#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
KIAA1211	57482	broad.mit.edu	37	4	57182643	57182643	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr4:57182643G>A	ENST00000504228.1	+	6	3080	c.2975G>A	c.(2974-2976)cGa>cAa	p.R992Q	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R992Q|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R985Q			Q6ZU35	K1211_HUMAN	KIAA1211	992	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTGTCTCGCCGAGCGGGGAGG	0.657																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(2974-2976)cGa>cAa		KIAA1211							35.0	44.0	41.0					4																	57182643		2014	4176	6190	SO:0001583	missense	57482							g.chr4:57182643G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2975G>A	4.37:g.57182643G>A	ENSP00000423366:p.Arg992Gln					KIAA1211_ENST00000541073.1_Missense_Mutation_p.R985Q|KIAA1211_ENST00000264229.6_Missense_Mutation_p.R992Q	p.R992Q			Q6ZU35	K1211_HUMAN			6	3080	+	Glioma(25;0.08)|all_neural(26;0.101)		992			Pro-rich.		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2975G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402557	0.25291	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.77877	-1.13;-1.13;-1.13	5.59	3.85	0.44370	.	.	.	.	.	T	0.77445	0.4131	L	0.46157	1.445	0.09310	N	1	D;D;D	0.67145	0.996;0.991;0.991	P;P;P	0.52881	0.712;0.492;0.492	T	0.66002	-0.6031	9	0.41790	T	0.15	-13.668	9.4338	0.38626	0.2209:0.0:0.7791:0.0	.	985;985;992	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	Q	992;992;985	ENSP00000264229:R992Q;ENSP00000423366:R992Q;ENSP00000444006:R985Q	ENSP00000264229:R992Q	R	+	2	0	KIAA1211	56877400	0.334000	0.24739	0.006000	0.13384	0.022000	0.10575	2.178000	0.42519	1.362000	0.46000	0.561000	0.74099	CGA		0.657	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		7	45	0	0	0	1	0	7	45				
NPAP1	23742	broad.mit.edu	37	15	24923162	24923162	+	Silent	SNP	C	C	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr15:24923162C>A	ENST00000329468.2	+	1	2622	c.2148C>A	c.(2146-2148)gtC>gtA	p.V716V		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	716					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CTGCCTCTGTCTCCAAGAAGT	0.527																																						ENST00000329468.2																			0											c.(2146-2148)gtC>gtA		nuclear pore associated protein 1							138.0	134.0	135.0					15																	24923162		2203	4300	6503	SO:0001819	synonymous_variant	23742							g.chr15:24923162C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2148C>A	15.37:g.24923162C>A							p.V716V	NM_018958.2	NP_061831.2					1	2622	+									Silent	SNP	ENST00000329468.2	37	c.2148C>A	CCDS10015.1																																																																																				0.527	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		33	185	1	0	1.61788e-16	1	1.88949e-16	33	185				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	67	1	0	0.00024832	1	0.000257995	4	67				
ADAMTS20	80070	broad.mit.edu	37	12	43748066	43748066	+	Silent	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:43748066G>A	ENST00000389420.3	-	39	5678	c.5679C>T	c.(5677-5679)taC>taT	p.Y1893Y		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1893	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTTTCCACAGTACCCTCCAC	0.413																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(5677-5679)taC>taT		ADAM metallopeptidase with thrombospondin type 1 motif, 20							70.0	63.0	65.0					12																	43748066		2201	4300	6501	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43748066G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.5679C>T	12.37:g.43748066G>A							p.Y1893Y	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	39	5678	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1893			GON.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.5679C>T	CCDS31778.2																																																																																				0.413	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		4	8	0	0	0	1	0	4	8				
ZNF287	57336	broad.mit.edu	37	17	16455357	16455357	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:16455357C>G	ENST00000395824.1	-	6	2716	c.2099G>C	c.(2098-2100)gGa>gCa	p.G700A	ZNF287_ENST00000395825.3_Missense_Mutation_p.G700A			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	693					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|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(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GGGTCTCTCTCCAGTATGAGT	0.368																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(2098-2100)gGa>gCa		zinc finger protein 287							116.0	117.0	117.0					17																	16455357		2203	4300	6503	SO:0001583	missense	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16455357C>G	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.2099G>C	17.37:g.16455357C>G	ENSP00000379168:p.Gly700Ala					ZNF287_ENST00000395825.3_Missense_Mutation_p.G700A	p.G700A			Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	2716	-			693					Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	c.2099G>C	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697008	0.68386	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.01505	4.82;4.82	4.89	4.89	0.63831	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000200	T	0.09024	0.0223	M	0.63843	1.955	0.48830	D	0.999715	D	0.89917	1.0	D	0.91635	0.999	T	0.00708	-1.1600	10	0.87932	D	0	.	15.9512	0.79840	0.0:1.0:0.0:0.0	.	693	Q9HBT7	ZN287_HUMAN	A	700	ENSP00000379169:G700A;ENSP00000379168:G700A	ENSP00000379168:G700A	G	-	2	0	ZNF287	16396082	0.975000	0.34042	1.000000	0.80357	0.998000	0.95712	2.610000	0.46325	2.701000	0.92244	0.555000	0.69702	GGA		0.368	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			12	80	0	0	0	1	0	12	80				
