	0.46436	0.0:1.0:0.0:0.0	.	63	P55773-2	.	E	63	ENSP00000293280:G63E	ENSP00000293280:G63E	G	-	2	0	CCL23	31365011	0.050000	0.20438	0.234000	0.24042	0.030000	0.12068	0.770000	0.26618	1.954000	0.56735	0.511000	0.50034	GGA		0.527	CCL23-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450228.1	NM_005064, NM_145898	Missense_Mutation	20	44	0	0	0	1	0	20	44				
MUC4	4585	broad.mit.edu	37	3	195515925	195515925	+	Silent	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:195515925C>T	ENST00000463781.3	-	2	2985	c.2526G>A	c.(2524-2526)caG>caA	p.Q842Q	MUC4_ENST00000475231.1_Silent_p.Q842Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	847	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CGGTTGTTGACTGGGTTGTGT	0.562																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2524-2526)caG>caA		mucin 4, cell surface associated							67.0	74.0	72.0					3																	195515925		2128	4227	6355	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515925C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2526G>A	3.37:g.195515925C>T						MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.Q842Q|MUC4_ENST00000346145.4_Intron	p.Q842Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	2985	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	847			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.2526G>A	CCDS54700.1																																																																																				0.562	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		22	91	0	0	0	1	0	22	91				
PCDH15	65217	broad.mit.edu	37	10	55582841	55582841	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr10:55582841C>A	ENST00000320301.6	-	33	5039	c.4645G>T	c.(4645-4647)Gta>Tta	p.V1549L	PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.V1526L|PCDH15_ENST00000437009.1_Missense_Mutation_p.V1480L|PCDH15_ENST00000395432.2_Missense_Mutation_p.V1509L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.V1546L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.V1551L|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1549					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AATGGGTCTACAAAATCTGTT	0.413										HNSCC(58;0.16)																												ENST00000361849.3																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4651-4653)Gta>Tta		protocadherin-related 15							86.0	91.0	89.0					10																	55582841		2203	4298	6501	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582841C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4645G>T	10.37:g.55582841C>A	ENSP00000322604:p.Val1549Leu	HNSCC(58;0.16)				PCDH15_ENST00000395432.2_Missense_Mutation_p.V1509L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.V1549L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.V1546L|PCDH15_ENST00000395433.1_Missense_Mutation_p.V1526L|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.V1480L	p.V1551L	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN			34	5045	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1549					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4651G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	1.484	-0.556520	0.03967	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.53206	0.65;0.63;0.66;0.64;0.64;0.68	6.02	-0.637	0.11504	.	.	.	.	.	T	0.10465	0.0256	N	0.00483	-1.445	0.09310	N	1	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B;B;B	0.08055	0.002;0.001;0.002;0.001;0.001;0.001;0.003;0.001	T	0.33369	-0.9871	9	0.02654	T	1	.	1.5572	0.02587	0.172:0.3536:0.2559:0.2184	.	1526;1549;1551;1556;1480;1509;1546;1549	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	L	1509;1551;1526;1549;1546;1556;1480	ENSP00000378820:V1509L;ENSP00000354950:V1551L;ENSP00000378821:V1526L;ENSP00000322604:V1549L;ENSP00000378818:V1546L;ENSP00000412628:V1480L	ENSP00000322604:V1549L	V	-	1	0	PCDH15	55252847	0.000000	0.05858	0.004000	0.12327	0.313000	0.28021	0.104000	0.15313	0.105000	0.17753	0.650000	0.86243	GTA		0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		52	84	1	0	9.52127e-25	1	1.1009e-24	52	84				
DGKQ	1609	broad.mit.edu	37	4	955594	955594	+	Missense_Mutation	SNP	C	C	G	rs537203372		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr4:955594C>G	ENST00000273814.3	-	20	2417	c.2344G>C	c.(2344-2346)Gtg>Ctg	p.V782L	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	782					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGCAGCCCCACCCGCACGTAC	0.647																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(2344-2346)Gtg>Ctg		diacylglycerol kinase, theta 110kDa							75.0	77.0	77.0					4																	955594		2203	4300	6503	SO:0001583	missense	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:955594C>G	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2344G>C	4.37:g.955594C>G	ENSP00000273814:p.Val782Leu						p.V782L	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		20	2417	-			782					Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.2344G>C	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689336	0.68271	.	.	ENSG00000145214	ENST00000273814	T	0.28255	1.62	5.27	5.27	0.74061	Diacylglycerol kinase, accessory domain (2);	0.305106	0.35151	N	0.003420	T	0.17959	0.0431	N	0.02202	-0.64	0.54753	D	0.999981	B;P	0.45428	0.116;0.858	B;P	0.45099	0.179;0.469	T	0.21177	-1.0253	10	0.31617	T	0.26	.	16.3568	0.83237	0.0:1.0:0.0:0.0	.	782;782	E9KL49;P52824	.;DGKQ_HUMAN	L	782	ENSP00000273814:V782L	ENSP00000273814:V782L	V	-	1	0	DGKQ	945594	0.693000	0.27728	0.930000	0.37139	0.291000	0.27294	5.257000	0.65473	2.452000	0.82932	0.556000	0.70494	GTG		0.647	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			25	57	0	0	0	1	0	25	57				
ESF1	51575	broad.mit.edu	37	20	13756720	13756720	+	Silent	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr20:13756720C>T	ENST00000202816.1	-	3	941	c.834G>A	c.(832-834)gaG>gaA	p.E278E		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	278	Asp-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						catcttcatcctcctcttcat	0.408																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(832-834)gaG>gaA		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							253.0	193.0	213.0					20																	13756720		2203	4300	6503	SO:0001819	synonymous_variant	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13756720C>T		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.834G>A	20.37:g.13756720C>T							p.E278E	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			3	941	-			278			Asp-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Silent	SNP	ENST00000202816.1	37	c.834G>A	CCDS13117.1																																																																																				0.408	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		24	91	0	0	0	1	0	24	91				
GRIN2B	2904	broad.mit.edu	37	12	13764725	13764725	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr12:13764725C>T	ENST00000609686.1	-	8	1923	c.1714G>A	c.(1714-1716)Gtg>Atg	p.V572M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	572					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AAGACAGCCACGGCTGAGACG	0.537																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(1714-1716)Gtg>Atg		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						134.0	120.0	125.0					12																	13764725		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13764725C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1714G>A	12.37:g.13764725C>T	ENSP00000477455:p.Val572Met						p.V572M	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			8	1923	-			572					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.1714G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117332	0.37339	.	.	ENSG00000150086	ENST00000279593	T	0.57436	0.4	6.09	6.09	0.99107	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.118515	0.64402	D	0.000010	T	0.52158	0.1717	L	0.49778	1.585	0.53005	D	0.999965	B	0.23854	0.092	B	0.23150	0.044	T	0.39623	-0.9605	10	0.36615	T	0.2	.	20.6949	0.99706	0.0:1.0:0.0:0.0	.	572	Q13224	NMDE2_HUMAN	M	572	ENSP00000279593:V572M	ENSP00000279593:V572M	V	-	1	0	GRIN2B	13655992	0.984000	0.35163	1.000000	0.80357	0.987000	0.75469	2.426000	0.44731	2.899000	0.99337	0.655000	0.94253	GTG		0.537	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			30	40	0	0	0	1	0	30	40				
DCST2	127579	broad.mit.edu	37	1	154991185	154991185	+	Silent	SNP	G	G	C			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:154991185G>C	ENST00000368424.3	-	15	2215	c.2157C>G	c.(2155-2157)ccC>ccG	p.P719P		NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	719	Pro-rich.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTTCAGGTAAGGGCTGCTGCC	0.607																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(2155-2157)ccC>ccG		DC-STAMP domain containing 2							66.0	79.0	75.0					1																	154991185		2123	4259	6382	SO:0001819	synonymous_variant	127579					integral to membrane		g.chr1:154991185G>C	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.2157C>G	1.37:g.154991185G>C							p.P719P	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		15	2215	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		719			Pro-rich.		Q2M2R2|Q8N810|Q96M03	Silent	SNP	ENST00000368424.3	37	c.2157C>G	CCDS1082.2																																																																																				0.607	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		20	52	0	0	0	1	0	20	52				
DCP1A	55802	broad.mit.edu	37	3	53322224	53322224	+	Silent	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:53322224C>T	ENST00000607628.1	-	9	1642	c.1533G>A	c.(1531-1533)caG>caA	p.Q511Q	RN7SL821P_ENST00000579907.1_RNA|Y_RNA_ENST00000384175.1_RNA|DCP1A_ENST00000606822.1_Silent_p.Q473Q|DCP1A_ENST00000294241.6_Silent_p.Q509Q|DCP1A_ENST00000480258.1_5'UTR	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	509					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		TTGTAACTGTCTGCTGGAAAA	0.507																																						ENST00000607628.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1531-1533)caG>caA		decapping mRNA 1A							65.0	64.0	64.0					3																	53322224		1895	4113	6008	SO:0001819	synonymous_variant	55802				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding	g.chr3:53322224C>T	AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"""DCP1 decapping enzyme homolog A (S. cerevisiae)"""				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.1533G>A	3.37:g.53322224C>T						DCP1A_ENST00000606822.1_Silent_p.Q473Q|DCP1A_ENST00000294241.6_Silent_p.Q509Q|DCP1A_ENST00000480258.1_5'UTR	p.Q511Q	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)	9	1642	-			509					B4DHN9|U3KQM8	Silent	SNP	ENST00000607628.1	37	c.1533G>A																																																																																					0.507	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018403		10	37	0	0	0	1	0	10	37				
STXBP5	134957	broad.mit.edu	37	6	147525760	147525760	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr6:147525760G>A	ENST00000321680.6	+	1	92	c.92G>A	c.(91-93)gGg>gAg	p.G31E	STXBP5_ENST00000546097.1_Missense_Mutation_p.G31E|STXBP5-AS1_ENST00000367477.3_RNA|STXBP5_ENST00000367481.3_Missense_Mutation_p.G31E|STXBP5-AS1_ENST00000427394.1_RNA|STXBP5_ENST00000367480.3_Missense_Mutation_p.G31E|STXBP5_ENST00000179882.6_5'Flank|STXBP5-AS1_ENST00000417502.1_RNA	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	31					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CATCCGCCTGGGAACCGGGAG	0.617																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(91-93)gGg>gAg		syntaxin binding protein 5 (tomosyn)							33.0	37.0	36.0					6																	147525760		2203	4300	6503	SO:0001583	missense	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147525760G>A	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.92G>A	6.37:g.147525760G>A	ENSP00000321826:p.Gly31Glu					STXBP5_ENST00000546097.1_Missense_Mutation_p.G31E|STXBP5_ENST00000321680.6_Missense_Mutation_p.G31E|STXBP5_ENST00000367480.3_Missense_Mutation_p.G31E	p.G31E	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	1	200	+		Ovarian(120;0.0164)	31					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.92G>A	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165361	0.57476	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	D;D;D;D	0.99042	-5.36;-5.36;-5.36;-5.36	4.24	3.3	0.37823	.	2.065310	0.02556	N	0.096142	D	0.97077	0.9045	M	0.64404	1.975	0.80722	D	1	B;B	0.24258	0.004;0.1	B;B	0.18561	0.015;0.022	D	0.87386	0.2360	10	0.36615	T	0.2	.	13.0331	0.58854	0.0:0.2923:0.7077:0.0	.	31;31	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	E	31	ENSP00000356451:G31E;ENSP00000441479:G31E;ENSP00000321826:G31E;ENSP00000356450:G31E	ENSP00000321826:G31E	G	+	2	0	STXBP5	147567453	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	5.327000	0.65881	1.921000	0.55644	0.591000	0.81541	GGG		0.617	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			12	30	0	0	0	1	0	12	30				
RUFY3	22902	broad.mit.edu	37	4	71648884	71648884	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr4:71648884T>C	ENST00000226328.4	+	9	1534	c.971T>C	c.(970-972)cTg>cCg	p.L324P	RUFY3_ENST00000502653.1_Missense_Mutation_p.L271P|RUFY3_ENST00000417478.2_Missense_Mutation_p.L384P|RUFY3_ENST00000381006.3_Missense_Mutation_p.L324P|RUFY3_ENST00000536664.1_Missense_Mutation_p.L308P	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	324					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TCCTACATACTGGAATCCAAT	0.338																																						ENST00000226328.4																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16						c.(970-972)cTg>cCg		RUN and FYVE domain containing 3							65.0	63.0	64.0					4																	71648884		2203	4299	6502	SO:0001583	missense	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71648884T>C	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.971T>C	4.37:g.71648884T>C	ENSP00000226328:p.Leu324Pro					RUFY3_ENST00000417478.2_Missense_Mutation_p.L384P|RUFY3_ENST00000502653.1_Missense_Mutation_p.L271P|RUFY3_ENST00000536664.1_Missense_Mutation_p.L308P|RUFY3_ENST00000381006.3_Missense_Mutation_p.L324P	p.L324P	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		9	1534	+		all_hematologic(202;0.248)	324					B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	c.971T>C	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.625747	0.66901	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000502653	T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49	5.7	5.7	0.88788	.	0.140920	0.51477	D	0.000097	T	0.26521	0.0648	M	0.62723	1.935	0.80722	D	1	P;D;P;P	0.55605	0.843;0.972;0.736;0.942	P;P;B;P	0.55871	0.602;0.672;0.159;0.786	T	0.01222	-1.1414	10	0.31617	T	0.26	-4.6506	11.8278	0.52278	0.0:0.0697:0.0:0.9303	.	308;324;324;384	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	P	384;324;324;308;271	ENSP00000399771:L384P;ENSP00000370394:L324P;ENSP00000226328:L324P;ENSP00000443652:L308P;ENSP00000425400:L271P	ENSP00000226328:L324P	L	+	2	0	RUFY3	71867748	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	3.940000	0.56599	2.168000	0.68352	0.533000	0.62120	CTG		0.338	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		4	18	0	0	0	1	0	4	18				
MPZL1	9019	broad.mit.edu	37	1	167757148	167757148	+	Missense_Mutation	SNP	G	G	A	rs190661858		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:167757148G>A	ENST00000359523.2	+	6	1002	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	MPZL1_ENST00000403379.3_3'UTR|MPZL1_ENST00000392121.3_Missense_Mutation_p.R117Q	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	267					cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					GCGGATATCCGAAAGAATTAA	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21019	0.0		0.0	False		,,,				2504	0.0					ENST00000359523.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15						c.(799-801)cGa>cAa		myelin protein zero-like 1		G	GLN/ARG,GLN/ARG,	0,4406		0,0,2203	78.0	74.0	75.0		350,800,	3.6	1.0	1		75	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,utr-3	MPZL1	NM_001146191.1,NM_003953.5,NM_024569.4	43,43,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,	117/120,267/270,	167757148	2,13004	2203	4300	6503	SO:0001583	missense	9019				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity	g.chr1:167757148G>A	AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"""Immunoglobulin superfamily / V-set domain containing"""	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.800G>A	1.37:g.167757148G>A	ENSP00000352513:p.Arg267Gln					MPZL1_ENST00000392121.3_Missense_Mutation_p.R117Q|MPZL1_ENST00000403379.3_3'UTR	p.R267Q	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN			6	1002	+	all_hematologic(923;0.215)		267					B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Missense_Mutation	SNP	ENST00000359523.2	37	c.800G>A	CCDS1264.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	25.9	4.685577	0.88639	0.0	2.33E-4	ENSG00000197965	ENST00000359523;ENST00000392121	D;D	0.99677	-4.73;-6.37	4.58	3.64	0.41730	.	.	.	.	.	D	0.97698	0.9245	L	0.32530	0.975	0.43230	D	0.995120	P;P	0.50272	0.933;0.8	B;B	0.40940	0.344;0.068	D	0.97196	0.9861	8	0.87932	D	0	.	10.8163	0.46578	0.0939:0.0:0.9061:0.0	.	117;267	B2REC0;O95297	.;MPZL1_HUMAN	Q	267;117	ENSP00000352513:R267Q;ENSP00000375968:R117Q	ENSP00000352513:R267Q	R	+	2	0	MPZL1	166023772	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.144000	0.42197	1.202000	0.43218	0.650000	0.86243	CGA		0.448	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083655.2	NM_024569		5	94	0	0	0	1	0	5	94				
TAS2R1	50834	broad.mit.edu	37	5	9629945	9629945	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:9629945A>C	ENST00000382492.2	-	1	518	c.200T>G	c.(199-201)gTg>gGg	p.V67G	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	67					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GATAACAATCACATTAACGTA	0.388																																						ENST00000382492.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						c.(199-201)gTg>gGg		taste receptor, type 2, member 1							39.0	42.0	41.0					5																	9629945		2203	4300	6503	SO:0001583	missense	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629945A>C	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.200T>G	5.37:g.9629945A>C	ENSP00000371932:p.Val67Gly					CTD-2001E22.1_ENST00000504182.2_RNA	p.V67G	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN			1	518	-			67					Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	c.200T>G	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.965308	0.34659	.	.	ENSG00000169777	ENST00000382492	T	0.00848	5.62	5.32	4.15	0.48705	.	1.064320	0.07411	N	0.892330	T	0.01627	0.0052	L	0.54323	1.7	0.09310	N	0.999998	P	0.40250	0.709	B	0.41510	0.359	T	0.50276	-0.8847	9	.	.	.	.	4.8322	0.13447	0.7501:0.0:0.0866:0.1633	.	67	Q9NYW7	TA2R1_HUMAN	G	67	ENSP00000371932:V67G	.	V	-	2	0	TAS2R1	9682945	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.813000	0.27225	1.030000	0.39839	0.533000	0.62120	GTG		0.388	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			14	85	0	0	0	1	0	14	85				
AGPAT3	56894	broad.mit.edu	37	21	45397973	45397973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr21:45397973C>T	ENST00000398063.2	+	7	1306	c.814C>T	c.(814-816)Cag>Tag	p.Q272*	AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Nonsense_Mutation_p.Q272*|AGPAT3_ENST00000291572.8_Nonsense_Mutation_p.Q272*|AGPAT3_ENST00000327505.2_Nonsense_Mutation_p.Q272*|AGPAT3_ENST00000546158.1_Nonsense_Mutation_p.Q272*|AGPAT3_ENST00000398061.1_Nonsense_Mutation_p.Q272*	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	272					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		GGAAGCAGCTCAGTGGCTTCA	0.527																																					Pancreas(60;623 1650 5574 52796)	ENST00000398063.2																			0				large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11						c.(814-816)Cag>Tag		1-acylglycerol-3-phosphate O-acyltransferase 3							63.0	55.0	58.0					21																	45397973		2203	4300	6503	SO:0001587	stop_gained	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45397973C>T	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.814C>T	21.37:g.45397973C>T	ENSP00000381140:p.Gln272*					AGPAT3_ENST00000398058.1_Nonsense_Mutation_p.Q272*|AGPAT3_ENST00000398061.1_Nonsense_Mutation_p.Q272*|AGPAT3_ENST00000546158.1_Nonsense_Mutation_p.Q272*|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000291572.8_Nonsense_Mutation_p.Q272*|AGPAT3_ENST00000327505.2_Nonsense_Mutation_p.Q272*	p.Q272*	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	7	1306	+			272					D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Nonsense_Mutation	SNP	ENST00000398063.2	37	c.814C>T	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	C	33	5.222880	0.95139	.	.	ENSG00000160216	ENST00000291572;ENST00000398061;ENST00000327505;ENST00000398063;ENST00000398058;ENST00000546158	.	.	.	4.72	2.65	0.31530	.	0.469936	0.22534	N	0.058817	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-37.4671	8.0361	0.30493	0.2988:0.5847:0.1166:0.0	.	.	.	.	X	272	.	ENSP00000291572:Q272X	Q	+	1	0	AGPAT3	44222401	0.819000	0.29175	0.916000	0.36221	0.748000	0.42578	1.605000	0.36815	2.169000	0.68431	0.411000	0.27672	CAG		0.527	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		14	49	0	0	0	1	0	14	49				
TP53	7157	broad.mit.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A	rs587782529		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (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.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(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)	ATCTCGAAGCGCTCACGCCCA	0.522		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)	ENST00000269305.4		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"""		31	Substitution - Missense(19)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(1)	central_nervous_system(6)|large_intestine(5)|ovary(4)|bone(4)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|stomach(1)|liver(1)|peritoneum(1)|lung(1)|kidney(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	CM981929	TP53	M		c.(1009-1011)Cgc>Tgc	Other conserved DNA damage response genes	tumor protein p53							56.0	44.0	48.0					17																	7574018		2203	4300	6503	SO:0001583	missense	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.chr17:7574018G>A	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.1009C>T	17.37:g.7574018G>A	ENSP00000269305:p.Arg337Cys	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_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R337C	p.R337C	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		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1198	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	337		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.1009C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159246	0.21454	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95205	-3.64;-3.64	5.43	3.38	0.38709	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	M	0.82323	2.585	0.48341	D	0.999635	P	0.39940	0.696	B	0.40940	0.344	D	0.93083	0.6493	10	0.87932	D	0	-7.3279	12.447	0.55657	0.0:0.0:0.6947:0.3053	.	337	P04637	P53_HUMAN	C	337;337;326	ENSP00000269305:R337C;ENSP00000391478:R337C	ENSP00000269305:R337C	R	-	1	0	TP53	7514743	0.558000	0.26554	0.006000	0.13384	0.274000	0.26718	1.012000	0.29924	0.615000	0.30124	0.561000	0.74099	CGC		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	13	0	0	0	1	0	25	13				
BAI3	577	broad.mit.edu	37	6	70070996	70070996	+	Silent	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr6:70070996G>A	ENST00000370598.1	+	29	4652	c.3831G>A	c.(3829-3831)ttG>ttA	p.L1277L	BAI3_ENST00000546190.1_Silent_p.L241L|BAI3_ENST00000238918.8_Silent_p.L483L	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1277					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATAGTGAATTGCGGAGAACTG	0.398																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(3829-3831)ttG>ttA		brain-specific angiogenesis inhibitor 3							88.0	85.0	86.0					6																	70070996		2203	4298	6501	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70070996G>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3831G>A	6.37:g.70070996G>A						BAI3_ENST00000546190.1_Silent_p.L241L|BAI3_ENST00000238918.8_Silent_p.L483L	p.L1277L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			29	4652	+		all_lung(197;0.212)	1277					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.3831G>A	CCDS4968.1																																																																																				0.398	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			12	93	0	0	0	1	0	12	93				
SYNE1	23345	broad.mit.edu	37	6	152605145	152605145	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr6:152605145T>C	ENST00000367255.5	-	96	18776	c.18175A>G	c.(18175-18177)Atg>Gtg	p.M6059V	SYNE1_ENST00000356820.4_Missense_Mutation_p.M583V|SYNE1_ENST00000341594.5_Missense_Mutation_p.M5671V|SYNE1_ENST00000265368.4_Missense_Mutation_p.M6059V|SYNE1_ENST00000423061.1_Missense_Mutation_p.M5988V|SYNE1_ENST00000448038.1_Missense_Mutation_p.M5988V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6059					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGGCTTTCATCCTGATGGTG	0.522										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(18175-18177)Atg>Gtg		spectrin repeat containing, nuclear envelope 1							69.0	69.0	69.0					6																	152605145		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152605145T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18175A>G	6.37:g.152605145T>C	ENSP00000356224:p.Met6059Val	HNSCC(10;0.0054)				SYNE1_ENST00000356820.4_Missense_Mutation_p.M583V|SYNE1_ENST00000423061.1_Missense_Mutation_p.M5988V|SYNE1_ENST00000448038.1_Missense_Mutation_p.M5988V|SYNE1_ENST00000341594.5_Missense_Mutation_p.M5671V|SYNE1_ENST00000265368.4_Missense_Mutation_p.M6059V	p.M6059V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	96	18776	-		Ovarian(120;0.0955)	6059					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.18175A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	24.8	4.566345	0.86439	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000540663	T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000001	T	0.50051	0.1593	M	0.71581	2.175	0.58432	D	0.999999	D;D;D;D	0.76494	0.982;0.999;0.999;0.999	P;D;D;D	0.80764	0.704;0.986;0.986;0.994	T	0.48258	-0.9051	10	0.36615	T	0.2	.	15.8384	0.78818	0.0:0.0:0.0:1.0	.	474;6059;6059;5988	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	V	6059;5988;6059;5988;5671;583;234	ENSP00000356224:M6059V;ENSP00000396024:M5988V;ENSP00000265368:M6059V;ENSP00000390975:M5988V;ENSP00000341887:M5671V;ENSP00000349276:M583V;ENSP00000437411:M234V	ENSP00000265368:M6059V	M	-	1	0	SYNE1	152646838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.621000	0.83083	2.141000	0.66446	0.477000	0.44152	ATG		0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		14	58	0	0	0	1	0	14	58				
C3orf30	152405	broad.mit.edu	37	3	118865485	118865485	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:118865485T>A	ENST00000295622.1	+	1	489	c.449T>A	c.(448-450)tTa>tAa	p.L150*	IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	150										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GAACGAAGATTACCTACCCAG	0.498																																						ENST00000295622.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34						c.(448-450)tTa>tAa		chromosome 3 open reading frame 30							55.0	52.0	53.0					3																	118865485		2203	4300	6503	SO:0001587	stop_gained	152405							g.chr3:118865485T>A	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.449T>A	3.37:g.118865485T>A	ENSP00000295622:p.Leu150*						p.L150*	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	489	+			150					A1L4B7	Nonsense_Mutation	SNP	ENST00000295622.1	37	c.449T>A	CCDS2984.1	.	.	.	.	.	.	.	.	.	.	T	14.70	2.612861	0.46631	.	.	ENSG00000163424	ENST00000295622;ENST00000470341	.	.	.	3.58	-7.15	0.01521	.	7.370980	0.00575	N	0.000316	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	10.0748	4.4774	0.11750	0.0931:0.1016:0.3721:0.4332	.	.	.	.	X	150	.	ENSP00000295622:L150X	L	+	2	0	C3orf30	120348175	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.782000	0.01772	-3.007000	0.00274	-0.468000	0.05107	TTA		0.498	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		20	77	0	0	0	1	0	20	77				
ITGB8	3696	broad.mit.edu	37	7	20371553	20371553	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr7:20371553G>T	ENST00000222573.4	+	1	808	c.124G>T	c.(124-126)Ggt>Tgt	p.G42C	ITGB8_ENST00000537992.1_Intron|CTA-293F17.1_ENST00000603156.1_RNA|CTA-293F17.1_ENST00000605357.1_RNA	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	42					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ACTGGGCCAAGGTGGTAAGtt	0.542																																						ENST00000222573.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(124-126)Ggt>Tgt		integrin, beta 8							76.0	73.0	74.0					7																	20371553		2203	4300	6503	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20371553G>T		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.124G>T	7.37:g.20371553G>T	ENSP00000222573:p.Gly42Cys					ITGB8_ENST00000537992.1_Intron	p.G42C	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN			1	808	+			42					A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.124G>T	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.504970	0.44558	.	.	ENSG00000105855	ENST00000222573	D	0.90069	-2.61	5.31	4.19	0.49359	.	0.988811	0.08233	N	0.977300	T	0.79393	0.4438	N	0.08118	0	0.80722	D	1	B;B	0.28760	0.07;0.221	B;B	0.33196	0.111;0.159	T	0.71031	-0.4710	10	0.56958	D	0.05	4.0E-4	5.9032	0.18978	0.8763:0.0:0.1237:0.0	.	42;42	P26012;Q9BUG9	ITB8_HUMAN;.	C	42	ENSP00000222573:G42C	ENSP00000222573:G42C	G	+	1	0	ITGB8	20338078	0.995000	0.38212	0.998000	0.56505	0.992000	0.81027	1.766000	0.38491	1.078000	0.41014	0.655000	0.94253	GGT		0.542	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		13	31	1	0	9.31168e-06	1	1.01333e-05	13	31				
RYR3	6263	broad.mit.edu	37	15	34078150	34078150	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr15:34078150A>T	ENST00000389232.4	+	66	9626	c.9556A>T	c.(9556-9558)Atc>Ttc	p.I3186F	RYR3_ENST00000415757.3_Missense_Mutation_p.I3186F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3186					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAACCTGGGCATCGATGAGGC	0.552																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(9556-9558)Atc>Ttc		ryanodine receptor 3							137.0	148.0	144.0					15																	34078150		2136	4256	6392	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34078150A>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9556A>T	15.37:g.34078150A>T	ENSP00000373884:p.Ile3186Phe					RYR3_ENST00000415757.3_Missense_Mutation_p.I3186F	p.I3186F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	66	9626	+		all_lung(180;7.18e-09)	3186					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.9556A>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.938846	0.92526	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96967	-4.19;-4.19	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.97739	0.9258	M	0.80028	2.48	0.80722	D	1	D;D	0.71674	0.998;0.997	P;D	0.64144	0.903;0.922	D	0.98290	1.0513	10	0.62326	D	0.03	.	15.2689	0.73683	1.0:0.0:0.0:0.0	.	3186;3186	Q15413-2;Q15413	.;RYR3_HUMAN	F	3186	ENSP00000373884:I3186F;ENSP00000399610:I3186F	ENSP00000354735:I3186F	I	+	1	0	RYR3	31865442	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.071000	0.93980	2.251000	0.74343	0.496000	0.49642	ATC		0.552	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			60	285	0	0	0	1	0	60	285				
ESRRB	2103	broad.mit.edu	37	14	76949084	76949084	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr14:76949084T>A	ENST00000509242.1	+	6	867	c.769T>A	c.(769-771)Tgg>Agg	p.W257R	ESRRB_ENST00000556177.1_Missense_Mutation_p.W257R|ESRRB_ENST00000380887.2_Missense_Mutation_p.W257R|ESRRB_ENST00000261532.7_Missense_Mutation_p.W257R	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	257					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CATCATTGGCTGGGCCAAGCA	0.612																																						ENST00000380887.2																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(769-771)Tgg>Agg		estrogen-related receptor beta							115.0	88.0	98.0					14																	76949084		2203	4300	6503	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76949084T>A	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.769T>A	14.37:g.76949084T>A	ENSP00000422488:p.Trp257Arg					ESRRB_ENST00000556177.1_Missense_Mutation_p.W257R|ESRRB_ENST00000261532.7_Missense_Mutation_p.W257R|ESRRB_ENST00000509242.1_Missense_Mutation_p.W257R	p.W257R			A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	5	841	+			257					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.769T>A	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	T	25.3	4.625147	0.87560	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.88669	0.6499	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92866	0.6310	10	0.87932	D	0	.	15.6969	0.77506	0.0:0.0:0.0:1.0	.	257;262	Q5F0P7;E7EWD9	.;.	R	262;257;257;257;257	ENSP00000424992:W262R;ENSP00000422488:W257R;ENSP00000451658:W257R;ENSP00000370270:W257R;ENSP00000261532:W257R	ENSP00000261532:W257R	W	+	1	0	ESRRB	76018837	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.887000	0.87295	2.108000	0.64289	0.533000	0.62120	TGG		0.612	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			24	32	0	0	0	1	0	24	32				
PLAGL1	5325	broad.mit.edu	37	6	144263779	144263779	+	Silent	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr6:144263779G>A	ENST00000360537.2	-	5	2087	c.174C>T	c.(172-174)ccC>ccT	p.P58P	PLAGL1_ENST00000437412.1_Silent_p.P6P|PLAGL1_ENST00000367571.1_Silent_p.P58P|PLAGL1_ENST00000354765.2_Silent_p.P58P|PLAGL1_ENST00000367572.1_Silent_p.P6P|PLAGL1_ENST00000392307.1_Silent_p.P6P|PLAGL1_ENST00000392309.1_Silent_p.P58P|PLAGL1_ENST00000429150.1_Silent_p.P58P|PLAGL1_ENST00000416623.1_Silent_p.P58P|PLAGL1_ENST00000444202.1_Silent_p.P58P			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	58					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GAGATTTCTGGGGAGAATGGG	0.448											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360537.2																			0				endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13						c.(172-174)ccC>ccT		pleiomorphic adenoma gene-like 1							88.0	84.0	85.0					6																	144263779		2203	4300	6503	SO:0001819	synonymous_variant	5325				cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:144263779G>A	U81992	CCDS5202.1, CCDS5203.1	6q24-q25	2013-01-08			ENSG00000118495	ENSG00000118495		"""Zinc fingers, C2H2-type"""	9046	protein-coding gene	gene with protein product		603044				9722527, 9671765	Standard	NM_006718		Approved	ZAC, LOT1	uc003qkf.3	Q9UM63	OTTHUMG00000015738	ENST00000360537.2:c.174C>T	6.37:g.144263779G>A			OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1685	PLAGL1_ENST00000392307.1_Silent_p.P6P|PLAGL1_ENST00000367572.1_Silent_p.P6P|PLAGL1_ENST00000416623.1_Silent_p.P58P|PLAGL1_ENST00000367571.1_Silent_p.P58P|PLAGL1_ENST00000392309.1_Silent_p.P58P|PLAGL1_ENST00000444202.1_Silent_p.P58P|PLAGL1_ENST00000437412.1_Silent_p.P6P|PLAGL1_ENST00000429150.1_Silent_p.P58P|PLAGL1_ENST00000354765.2_Silent_p.P58P	p.P58P			Q9UM63	PLAL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)	5	2087	-			58					B2RBA4|B2RCM8|E1P595|E1P597|O76019|Q7Z3V8|Q92981|Q96JR9|Q9UIZ0	Silent	SNP	ENST00000360537.2	37	c.174C>T	CCDS5202.1																																																																																				0.448	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042541.1			4	51	0	0	0	1	0	4	51				
CBLN4	140689	broad.mit.edu	37	20	54573662	54573662	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr20:54573662C>A	ENST00000064571.2	-	3	1857	c.557G>T	c.(556-558)gGa>gTa	p.G186V		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	186	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CTGCCAGCCTCCAACCAAATT	0.458																																						ENST00000064571.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17						c.(556-558)gGa>gTa		cerebellin 4 precursor							125.0	114.0	118.0					20																	54573662		2203	4300	6503	SO:0001583	missense	140689					cell junction|extracellular region|synapse		g.chr20:54573662C>A	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.557G>T	20.37:g.54573662C>A	ENSP00000064571:p.Gly186Val						p.G186V	NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)		3	1857	-			186			C1q.		A8K0S5	Missense_Mutation	SNP	ENST00000064571.2	37	c.557G>T	CCDS13448.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282394	0.80692	.	.	ENSG00000054803	ENST00000064571	T	0.75154	-0.91	5.48	5.48	0.80851	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	D	0.89336	0.6686	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91144	0.4948	10	0.87932	D	0	-6.0647	19.3503	0.94381	0.0:1.0:0.0:0.0	.	186	Q9NTU7	CBLN4_HUMAN	V	186	ENSP00000064571:G186V	ENSP00000064571:G186V	G	-	2	0	CBLN4	54007069	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.764000	0.85297	2.571000	0.86741	0.491000	0.48974	GGA		0.458	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		29	45	1	0	7.26314e-15	1	8.14352e-15	29	45				
AOC2	314	broad.mit.edu	37	17	40997475	40997475	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr17:40997475G>T	ENST00000253799.3	+	1	859	c.832G>T	c.(832-834)Ggc>Tgc	p.G278C	AOC2_ENST00000452774.2_Missense_Mutation_p.G278C	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	278					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GTTTAAGTCTGGCCGGTTGGA	0.572																																						ENST00000253799.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(832-834)Ggc>Tgc		amine oxidase, copper containing 2 (retina-specific)							82.0	82.0	82.0					17																	40997475		2203	4300	6503	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40997475G>T	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.832G>T	17.37:g.40997475G>T	ENSP00000253799:p.Gly278Cys					AOC2_ENST00000452774.2_Missense_Mutation_p.G278C	p.G278C	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	859	+		Breast(137;0.000143)	278					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.832G>T	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675229	0.67928	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.22336	1.96;1.96	5.66	5.66	0.87406	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	0.329009	0.33875	N	0.004479	T	0.26484	0.0647	N	0.08118	0	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.20042	-1.0287	10	0.72032	D	0.01	-34.1364	13.0014	0.58679	0.0742:0.0:0.9258:0.0	.	278;278	O75106;O75106-2	AOC2_HUMAN;.	C	278	ENSP00000253799:G278C;ENSP00000406134:G278C	ENSP00000253799:G278C	G	+	1	0	AOC2	38251001	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.380000	0.59581	2.669000	0.90835	0.561000	0.74099	GGC		0.572	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		25	81	1	0	1.55469e-16	1	1.76093e-16	25	81				