CDH8	1006	broad.mit.edu	37	16	61760936	61760936	+	Intron	SNP	T	T	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr16:61760936T>A	ENST00000577390.1	-	9	2491				CDH8_ENST00000584337.1_Nonstop_Mutation_p.*533L|CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TAATGCAGGTTAGTCAAATAT	0.353																																						ENST00000584337.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1597-1599)tAa>tTa		cadherin 8, type 2																																				SO:0001627	intron_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61760936T>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1536+61A>T	16.37:g.61760936T>A						CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577390.1_Intron|CDH8_ENST00000577730.1_Intron	p.*533L			P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	9	2119	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	0			Cadherin 5.		B3KWC1|Q14DC6|Q9ULB2	Nonstop_Mutation	SNP	ENST00000577390.1	37	c.1598A>T	CCDS10802.1																																																																																				0.353	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		21	53	0	0	0	1	0	21	53				
XAB2	56949	broad.mit.edu	37	19	7687231	7687231	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:7687231C>T	ENST00000358368.4	-	12	1640	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	XAB2_ENST00000534844.1_Missense_Mutation_p.E532K	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	535					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						AAGCTCTCCTCGAAGTACTTG	0.597								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1603-1605)Gag>Aag	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							170.0	147.0	155.0					19																	7687231		2203	4300	6503	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7687231C>T	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1603G>A	19.37:g.7687231C>T	ENSP00000351137:p.Glu535Lys					XAB2_ENST00000534844.1_Missense_Mutation_p.E532K	p.E535K	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			12	1640	-			535					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.1603G>A	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803298	0.90623	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.04654	3.58;3.58	4.66	4.66	0.58398	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.137789	0.47852	D	0.000207	T	0.28632	0.0709	H	0.95187	3.635	0.80722	D	1	D	0.65815	0.995	P	0.59288	0.855	T	0.49495	-0.8934	10	0.87932	D	0	-17.1536	16.3303	0.83006	0.0:1.0:0.0:0.0	.	535	Q9HCS7	SYF1_HUMAN	K	535;532	ENSP00000351137:E535K;ENSP00000438225:E532K	ENSP00000351137:E535K	E	-	1	0	XAB2	7593231	1.000000	0.71417	0.987000	0.45799	0.588000	0.36517	7.519000	0.81809	2.144000	0.66660	0.462000	0.41574	GAG		0.597	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		37	195	0	0	0	1	0	37	195				
PRDM2	7799	broad.mit.edu	37	1	14075943	14075943	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:14075943A>G	ENST00000235372.7	+	6	1328	c.472A>G	c.(472-474)Agc>Ggc	p.S158G	PRDM2_ENST00000413440.1_5'UTR|PRDM2_ENST00000343137.4_5'UTR|PRDM2_ENST00000311066.5_Missense_Mutation_p.S158G|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000505823.1_5'UTR|PRDM2_ENST00000503842.1_5'UTR|PRDM2_ENST00000376048.5_Missense_Mutation_p.S158G	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGAGCGAGCCAGCGCCCGGAG	0.716																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(472-474)Agc>Ggc		PR domain containing 2, with ZNF domain																																				SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14075943A>G	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.472A>G	1.37:g.14075943A>G	ENSP00000235372:p.Ser158Gly					PRDM2_ENST00000376048.5_Missense_Mutation_p.S158G|PRDM2_ENST00000505823.1_5'UTR|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000503842.1_5'UTR|PRDM2_ENST00000413440.1_5'UTR|PRDM2_ENST00000343137.4_5'UTR|PRDM2_ENST00000311066.5_Missense_Mutation_p.S158G	p.S158G	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	6	1328	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	158					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.472A>G	CCDS150.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.039445	0.75617	.	.	ENSG00000116731	ENST00000484063;ENST00000376048;ENST00000235372;ENST00000311066;ENST00000400800	T;T;T;T	0.75938	-0.98;-0.81;-0.81;-0.81	3.83	3.83	0.44106	.	0.247422	0.45867	D	0.000333	T	0.68860	0.3047	L	0.50333	1.59	0.48185	D	0.999609	B;B;B	0.34372	0.323;0.451;0.081	B;B;B	0.37346	0.125;0.247;0.056	T	0.70288	-0.4913	10	0.48119	T	0.1	.	10.8953	0.47019	1.0:0.0:0.0:0.0	.	158;158;158	Q13029;Q13029-2;B1AJZ4	PRDM2_HUMAN;.;.	G	149;158;158;158;158	ENSP00000423010:S149G;ENSP00000365216:S158G;ENSP00000235372:S158G;ENSP00000312352:S158G	ENSP00000235372:S158G	S	+	1	0	PRDM2	13948530	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.082000	0.57635	1.732000	0.51606	0.524000	0.50904	AGC		0.716	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		4	24	0	0	0	1	0	4	24				