HRNR	388697	broad.mit.edu	37	1	152187893	152187893	+	Missense_Mutation	SNP	C	C	T	rs147850915	byFrequency	TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:152187893C>T	ENST00000368801.2	-	3	6287	c.6212G>A	c.(6211-6213)cGt>cAt	p.R2071H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2071					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCAGACCCACGCTGGCCGTG	0.632													T|||	6	0.00119808	0.0008	0.0014	5008	,	,		27910	0.002		0.001	False		,,,				2504	0.001					ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6211-6213)cGt>cAt		hornerin							25.0	24.0	25.0					1																	152187893		2181	4272	6453	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187893C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6212G>A	1.37:g.152187893C>T	ENSP00000357791:p.Arg2071His					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R2071H	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6287	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2071					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6212G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	6.866	0.529226	0.13127	.	.	ENSG00000197915	ENST00000368801	T	0.01527	4.8	4.33	1.98	0.26296	.	.	.	.	.	T	0.00356	0.0011	N	0.16368	0.405	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41448	-0.9508	9	0.14656	T	0.56	.	4.1847	0.10392	0.0:0.1863:0.1714:0.6424	.	2071	Q86YZ3	HORN_HUMAN	H	2071	ENSP00000357791:R2071H	ENSP00000357791:R2071H	R	-	2	0	HRNR	150454517	0.000000	0.05858	0.011000	0.14972	0.006000	0.05464	-1.101000	0.03336	0.281000	0.22233	-1.956000	0.00482	CGT		0.632	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		82	240	0	0	0	1	0	82	240				
CYP2C19	1557	broad.mit.edu	37	10	96609684	96609684	+	Missense_Mutation	SNP	T	T	C	rs562912432		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr10:96609684T>C	ENST00000371321.3	+	8	1242	c.1160T>C	c.(1159-1161)aTa>aCa	p.I387T	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	387					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GGCACAACCATATTAACTTCC	0.398													T|||	1	0.000199681	0.0	0.0	5008	,	,		19799	0.0		0.0	False		,,,				2504	0.001					ENST00000371321.3																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(1159-1161)aTa>aCa		cytochrome P450, family 2, subfamily C, polypeptide 19	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						167.0	154.0	158.0					10																	96609684		2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96609684T>C	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.1160T>C	10.37:g.96609684T>C	ENSP00000360372:p.Ile387Thr					CYP2C19_ENST00000464755.1_3'UTR	p.I387T	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	8	1242	+		Colorectal(252;0.09)	387					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.1160T>C	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.695880	0.48202	.	.	ENSG00000165841	ENST00000371321	T	0.16073	2.37	3.5	3.5	0.40072	.	0.070683	0.53938	U	0.000051	T	0.42337	0.1198	M	0.85945	2.785	0.09310	N	1	D	0.71674	0.998	D	0.72982	0.979	T	0.25222	-1.0138	10	0.87932	D	0	.	10.3247	0.43785	0.0:0.0:0.0:1.0	.	387	P33261	CP2CJ_HUMAN	T	387	ENSP00000360372:I387T	ENSP00000360372:I387T	I	+	2	0	CYP2C19	96599674	0.690000	0.27699	0.003000	0.11579	0.008000	0.06430	5.125000	0.64715	1.360000	0.45960	0.491000	0.48974	ATA		0.398	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		51	125	0	0	0	1	0	51	125				
ALB	213	broad.mit.edu	37	4	74270123	74270123	+	Splice_Site	SNP	C	C	T	rs141733599		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr4:74270123C>T	ENST00000295897.4	+	1	168	c.79C>T	c.(79-81)Cac>Tac	p.H27Y	ALB_ENST00000509063.1_Splice_Site_p.H27Y|ALB_ENST00000401494.3_Splice_Site_p.H27Y|ALB_ENST00000503124.1_5'UTR|ALB_ENST00000415165.2_Splice_Site_p.H27Y	NM_000477.5	NP_000468.1	Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCGAGATGCACGTAAGAAATC	0.358																																						ENST00000295897.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	GRCh37	CM940018	ALB	M	rs141733599	c.e1+1		albumin	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	C	TYR/HIS	0,4406		0,0,2203	117.0	111.0	113.0		79	0.9	0.9	4	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice	ALB	NM_000477.5	83	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	27/610	74270123	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74270123C>T	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000295897.4:c.79+1C>T	4.37:g.74270123C>T						ALB_ENST00000509063.1_Splice_Site_p.H27_splice|ALB_ENST00000503124.1_5'UTR|ALB_ENST00000401494.3_Splice_Site_p.H27_splice|ALB_ENST00000415165.2_Splice_Site_p.H27_splice	p.H27_splice	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		1	168	+	Breast(15;0.00102)		27		H -> Q (in Nagasaki-3).|H -> Y (in Larino).	Albumin 1.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Splice_Site	SNP	ENST00000295897.4	37	c.79_splice	CCDS3555.1	.	.	.	.	.	.	.	.	.	.	C	8.707	0.911229	0.17833	0.0	1.16E-4	ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000415165;ENST00000329326;ENST00000509063;ENST00000401494	T;T;T;T;T	0.73363	-0.74;-0.74;0.18;-0.74;0.61	5.55	0.909	0.19332	Serum albumin, N-terminal (2);	0.364445	0.28583	N	0.014840	T	0.64080	0.2566	L	0.31926	0.97	0.29832	N	0.829949	D;B;B;B	0.65815	0.995;0.382;0.025;0.008	P;B;B;B	0.48270	0.572;0.076;0.002;0.002	T	0.61874	-0.6973	10	0.40728	T	0.16	-2.3259	7.3524	0.26700	0.0:0.3303:0.4557:0.214	.	27;27;27;27	B7WNR0;C9JKR2;A6NBZ8;P02768	.;.;.;ALBU_HUMAN	Y	29;27;27;27;27;27	ENSP00000392541:H29Y;ENSP00000295897:H27Y;ENSP00000401820:H27Y;ENSP00000422784:H27Y;ENSP00000384695:H27Y	ENSP00000295897:H27Y	H	+	1	0	ALB	74488987	0.994000	0.37717	0.928000	0.36995	0.357000	0.29423	0.086000	0.14935	-0.047000	0.13423	0.655000	0.94253	CAC		0.358	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252173.3	NM_000477	Missense_Mutation	20	55	0	0	0	1	0	20	55				
LRR1	122769	broad.mit.edu	37	14	50069156	50069156	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr14:50069156G>T	ENST00000298288.6	+	2	576	c.252G>T	c.(250-252)aaG>aaT	p.K84N	LRR1_ENST00000318317.4_Missense_Mutation_p.K84N|LRR1_ENST00000557531.1_Intron	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	84					protein ubiquitination (GO:0016567)					kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTCGGTTAAAGGAGCCTCCTG	0.333																																						ENST00000298288.6																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(250-252)aaG>aaT		leucine rich repeat protein 1							110.0	110.0	110.0					14																	50069156		2203	4300	6503	SO:0001583	missense	122769							g.chr14:50069156G>T	BC030142	CCDS9686.1, CCDS9687.1	14q21.3	2011-02-02	2011-02-02	2011-02-02	ENSG00000165501	ENSG00000165501			19742	protein-coding gene	gene with protein product	"""LRR-repeat protein 1"""	609193	"""peptidylprolyl isomerase (cyclophilin)-like 5"""	PPIL5		11804328, 21074724	Standard	NR_037792		Approved	MGC20689, LRR-1	uc001wwn.3	Q96L50	OTTHUMG00000140273	ENST00000298288.6:c.252G>T	14.37:g.50069156G>T	ENSP00000298288:p.Lys84Asn					LRR1_ENST00000557531.1_Intron|LRR1_ENST00000318317.4_Missense_Mutation_p.K84N	p.K84N	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN			2	576	+			84					A5D6X3|B4DDE0|Q52M24|Q86SZ1|Q8N6H9	Missense_Mutation	SNP	ENST00000298288.6	37	c.252G>T	CCDS9686.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949054	0.73787	.	.	ENSG00000165501	ENST00000298288;ENST00000361579;ENST00000318317	T	0.43294	0.95	5.99	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.57710	0.2072	M	0.67953	2.075	0.54753	D	0.999981	D;P;D	0.76494	0.999;0.913;0.999	D;P;D	0.80764	0.994;0.682;0.922	T	0.53788	-0.8389	10	0.49607	T	0.09	-15.8283	9.312	0.37910	0.3222:0.0:0.6778:0.0	.	84;84;84	A8MSW2;Q96L50-2;Q96L50	.;.;LLR1_HUMAN	N	84	ENSP00000298288:K84N	ENSP00000298288:K84N	K	+	3	2	LRR1	49138906	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.660000	0.37397	0.297000	0.22615	0.549000	0.68633	AAG		0.333	LRR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410790.1	NM_203467		23	58	1	0	1.12875e-08	1	1.24051e-08	23	58				
ACTR10	55860	broad.mit.edu	37	14	58701146	58701146	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr14:58701146T>A	ENST00000254286.4	+	13	1211	c.1131T>A	c.(1129-1131)taT>taA	p.Y377*		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	377					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						CAAAGGAATATTATAATCAGA	0.378																																						ENST00000254286.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(1129-1131)taT>taA		actin-related protein 10 homolog (S. cerevisiae)							103.0	105.0	105.0					14																	58701146		2203	4300	6503	SO:0001587	stop_gained	55860					cytoplasm		g.chr14:58701146T>A	AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.1131T>A	14.37:g.58701146T>A	ENSP00000254286:p.Tyr377*					ACTR10_ENST00000554402.1_3'UTR	p.Y377*	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN			13	1211	+			377					Q9H9Y5|Q9NWY2	Nonsense_Mutation	SNP	ENST00000254286.4	37	c.1131T>A	CCDS32090.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	36|36	5.632906|5.632906	0.96682|0.96682	.|.	.|.	ENSG00000131966|ENSG00000131966	ENST00000554642|ENST00000254286	.|.	.|.	.|.	5.78|5.78	4.64|4.64	0.57946|0.57946	.|.	.|0.051194	.|0.85682	.|D	.|0.000000	T|.	0.32041|.	0.0816|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.14587|.	-1.0467|.	4|.	.|0.02654	.|T	.|1	-8.0102|-8.0102	10.5274|10.5274	0.44957|0.44957	0.0:0.0767:0.0:0.9233|0.0:0.0767:0.0:0.9233	.|.	.|.	.|.	.|.	I|X	109|377	.|.	.|ENSP00000254286:Y377X	L|Y	+|+	1|3	2|2	ACTR10|ACTR10	57770899|57770899	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	2.053000|2.053000	0.41326|0.41326	1.137000|1.137000	0.42214|0.42214	0.533000|0.533000	0.62120|0.62120	TTA|TAT		0.378	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1			5	70	0	0	0	1	0	5	70				
KLHDC7A	127707	broad.mit.edu	37	1	18809380	18809380	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:18809380A>C	ENST00000400664.1	+	1	1957	c.1905A>C	c.(1903-1905)gaA>gaC	p.E635D		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	635						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCCAAGGAAATCTTCGTCA	0.706																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1903-1905)gaA>gaC		kelch domain containing 7A							20.0	22.0	21.0					1																	18809380		2201	4297	6498	SO:0001583	missense	127707					integral to membrane		g.chr1:18809380A>C	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1905A>C	1.37:g.18809380A>C	ENSP00000383505:p.Glu635Asp						p.E635D	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	1957	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	635					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.1905A>C	CCDS185.2	.	.	.	.	.	.	.	.	.	.	A	8.041	0.763849	0.15914	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.67171	-0.25	4.85	2.96	0.34315	Kelch-type beta propeller (1);	0.124607	0.52532	N	0.000078	T	0.52837	0.1759	L	0.34521	1.04	0.36349	D	0.859953	B;B	0.23735	0.04;0.09	B;B	0.23574	0.047;0.047	T	0.53457	-0.8436	10	0.48119	T	0.1	.	9.2396	0.37489	0.084:0.1635:0.7525:0.0	.	572;635	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	D	635;572	ENSP00000383505:E635D	ENSP00000383505:E635D	E	+	3	2	KLHDC7A	18681967	1.000000	0.71417	0.963000	0.40424	0.344000	0.29017	1.997000	0.40786	0.432000	0.26286	-0.252000	0.11476	GAA		0.706	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		7	34	0	0	0	1	0	7	34				
LOC151174	151174	broad.mit.edu	37	2	239141505	239141505	+	5'Flank	SNP	A	A	G	rs11689432	byFrequency	TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr2:239141505A>G	ENST00000409070.1	-	0	0				AC016757.3_ENST00000409942.1_5'Flank|AC016757.3_ENST00000470346.1_5'Flank|AC016757.3_ENST00000334973.4_5'Flank|AC096574.4_ENST00000456601.1_RNA|AC016757.3_ENST00000409376.1_5'Flank																							TTTTGGTGCAACAATTGGTTG	0.498													G|||	2644	0.527955	0.708	0.4366	5008	,	,		18489	0.3472		0.5388	False		,,,				2504	0.5245					ENST00000456601.1																			0																																																	SO:0001631	upstream_gene_variant	101927958							g.chr2:239141505A>G																													2.37:g.239141505A>G	Exception_encountered													0	906	+									RNA	SNP	ENST00000409070.1	37																																																																																						0.498	AC016757.3-006	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000328480.1			5	57	0	0	0	1	0	5	57				
CTAGE1	64693	broad.mit.edu	37	18	19997513	19997513	+	5'Flank	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr18:19997513C>T	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.E88K			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GCCTCCTTCTCAAAGCTGGCA	0.363																																						ENST00000391403.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(262-264)Gag>Aag		cutaneous T-cell lymphoma-associated antigen 1							131.0	143.0	139.0					18																	19997513		2201	4300	6501	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19997513C>T	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997513C>T	Exception_encountered						p.E88K	NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN			1	365	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		88					B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.262G>A		.	.	.	.	.	.	.	.	.	.	C	11.76	1.734993	0.30774	.	.	ENSG00000212710	ENST00000391403	T	0.37058	1.22	0.949	-0.239	0.13050	.	.	.	.	.	T	0.53367	0.1792	M	0.83483	2.645	0.09310	N	1	D	0.62365	0.991	D	0.65874	0.939	T	0.41179	-0.9523	8	.	.	.	.	3.7508	0.08566	0.427:0.573:0.0:0.0	.	88	Q96RT6	CTGE2_HUMAN	K	88	ENSP00000375220:E88K	.	E	-	1	0	CTAGE1	18251511	0.001000	0.12720	0.005000	0.12908	0.023000	0.10783	-0.189000	0.09629	-0.111000	0.12001	0.455000	0.32223	GAG		0.363	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		82	151	0	0	0	1	0	82	151				
HCN1	348980	broad.mit.edu	37	5	45645689	45645689	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:45645689C>A	ENST00000303230.4	-	2	504	c.447G>T	c.(445-447)atG>atT	p.M149I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	149					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCATTATAAGCATTATTAAAT	0.318																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(445-447)atG>atT		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							43.0	47.0	46.0					5																	45645689		2198	4270	6468	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45645689C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.447G>T	5.37:g.45645689C>A	ENSP00000307342:p.Met149Ile						p.M149I	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			2	504	-			149						Missense_Mutation	SNP	ENST00000303230.4	37	c.447G>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258763	0.59321	.	.	ENSG00000164588	ENST00000303230	T	0.79554	-1.28	5.09	5.09	0.68999	Ion transport N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.82664	0.5086	M	0.77313	2.365	0.80722	D	1	B	0.12630	0.006	B	0.19666	0.026	T	0.81200	-0.1041	10	0.87932	D	0	.	18.4939	0.90856	0.0:1.0:0.0:0.0	.	149	O60741	HCN1_HUMAN	I	149	ENSP00000307342:M149I	ENSP00000307342:M149I	M	-	3	0	HCN1	45681446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.369000	0.80426	0.555000	0.69702	ATG		0.318	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		10	30	1	0	2.17888e-05	1	2.32553e-05	10	30				
KIF26A	26153	broad.mit.edu	37	14	104642766	104642766	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr14:104642766C>T	ENST00000423312.2	+	12	3641	c.3641C>T	c.(3640-3642)cCg>cTg	p.P1214L	KIF26A_ENST00000315264.7_Missense_Mutation_p.P1075L	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1214					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCCCGGAAACCGAGGACTGCC	0.721																																						ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(3223-3225)cCg>cTg		kinesin family member 26A							17.0	22.0	21.0					14																	104642766		1956	4126	6082	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104642766C>T	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.3641C>T	14.37:g.104642766C>T	ENSP00000388241:p.Pro1214Leu					KIF26A_ENST00000423312.2_Missense_Mutation_p.P1214L	p.P1075L			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	11	3602	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	1214					Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.3224C>T	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.580981	0.00879	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.76448	-1.02;-1.02	3.6	0.264	0.15607	.	.	.	.	.	T	0.68146	0.2969	M	0.64404	1.975	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.51601	-0.8685	9	0.21540	T	0.41	.	4.6768	0.12715	0.2952:0.5102:0.0:0.1946	.	1214	Q9ULI4	KI26A_HUMAN	L	1214;1075	ENSP00000388241:P1214L;ENSP00000325452:P1075L	ENSP00000325452:P1075L	P	+	2	0	KIF26A	103712519	0.002000	0.14202	0.002000	0.10522	0.106000	0.19336	0.517000	0.22832	0.199000	0.20427	-1.026000	0.02426	CCG		0.721	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			13	12	0	0	0	1	0	13	12				
WDR60	55112	broad.mit.edu	37	7	158738284	158738284	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr7:158738284G>T	ENST00000407559.3	+	25	3173	c.3015G>T	c.(3013-3015)atG>atT	p.M1005I		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	1005					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TGGTGGCCATGGCTGCGGTGG	0.607																																						ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.(3013-3015)atG>atT		WD repeat domain 60							10.0	14.0	13.0					7																	158738284		2062	4200	6262	SO:0001583	missense	55112							g.chr7:158738284G>T		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.3015G>T	7.37:g.158738284G>T	ENSP00000384290:p.Met1005Ile						p.M1005I	NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	25	3173	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	1005					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.3015G>T	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235973	0.58886	.	.	ENSG00000126870	ENST00000407559	T	0.25250	1.81	5.36	4.47	0.54385	WD40 repeat-like-containing domain (1);	0.156902	0.64402	D	0.000017	T	0.34366	0.0895	M	0.74258	2.255	0.44570	D	0.997537	P;P	0.48998	0.745;0.918	B;P	0.44422	0.231;0.449	T	0.30592	-0.9973	10	0.62326	D	0.03	-44.8612	14.0761	0.64891	0.0766:0.0:0.9234:0.0	.	488;1005	A4D230;Q8WVS4	.;WDR60_HUMAN	I	1005	ENSP00000384290:M1005I	ENSP00000384290:M1005I	M	+	3	0	WDR60	158431045	1.000000	0.71417	0.989000	0.46669	0.323000	0.28346	4.748000	0.62148	2.680000	0.91292	0.561000	0.74099	ATG		0.607	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		15	20	1	0	2.31682e-05	1	2.44921e-05	15	20				
LEPREL1	55214	broad.mit.edu	37	3	189702338	189702338	+	Splice_Site	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:189702338C>T	ENST00000319332.5	-	7	1427		c.e7+1		LEPREL1_ENST00000427335.2_Splice_Site	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1						collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AATGGACTTACCGATTCTCAT	0.338																																						ENST00000319332.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41						c.e7+1		leprecan-like 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						157.0	149.0	152.0					3																	189702338		2203	4300	6503	SO:0001630	splice_region_variant	55214				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr3:189702338C>T		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1229+1G>A	3.37:g.189702338C>T						LEPREL1_ENST00000427335.2_Splice_Site		NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	7	1427	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)							B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Splice_Site	SNP	ENST00000319332.5	37		CCDS3294.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140326	0.77775	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7841	0.91947	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LEPREL1	191185032	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.595000	0.67563	2.785000	0.95823	0.655000	0.94253	.		0.338	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192	Intron	30	117	0	0	0	1	0	30	117				