GPR133	283383	broad.mit.edu	37	12	131476897	131476897	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:131476897G>A	ENST00000261654.5	+	8	1485	c.926G>A	c.(925-927)aGt>aAt	p.S309N	RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Missense_Mutation_p.S341N	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	309					G-protein coupled receptor signaling pathway (GO:0007186)|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(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGCTTACCCAGTAAGTCCCTC	0.502																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(925-927)aGt>aAt		G protein-coupled receptor 133							142.0	137.0	138.0					12																	131476897		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131476897G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.926G>A	12.37:g.131476897G>A	ENSP00000261654:p.Ser309Asn					RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Missense_Mutation_p.S341N	p.S309N	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	8	1485	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		309					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.926G>A	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	1.131	-0.652320	0.03480	.	.	ENSG00000111452	ENST00000261654;ENST00000535015	T;T	0.32753	1.44;1.45	5.62	-4.26	0.03755	.	0.440019	0.25063	N	0.033425	T	0.06280	0.0162	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27262	-1.0079	10	0.02654	T	1	.	6.3708	0.21481	0.4122:0.2384:0.3493:0.0	.	341;309	B7ZLF7;Q6QNK2	.;GP133_HUMAN	N	309;341	ENSP00000261654:S309N;ENSP00000444425:S341N	ENSP00000261654:S309N	S	+	2	0	GPR133	130042850	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	1.705000	0.37867	-1.138000	0.02884	-0.302000	0.09304	AGT		0.502	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		56	96	0	0	0	1	0	56	96				
FAM161B	145483	broad.mit.edu	37	14	74404394	74404394	+	Missense_Mutation	SNP	G	G	A	rs373009826		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr14:74404394G>A	ENST00000534936.1	-	7	1681	c.1576C>T	c.(1576-1578)Cgt>Tgt	p.R526C	RP5-1021I20.5_ENST00000555916.1_RNA|FAM161B_ENST00000286544.3_Missense_Mutation_p.R589C			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	526										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GCTCTTTTACGGTCATTGTTC	0.368																																						ENST00000286544.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						c.(1765-1767)Cgt>Tgt		family with sequence similarity 161, member B		G	CYS/ARG	0,4406		0,0,2203	202.0	183.0	190.0		1765	5.4	1.0	14		190	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM161B	NM_152445.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	589/711	74404394	1,13005	2203	4300	6503	SO:0001583	missense	145483							g.chr14:74404394G>A	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.1576C>T	14.37:g.74404394G>A	ENSP00000445326:p.Arg526Cys					RP5-1021I20.5_ENST00000555916.1_RNA|FAM161B_ENST00000534936.1_Missense_Mutation_p.R526C	p.R589C	NM_152445.2	NP_689658.2					7	1963	-								B7Z882|J3KNA2	Missense_Mutation	SNP	ENST00000534936.1	37	c.1765C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.76|15.76	2.929551|2.929551	0.52759|0.52759	0.0|0.0	1.16E-4|1.16E-4	ENSG00000156050|ENSG00000156050	ENST00000556794|ENST00000286544;ENST00000534936	.|T;T	.|0.31247	.|1.5;1.5	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.093235	.|0.46145	.|D	.|0.000313	T|T	0.37919|0.37919	0.1021|0.1021	M|M	0.73598|0.73598	2.24|2.24	0.49051|0.49051	D|D	0.999742|0.999742	.|B	.|0.22346	.|0.068	.|B	.|0.20184	.|0.028	T|T	0.26258|0.26258	-1.0108|-1.0108	5|10	.|0.87932	.|D	.|0	-8.1175|-8.1175	15.8079|15.8079	0.78531|0.78531	0.0:0.0:0.8639:0.1361|0.0:0.0:0.8639:0.1361	.|.	.|526	.|Q96MY7	.|F161B_HUMAN	L|C	53|589;526	.|ENSP00000286544:R589C;ENSP00000445326:R526C	.|ENSP00000286544:R589C	P|R	-|-	2|1	0|0	FAM161B|FAM161B	73474147|73474147	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.598000|3.598000	0.54038|0.54038	2.827000|2.827000	0.97445|0.97445	0.650000|0.650000	0.86243|0.86243	CCG|CGT		0.368	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		4	146	0	0	0	1	0	4	146				
PRB2	653247	broad.mit.edu	37	12	11546491	11546491	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:11546491C>T	ENST00000389362.4	-	3	556	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	174	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.R153L(1)|p.R174L(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGAGGAGATCGAGAACTTCG	0.607																																						ENST00000389362.4																			2	Substitution - Missense(2)	p.R153L(1)|p.R174L(1)	endometrium(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(520-522)cGa>cAa		proline-rich protein BstNI subfamily 2							264.0	247.0	253.0					12																	11546491		2199	4297	6496	SO:0001583	missense	653247							g.chr12:11546491C>T	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.521G>A	12.37:g.11546491C>T	ENSP00000374013:p.Arg174Gln					PRB1_ENST00000546254.1_Intron	p.R174Q	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	556	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.521G>A	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	3.172	-0.169782	0.06461	.	.	ENSG00000121335	ENST00000389362	T	0.04502	3.61	1.49	-2.98	0.05513	.	0.218810	0.19223	N	0.119628	T	0.01592	0.0051	N	0.08118	0	0.09310	N	1	B	0.21452	0.056	B	0.06405	0.002	T	0.41680	-0.9495	10	0.12430	T	0.62	.	1.7752	0.03020	0.1638:0.1727:0.4605:0.203	.	174	P02812	PRB2_HUMAN	Q	174	ENSP00000374013:R174Q	ENSP00000374013:R174Q	R	-	2	0	PRB2	11437758	0.000000	0.05858	0.000000	0.03702	0.186000	0.23388	-1.297000	0.02759	-1.737000	0.01350	0.109000	0.15622	CGA		0.607	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		7	714	0	0	0	1	0	7	714				
TRIM54	57159	broad.mit.edu	37	2	27505647	27505647	+	Missense_Mutation	SNP	C	C	A	rs112902769		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:27505647C>A	ENST00000380075.2	+	1	388	c.48C>A	c.(46-48)agC>agA	p.S16R	TRIM54_ENST00000296098.4_Missense_Mutation_p.S16R	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	16					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGCACACAGCATGGACAACC	0.592																																						ENST00000296098.4																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(46-48)agC>agA		tripartite motif containing 54							236.0	201.0	213.0					2																	27505647		2203	4300	6503	SO:0001583	missense	57159				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding	g.chr2:27505647C>A	AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.48C>A	2.37:g.27505647C>A	ENSP00000369415:p.Ser16Arg					TRIM54_ENST00000380075.2_Missense_Mutation_p.S16R	p.S16R	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN			1	318	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		16					A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	ENST00000380075.2	37	c.48C>A	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	C	17.34	3.363660	0.61513	.	.	ENSG00000138100	ENST00000380075;ENST00000296098	T;T	0.42900	1.21;0.96	5.43	5.43	0.79202	Zinc finger, RING/FYVE/PHD-type (1);	0.229129	0.46442	D	0.000287	T	0.39064	0.1064	L	0.37850	1.14	0.38016	D	0.93469	B;B	0.33212	0.402;0.249	B;B	0.35813	0.187;0.211	T	0.45396	-0.9264	10	0.62326	D	0.03	-18.8468	16.7353	0.85445	0.0:1.0:0.0:0.0	.	16;16	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	R	16	ENSP00000369415:S16R;ENSP00000296098:S16R	ENSP00000296098:S16R	S	+	3	2	TRIM54	27359151	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	2.486000	0.45259	2.539000	0.85634	0.462000	0.41574	AGC		0.592	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841		5	400	1	0	8.12818e-05	1	8.55598e-05	5	400				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	66	0	0	0	1	0	4	66				
PPP1R14C	81706	broad.mit.edu	37	6	150464598	150464598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:150464598G>A	ENST00000361131.4	+	1	387	c.270G>A	c.(268-270)tgG>tgA	p.W90*		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	90					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)|membrane (GO:0016020)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		TGGAGGAATGGATCGTGGAGC	0.622																																					Melanoma(165;1879 1941 2052 16588 48349)	ENST00000361131.4																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(268-270)tgG>tgA		protein phosphatase 1, regulatory (inhibitor) subunit 14C							34.0	35.0	35.0					6																	150464598		2202	4300	6502	SO:0001587	stop_gained	81706				regulation of phosphorylation	cytoplasm|membrane		g.chr6:150464598G>A	AF308297	CCDS5226.1	6q24.3-q25.3	2012-04-17			ENSG00000198729	ENSG00000198729		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14952	protein-coding gene	gene with protein product	"""kinase C-enhanced PP1 inhibitor"""	613242				11948623	Standard	NM_030949		Approved	CPI17-like, NY-BR-81, KEPI	uc003qnt.3	Q8TAE6	OTTHUMG00000015818	ENST00000361131.4:c.270G>A	6.37:g.150464598G>A	ENSP00000355260:p.Trp90*						p.W90*	NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)	1	387	+		Ovarian(120;0.0284)	90					Q5VY83|Q96BB1|Q9H277	Nonsense_Mutation	SNP	ENST00000361131.4	37	c.270G>A	CCDS5226.1	.	.	.	.	.	.	.	.	.	.	G	39	7.869263	0.98534	.	.	ENSG00000198729	ENST00000361131	.	.	.	4.29	4.29	0.51040	.	0.133020	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-39.989	15.8218	0.78654	0.0:0.0:1.0:0.0	.	.	.	.	X	90	.	ENSP00000355260:W90X	W	+	3	0	PPP1R14C	150506291	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.844000	0.92147	1.922000	0.55676	0.632000	0.83419	TGG		0.622	PPP1R14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042685.1	NM_030949		5	34	0	0	0	1	0	5	34				
ZFPL1	7542	broad.mit.edu	37	11	64854194	64854194	+	Silent	SNP	C	C	T	rs201531261		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr11:64854194C>T	ENST00000294258.3	+	5	563	c.411C>T	c.(409-411)atC>atT	p.I137I	CDCA5_ENST00000404147.3_5'Flank|CDCA5_ENST00000275517.3_5'Flank|AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	137					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						TCCTCCAGATCGATGAGGTGG	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18353	0.0		0.0	False		,,,				2504	0.0					ENST00000294258.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(409-411)atC>atT		zinc finger protein-like 1							163.0	156.0	158.0					11																	64854194		2201	4297	6498	SO:0001819	synonymous_variant	7542				regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding	g.chr11:64854194C>T		CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"""zinc-finger protein in MEN1 region"""					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.411C>T	11.37:g.64854194C>T							p.I137I	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN			5	563	+			137					A8K7E9|O14616|Q9UID0	Silent	SNP	ENST00000294258.3	37	c.411C>T	CCDS8092.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.80	1.745766	0.30955	.	.	ENSG00000162300	ENST00000530488	.	.	.	5.27	-6.15	0.02105	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.4207	13.6687	0.62412	0.0:0.3082:0.0:0.6918	.	.	.	.	X	31	.	.	R	+	1	2	ZFPL1	64610770	0.003000	0.15002	0.903000	0.35520	0.971000	0.66376	-2.433000	0.01021	-1.106000	0.03008	-0.378000	0.06908	CGA		0.567	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	NM_006782		21	159	0	0	0	1	0	21	159				