DSG4	147409	broad.mit.edu	37	18	28993242	28993242	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr18:28993242C>A	ENST00000308128.4	+	16	2942	c.2807C>A	c.(2806-2808)aCc>aAc	p.T936N	DSG4_ENST00000359747.4_Missense_Mutation_p.T955N|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	936					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTTGTAGTAACCGAAGCAGTA	0.408																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(2863-2865)aCc>aAc		desmoglein 4							182.0	167.0	172.0					18																	28993242		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28993242C>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2807C>A	18.37:g.28993242C>A	ENSP00000311859:p.Thr936Asn					RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.T936N	p.T955N	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2893	+			936					A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.2864C>A	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505186	0.44558	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.79653	-1.29;-1.29	5.51	5.51	0.81932	.	0.000000	0.35772	N	0.002982	D	0.90202	0.6937	M	0.79123	2.44	0.42100	D	0.991339	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91231	0.5014	10	0.87932	D	0	.	19.0134	0.92884	0.0:1.0:0.0:0.0	.	955;936	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	N	936;955	ENSP00000311859:T936N;ENSP00000352785:T955N	ENSP00000311859:T936N	T	+	2	0	DSG4	27247240	0.982000	0.34865	0.895000	0.35142	0.062000	0.15995	5.334000	0.65923	2.563000	0.86464	0.655000	0.94253	ACC		0.408	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		60	90	1	0	6.20203e-27	1	7.32368e-27	60	90				
DCBLD2	131566	broad.mit.edu	37	3	98538045	98538045	+	Splice_Site	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:98538045C>T	ENST00000326840.6	-	8	1450		c.e8+1		DCBLD2_ENST00000326857.9_Splice_Site	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2						cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TGTCTCTTAACCTGTTATTTT	0.318																																						ENST00000326840.6																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						c.e8+1		discoidin, CUB and LCCL domain containing 2							26.0	22.0	24.0					3																	98538045		1775	4022	5797	SO:0001630	splice_region_variant	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98538045C>T		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.1087+1G>A	3.37:g.98538045C>T						DCBLD2_ENST00000326857.9_Splice_Site		NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN			8	1450	-								B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Splice_Site	SNP	ENST00000326840.6	37		CCDS46878.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686437	0.68157	.	.	ENSG00000057019	ENST00000326840;ENST00000404023;ENST00000326857	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6977	0.85340	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DCBLD2	100020735	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.173000	0.77612	2.616000	0.88540	0.585000	0.79938	.		0.318	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927	Intron	3	6	0	0	0	1	0	3	6				
WTAPP1	100288077	broad.mit.edu	37	11	102702853	102702853	+	RNA	SNP	C	C	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr11:102702853C>G	ENST00000525739.2	+	0	1416					NR_038390.1				Wilms tumor 1 associated protein pseudogene 1																		CAGTCATATTCTCAGTCAAGG	0.488																																						ENST00000525739.2																			0																																																			100288077							g.chr11:102702853C>G			11q22.2	2012-06-29			ENSG00000255282	ENSG00000255282			44115	pseudogene	pseudogene							Standard	NR_038390		Approved		uc001phh.1		OTTHUMG00000165847		11.37:g.102702853C>G								NR_038390.1						0	1416	+									RNA	SNP	ENST00000525739.2	37																																																																																						0.488	WTAPP1-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000398318.1	NR_038390		2	4	0	0	0	1	0	2	4				
SERPINB12	89777	broad.mit.edu	37	18	61231287	61231287	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr18:61231287C>G	ENST00000269491.1	+	5	579	c.579C>G	c.(577-579)ttC>ttG	p.F193L	SERPINB12_ENST00000382768.1_Missense_Mutation_p.F213L	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	193					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						CTGTTTACTTCAAGGCCAAAT	0.413																																						ENST00000382768.1																			0				kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						c.(637-639)ttC>ttG		serpin peptidase inhibitor, clade B (ovalbumin), member 12							222.0	189.0	200.0					18																	61231287		2203	4300	6503	SO:0001583	missense	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61231287C>G	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.579C>G	18.37:g.61231287C>G	ENSP00000269491:p.Phe193Leu					SERPINB12_ENST00000269491.1_Missense_Mutation_p.F193L	p.F213L			Q96P63	SPB12_HUMAN			5	639	+			193					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.639C>G	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412643	0.83340	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.92149	-2.98;-2.98	5.57	4.66	0.58398	Serpin domain (3);	0.000000	0.64402	D	0.000001	D	0.95274	0.8467	M	0.89030	3	0.44188	D	0.997005	D;D	0.63046	0.992;0.992	P;P	0.58873	0.847;0.698	D	0.95223	0.8335	10	0.87932	D	0	.	9.3833	0.38327	0.0:0.8299:0.0:0.1701	.	213;193	Q3SYB4;Q96P63	.;SPB12_HUMAN	L	193;213	ENSP00000269491:F193L;ENSP00000372218:F213L	ENSP00000269491:F193L	F	+	3	2	SERPINB12	59382267	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	0.944000	0.29043	1.406000	0.46857	-0.345000	0.07892	TTC		0.413	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		6	77	0	0	0	1	0	6	77				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	36	0	0	0	1	0	3	36				
ATXN1	6310	broad.mit.edu	37	6	16327454	16327454	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr6:16327454A>G	ENST00000244769.4	-	8	2024	c.1088T>C	c.(1087-1089)gTc>gCc	p.V363A	ATXN1_ENST00000436367.1_Missense_Mutation_p.V363A	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	363					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCTCGGGTGGACCACCACGTG	0.682																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(1087-1089)gTc>gCc		ataxin 1							80.0	90.0	87.0					6																	16327454		2203	4300	6503	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327454A>G	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1088T>C	6.37:g.16327454A>G	ENSP00000244769:p.Val363Ala					ATXN1_ENST00000436367.1_Missense_Mutation_p.V363A	p.V363A	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	2024	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	363					Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.1088T>C	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.233092	0.79688	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.78481	-1.18;-1.18	4.76	4.76	0.60689	.	0.129255	0.52532	D	0.000080	T	0.76615	0.4012	L	0.34521	1.04	0.43517	D	0.995787	D	0.64830	0.994	D	0.70716	0.97	T	0.79883	-0.1615	10	0.52906	T	0.07	-27.3702	14.2825	0.66221	1.0:0.0:0.0:0.0	.	363	P54253	ATX1_HUMAN	A	363	ENSP00000244769:V363A;ENSP00000416360:V363A	ENSP00000244769:V363A	V	-	2	0	ATXN1	16435433	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	8.675000	0.91195	1.773000	0.52216	0.459000	0.35465	GTC		0.682	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		43	159	0	0	0	1	0	43	159				
RIF1	55183	broad.mit.edu	37	2	152322482	152322482	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr2:152322482G>T	ENST00000243326.5	+	29	6931	c.6448G>T	c.(6448-6450)Gaa>Taa	p.E2150*	RIF1_ENST00000430328.2_Nonsense_Mutation_p.E2150*|RIF1_ENST00000428287.2_Nonsense_Mutation_p.E2150*|RIF1_ENST00000453091.2_Nonsense_Mutation_p.E2150*|RIF1_ENST00000444746.2_Nonsense_Mutation_p.E2150*			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAAACTAAGGGAACTTGATCC	0.443																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(6448-6450)Gaa>Taa		RAP1 interacting factor homolog (yeast)							111.0	104.0	106.0					2																	152322482		2203	4300	6503	SO:0001587	stop_gained	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152322482G>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6448G>T	2.37:g.152322482G>T	ENSP00000243326:p.Glu2150*					RIF1_ENST00000444746.2_Nonsense_Mutation_p.E2150*|RIF1_ENST00000428287.2_Nonsense_Mutation_p.E2150*|RIF1_ENST00000453091.2_Nonsense_Mutation_p.E2150*|RIF1_ENST00000430328.2_Nonsense_Mutation_p.E2150*	p.E2150*			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	6931	+			2150			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	Nonsense_Mutation	SNP	ENST00000243326.5	37	c.6448G>T	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	G	37	6.135745	0.97315	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	.	.	.	5.9	5.01	0.66863	.	0.374017	0.33199	N	0.005165	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-13.8289	16.0991	0.81158	0.0:0.0:0.865:0.135	.	.	.	.	X	2150	.	ENSP00000243326:E2150X	E	+	1	0	RIF1	152030728	0.899000	0.30636	0.493000	0.27502	0.944000	0.59088	4.008000	0.57103	1.475000	0.48197	-0.188000	0.12872	GAA		0.443	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			16	74	1	0	9.16793e-09	1	1.01764e-08	16	74				
VCAN	1462	broad.mit.edu	37	5	82837453	82837453	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:82837453A>T	ENST00000265077.3	+	8	9196	c.8631A>T	c.(8629-8631)aaA>aaT	p.K2877N	VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.K1890N|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2877	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CGACTTTCAAACCATCAAGTG	0.423																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(8629-8631)aaA>aaT		versican							81.0	86.0	84.0					5																	82837453		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82837453A>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8631A>T	5.37:g.82837453A>T	ENSP00000265077:p.Lys2877Asn					VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.K1890N|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron	p.K2877N	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	9196	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2877			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.8631A>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	15.45	2.838281	0.51057	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	D;D	0.89343	-2.49;-2.5	5.93	-1.89	0.07689	.	0.696409	0.13553	N	0.379364	D	0.86151	0.5864	L	0.42245	1.32	0.58432	D	0.999999	D;D	0.59767	0.96;0.986	P;P	0.54060	0.643;0.741	T	0.80594	-0.1313	10	0.30854	T	0.27	.	7.1543	0.25628	0.4759:0.0:0.4107:0.1134	.	1890;2877	P13611-2;P13611	.;CSPG2_HUMAN	N	2877;1890	ENSP00000265077:K2877N;ENSP00000340062:K1890N	ENSP00000265077:K2877N	K	+	3	2	VCAN	82873209	1.000000	0.71417	0.292000	0.24919	0.260000	0.26232	1.021000	0.30040	-0.189000	0.10482	-0.250000	0.11733	AAA		0.423	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		6	92	0	0	0	1	0	6	92				
KANK4	163782	broad.mit.edu	37	1	62739445	62739445	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:62739445C>G	ENST00000371153.4	-	3	1709	c.1331G>C	c.(1330-1332)aGc>aCc	p.S444T	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	444						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTGCCCCCAGCTTTCAGACTC	0.557																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(1330-1332)aGc>aCc		KN motif and ankyrin repeat domains 4							174.0	170.0	171.0					1																	62739445		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62739445C>G	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1331G>C	1.37:g.62739445C>G	ENSP00000360195:p.Ser444Thr					KANK4_ENST00000354381.3_Intron	p.S444T	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN			3	1709	-			444					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.1331G>C	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	9.077	0.998346	0.19121	.	.	ENSG00000132854	ENST00000371153	T	0.45668	0.89	5.48	1.52	0.23074	.	0.310813	0.23569	N	0.046768	T	0.29355	0.0731	L	0.50333	1.59	0.19300	N	0.99997	B	0.29716	0.255	B	0.24394	0.053	T	0.13791	-1.0496	10	0.37606	T	0.19	-6.9246	4.609	0.12392	0.1428:0.5532:0.0:0.304	.	444	Q5T7N3	KANK4_HUMAN	T	444	ENSP00000360195:S444T	ENSP00000360195:S444T	S	-	2	0	KANK4	62512033	0.000000	0.05858	0.848000	0.33437	0.008000	0.06430	0.248000	0.18198	0.097000	0.17492	-0.181000	0.13052	AGC		0.557	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		82	172	0	0	0	1	0	82	172				
SPTBN4	57731	broad.mit.edu	37	19	41010033	41010033	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr19:41010033G>T	ENST00000352632.3	+	12	1745	c.1659G>T	c.(1657-1659)gaG>gaT	p.E553D	SPTBN4_ENST00000344104.3_Missense_Mutation_p.E553D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E553D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E553D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E553D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	553					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGATGGAGGAGATGCAGGTGC	0.622																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(1657-1659)gaG>gaT		spectrin, beta, non-erythrocytic 4							24.0	33.0	30.0					19																	41010033		2202	4298	6500	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41010033G>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1659G>T	19.37:g.41010033G>T	ENSP00000263373:p.Glu553Asp					SPTBN4_ENST00000344104.3_Missense_Mutation_p.E553D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E553D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E553D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E553D	p.E553D			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		12	1745	+			553					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.1659G>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	g	11.76	1.734777	0.30774	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.54071	0.59;0.59;0.59	4.43	0.819	0.18785	.	0.268590	0.29212	N	0.012804	T	0.29458	0.0734	N	0.20881	0.62	0.80722	D	1	B;B	0.13594	0.0;0.008	B;B	0.15870	0.0;0.014	T	0.05162	-1.0902	10	0.34782	T	0.22	.	1.7427	0.02955	0.178:0.3032:0.3633:0.1555	.	553;553	Q9H254;Q71S06	SPTN4_HUMAN;.	D	553	ENSP00000263373:E553D;ENSP00000340345:E553D;ENSP00000340741:E553D	ENSP00000340345:E553D	E	+	3	2	SPTBN4	45701873	0.990000	0.36364	1.000000	0.80357	0.985000	0.73830	0.215000	0.17562	0.093000	0.17368	0.472000	0.43445	GAG		0.622	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			7	36	1	0	0.0381472	1	0.038494	7	36				
GLI2	2736	broad.mit.edu	37	2	121747782	121747782	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr2:121747782C>T	ENST00000452319.1	+	14	4352	c.4292C>T	c.(4291-4293)cCg>cTg	p.P1431L	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.P1431L					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTCCCCAGCCGCCTCCGCAG	0.652																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4291-4293)cCg>cTg		GLI family zinc finger 2							36.0	41.0	39.0					2																	121747782		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121747782C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4292C>T	2.37:g.121747782C>T	ENSP00000390436:p.Pro1431Leu					GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.P1431L	p.P1431L			P10070	GLI2_HUMAN			14	4352	+	Renal(3;0.0496)	Prostate(154;0.0623)	1431						Missense_Mutation	SNP	ENST00000452319.1	37	c.4292C>T	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	0.513	-0.865511	0.02590	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.13307	2.6;2.6	4.38	-1.37	0.09056	.	0.511002	0.14683	N	0.304631	T	0.08133	0.0203	L	0.31294	0.92	0.09310	N	0.999995	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.36696	-0.9737	9	.	.	.	.	7.7689	0.28997	0.0:0.348:0.0:0.652	.	1431;1086	P10070;P10070-2	GLI2_HUMAN;.	L	1431	ENSP00000390436:P1431L;ENSP00000354586:P1431L	.	P	+	2	0	GLI2	121464252	0.000000	0.05858	0.012000	0.15200	0.010000	0.07245	-0.320000	0.08028	-0.156000	0.11079	-0.391000	0.06502	CCG		0.652	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		52	52	0	0	0	1	0	52	52				
PBRM1	55193	broad.mit.edu	37	3	52597491	52597491	+	Silent	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:52597491C>T	ENST00000296302.7	-	24	3895	c.3894G>A	c.(3892-3894)caG>caA	p.Q1298Q	PBRM1_ENST00000409767.1_Silent_p.Q1313Q|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Silent_p.Q1273Q|RNU6ATAC16P_ENST00000408591.1_RNA|PBRM1_ENST00000409057.1_Silent_p.Q1298Q|PBRM1_ENST00000394830.3_Silent_p.Q1273Q|PBRM1_ENST00000356770.4_Silent_p.Q1266Q|PBRM1_ENST00000409114.3_Silent_p.Q1313Q|PBRM1_ENST00000337303.4_Silent_p.Q1298Q			Q86U86	PB1_HUMAN	polybromo 1	1298					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGGCTCCTTCTGAGGAACAA	0.413			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(3796-3798)caG>caA		polybromo 1							106.0	98.0	101.0					3																	52597491		2203	4300	6503	SO:0001819	synonymous_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52597491C>T	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3894G>A	3.37:g.52597491C>T						SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000296302.7_Silent_p.Q1298Q|PBRM1_ENST00000409057.1_Silent_p.Q1298Q|PBRM1_ENST00000409114.3_Silent_p.Q1313Q|PBRM1_ENST00000394830.3_Silent_p.Q1273Q|PBRM1_ENST00000337303.4_Silent_p.Q1298Q|PBRM1_ENST00000409767.1_Silent_p.Q1313Q|PBRM1_ENST00000410007.1_Silent_p.Q1273Q	p.Q1266Q			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	23	3800	-			1298			BAH 2.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37	c.3798G>A																																																																																					0.413	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		5	87	0	0	0	1	0	5	87				
DCLK2	166614	broad.mit.edu	37	4	151168850	151168850	+	Splice_Site	SNP	A	A	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr4:151168850A>T	ENST00000296550.7	+	13	2628	c.1874A>T	c.(1873-1875)aAg>aTg	p.K625M	DCLK2_ENST00000506325.1_Splice_Site_p.K624M|DCLK2_ENST00000302176.8_Splice_Site_p.K642M	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	625	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GACTCTGCCAAGGTACCCTCC	0.532																																					GBM(195;186 2215 13375 16801 37459)	ENST00000296550.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26						c.e13+1		doublecortin-like kinase 2							62.0	63.0	62.0					4																	151168850		2203	4300	6503	SO:0001630	splice_region_variant	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151168850A>T	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1875+1A>T	4.37:g.151168850A>T						DCLK2_ENST00000506325.1_Splice_Site_p.K624_splice|DCLK2_ENST00000302176.8_Splice_Site_p.K642_splice	p.K625_splice	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN			13	2628	+	all_hematologic(180;0.151)		625			Protein kinase.		C9J5Q9|Q59GC8|Q8N399	Splice_Site	SNP	ENST00000296550.7	37	c.1875_splice	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.555006	0.86231	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.69175	-0.38;-0.38;-0.38	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84352	0.5453	M	0.87900	2.915	0.80722	D	1	D;D;P	0.89917	0.991;1.0;0.887	P;D;P	0.87578	0.885;0.998;0.854	D	0.87116	0.2188	10	0.87932	D	0	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	642;624;625	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	M	625;624;642	ENSP00000296550:K625M;ENSP00000427235:K624M;ENSP00000303887:K642M	ENSP00000296550:K625M	K	+	2	0	DCLK2	151388300	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.962000	0.93254	2.254000	0.74563	0.533000	0.62120	AAG		0.532	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260	Missense_Mutation	14	48	0	0	0	1	0	14	48				
KIAA2018	205717	broad.mit.edu	37	3	113375895	113375895	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:113375895G>C	ENST00000478658.1	-	5	4651	c.4634C>G	c.(4633-4635)aCt>aGt	p.T1545S	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.T1545S			Q68DE3	K2018_HUMAN	KIAA2018	1545	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGATTGGTCAGTTCCATGGTG	0.512																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(4633-4635)aCt>aGt		KIAA2018							100.0	99.0	99.0					3																	113375895		2020	4189	6209	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113375895G>C	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4634C>G	3.37:g.113375895G>C	ENSP00000420721:p.Thr1545Ser					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.T1545S	p.T1545S	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	5044	-			1545			Gln-rich.		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.4634C>G	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	6.352	0.433135	0.12045	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.34472	1.36;1.36	5.84	0.546	0.17196	.	0.445734	0.23914	N	0.043307	T	0.15565	0.0375	N	0.04508	-0.205	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.21861	-1.0233	10	0.31617	T	0.26	-6.7882	10.2384	0.43297	0.0:0.3678:0.3677:0.2645	.	1545	Q68DE3	K2018_HUMAN	S	1545	ENSP00000320794:T1545S;ENSP00000420721:T1545S	ENSP00000320794:T1545S	T	-	2	0	KIAA2018	114858585	1.000000	0.71417	0.848000	0.33437	0.549000	0.35272	1.168000	0.31859	0.331000	0.23511	0.655000	0.94253	ACT		0.512	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		24	87	0	0	0	1	0	24	87				
PFKM	5213	broad.mit.edu	37	12	48526799	48526799	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr12:48526799G>A	ENST00000312352.7	+	5	425	c.386G>A	c.(385-387)cGt>cAt	p.R129H	PFKM_ENST00000340802.6_Missense_Mutation_p.R200H|PFKM_ENST00000547587.1_Missense_Mutation_p.R129H|PFKM_ENST00000551804.1_Missense_Mutation_p.R129H|PFKM_ENST00000395233.2_Missense_Mutation_p.R129H|PFKM_ENST00000359794.5_Missense_Mutation_p.R129H	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	129	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GACACCTTCCGTTCTGAGTGG	0.527																																						ENST00000340802.6																			0				NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(598-600)cGt>cAt		phosphofructokinase, muscle							107.0	104.0	105.0					12																	48526799		2203	4300	6503	SO:0001583	missense	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48526799G>A	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.386G>A	12.37:g.48526799G>A	ENSP00000309438:p.Arg129His					PFKM_ENST00000359794.5_Missense_Mutation_p.R129H|PFKM_ENST00000551804.1_Missense_Mutation_p.R129H|PFKM_ENST00000312352.7_Missense_Mutation_p.R129H|PFKM_ENST00000395233.2_Missense_Mutation_p.R129H|PFKM_ENST00000547587.1_Missense_Mutation_p.R129H	p.R200H	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN			7	823	+			129					J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	c.599G>A	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835955	0.91117	.	.	ENSG00000152556	ENST00000550345;ENST00000340802;ENST00000359794;ENST00000551339;ENST00000395233;ENST00000548345;ENST00000551804;ENST00000549022;ENST00000547587;ENST00000312352	T;T;T;T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	4.57	3.68	0.42216	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.87924	0.6300	M	0.70787	2.145	0.58432	D	0.999999	D;D;P	0.89917	1.0;0.999;0.956	D;D;B	0.73708	0.981;0.957;0.391	D	0.89491	0.3757	10	0.87932	D	0	-11.6279	13.9509	0.64116	0.0:0.0:0.8464:0.1536	.	129;129;200	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	H	129;200;129;129;129;129;129;129;129;129	ENSP00000450369:R129H;ENSP00000345771:R200H;ENSP00000352842:R129H;ENSP00000448253:R129H;ENSP00000378656:R129H;ENSP00000449269:R129H;ENSP00000448177:R129H;ENSP00000446805:R129H;ENSP00000449426:R129H;ENSP00000309438:R129H	ENSP00000309438:R129H	R	+	2	0	PFKM	46813066	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	1.513000	0.48852	0.650000	0.86243	CGT		0.527	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		22	78	0	0	0	1	0	22	78				
ENTPD8	377841	broad.mit.edu	37	9	140331717	140331717	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr9:140331717C>T	ENST00000472938.1	-	3	305	c.289G>A	c.(289-291)Gag>Aag	p.E97K	ENTPD8_ENST00000371506.2_Missense_Mutation_p.E97K|ENTPD8_ENST00000344119.2_Missense_Mutation_p.E97K			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	97					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGCAGGCTCTCACCAGCCTGT	0.637																																						ENST00000371506.2																			0				biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7						c.(289-291)Gag>Aag		ectonucleoside triphosphate diphosphohydrolase 8							52.0	57.0	55.0					9																	140331717		2203	4300	6503	SO:0001583	missense	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140331717C>T	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.289G>A	9.37:g.140331717C>T	ENSP00000420531:p.Glu97Lys					ENTPD8_ENST00000472938.1_Missense_Mutation_p.E97K|ENTPD8_ENST00000344119.2_Missense_Mutation_p.E97K	p.E97K	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	4	472	-	all_cancers(76;0.0926)		97					A2BG17|Q6UVZ0	Missense_Mutation	SNP	ENST00000472938.1	37	c.289G>A	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	C	5.718	0.316997	0.10845	.	.	ENSG00000188833	ENST00000344119;ENST00000371506;ENST00000472938;ENST00000493135	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	4.37	3.44	0.39384	.	0.288820	0.27981	N	0.017067	T	0.07052	0.0179	L	0.28344	0.845	0.38972	D	0.958777	P;B	0.35011	0.48;0.392	B;B	0.37943	0.13;0.261	T	0.24657	-1.0154	10	0.09084	T	0.74	-6.1791	8.3109	0.32071	0.0:0.8128:0.0:0.1872	.	97;97	Q5MY95-2;Q5MY95	.;ENTP8_HUMAN	K	97;97;97;84	ENSP00000344089:E97K;ENSP00000360561:E97K;ENSP00000420531:E97K;ENSP00000420099:E84K	ENSP00000344089:E97K	E	-	1	0	ENTPD8	139451538	0.000000	0.05858	0.926000	0.36857	0.568000	0.35870	0.398000	0.20899	2.275000	0.75901	0.561000	0.74099	GAG		0.637	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		12	89	0	0	0	1	0	12	89				
POLD1	5424	broad.mit.edu	37	19	50916759	50916759	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr19:50916759G>T	ENST00000440232.2	+	18	2284	c.2231G>T	c.(2230-2232)gGc>gTc	p.G744V	POLD1_ENST00000599857.1_Missense_Mutation_p.G744V|CTD-2545M3.6_ENST00000599632.1_5'Flank|POLD1_ENST00000595904.1_Missense_Mutation_p.G770V	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	744					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GTGGAGAATGGCTACAGCACC	0.637								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2230-2232)gGc>gTc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							66.0	52.0	57.0					19																	50916759		2203	4300	6503	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50916759G>T		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2231G>T	19.37:g.50916759G>T	ENSP00000406046:p.Gly744Val					POLD1_ENST00000595904.1_Missense_Mutation_p.G770V|POLD1_ENST00000599857.1_Missense_Mutation_p.G744V	p.G744V	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	18	2284	+		all_neural(266;0.0571)	744					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.2231G>T	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127503	0.77549	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.18810	2.19	4.3	4.3	0.51218	DNA polymerase, palm domain (1);DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	H	0.99464	4.58	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.991	D	0.83385	0.0014	10	0.87932	D	0	-42.2447	15.952	0.79846	0.0:0.0:1.0:0.0	.	770;744	E7EVW0;P28340	.;DPOD1_HUMAN	V	744;745	ENSP00000406046:G744V	ENSP00000366129:G745V	G	+	2	0	POLD1	55608571	1.000000	0.71417	0.859000	0.33776	0.885000	0.51271	8.215000	0.89762	2.139000	0.66308	0.556000	0.70494	GGC		0.637	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			4	16	1	0	0.150653	1	0.150653	4	16				
BRDT	676	broad.mit.edu	37	1	92445292	92445292	+	Missense_Mutation	SNP	G	G	A	rs140481537		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:92445292G>A	ENST00000362005.3	+	9	1683	c.1265G>A	c.(1264-1266)cGt>cAt	p.R422H	BRDT_ENST00000370389.2_Missense_Mutation_p.R349H|BRDT_ENST00000402388.1_Missense_Mutation_p.R422H|BRDT_ENST00000394530.3_Missense_Mutation_p.R376H|BRDT_ENST00000399546.2_Missense_Mutation_p.R422H	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	422					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CGAGTTAAGCGTCTTGCAAAG	0.373																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1045-1047)cGt>cAt		bromodomain, testis-specific		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	94.0	93.0	93.0		1265,1277,1127,1127,1046,1265,1265	1.5	1.0	1	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	BRDT	NM_001242805.1,NM_001242806.1,NM_001242807.1,NM_001242808.1,NM_001242810.1,NM_001726.3,NM_207189.2	29,29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	422/948,426/952,376/902,376/902,349/875,422/948,422/948	92445292	1,13005	2203	4300	6503	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92445292G>A	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1265G>A	1.37:g.92445292G>A	ENSP00000354568:p.Arg422His					BRDT_ENST00000399546.2_Missense_Mutation_p.R422H|BRDT_ENST00000362005.3_Missense_Mutation_p.R422H|BRDT_ENST00000402388.1_Missense_Mutation_p.R422H|BRDT_ENST00000394530.3_Missense_Mutation_p.R376H	p.R349H	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	8	1970	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	422			Bromo 2.		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.1046G>A	CCDS735.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.143174	0.37825	0.0	1.16E-4	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1	5.01	1.5	0.22942	.	0.356123	0.25994	N	0.026994	T	0.05547	0.0146	L	0.41415	1.275	0.24107	N	0.995854	B;B;B;B	0.21381	0.032;0.032;0.055;0.032	B;B;B;B	0.15870	0.003;0.003;0.014;0.003	T	0.31696	-0.9934	10	0.41790	T	0.15	-0.7581	7.4096	0.27009	0.4548:0.0:0.5452:0.0	.	376;376;426;422	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	H	422;349;422;422;376;422;422	ENSP00000354568:R422H;ENSP00000359416:R349H;ENSP00000387822:R422H;ENSP00000378038:R376H;ENSP00000404969:R422H;ENSP00000384051:R422H	ENSP00000354568:R422H	R	+	2	0	BRDT	92217880	0.003000	0.15002	0.992000	0.48379	0.913000	0.54294	1.439000	0.35013	0.613000	0.30089	-0.140000	0.14226	CGT		0.373	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		22	90	0	0	0	1	0	22	90				
SFXN2	118980	broad.mit.edu	37	10	104486509	104486509	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr10:104486509C>G	ENST00000369893.5	+	2	283	c.116C>G	c.(115-117)tCt>tGt	p.S39C	SFXN2_ENST00000602785.1_3'UTR	NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	39					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GTCTTTGTATCTGAGCGGGAG	0.582																																						ENST00000369893.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13						c.(115-117)tCt>tGt		sideroflexin 2							73.0	74.0	74.0					10																	104486509		2203	4300	6503	SO:0001583	missense	118980				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity	g.chr10:104486509C>G	AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"""Sideroflexins"""	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.116C>G	10.37:g.104486509C>G	ENSP00000358909:p.Ser39Cys					SFXN2_ENST00000602785.1_3'UTR	p.S39C	NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)	2	283	+		Colorectal(252;0.207)	39					Q5JSM6	Missense_Mutation	SNP	ENST00000369893.5	37	c.116C>G	CCDS7539.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259484	0.59321	.	.	ENSG00000156398	ENST00000369893	T	0.36340	1.26	5.63	5.63	0.86233	.	0.408050	0.30293	N	0.009949	T	0.66056	0.2751	M	0.91972	3.26	0.48975	D	0.999739	P	0.47910	0.902	P	0.55871	0.786	T	0.73607	-0.3929	10	0.87932	D	0	-6.0537	19.6913	0.96002	0.0:1.0:0.0:0.0	.	39	Q96NB2	SFXN2_HUMAN	C	39	ENSP00000358909:S39C	ENSP00000358909:S39C	S	+	2	0	SFXN2	104476499	0.595000	0.26857	0.797000	0.32132	0.003000	0.03518	4.829000	0.62737	2.654000	0.90174	0.561000	0.74099	TCT		0.582	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050096.2	XM_058359		6	69	0	0	0	1	0	6	69				
GSTM5	2949	broad.mit.edu	37	1	110256075	110256075	+	Intron	SNP	A	A	G	rs2479390	byFrequency	TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:110256075A>G	ENST00000256593.3	+	4	235				GSTM5_ENST00000369812.5_Silent_p.Q68Q|GSTM5_ENST00000369813.1_Silent_p.Q8Q	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5						glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TGGTGGCCCAACTGAGCTTCC	0.572													A|||	359	0.0716853	0.0166	0.1182	5008	,	,		19846	0.0		0.2227	False		,,,				2504	0.0317					ENST00000369813.1																			0				NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21						c.(22-24)caA>caG		glutathione S-transferase mu 5	Glutathione(DB00143)	A		180,4226	116.7+/-154.6	3,174,2026	134.0	114.0	121.0			-8.5	0.0	1	dbSNP_100	121	1793,6803	317.9+/-313.4	191,1411,2696	no	intron	GSTM5	NM_000851.3		194,1585,4722	GG,GA,AA		20.8585,4.0853,15.1746			110256075	1973,11029	2203	4298	6501	SO:0001627	intron_variant	2949				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110256075A>G	L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4637	protein-coding gene	gene with protein product		138385	"""glutathione S-transferase M5"""			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.178-31A>G	1.37:g.110256075A>G						GSTM5_ENST00000369812.5_Silent_p.Q68Q|GSTM5_ENST00000256593.3_Intron	p.Q8Q			P46439	GSTM5_HUMAN		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	929	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	0			GST N-terminal.|Glutathione binding (By similarity).		A8K0V8|Q6PD78	Silent	SNP	ENST00000256593.3	37	c.24A>G	CCDS811.1																																																																																				0.572	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	NM_000851		6	149	0	0	0	1	0	6	149				
MED13L	23389	broad.mit.edu	37	12	116413040	116413040	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr12:116413040C>G	ENST00000281928.3	-	25	5873	c.5667G>C	c.(5665-5667)atG>atC	p.M1889I		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1889						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GTAGAGATGTCATTTGGACAA	0.443																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(5665-5667)atG>atC		mediator complex subunit 13-like							91.0	85.0	87.0					12																	116413040		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116413040C>G	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5667G>C	12.37:g.116413040C>G	ENSP00000281928:p.Met1889Ile						p.M1889I	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	25	5873	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1889					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.5667G>C	CCDS9177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.670193|4.670193	0.88348|0.88348	.|.	.|.	ENSG00000123066|ENSG00000123066	ENST00000552447|ENST00000281928	.|D	.|0.82893	.|-1.66	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.074656	.|0.85682	.|D	.|0.000000	T|T	0.80407|0.80407	0.4617|0.4617	M|M	0.68317|0.68317	2.08|2.08	0.53005|0.53005	D|D	0.999967|0.999967	.|P	.|0.34462	.|0.454	.|B	.|0.31016	.|0.123	T|T	0.79055|0.79055	-0.1960|-0.1960	5|10	.|0.42905	.|T	.|0.14	.|.	13.5704|13.5704	0.61843|0.61843	0.0:0.9289:0.0:0.0711|0.0:0.9289:0.0:0.0711	.|.	.|1889	.|Q71F56	.|MD13L_HUMAN	H|I	94|1889	.|ENSP00000281928:M1889I	.|ENSP00000281928:M1889I	D|M	-|-	1|3	0|0	MED13L|MED13L	114897423|114897423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.438000|7.438000	0.80431|0.80431	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GAC|ATG		0.443	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			26	54	0	0	0	1	0	26	54				
CASR	846	broad.mit.edu	37	3	121973097	121973097	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:121973097G>A	ENST00000490131.1	+	2	433	c.61G>A	c.(61-63)Ggg>Agg	p.G21R	CASR_ENST00000498619.1_Missense_Mutation_p.G21R|CASR_ENST00000296154.5_Missense_Mutation_p.G21R	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	21			G -> R (in HHC1). {ECO:0000269|PubMed:17698911}.		anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTCTGCCTACGGGCCAGACCA	0.527																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84	GRCh37	CM076073	CASR	M		c.(61-63)Ggg>Agg		calcium-sensing receptor	Cinacalcet(DB01012)						98.0	100.0	99.0					3																	121973097		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121973097G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.61G>A	3.37:g.121973097G>A	ENSP00000418685:p.Gly21Arg					CASR_ENST00000490131.1_Missense_Mutation_p.G21R|CASR_ENST00000296154.5_Missense_Mutation_p.G21R	p.G21R	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	2	499	+			21		G -> R (could be associated with FHH).			Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.61G>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267655	0.80469	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.88741	-2.42;-2.42;-2.42	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.94138	0.8120	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.974	D	0.92315	0.5861	10	0.27082	T	0.32	.	18.3392	0.90299	0.0:0.0:1.0:0.0	.	21;21	E7ENE0;P41180	.;CASR_HUMAN	R	21	ENSP00000418685:G21R;ENSP00000420194:G21R;ENSP00000296154:G21R	ENSP00000296154:G21R	G	+	1	0	CASR	123455787	1.000000	0.71417	0.998000	0.56505	0.415000	0.31203	9.810000	0.99221	2.652000	0.90054	0.558000	0.71614	GGG		0.527	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		76	179	0	0	0	1	0	76	179				
SLC38A9	153129	broad.mit.edu	37	5	54929599	54929599	+	Silent	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:54929599G>A	ENST00000396865.2	-	14	2004	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	SLC38A9_ENST00000416547.2_Silent_p.F347F|SLC38A9_ENST00000318672.3_Silent_p.F471F|SLC38A9_ENST00000515629.1_Silent_p.F408F|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000512595.1_Silent_p.F408F	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	471					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AAATGTCACCGAAGATATGGC	0.483																																						ENST00000396865.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(1411-1413)ttC>ttT		solute carrier family 38, member 9							108.0	98.0	102.0					5																	54929599		2203	4300	6503	SO:0001819	synonymous_variant	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54929599G>A		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.1413C>T	5.37:g.54929599G>A						SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000515629.1_Silent_p.F408F|SLC38A9_ENST00000416547.2_Silent_p.F347F|SLC38A9_ENST00000318672.3_Silent_p.F471F|SLC38A9_ENST00000512595.1_Silent_p.F408F	p.F471F	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN			14	2004	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	471					B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Silent	SNP	ENST00000396865.2	37	c.1413C>T	CCDS3968.1																																																																																				0.483	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514		24	37	0	0	0	1	0	24	37				