LOC100128164	100128164	broad.mit.edu	37	3	169664511	169664511	+	RNA	SNP	T	T	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:169664511T>C	ENST00000487580.1	-	0	263				RP11-379K17.4_ENST00000483289.2_RNA|RP11-379K17.4_ENST00000600502.1_RNA																							GTCCCTGCAGTAGAGACAGTC	0.512																																						ENST00000483289.2																			0																																																			100128164							g.chr3:169664511T>C																													3.37:g.169664511T>C						RP11-379K17.4_ENST00000487580.1_RNA		NR_027622.1						0	2783	-									RNA	SNP	ENST00000487580.1	37																																																																																						0.512	RP11-379K17.4-003	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000351957.1			40	65	0	0	0	1	0	40	65				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G	rs372261324		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATCTTCTGCAATTCGGAGTCC	0.652																																						ENST00000432432.2																			0																																																			729171							g.chr2:95522815A>G			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522815A>G								NR_040113.1						0	212	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.652	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			5	129	0	0	0	1	0	5	129				
FAM83D	81610	broad.mit.edu	37	20	37580850	37580850	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr20:37580850C>G	ENST00000217429.4	+	4	1576	c.1535C>G	c.(1534-1536)tCt>tGt	p.S512C		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	482					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.S512C(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TCCTCTGTGTCTTCCCAAGGC	0.507																																						ENST00000217429.4																			1	Substitution - Missense(1)	p.S512C(1)	lung(1)	endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(1534-1536)tCt>tGt		family with sequence similarity 83, member D							80.0	79.0	79.0					20																	37580850		1951	4144	6095	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37580850C>G	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1535C>G	20.37:g.37580850C>G	ENSP00000217429:p.Ser512Cys						p.S512C	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			4	1576	+		Myeloproliferative disorder(115;0.00878)	482					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.1535C>G	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075850	0.76415	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.24350	1.86	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000002	T	0.54615	0.1869	M	0.74881	2.28	0.50313	D	0.999869	D	0.89917	1.0	D	0.85130	0.997	T	0.55192	-0.8179	10	0.72032	D	0.01	.	19.6122	0.95610	0.0:1.0:0.0:0.0	.	482	Q9H4H8	FA83D_HUMAN	C	512;466	ENSP00000217429:S512C	ENSP00000217429:S512C	S	+	2	0	FAM83D	37014264	0.994000	0.37717	1.000000	0.80357	0.939000	0.58152	3.850000	0.55918	2.793000	0.96121	0.655000	0.94253	TCT		0.507	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			12	124	0	0	0	1	0	12	124				
CSF1R	1436	broad.mit.edu	37	5	149433887	149433887	+	Missense_Mutation	SNP	G	G	A	rs202216061		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr5:149433887G>A	ENST00000286301.3	-	21	3052	c.2761C>T	c.(2761-2763)Cgg>Tgg	p.R921W		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	921			R -> Q (in dbSNP:rs56059682). {ECO:0000269|PubMed:17344846}.		cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CCACTCACCCGCTCTCTCCTG	0.632																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(2761-2763)Cgg>Tgg		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)	G	TRP/ARG	0,4406		0,0,2203	69.0	55.0	60.0		2761	4.4	1.0	5		60	2,8598	2.2+/-6.3	0,2,4298	no	missense	CSF1R	NM_005211.3	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	921/973	149433887	2,13004	2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149433887G>A	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2761C>T	5.37:g.149433887G>A	ENSP00000286301:p.Arg921Trp						p.R921W	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		21	3052	-			921		R -> Q (in dbSNP:rs56059682).			B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.2761C>T	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227824	0.39399	0.0	2.33E-4	ENSG00000182578	ENST00000286301	T	0.25414	1.8	5.31	4.42	0.53409	.	0.547711	0.16559	N	0.209128	T	0.18923	0.0454	L	0.29908	0.895	0.80722	D	1	D	0.59357	0.985	B	0.40534	0.332	T	0.01977	-1.1236	10	0.62326	D	0.03	.	10.5716	0.45204	0.0:0.1435:0.7075:0.149	.	921	P07333	CSF1R_HUMAN	W	921	ENSP00000286301:R921W	ENSP00000286301:R921W	R	-	1	2	CSF1R	149414080	0.573000	0.26676	0.960000	0.40013	0.015000	0.08874	3.707000	0.54838	1.188000	0.43014	0.563000	0.77884	CGG		0.632	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		10	69	0	0	0	1	0	10	69				