TMEM254	80195	broad.mit.edu	37	10	81838490	81838490	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr10:81838490G>A	ENST00000372281.3	+	1	65	c.35G>A	c.(34-36)cGa>cAa	p.R12Q	TMEM254-AS1_ENST00000448729.2_RNA|TMEM254_ENST00000372275.1_Missense_Mutation_p.R12Q|TMEM254-AS1_ENST00000412298.1_RNA|TMEM254_ENST00000372277.3_Missense_Mutation_p.R12Q|TMEM254-AS1_ENST00000432070.2_RNA|TMEM254_ENST00000372274.1_Missense_Mutation_p.R12Q	NM_001270372.1|NM_025125.3	NP_001257301.1|NP_079401.2	Q8TBM7	TM254_HUMAN	transmembrane protein 254	12						integral component of membrane (GO:0016021)											TACTTTCAGCGAGGCAGTCTG	0.647																																						ENST00000372281.3																			0											c.(34-36)cGa>cAa		transmembrane protein 254							79.0	65.0	70.0					10																	81838490		2202	4300	6502	SO:0001583	missense	80195							g.chr10:81838490G>A	BC022252	CCDS7363.1, CCDS58086.1, CCDS58087.1, CCDS73157.1	10q23.1	2012-11-06	2012-11-06	2012-11-06	ENSG00000133678	ENSG00000133678			25804	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 57"""	C10orf57		14702039	Standard	NM_025125		Approved	FLJ13263, bA369J21.6	uc010qlw.3	Q8TBM7	OTTHUMG00000018602	ENST00000372281.3:c.35G>A	10.37:g.81838490G>A	ENSP00000361355:p.Arg12Gln					TMEM254_ENST00000372275.1_Missense_Mutation_p.R12Q|TMEM254-AS1_ENST00000448729.2_RNA|TMEM254_ENST00000372274.1_Missense_Mutation_p.R12Q|TMEM254-AS1_ENST00000432070.2_RNA|TMEM254_ENST00000372277.3_Missense_Mutation_p.R12Q|TMEM254-AS1_ENST00000412298.1_RNA	p.R12Q	NM_001270372.1|NM_025125.3	NP_001257301.1|NP_079401.2					1	65	+								D3DWC8|Q53HP4|Q5JTC0|Q5JTC1|Q6IA45|Q9H8S6	Missense_Mutation	SNP	ENST00000372281.3	37	c.35G>A	CCDS7363.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397226	0.62177	.	.	ENSG00000133678	ENST00000372281;ENST00000372277;ENST00000372275;ENST00000372274	.	.	.	4.76	3.84	0.44239	.	.	.	.	.	T	0.63153	0.2487	M	0.71036	2.16	0.34864	D	0.742872	D;D	0.76494	0.999;0.975	P;P	0.55667	0.781;0.587	T	0.74728	-0.3567	8	0.59425	D	0.04	.	10.9844	0.47514	0.0:0.1891:0.8109:0.0	.	12;12	Q5JTC0;Q8TBM7	.;CJ057_HUMAN	Q	12	.	ENSP00000361348:R12Q	R	+	2	0	C10orf57	81828470	0.753000	0.28349	0.848000	0.33437	0.075000	0.17131	0.517000	0.22832	1.340000	0.45581	0.462000	0.41574	CGA		0.647	TMEM254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049030.1	NM_025125		4	9	0	0	0	1	0	4	9				
MYO16	23026	broad.mit.edu	37	13	109550430	109550430	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr13:109550430A>G	ENST00000357550.2	+	14	1701	c.1660A>G	c.(1660-1662)Atc>Gtc	p.I554V	MYO16_ENST00000356711.2_Missense_Mutation_p.I554V|MYO16_ENST00000457511.2_Missense_Mutation_p.I66V|MYO16_ENST00000251041.5_Missense_Mutation_p.I554V	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CAGTTGCTTCATCAAGTATTT	0.463																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(1660-1662)Atc>Gtc		myosin XVI							158.0	135.0	142.0					13																	109550430		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109550430A>G		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1660A>G	13.37:g.109550430A>G	ENSP00000350160:p.Ile554Val					MYO16_ENST00000357550.2_Missense_Mutation_p.I554V|MYO16_ENST00000251041.5_Missense_Mutation_p.I554V|MYO16_ENST00000457511.2_Missense_Mutation_p.I66V	p.I554V	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		15	1786	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		554			Myosin head-like 1.			Missense_Mutation	SNP	ENST00000357550.2	37	c.1660A>G	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.793649	0.50102	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59	5.2	4.02	0.46733	Myosin head, motor domain (3);	0.000000	0.44688	U	0.000437	D	0.94676	0.8283	L	0.52126	1.63	0.43787	D	0.996321	D;D;P	0.61080	0.989;0.989;0.95	P;P;P	0.61533	0.89;0.845;0.871	D	0.92886	0.6327	9	.	.	.	.	9.2477	0.37536	0.9139:0.0:0.0861:0.0	.	66;554;554	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	V	554;554;554;554;342;66	ENSP00000349145:I554V;ENSP00000350160:I554V;ENSP00000251041:I554V;ENSP00000401633:I66V	.	I	+	1	0	MYO16	108348431	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.189000	0.72051	0.931000	0.37242	0.460000	0.39030	ATC		0.463	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		18	60	0	0	0	1	0	18	60				
TGIF2LX	90316	broad.mit.edu	37	X	89177094	89177094	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chrX:89177094G>A	ENST00000561129.2	+	1	140	c.10G>A	c.(10-12)Gct>Act	p.A4T	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.A4T			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TATGGAGGCCGCTGCGGACGG	0.512																																						ENST00000561129.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						c.(10-12)Gct>Act		TGFB-induced factor homeobox 2-like, X-linked							43.0	51.0	49.0					X																	89177094		2202	4300	6502	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177094G>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.10G>A	X.37:g.89177094G>A	ENSP00000453704:p.Ala4Thr					TGIF2LX_ENST00000283891.5_Missense_Mutation_p.A4T	p.A4T			Q8IUE1	TF2LX_HUMAN			1	140	+			4					Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.10G>A	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	G	6.854	0.526815	0.13066	.	.	ENSG00000153779	ENST00000283891	T	0.65732	-0.17	2.42	-4.84	0.03151	.	.	.	.	.	T	0.45094	0.1325	L	0.55481	1.735	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.29822	-0.9999	8	.	.	.	.	0.207	0.00152	0.353:0.1493:0.1944:0.3033	.	4	Q8IUE1	TF2LX_HUMAN	T	4	ENSP00000355119:A4T	.	A	+	1	0	TGIF2LX	89063750	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.104000	0.03326	-1.903000	0.01093	-1.266000	0.01441	GCT		0.512	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		20	19	0	0	0	1	0	20	19				
CLCNKA	1187	broad.mit.edu	37	1	16358300	16358300	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:16358300C>G	ENST00000331433.4	+	16	1737	c.1718C>G	c.(1717-1719)tCc>tGc	p.S573C	CLCNKA_ENST00000375692.1_Missense_Mutation_p.S573C|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.S530C|CLCNKA_ENST00000420078.1_Missense_Mutation_p.S573C			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	573	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GTTGTGACCTCCACAGACGTG	0.607																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(1717-1719)tCc>tGc		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						124.0	90.0	102.0					1																	16358300		2202	4300	6502	SO:0001583	missense	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16358300C>G		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1718C>G	1.37:g.16358300C>G	ENSP00000332771:p.Ser573Cys					CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.S573C|CLCNKA_ENST00000439316.2_Missense_Mutation_p.S530C|CLCNKA_ENST00000331433.4_Missense_Mutation_p.S573C	p.S573C			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	17	1846	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	573			CBS 1.		B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.1718C>G	CCDS167.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356629	0.61293	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	4.09	4.09	0.47781	Cystathionine beta-synthase, core (3);	0.479878	0.21653	N	0.071146	D	0.92283	0.7552	M	0.81802	2.56	0.48185	D	0.999605	D;D;D	0.54772	0.968;0.968;0.968	P;P;P	0.55055	0.767;0.767;0.767	D	0.93013	0.6433	10	0.72032	D	0.01	.	12.1381	0.53982	0.0:1.0:0.0:0.0	.	530;573;573	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	C	573;573;530;573	ENSP00000364844:S573C;ENSP00000410353:S573C;ENSP00000414445:S530C;ENSP00000332771:S573C	ENSP00000332771:S573C	S	+	2	0	CLCNKA	16230887	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	2.891000	0.48617	1.975000	0.57531	0.313000	0.20887	TCC		0.607	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			5	79	0	0	0	1	0	5	79				
SECISBP2L	9728	broad.mit.edu	37	15	49284782	49284782	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr15:49284782C>G	ENST00000559471.1	-	18	3228	c.2965G>C	c.(2965-2967)Gaa>Caa	p.E989Q	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E944Q	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	989							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						tcttcttcttcAAGCATGCCA	0.463																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(2965-2967)Gaa>Caa		SECIS binding protein 2-like							77.0	74.0	75.0					15																	49284782		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49284782C>G	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2965G>C	15.37:g.49284782C>G	ENSP00000453854:p.Glu989Gln					SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E944Q	p.E989Q	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			18	3228	-			989					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.2965G>C	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706854	0.89018	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.74737	-0.87	5.19	5.19	0.71726	.	0.059709	0.64402	D	0.000005	T	0.79411	0.4441	L	0.29908	0.895	0.48975	D	0.999737	D;D	0.89917	1.0;1.0	D;D	0.64877	0.915;0.93	T	0.80725	-0.1254	10	0.56958	D	0.05	.	18.9031	0.92451	0.0:1.0:0.0:0.0	.	989;944	Q93073;Q93073-2	SBP2L_HUMAN;.	Q	944;989	ENSP00000261847:E944Q	ENSP00000261847:E944Q	E	-	1	0	SECISBP2L	47072074	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	5.170000	0.64990	2.702000	0.92279	0.655000	0.94253	GAA		0.463	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		26	53	0	0	0	1	0	26	53				
SLC5A12	159963	broad.mit.edu	37	11	26743121	26743121	+	Silent	SNP	T	T	C			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr11:26743121T>C	ENST00000396005.3	-	1	450	c.141A>G	c.(139-141)caA>caG	p.Q47Q	SLC5A12_ENST00000280467.6_Silent_p.Q47Q	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	47					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CAAAGCTCATTTGCCTTCCCC	0.527																																						ENST00000396005.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(139-141)caA>caG		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							71.0	72.0	72.0					11																	26743121		2203	4299	6502	SO:0001819	synonymous_variant	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26743121T>C	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.141A>G	11.37:g.26743121T>C						SLC5A12_ENST00000280467.6_Silent_p.Q47Q	p.Q47Q	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			1	450	-			47					Q86UC7	Silent	SNP	ENST00000396005.3	37	c.141A>G	CCDS7860.2																																																																																				0.527	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		28	75	0	0	0	1	0	28	75				
CAP2	10486	broad.mit.edu	37	6	17426915	17426915	+	Silent	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr6:17426915G>A	ENST00000229922.2	+	3	748	c.216G>A	c.(214-216)gaG>gaA	p.E72E	CAP2_ENST00000465994.1_Silent_p.E72E|CAP2_ENST00000493172.1_Silent_p.E72E|CAP2_ENST00000489374.1_Silent_p.E72E|CAP2_ENST00000378990.2_Silent_p.E72E	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	72					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GGGACGTGGAGACCCATGTAA	0.493																																						ENST00000229922.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27						c.(214-216)gaG>gaA		CAP, adenylate cyclase-associated protein, 2 (yeast)							103.0	91.0	95.0					6																	17426915		2203	4300	6503	SO:0001819	synonymous_variant	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17426915G>A	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.216G>A	6.37:g.17426915G>A						CAP2_ENST00000493172.1_Silent_p.E72E|CAP2_ENST00000489374.1_Silent_p.E72E|CAP2_ENST00000378990.2_Silent_p.E72E|CAP2_ENST00000465994.1_Silent_p.E72E	p.E72E	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		3	748	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	72					B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Silent	SNP	ENST00000229922.2	37	c.216G>A	CCDS4539.1																																																																																				0.493	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			8	105	0	0	0	1	0	8	105				
SGCA	6442	broad.mit.edu	37	17	48245324	48245324	+	Missense_Mutation	SNP	G	G	C	rs145697858	byFrequency	TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr17:48245324G>C	ENST00000262018.3	+	4	365	c.329G>C	c.(328-330)cGg>cCg	p.R110P	SGCA_ENST00000543315.1_Missense_Mutation_p.R110P|SGCA_ENST00000451235.2_Missense_Mutation_p.R8P|SGCA_ENST00000513942.1_3'UTR|SGCA_ENST00000344627.6_Missense_Mutation_p.R110P|RP11-893F2.14_ENST00000572855.1_RNA	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	110					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						GCCTACAATCGGGACAGCTTT	0.587																																						ENST00000262018.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14	GRCh37	CM030278	SGCA	M	rs145697858	c.(328-330)cGg>cCg		sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)							134.0	126.0	129.0					17																	48245324		2203	4300	6503	SO:0001583	missense	6442				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr17:48245324G>C	L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.329G>C	17.37:g.48245324G>C	ENSP00000262018:p.Arg110Pro					SGCA_ENST00000451235.2_Missense_Mutation_p.R8P|SGCA_ENST00000344627.6_Missense_Mutation_p.R110P|SGCA_ENST00000543315.1_Missense_Mutation_p.R110P|SGCA_ENST00000513942.1_3'UTR	p.R110P	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN			4	365	+			110					A6NEB8|A8K3K7|Q13710|Q13712	Missense_Mutation	SNP	ENST00000262018.3	37	c.329G>C	CCDS32679.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360041	0.82353	.	.	ENSG00000108823	ENST00000344627;ENST00000262018;ENST00000543315;ENST00000451235;ENST00000511303	D;D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03;-5.03	4.77	4.77	0.60923	Dystroglycan-type cadherin-like (1);Cadherin-like (1);	0.058341	0.64402	D	0.000003	D	0.98729	0.9573	M	0.62723	1.935	0.45515	D	0.998479	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.99047	1.0826	10	0.56958	D	0.05	-26.3397	13.6545	0.62330	0.0:0.0:1.0:0.0	.	8;110;110	B7Z1L1;Q16586-2;Q16586	.;.;SGCA_HUMAN	P	110;110;110;8;17	ENSP00000345522:R110P;ENSP00000262018:R110P;ENSP00000444539:R110P;ENSP00000390371:R8P;ENSP00000426104:R17P	ENSP00000262018:R110P	R	+	2	0	SGCA	45600323	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.658000	0.74407	2.337000	0.79520	0.462000	0.41574	CGG		0.587	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023		35	122	0	0	0	1	0	35	122				
TRIM43	129868	broad.mit.edu	37	2	96260870	96260870	+	Missense_Mutation	SNP	G	G	A	rs201221399		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr2:96260870G>A	ENST00000272395.2	+	3	620	c.484G>A	c.(484-486)Gga>Aga	p.G162R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	162						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.G162R(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATATGAGGAGGGAAGAACAGC	0.398																																						ENST00000272395.2																			2	Substitution - Missense(2)	p.G162R(2)	lung(2)	breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						c.(484-486)Gga>Aga		tripartite motif containing 43							71.0	67.0	68.0					2																	96260870		2203	4300	6503	SO:0001583	missense	129868					intracellular	zinc ion binding	g.chr2:96260870G>A	BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.484G>A	2.37:g.96260870G>A	ENSP00000272395:p.Gly162Arg						p.G162R	NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN			3	620	+			162					Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	c.484G>A	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.704919	0.00719	.	.	ENSG00000144015	ENST00000272395	T	0.04603	3.59	0.911	-1.82	0.07857	.	.	.	.	.	T	0.01730	0.0055	N	0.04297	-0.235	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40421	-0.9564	9	0.08381	T	0.77	5.3819	2.9369	0.05817	0.51:0.0:0.285:0.205	.	162	Q96BQ3	TRI43_HUMAN	R	162	ENSP00000272395:G162R	ENSP00000272395:G162R	G	+	1	0	TRIM43	95624597	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.758000	0.01810	-2.941000	0.00297	-2.114000	0.00352	GGA		0.398	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800		4	37	0	0	0	1	0	4	37				
DSG4	147409	broad.mit.edu	37	18	28993243	28993243	+	Silent	SNP	C	C	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr18:28993243C>A	ENST00000308128.4	+	16	2943	c.2808C>A	c.(2806-2808)acC>acA	p.T936T	DSG4_ENST00000359747.4_Silent_p.T955T|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	936					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTGTAGTAACCGAAGCAGTAA	0.408																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(2863-2865)acC>acA		desmoglein 4							182.0	167.0	172.0					18																	28993243		2203	4300	6503	SO:0001819	synonymous_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28993243C>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2808C>A	18.37:g.28993243C>A						RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.T936T	p.T955T	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2894	+			936					A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	c.2865C>A	CCDS11897.1																																																																																				0.408	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		59	92	1	0	4.09106e-26	1	4.78009e-26	59	92				
MXRA5	25878	broad.mit.edu	37	X	3235367	3235367	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chrX:3235367G>A	ENST00000217939.6	-	6	6509	c.6355C>T	c.(6355-6357)Cgc>Tgc	p.R2119C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2119	Ig-like C2-type 5.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CACTCATAGCGCCCGCTGTCC	0.662																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6355-6357)Cgc>Tgc		matrix-remodelling associated 5							36.0	30.0	32.0					X																	3235367		2202	4299	6501	SO:0001583	missense	25878					extracellular region		g.chrX:3235367G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6355C>T	X.37:g.3235367G>A	ENSP00000217939:p.Arg2119Cys						p.R2119C	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			6	6509	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2119			Ig-like C2-type 5.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6355C>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	16.84	3.234115	0.58886	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.68181	-0.31	3.63	2.61	0.31194	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.773939	0.10431	U	0.675565	T	0.74245	0.3691	M	0.63843	1.955	0.36126	D	0.845839	D	0.89917	1.0	D	0.66847	0.947	T	0.73338	-0.4014	10	0.37606	T	0.19	.	5.522	0.16938	0.0:0.1326:0.2975:0.5699	.	2119	Q9NR99	MXRA5_HUMAN	C	2119	ENSP00000217939:R2119C	ENSP00000217939:R2119C	R	-	1	0	MXRA5	3245367	0.314000	0.24563	0.990000	0.47175	0.960000	0.62799	2.831000	0.48144	1.440000	0.47531	0.597000	0.82753	CGC		0.662	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		14	6	0	0	0	1	0	14	6				