SRSF8	10929	broad.mit.edu	37	11	94801081	94801081	+	RNA	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr11:94801081G>T	ENST00000529911.1	+	0	721					NM_032102.3	NP_115285.1	Q9BRL6	SRSF8_HUMAN	serine/arginine-rich splicing factor 8						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										TCTGCGCGACGATCCAAGTCC	0.577																																						ENST00000529911.1																			0													serine/arginine-rich splicing factor 8							72.0	79.0	77.0					11																	94801081		2171	4290	6461			10929				mRNA processing|RNA splicing	nucleus	nucleotide binding|RNA binding	g.chr11:94801081G>T	AF031166	CCDS73370.1	11q21	2014-05-06	2010-06-22	2010-06-22	ENSG00000180771	ENSG00000263465		"""Serine/arginine-rich splicing factors"""	16988	protein-coding gene	gene with protein product	"""SR splicing factor 8"""	603269	"""splicing factor, arginine/serine-rich 2B"""	SFRS2B		9671500, 20516191	Standard	NM_032102		Approved	SRP46	uc001pff.3	Q9BRL6	OTTHUMG00000188534		11.37:g.94801081G>T								NM_032102.3	NP_115285.1	Q9BRL6	SRSF8_HUMAN			0	721	+								B2R6B8|Q6PF01|Q96TA3	RNA	SNP	ENST00000529911.1	37																																																																																						0.577	SRSF8-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000390962.3	NM_032102		20	76	1	0	2.94398e-08	1	3.27109e-08	20	76				
VANGL1	81839	broad.mit.edu	37	1	116206355	116206355	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:116206355C>T	ENST00000355485.2	+	4	549	c.278C>T	c.(277-279)gCc>gTc	p.A93V	VANGL1_ENST00000310260.3_Missense_Mutation_p.A93V|VANGL1_ENST00000369509.1_Missense_Mutation_p.A93V|VANGL1_ENST00000369510.4_Missense_Mutation_p.A91V	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	93					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GAGGACATTGCCAGGATCAGC	0.567																																						ENST00000355485.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27						c.(277-279)gCc>gTc		VANGL planar cell polarity protein 1							155.0	139.0	145.0					1																	116206355		2203	4300	6503	SO:0001583	missense	81839				multicellular organismal development	integral to membrane	protein binding	g.chr1:116206355C>T	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.278C>T	1.37:g.116206355C>T	ENSP00000347672:p.Ala93Val					VANGL1_ENST00000310260.3_Missense_Mutation_p.A93V|VANGL1_ENST00000369510.3_Missense_Mutation_p.A91V|VANGL1_ENST00000369509.1_Missense_Mutation_p.A93V	p.A93V	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	4	549	+	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)	93					Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	c.278C>T	CCDS883.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900384	0.52227	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	4.92	4.01	0.46588	.	0.236395	0.42964	N	0.000622	T	0.57695	0.2071	L	0.27053	0.805	0.47778	D	0.999512	B;B	0.25048	0.096;0.117	B;B	0.25884	0.038;0.064	T	0.60301	-0.7290	10	0.41790	T	0.15	-0.0543	13.7877	0.63119	0.0:0.9258:0.0:0.0742	.	91;93	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	V	93;91;93;93	ENSP00000347672:A93V;ENSP00000358523:A91V;ENSP00000310800:A93V;ENSP00000358522:A93V	ENSP00000310800:A93V	A	+	2	0	VANGL1	116007878	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	2.622000	0.46427	1.442000	0.47568	0.650000	0.86243	GCC		0.567	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			4	112	0	0	0	1	0	4	112				
CNTNAP5	129684	broad.mit.edu	37	2	125547535	125547535	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:125547535A>T	ENST00000431078.1	+	18	3170	c.2806A>T	c.(2806-2808)Aat>Tat	p.N936Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	936	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTACACTTGAATGGACAGAA	0.502																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2806-2808)Aat>Tat		contactin associated protein-like 5							64.0	65.0	64.0					2																	125547535		2051	4206	6257	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125547535A>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2806A>T	2.37:g.125547535A>T	ENSP00000399013:p.Asn936Tyr						p.N936Y	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	18	3170	+			936			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2806A>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.531493	0.85706	.	.	ENSG00000155052	ENST00000431078	D	0.88664	-2.41	5.24	5.24	0.73138	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.53938	D	0.000047	D	0.96741	0.8936	H	0.98388	4.22	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98210	1.0472	10	0.87932	D	0	.	14.602	0.68447	1.0:0.0:0.0:0.0	.	936	Q8WYK1	CNTP5_HUMAN	Y	936	ENSP00000399013:N936Y	ENSP00000399013:N936Y	N	+	1	0	CNTNAP5	125264005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.185000	0.94900	2.116000	0.64780	0.533000	0.62120	AAT		0.502	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			5	89	0	0	0	1	0	5	89				
EPHB1	2047	broad.mit.edu	37	3	134880877	134880877	+	Silent	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:134880877C>T	ENST00000398015.3	+	7	1810	c.1440C>T	c.(1438-1440)aaC>aaT	p.N480N	EPHB1_ENST00000493838.1_Silent_p.N41N	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	480	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ATGAGTTCAACTCCTCCATGG	0.552																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1438-1440)aaC>aaT		EPH receptor B1							93.0	97.0	96.0					3																	134880877		2069	4218	6287	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134880877C>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1440C>T	3.37:g.134880877C>T						EPHB1_ENST00000493838.1_Silent_p.N41N	p.N480N	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			7	1810	+			480			Fibronectin type-III 2.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1440C>T	CCDS46921.1																																																																																				0.552	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		24	78	0	0	0	1	0	24	78				