BCKDHA	593	broad.mit.edu	37	19	41931832	41931832	+	IGR	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr19:41931832C>T	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000601379.1_5'Flank|CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000321702.2_Silent_p.R284R	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CTCCTGGCTTCCGGAGAGGCA	0.657																																						ENST00000321702.2																			0				cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						c.(850-852)cgG>cgA		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8							28.0	30.0	29.0					19																	41931832		2203	4300	6503	SO:0001628	intergenic_variant	374907				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	g.chr19:41931832C>T	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41931832C>T						CTC-435M10.6_ENST00000598887.1_RNA	p.R284R	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN			3	1305	-			284					B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	ENST00000269980.2	37	c.852G>A	CCDS12581.1																																																																																				0.657	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		7	52	0	0	0	1	0	7	52				
HMCN1	83872	broad.mit.edu	37	1	186114607	186114607	+	Missense_Mutation	SNP	G	G	A	rs111360184		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:186114607G>A	ENST00000271588.4	+	92	14568	c.14339G>A	c.(14338-14340)cGg>cAg	p.R4780Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4780Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4780	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGATGCGGCGGTACCGCACA	0.557																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(14338-14340)cGg>cAg		hemicentin 1							97.0	87.0	91.0					1																	186114607		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186114607G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14339G>A	1.37:g.186114607G>A	ENSP00000271588:p.Arg4780Gln					HMCN1_ENST00000367492.2_Missense_Mutation_p.R4780Q	p.R4780Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			92	14568	+			4780			TSP type-1 5.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14339G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	34	5.404657	0.96051	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.80738	-1.41;-1.41	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.91696	0.7375	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92916	0.6351	10	0.87932	D	0	.	19.2606	0.93967	0.0:0.0:1.0:0.0	.	4780	Q96RW7	HMCN1_HUMAN	Q	4780	ENSP00000271588:R4780Q;ENSP00000356462:R4780Q	ENSP00000271588:R4780Q	R	+	2	0	HMCN1	184381230	1.000000	0.71417	0.994000	0.49952	0.752000	0.42762	9.338000	0.96553	2.551000	0.86045	0.655000	0.94253	CGG		0.557	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		5	95	0	0	0	1	0	5	95				
TNXB	7148	broad.mit.edu	37	6	32026159	32026159	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr6:32026159C>T	ENST00000375244.3	-	22	7702	c.7501G>A	c.(7501-7503)Gag>Aag	p.E2501K	TNXB_ENST00000375247.2_Missense_Mutation_p.E2501K			P22105	TENX_HUMAN	tenascin XB	2561	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCACATCCTCTTGTGGGGCT	0.562																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(7501-7503)Gag>Aag		tenascin XB							16.0	19.0	18.0					6																	32026159		1212	2521	3733	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32026159C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7501G>A	6.37:g.32026159C>T	ENSP00000364393:p.Glu2501Lys					TNXB_ENST00000375247.2_Missense_Mutation_p.E2501K	p.E2501K			P22105	TENX_HUMAN			22	7702	-			2561			Fibronectin type-III 17.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.7501G>A		.	.	.	.	.	.	.	.	.	.	C	7.214	0.595963	0.13875	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56941	0.58;0.43	4.32	-0.722	0.11184	.	1.648490	0.04513	N	0.383216	T	0.12305	0.0299	L	0.29908	0.895	0.09310	N	1	B	0.28055	0.199	B	0.23574	0.047	T	0.05289	-1.0894	10	0.07175	T	0.84	.	4.4221	0.11486	0.0:0.4401:0.2221:0.3378	.	2501	P22105-3	.	K	2501	ENSP00000364393:E2501K;ENSP00000364396:E2501K	ENSP00000364393:E2501K	E	-	1	0	TNXB	32134137	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.923000	0.04000	-0.060000	0.13132	0.586000	0.80456	GAG		0.562	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		7	25	0	0	0	1	0	7	25				
PCDHB7	56129	broad.mit.edu	37	5	140554539	140554539	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:140554539C>T	ENST00000231137.3	+	1	2297	c.2123C>T	c.(2122-2124)gCg>gTg	p.A708V	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	708					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTCGTGGCGGTGCGGCTG	0.697																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2122-2124)gCg>gTg									75.0	126.0	109.0					5																	140554539		2192	4275	6467	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554539C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2123C>T	5.37:g.140554539C>T	ENSP00000231137:p.Ala708Val						p.A708V	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2297	+			708					A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.2123C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460476	0.63401	.	.	ENSG00000113212	ENST00000231137	T	0.15603	2.41	3.98	1.57	0.23409	.	.	.	.	.	T	0.26122	0.0637	M	0.90198	3.095	0.09310	N	1	P	0.48162	0.906	B	0.43508	0.422	T	0.19063	-1.0317	9	0.45353	T	0.12	.	5.0058	0.14288	0.0:0.4176:0.3678:0.2146	.	708	Q9Y5E2	PCDB7_HUMAN	V	708	ENSP00000231137:A708V	ENSP00000231137:A708V	A	+	2	0	PCDHB7	140534723	0.000000	0.05858	0.378000	0.26068	0.979000	0.70002	-0.353000	0.07691	0.738000	0.32606	0.449000	0.29647	GCG		0.697	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		44	733	0	0	0	1	0	44	733				
GLIPR2	152007	broad.mit.edu	37	9	36148600	36148600	+	Missense_Mutation	SNP	G	G	A	rs200040826		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr9:36148600G>A	ENST00000377960.4	+	3	213	c.179G>A	c.(178-180)cGt>cAt	p.R60H	GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000377959.1_Missense_Mutation_p.R60H|GLIPR2_ENST00000474050.1_3'UTR	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	60	SCP.				positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						GAGTCCAGCCGTGGCCAGTGT	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		18311	0.0		0.001	False		,,,				2504	0.0					ENST00000377960.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						c.(178-180)cGt>cAt		GLI pathogenesis-related 2							118.0	93.0	101.0					9																	36148600		2203	4300	6503	SO:0001583	missense	152007					extracellular region|Golgi membrane		g.chr9:36148600G>A	AY039756	CCDS6598.1, CCDS69595.1, CCDS75832.1, CCDS75833.1	9p13.3	2008-08-15	2008-08-15	2008-08-15	ENSG00000122694	ENSG00000122694			18007	protein-coding gene	gene with protein product		607141	"""chromosome 9 open reading frame 19"""	C9orf19		12137952, 11865038	Standard	NM_022343		Approved	GAPR-1	uc003zyz.3	Q9H4G4	OTTHUMG00000019900	ENST00000377960.4:c.179G>A	9.37:g.36148600G>A	ENSP00000367196:p.Arg60His					GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000377959.1_Missense_Mutation_p.R60H	p.R60H	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN			3	213	+			60					Q5VZR1|Q8N2S6|Q8WWC9|Q8WX36	Missense_Mutation	SNP	ENST00000377960.4	37	c.179G>A	CCDS6598.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	22.6	4.305346	0.81247	.	.	ENSG00000122694	ENST00000377959;ENST00000377960	T;T	0.08008	3.14;3.14	5.61	5.61	0.85477	CAP domain (3);	0.218384	0.45606	D	0.000341	T	0.23688	0.0573	L	0.57536	1.79	0.80722	D	1	B;D;D;D	0.76494	0.117;0.999;0.999;0.997	B;D;D;D	0.76071	0.012;0.987;0.981;0.934	T	0.00563	-1.1669	10	0.22109	T	0.4	-5.4242	15.4922	0.75615	0.0:0.0:1.0:0.0	.	60;257;60;60	B4DQC5;D3DRP5;Q9H4G4;Q5VZR0	.;.;GAPR1_HUMAN;.	H	60	ENSP00000367195:R60H;ENSP00000367196:R60H	ENSP00000367195:R60H	R	+	2	0	GLIPR2	36138600	1.000000	0.71417	0.936000	0.37596	0.605000	0.37080	6.685000	0.74543	2.793000	0.96121	0.655000	0.94253	CGT		0.597	GLIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052414.1	NM_022343		6	8	0	0	0	1	0	6	8				
IDH1	3417	broad.mit.edu	37	2	209104649	209104649	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr2:209104649C>A	ENST00000415913.1	-	8	1310	c.929G>T	c.(928-930)gGg>gTg	p.G310V	IDH1_ENST00000446179.1_Missense_Mutation_p.G310V|IDH1_ENST00000345146.2_Missense_Mutation_p.G310V	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	310					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		GGTTACAGTCCCGTGGGCAGC	0.517			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		0				NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(928-930)gGg>gTg		isocitrate dehydrogenase 1 (NADP+), soluble							156.0	125.0	135.0					2																	209104649		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209104649C>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.929G>T	2.37:g.209104649C>A	ENSP00000390265:p.Gly310Val					IDH1_ENST00000446179.1_Missense_Mutation_p.G310V|IDH1_ENST00000345146.2_Missense_Mutation_p.G310V	p.G310V			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	8	1310	-			310					Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.929G>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	34	5.348408	0.95807	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913	D;D;D	0.96587	-4.06;-4.06;-4.06	6.08	6.08	0.98989	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.99143	0.9704	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.98655	1.0681	10	0.87932	D	0	-17.1732	20.6721	0.99693	0.0:1.0:0.0:0.0	.	310	O75874	IDHC_HUMAN	V	310	ENSP00000260985:G310V;ENSP00000410513:G310V;ENSP00000390265:G310V	ENSP00000260985:G310V	G	-	2	0	IDH1	208812894	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GGG		0.517	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			42	124	1	0	1.22674e-20	1	1.4038e-20	42	124				
ARAP3	64411	broad.mit.edu	37	5	141037995	141037995	+	Missense_Mutation	SNP	G	G	A	rs554433565		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:141037995G>A	ENST00000239440.4	-	25	3528	c.3463C>T	c.(3463-3465)Cgg>Tgg	p.R1155W	ARAP3_ENST00000513878.1_Missense_Mutation_p.R817W|ARAP3_ENST00000508305.1_Missense_Mutation_p.R986W|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1155	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCTGTCCCCCGCATCTCCAGT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		19478	0.001		0.0	False		,,,				2504	0.0					ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(3463-3465)Cgg>Tgg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							158.0	119.0	132.0					5																	141037995		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141037995G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3463C>T	5.37:g.141037995G>A	ENSP00000239440:p.Arg1155Trp					ARAP3_ENST00000513878.1_Missense_Mutation_p.R817W|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.R986W	p.R1155W	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			25	3528	-			1155			Ras-associating.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.3463C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577753	0.86645	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.17370	2.28;2.28;2.28	5.97	5.03	0.67393	Ras-association (2);	0.000000	0.85682	D	0.000000	T	0.42177	0.1191	M	0.71581	2.175	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.997;1.0	T	0.22277	-1.0221	10	0.87932	D	0	.	15.9817	0.80114	0.0:0.0:0.8569:0.1431	.	817;986;1155	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	W	986;1155;817	ENSP00000421826:R986W;ENSP00000239440:R1155W;ENSP00000421468:R817W	ENSP00000239440:R1155W	R	-	1	2	ARAP3	141018179	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.446000	0.35090	2.837000	0.97791	0.655000	0.94253	CGG		0.567	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		7	65	0	0	0	1	0	7	65				
USP31	57478	broad.mit.edu	37	16	23080082	23080082	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr16:23080082T>C	ENST00000219689.7	-	16	3343	c.3344A>G	c.(3343-3345)cAg>cGg	p.Q1115R	USP31_ENST00000567975.1_Missense_Mutation_p.Q408R	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GGCTGACTTCTGCTTCTGTGG	0.602																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(3343-3345)cAg>cGg		ubiquitin specific peptidase 31							99.0	106.0	104.0					16																	23080082		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080082T>C	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3344A>G	16.37:g.23080082T>C	ENSP00000219689:p.Gln1115Arg					USP31_ENST00000567975.1_Missense_Mutation_p.Q408R	p.Q1115R	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	3343	-			1115			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.3344A>G	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	T	9.054	0.992895	0.18966	.	.	ENSG00000103404	ENST00000219689	T	0.08193	3.12	6.06	3.74	0.42951	.	2.383140	0.01626	N	0.023311	T	0.09686	0.0238	L	0.27053	0.805	0.34951	D	0.751218	B;B	0.25441	0.002;0.126	B;B	0.23275	0.005;0.045	T	0.21042	-1.0257	10	0.32370	T	0.25	-4.6079	12.4319	0.55578	0.0:0.0:0.2918:0.7082	.	1115;408	Q70CQ4;B3KS48	UBP31_HUMAN;.	R	1115	ENSP00000219689:Q1115R	ENSP00000219689:Q1115R	Q	-	2	0	USP31	22987583	0.996000	0.38824	0.999000	0.59377	0.864000	0.49448	1.871000	0.39539	0.480000	0.27534	0.528000	0.53228	CAG		0.602	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		74	73	0	0	0	1	0	74	73				
ABCB5	340273	broad.mit.edu	37	7	20795117	20795117	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr7:20795117C>G	ENST00000404938.2	+	28	4296	c.3644C>G	c.(3643-3645)tCt>tGt	p.S1215C	ABCB5_ENST00000258738.6_Missense_Mutation_p.S770C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1215	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CACAGGCTCTCTGCAATTCAG	0.453																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(3643-3645)tCt>tGt		ATP-binding cassette, sub-family B (MDR/TAP), member 5							110.0	99.0	103.0					7																	20795117		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20795117C>G	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3644C>G	7.37:g.20795117C>G	ENSP00000384881:p.Ser1215Cys					ABCB5_ENST00000258738.6_Missense_Mutation_p.S770C	p.S1215C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			28	4296	+			770					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.3644C>G	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017991	0.54576	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	T;T	0.68624	-0.34;-0.34	5.01	5.01	0.66863	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.56097	D	0.000025	D	0.86091	0.5850	M	0.92412	3.305	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.987	D	0.89320	0.3639	10	0.87932	D	0	.	17.9745	0.89123	0.0:1.0:0.0:0.0	.	1215;770	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	C	1215;770	ENSP00000384881:S1215C;ENSP00000258738:S770C	ENSP00000258738:S770C	S	+	2	0	ABCB5	20761642	1.000000	0.71417	0.990000	0.47175	0.023000	0.10783	7.168000	0.77570	2.692000	0.91855	0.650000	0.86243	TCT		0.453	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		7	43	0	0	0	1	0	7	43				
PLEKHN1	84069	broad.mit.edu	37	1	907763	907764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:907763_907764insC	ENST00000379409.2	+	9	1147_1148	c.1117_1118insC	c.(1117-1119)gccfs	p.A373fs	PLEKHN1_ENST00000379407.3_Frame_Shift_Ins_p.A333fs|PLEKHN1_ENST00000379410.3_Frame_Shift_Ins_p.A321fs			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	373										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CAGGGAGGGGGCCCCGCCGCTG	0.678																																						ENST00000379409.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(1117-1119)cccfs		pleckstrin homology domain containing, family N member 1																																				SO:0001589	frameshift_variant	84069							g.chr1:907763_907764insC	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1121dupC	1.37:g.907767_907767dupC	ENSP00000368719:p.Ala373fs					PLEKHN1_ENST00000379410.3_Frame_Shift_Ins_p.P321fs|PLEKHN1_ENST00000379407.2_Frame_Shift_Ins_p.P333fs	p.P373fs			Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	9	1147_1148	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	373					Q494U2|Q5SV98|Q9H0M7	Frame_Shift_Ins	INS	ENST00000379409.2	37	c.1117_1118insC																																																																																					0.678	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		7	15						7	15	---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66075955	66075956	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:66075955_66075956insA	ENST00000349533.6	+	14	2156_2157	c.1971_1972insA	c.(1972-1974)aaafs	p.K658fs	LEPR_ENST00000371059.3_Frame_Shift_Ins_p.K658fs|LEPR_ENST00000344610.8_Frame_Shift_Ins_p.K658fs|LEPR_ENST00000371058.1_Frame_Shift_Ins_p.K658fs|LEPR_ENST00000371060.3_Frame_Shift_Ins_p.K658fs|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGAAAAAGGAGAAAAATGTCAC	0.277																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(1969-1974)gaaaaafs		leptin receptor																																				SO:0001589	frameshift_variant	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66075955_66075956insA	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1976dupA	1.37:g.66075960_66075960dupA	ENSP00000330393:p.Lys658fs					LEPR_ENST00000371059.3_Frame_Shift_Ins_p.EK657fs|LEPR_ENST00000371058.1_Frame_Shift_Ins_p.EK657fs|LEPR_ENST00000371060.3_Frame_Shift_Ins_p.EK657fs|LEPR_ENST00000344610.8_Frame_Shift_Ins_p.EK657fs|LEPR_ENST00000406510.3_Intron	p.EK657fs	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	14	2156_2157	+			657			Fibronectin type-III 3.		Q6FHL5	Frame_Shift_Ins	INS	ENST00000349533.6	37	c.1971_1972insA	CCDS631.1																																																																																				0.277	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		10	34						10	34	---	---	---	---
CTBS	1486	broad.mit.edu	37	1	85040025	85040033	+	In_Frame_Del	DEL	AGCAGCGCT	AGCAGCGCT	-	rs201734152	byFrequency	TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:85040025_85040033delAGCAGCGCT	ENST00000370630.5	-	1	114_122	c.66_74delAGCGCTGCT	c.(64-75)ctagcgctgctg>ctg	p.22_25LALL>L	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	22					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		cagcagcgccagcagcgcTAGACCCGGGA	0.718																																						ENST00000370630.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(64-75)ctg>ct		chitobiase, di-N-acetyl-				474,2688		69,336,1176							0.0		dbSNP_106	4	941,5573		128,685,2444	no	coding	CTBS	NM_004388.2		197,1021,3620	A1A1,A1R,RR		14.4458,14.9905,14.6238				1415,8261				SO:0001651	inframe_deletion	1486					lysosome	cation binding	g.chr1:85040025_85040033delAGCAGCGCT	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.66_74delAGCGCTGCT	1.37:g.85040025_85040033delAGCAGCGCT	ENSP00000359664:p.Leu31_Leu33del					CTBS_ENST00000477677.1_5'UTR	p.LALL22del	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN		all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)	1	114_122	-			22					Q5VX50	In_Frame_Del	DEL	ENST00000370630.5	37	c.66_74delAGCGCTGCT	CCDS698.1																																																																																				0.718	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		5	6						5	6	---	---	---	---