CPNE6	9362	broad.mit.edu	37	14	24546877	24546877	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr14:24546877G>A	ENST00000397016.2	+	17	1923	c.1612G>A	c.(1612-1614)Ggc>Agc	p.G538S	CPNE6_ENST00000216775.2_Missense_Mutation_p.G538S|CPNE6_ENST00000537691.1_Missense_Mutation_p.G593S	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	538					lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CGCCAGCCAGGGCATCAGCCC	0.667																																						ENST00000397016.2																			0				endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22						c.(1612-1614)Ggc>Agc		copine VI (neuronal)							53.0	58.0	56.0					14																	24546877		2203	4298	6501	SO:0001583	missense	9362				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	g.chr14:24546877G>A	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.1612G>A	14.37:g.24546877G>A	ENSP00000380211:p.Gly538Ser					CPNE6_ENST00000216775.2_Missense_Mutation_p.G538S|CPNE6_ENST00000537691.1_Missense_Mutation_p.G593S	p.G538S			O95741	CPNE6_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	17	1923	+			538					B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	ENST00000397016.2	37	c.1612G>A	CCDS9607.1	.	.	.	.	.	.	.	.	.	.	G	33	5.240600	0.95240	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.08008	3.14;3.17;3.17	4.63	4.63	0.57726	.	0.000000	0.48767	D	0.000179	T	0.20495	0.0493	M	0.67517	2.055	0.46749	D	0.999187	P;P	0.51147	0.94;0.942	P;P	0.53760	0.734;0.715	T	0.00406	-1.1759	10	0.66056	D	0.02	-31.6754	15.0298	0.71698	0.0:0.0:1.0:0.0	.	593;538	F5GXN1;O95741	.;CPNE6_HUMAN	S	593;538;538	ENSP00000440077:G593S;ENSP00000380211:G538S;ENSP00000216775:G538S	ENSP00000216775:G538S	G	+	1	0	CPNE6	23616717	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.601000	0.82783	2.386000	0.81285	0.561000	0.74099	GGC		0.667	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			50	217	0	0	0	1	0	50	217				
HSPA12A	259217	broad.mit.edu	37	10	118434597	118434597	+	Missense_Mutation	SNP	C	C	G	rs368656432		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr10:118434597C>G	ENST00000369209.3	-	12	1827	c.1723G>C	c.(1723-1725)Gac>Cac	p.D575H	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	575						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		ACAGACTGGTCGGCAGAGATG	0.592																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1723-1725)Gac>Cac		heat shock 70kDa protein 12A							58.0	63.0	61.0					10																	118434597		2111	4210	6321	SO:0001583	missense	259217						ATP binding	g.chr10:118434597C>G	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1723G>C	10.37:g.118434597C>G	ENSP00000358211:p.Asp575His						p.D575H	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	12	1827	-			575						Missense_Mutation	SNP	ENST00000369209.3	37	c.1723G>C	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962107	0.74016	.	.	ENSG00000165868	ENST00000369209	T	0.46819	0.86	5.93	4.07	0.47477	.	0.043521	0.85682	D	0.000000	T	0.65943	0.2740	M	0.77616	2.38	0.80722	D	1	D	0.62365	0.991	D	0.69307	0.963	T	0.69187	-0.5211	10	0.56958	D	0.05	.	11.4694	0.50259	0.0:0.806:0.1269:0.0671	.	575	O43301	HS12A_HUMAN	H	575	ENSP00000358211:D575H	ENSP00000358211:D575H	D	-	1	0	HSPA12A	118424587	1.000000	0.71417	0.912000	0.35992	0.972000	0.66771	4.681000	0.61663	1.505000	0.48720	0.655000	0.94253	GAC		0.592	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		26	64	0	0	0	1	0	26	64				
OR8B12	219858	broad.mit.edu	37	11	124413211	124413211	+	Silent	SNP	G	G	A	rs558889304		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr11:124413211G>A	ENST00000306842.2	-	1	364	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		ATCGCTGACAGGATGAAGGAC	0.488																																						ENST00000306842.2																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(340-342)Ctg>Ttg		olfactory receptor, family 8, subfamily B, member 12							91.0	82.0	85.0					11																	124413211		2201	4299	6500	SO:0001819	synonymous_variant	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124413211G>A		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.340C>T	11.37:g.124413211G>A							p.L114L	NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	364	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	114					B2RNF6|Q6IEW8|Q96RC7	Silent	SNP	ENST00000306842.2	37	c.340C>T	CCDS31711.1																																																																																				0.488	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			19	49	0	0	0	1	0	19	49				
PROM2	150696	broad.mit.edu	37	2	95947717	95947717	+	Silent	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:95947717G>A	ENST00000317620.9	+	13	1729	c.1596G>A	c.(1594-1596)tcG>tcA	p.S532S	PROM2_ENST00000403131.2_Silent_p.S532S|PROM2_ENST00000542147.1_Silent_p.S532S|PROM2_ENST00000317668.4_Silent_p.S532S	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	532					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TGAACCTGTCGCAACTTCTTG	0.627																																						ENST00000317620.9																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1594-1596)tcG>tcA		prominin 2							108.0	97.0	101.0					2																	95947717		2203	4300	6503	SO:0001819	synonymous_variant	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95947717G>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1596G>A	2.37:g.95947717G>A						PROM2_ENST00000403131.2_Silent_p.S532S|PROM2_ENST00000542147.1_Silent_p.S532S|PROM2_ENST00000317668.4_Silent_p.S532S	p.S532S	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN			13	1729	+			532					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	ENST00000317620.9	37	c.1596G>A	CCDS2012.1																																																																																				0.627	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		4	138	0	0	0	1	0	4	138				