DENND4B	9909	broad.mit.edu	37	1	153907304	153907306	+	In_Frame_Del	DEL	TGT	TGT	-	rs2275483|rs35902206|rs557071025|rs375088543	byFrequency	TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:153907304_153907306delTGT	ENST00000361217.4	-	18	3121_3123	c.2703_2705delACA	c.(2701-2706)caacag>cag	p.901_902QQ>Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	901	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q789Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ctgctgctgctgttgctgctgct	0.645																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q789Q(2)	prostate(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2701-2706)cag>ca		DENN/MADD domain containing 4B																																				SO:0001651	inframe_deletion	9909							g.chr1:153907304_153907306delTGT	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2703_2705delACA	1.37:g.153907304_153907306delTGT	ENSP00000354597:p.Gln910del						p.QQ909del	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3121_3123	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		909			Gln-rich.		Q5T4K0	In_Frame_Del	DEL	ENST00000361217.4	37	c.2703_2705delACA	CCDS44228.1																																																																																				0.645	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		53	44						53	44	---	---	---	---
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557|rs531679771|rs370593160	byFrequency	TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)ggcagc>ggcGGCagc	p.21_22insG		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738														1663	0.332069	0.0227	0.3487	5008	,	,		8489	0.5208		0.3668	False		,,,				2504	0.5082					ENST00000408903.3																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(61-66)gggcgg>ggGGCgcgg		mutated in colorectal cancers																																				SO:0001652	inframe_insertion	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824048_112824049insGCC		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.61_63dupGGC	5.37:g.112824055_112824057dupGCC	ENSP00000386227:p.Gly22_Gly23dup						p.21_22GR>GAR	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	1	478_479	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	549					D3DT05|Q6ZR04	In_Frame_Ins	INS	ENST00000408903.3	37	c.63_64insGGC	CCDS43351.1																																																																																				0.738	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		8	17						8	17	---	---	---	---
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs548039666|rs70994948|rs71585660|rs568597025|rs535774316	byFrequency	TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683														1220	0.24361	0.2678	0.3372	5008	,	,		15351	0.1548		0.2674	False		,,,				2504	0.2117					ENST00000511650.1																			0																																																			285647							g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA																													5.37:g.177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA														0	145	+									RNA	DEL	ENST00000511650.1	37																																																																																						0.683	RP11-1252I4.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000373553.1			5	2						5	2	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6775132	6775133	+	RNA	INS	-	-	T	rs72390141|rs71539975		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr7:6775132_6775133insT	ENST00000486256.1	+	0	833					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		GGTCATGTAAGTTTTTTTTTTT	0.401																																						ENST00000486256.1																			0																																																			441194							g.chr7:6775132_6775133insT	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6775143_6775143dupT								NR_002217.1						0	833	+								B4DK88|Q764P1	RNA	INS	ENST00000486256.1	37																																																																																						0.401	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		3	6						3	6	---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2039777	2039779	+	In_Frame_Del	DEL	CAG	CAG	-	rs376509101|rs62639301	byFrequency	TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr9:2039777_2039779delCAG	ENST00000382203.1	+	4	876_878	c.667_669delCAG	c.(667-669)cagdel	p.Q238del	RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	238	Poly-Gln.			Missing (in Ref. 1; CAA51407). {ECO:0000305}.	aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gcagcagcaacagcagcagcagc	0.635																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(667-669)del		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2																																				SO:0001651	inframe_deletion	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039777_2039779delCAG	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.667_669delCAG	9.37:g.2039786_2039788delCAG	ENSP00000371638:p.Gln238del					SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR	p.Q238del			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	876_878	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	238	Missing (in Ref. 1; CAA51407).		Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	In_Frame_Del	DEL	ENST00000382203.1	37	c.667_669delCAG	CCDS34977.1																																																																																				0.635	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		9	34						9	34	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21974765	21974784	+	Frame_Shift_Del	DEL	GCCGCGGCCGTGGCCAGCCA	GCCGCGGCCGTGGCCAGCCA	-	rs587782206|rs560518923|rs138677674		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr9:21974765_21974784delGCCGCGGCCGTGGCCAGCCA	ENST00000304494.5	-	1	313_332	c.43_62delTGGCTGGCCACGGCCGCGGC	c.(43-63)tggctggccacggccgcggccfs	p.WLATAAA15fs	CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.WLATAAA15fs|CDKN2A_ENST00000498628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.WLATAAA15fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.WLATAAA15fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	15					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.W15*(7)|p.L16fs*9(4)|p.A20P(3)|p.A19_A20insTA(3)|p.A20A(2)|p.A20T(2)|p.T18P(2)|p.A21D(2)|p.L16P(2)|p.L16_A17insAT(1)|p.W15L(1)|p.R22fs*14(1)|p.S12fs*20(1)|p.A20E(1)|p.S7_A19del(1)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.T18M(1)|p.A20fs*26(1)|p.A20_A21del(1)|p.A17fs*5(1)|p.A20S(1)|p.A17T(1)|p.L16R(1)|p.A20fs*6(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGACCCCGGGCCGCGGCCGTGGCCAGCCAGTCAGCCGAA	0.75		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1382	Whole gene deletion(1316)|Unknown(23)|Substitution - Missense(17)|Deletion - Frameshift(9)|Substitution - Nonsense(7)|Insertion - In frame(5)|Deletion - In frame(2)|Substitution - coding silent(2)|Insertion - Frameshift(1)	p.0?(1315)|p.?(23)|p.W15*(7)|p.L16fs*9(4)|p.A20P(3)|p.A19_A20insTA(3)|p.A20A(2)|p.A20T(2)|p.T18P(2)|p.A21D(2)|p.L16P(2)|p.L16_A17insAT(1)|p.W15L(1)|p.R22fs*14(1)|p.S12fs*20(1)|p.A20E(1)|p.S7_A19del(1)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.T18M(1)|p.A20fs*26(1)|p.A20_A21del(1)|p.A17fs*5(1)|p.A20S(1)|p.A17T(1)|p.L16R(1)|p.A20fs*6(1)	haematopoietic_and_lymphoid_tissue(280)|skin(172)|central_nervous_system(166)|lung(149)|urinary_tract(90)|bone(73)|soft_tissue(58)|upper_aerodigestive_tract(54)|oesophagus(53)|pleura(52)|pancreas(37)|ovary(35)|kidney(31)|breast(30)|biliary_tract(15)|thyroid(14)|NS(12)|stomach(12)|liver(11)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|prostate(4)|thymus(4)|vulva(2)|endometrium(2)|adrenal_gland(1)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CD951646|CI983050|CM023346|CM960269|CM980321|CM994496	CDKN2A	D|I|M	rs138677674	c.(43-63)cfs		cyclin-dependent kinase inhibitor 2A																																				SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974765_21974784delGCCGCGGCCGTGGCCAGCCA	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.43_62delTGGCTGGCCACGGCCGCGGC	9.37:g.21974765_21974784delGCCGCGGCCGTGGCCAGCCA	ENSP00000307101:p.Trp15fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.WLATAAA15fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.WLATAAA15fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.WLATAAA15fs|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron	p.WLATAAA15fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	313_332	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	15					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.43_62delTGGCTGGCCACGGCCGCGGC	CCDS6510.1																																																																																				0.750	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		16	38						16	38	---	---	---	---
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-	rs200487787	byFrequency	TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcgfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													g|G|-|deletion	1256	0.250799	0.2352	0.2061	5008	,	,		15575	0.3968		0.174	False		,,,				2504	0.2321					ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(1597-1599)gcfs		contactin associated protein-like 3B																																				SO:0001589	frameshift_variant	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43844265delG	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1599delG	9.37:g.43844265delG	ENSP00000366787:p.Ala533fs						p.A533fs	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			10	1992	+			533			Laminin G-like 2.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Frame_Shift_Del	DEL	ENST00000377564.3	37	c.1599delG	CCDS55312.1																																																																																				0.542	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			8	23						8	23	---	---	---	---
PRKACG	5568	broad.mit.edu	37	9	71628412	71628432	+	In_Frame_Del	DEL	CAAGGTCCAAGTGCGGCCCTT	CAAGGTCCAAGTGCGGCCCTT	-			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr9:71628412_71628432delCAAGGTCCAAGTGCGGCCCTT	ENST00000377276.2	-	1	607_627	c.577_597delAAGGGCCGCACTTGGACCTTG	c.(577-597)aagggccgcacttggaccttgdel	p.KGRTWTL193del		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	193	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)	p.R195C(1)|p.R195H(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GGGTCCCGCACAAGGTCCAAGTGCGGCCCTTCACGCGCTTG	0.62																																					Esophageal Squamous(110;2236 2623 32146)	ENST00000377276.2																			2	Substitution - Missense(2)	p.R195C(1)|p.R195H(1)	endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(577-597)del		protein kinase, cAMP-dependent, catalytic, gamma																																				SO:0001651	inframe_deletion	5568				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	g.chr9:71628412_71628432delCAAGGTCCAAGTGCGGCCCTT	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.577_597delAAGGGCCGCACTTGGACCTTG	9.37:g.71628412_71628432delCAAGGTCCAAGTGCGGCCCTT	ENSP00000366488:p.Lys193_Leu199del						p.KGRTWTL193del	NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN			1	607_627	-			193			Protein kinase.		O60850|Q5VZ02|Q86YI1	In_Frame_Del	DEL	ENST00000377276.2	37	c.577_597delAAGGGCCGCACTTGGACCTTG	CCDS6625.1																																																																																				0.620	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			8	27						8	27	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr10:30316501_30316503delCTG	ENST00000375377.1	-	3	2675_2677	c.2574_2576delCAG	c.(2572-2577)agcagt>agt	p.858_859SS>S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	858	Ser-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2572-2577)agt>ag		KIAA1462				16,121,147,3686		2,1,1,10,9,1,101,3,139,1718						-7.0	0.0			46	4,50,242,7744		0,0,1,3,0,0,50,8,225,3733	no	codingComplex	KIAA1462	NM_020848.2		2,1,2,13,9,1,151,11,364,5451	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		3.6816,7.1537,4.8293				20,171,389,11430				SO:0001651	inframe_deletion	57608							g.chr10:30316501_30316503delCTG	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2574_2576delCAG	10.37:g.30316510_30316512delCTG	ENSP00000364526:p.Ser859del						p.SS858del	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	2675_2677	-			858			Ser-rich.		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	In_Frame_Del	DEL	ENST00000375377.1	37	c.2574_2576delCAG	CCDS41500.1																																																																																				0.571	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		9	142						9	142	---	---	---	---
THUMPD1	55623	broad.mit.edu	37	16	20752832	20752832	+	Splice_Site	DEL	T	T	-			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr16:20752832delT	ENST00000381337.2	-	1	574	c.230delA	c.(229-231)aag>ag	p.K77fs	THUMPD1_ENST00000431224.2_Splice_Site_p.K163fs|AC004381.7_ENST00000565498.1_RNA|THUMPD1_ENST00000396083.2_Splice_Site_p.K77fs	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	77							poly(A) RNA binding (GO:0044822)			NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						GACCGGTACCTTTTCTGGCCC	0.657																																						ENST00000381337.2																			0				NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.e1+1		THUMP domain containing 1							9.0	9.0	9.0					16																	20752832		2189	4281	6470	SO:0001630	splice_region_variant	55623							g.chr16:20752832delT	BC000448	CCDS10588.1	16p13.11	2010-06-17			ENSG00000066654	ENSG00000066654			23807	protein-coding gene	gene with protein product							Standard	XM_005255422		Approved	FLJ20274	uc002dho.3	Q9NXG2	OTTHUMG00000131558	ENST00000381337.2:c.231+1A>-	16.37:g.20752832delT						THUMPD1_ENST00000431224.2_Splice_Site_p.K163_splice|THUMPD1_ENST00000396083.2_Splice_Site_p.K77_splice	p.K77_splice	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN			1	574	-			77					Q9BWC3	Splice_Site	DEL	ENST00000381337.2	37	c.231_splice	CCDS10588.1																																																																																				0.657	THUMPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254420.1	NM_017736	Frame_Shift_Del	2	4						2	4	---	---	---	---
SMG8	55181	broad.mit.edu	37	17	57290780	57290788	+	In_Frame_Del	DEL	AAAGTAATG	AAAGTAATG	-			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr17:57290780_57290788delAAAGTAATG	ENST00000543872.2	+	4	2860_2868	c.2596_2604delAAAGTAATG	c.(2596-2604)aaagtaatgdel	p.KVM869del	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_In_Frame_Del_p.KVM869del			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	869					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TGGGCCTGACAAAGTAATGAAAGTAATGG	0.455																																						ENST00000543872.2																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(2596-2604)del		SMG8 nonsense mediated mRNA decay factor																																				SO:0001651	inframe_deletion	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57290780_57290788delAAAGTAATG	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2596_2604delAAAGTAATG	17.37:g.57290789_57290797delAAAGTAATG	ENSP00000438748:p.Lys869_Met871del					CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_In_Frame_Del_p.KVM869del	p.KVM869del			Q8ND04	SMG8_HUMAN			4	2860_2868	+			869					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	In_Frame_Del	DEL	ENST00000543872.2	37	c.2596_2604delAAAGTAATG	CCDS11615.1																																																																																				0.455	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		35	107						35	107	---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34297916	34297930	+	In_Frame_Del	DEL	GGAGAAGGGGGATGG	GGAGAAGGGGGATGG	-	rs560667713|rs374688382		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr18:34297916_34297930delGGAGAAGGGGGATGG	ENST00000359247.4	+	15	2079_2093	c.2079_2093delGGAGAAGGGGGATGG	c.(2077-2094)gaggagaagggggatggg>gag	p.EKGDG694del	FHOD3_ENST00000592128.1_5'Flank|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000257209.4_In_Frame_Del_p.EKGDG711del|FHOD3_ENST00000445677.1_In_Frame_Del_p.EKGDG673del|FHOD3_ENST00000590592.1_In_Frame_Del_p.EKGDG886del	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	694					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CGGATGATGAGGAGAAGGGGGATGGGGAGGCTGGG	0.567																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(2128-2145)gag>ga		formin homology 2 domain containing 3																																				SO:0001651	inframe_deletion	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34297916_34297930delGGAGAAGGGGGATGG	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2079_2093delGGAGAAGGGGGATGG	18.37:g.34297916_34297930delGGAGAAGGGGGATGG	ENSP00000352186:p.Glu694_Gly698del					FHOD3_ENST00000359247.4_In_Frame_Del_p.EEKGDG693del|FHOD3_ENST00000590592.1_In_Frame_Del_p.EEKGDG885del|FHOD3_ENST00000445677.1_In_Frame_Del_p.EEKGDG672del|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000587493.1_3'UTR	p.EEKGDG710del	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			16	2252_2266	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	693					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	In_Frame_Del	DEL	ENST00000359247.4	37	c.2130_2144delGGAGAAGGGGGATGG																																																																																					0.567	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		29	45						29	45	---	---	---	---
AR	367	broad.mit.edu	37	X	66766357	66766374	+	In_Frame_Del	DEL	GGCGGCGGCGGCGGCGGC	GGCGGCGGCGGCGGCGGC	-			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chrX:66766357_66766374delGGCGGCGGCGGCGGCGGC	ENST00000374690.3	+	1	1893_1910	c.1369_1386delGGCGGCGGCGGCGGCGGC	c.(1369-1386)ggcggcggcggcggcggcdel	p.GGGGGG463del	AR_ENST00000396044.3_In_Frame_Del_p.GGGGGG463del|AR_ENST00000504326.1_In_Frame_Del_p.GGGGGG463del|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	461	Modulating.|Poly-Gly.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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 transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	tgggggtggtggcggcggcggcggcggcggcggcggcg	0.739									Androgen Insensitivity Syndrome																													ENST00000374690.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67						c.(1369-1386)del		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)			3,75		1,0,1,32,11							0.0			2	30,327		10,1,9,124,78	no	coding	AR	NM_000044.3		11,1,10,156,89	A1A1,A1R,A1,RR,R		8.4034,3.8462,7.5862				33,402				SO:0001651	inframe_deletion	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66766357_66766374delGGCGGCGGCGGCGGCGGC	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1369_1386delGGCGGCGGCGGCGGCGGC	X.37:g.66766357_66766374delGGCGGCGGCGGCGGCGGC	ENSP00000363822:p.Gly463_Gly468del					AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_In_Frame_Del_p.GGGGGG463del|AR_ENST00000396044.3_In_Frame_Del_p.GGGGGG463del	p.GGGGGG463del	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	1893_1910	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	461			Modulating.|Poly-Gly.		A2RUN2|B1AKD7|Q9UD95	In_Frame_Del	DEL	ENST00000374690.3	37	c.1369_1386delGGCGGCGGCGGCGGCGGC	CCDS14387.1																																																																																				0.739	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		3	4						3	4	---	---	---	---