CCR2	729230	broad.mit.edu	37	3	46399758	46399758	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:46399758C>T	ENST00000400888.2	+	1	779	c.740C>T	c.(739-741)aCc>aTc	p.T247I	CCR2_ENST00000292301.4_Missense_Mutation_p.T247I|CCR2_ENST00000445132.2_Missense_Mutation_p.T247I|CCR2_ENST00000465202.1_3'UTR			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	247					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GTCATCTTCACCATCATGATT	0.473																																						ENST00000292301.4																			0				breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14						c.(739-741)aCc>aTc		chemokine (C-C motif) receptor 2							184.0	172.0	176.0					3																	46399758		1568	3582	5150	SO:0001583	missense	729230				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	g.chr3:46399758C>T		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.740C>T	3.37:g.46399758C>T	ENSP00000383681:p.Thr247Ile					CCR2_ENST00000445132.2_Missense_Mutation_p.T247I|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000400888.2_Missense_Mutation_p.T247I	p.T247I	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	1225	+			247					A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	c.740C>T	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	C	9.228	1.035128	0.19590	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000400888	T;T;T	0.34072	1.38;1.38;1.38	5.0	2.61	0.31194	GPCR, rhodopsin-like superfamily (1);	1.005920	0.07995	N	0.987869	T	0.18676	0.0448	N	0.11000	0.08	0.25104	N	0.990764	B;B	0.16166	0.016;0.005	B;B	0.17098	0.017;0.006	T	0.25117	-1.0141	10	0.24483	T	0.36	.	4.7554	0.13080	0.0:0.3635:0.0:0.6365	.	247;247	P41597;Q4VBL2	CCR2_HUMAN;.	I	247	ENSP00000399285:T247I;ENSP00000292301:T247I;ENSP00000383681:T247I	ENSP00000292301:T247I	T	+	2	0	CCR2	46374762	0.000000	0.05858	1.000000	0.80357	0.399000	0.30720	0.730000	0.26043	1.131000	0.42111	0.644000	0.83932	ACC		0.473	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		64	143	0	0	0	1	0	64	143				
LRP2	4036	broad.mit.edu	37	2	170099557	170099557	+	Missense_Mutation	SNP	G	G	C	rs181448146		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:170099557G>C	ENST00000263816.3	-	24	3861	c.3576C>G	c.(3574-3576)ttC>ttG	p.F1192L	LRP2_ENST00000443831.1_Missense_Mutation_p.F1055L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1192	LDL-receptor class A 12. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGGCACACTTGAATTGAGAAG	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		19784	0.0		0.001	False		,,,				2504	0.0					ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(3574-3576)ttC>ttG		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	G	LEU/PHE	0,4406		0,0,2203	105.0	100.0	102.0		3576	4.0	1.0	2		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP2	NM_004525.2	22	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging	1192/4656	170099557	1,13005	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170099557G>C		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3576C>G	2.37:g.170099557G>C	ENSP00000263816:p.Phe1192Leu					LRP2_ENST00000443831.1_Missense_Mutation_p.F1055L	p.F1192L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	24	3861	-			1192			LDL-receptor class A 12.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.3576C>G	CCDS2232.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	22.1	4.240478	0.79912	0.0	1.16E-4	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.98889	-5.21;-5.21	5.76	3.96	0.45880	.	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.996	D	0.99441	1.0938	10	0.66056	D	0.02	.	7.8724	0.29573	0.2669:0.0:0.7331:0.0	.	1055;1192	E9PC35;P98164	.;LRP2_HUMAN	L	1192;1055	ENSP00000263816:F1192L;ENSP00000409813:F1055L	ENSP00000263816:F1192L	F	-	3	2	LRP2	169807803	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.737000	0.38197	1.438000	0.47492	0.655000	0.94253	TTC		0.378	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		10	109	0	0	0	1	0	10	109				
CHD4	1108	broad.mit.edu	37	12	6710853	6710853	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:6710853C>T	ENST00000357008.2	-	5	681	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	CHD4_ENST00000309577.6_Missense_Mutation_p.R173Q|CHD4_ENST00000544040.1_Missense_Mutation_p.R166Q|CHD4_ENST00000544484.1_Missense_Mutation_p.R170Q	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	173					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GGTGAGGGTTCGATAATCCTC	0.488																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(517-519)cGa>cAa		chromodomain helicase DNA binding protein 4							275.0	278.0	277.0					12																	6710853		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6710853C>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.518G>A	12.37:g.6710853C>T	ENSP00000349508:p.Arg173Gln					CHD4_ENST00000544040.1_Missense_Mutation_p.R166Q|CHD4_ENST00000544484.1_Missense_Mutation_p.R170Q|CHD4_ENST00000357008.2_Missense_Mutation_p.R173Q	p.R173Q			Q14839	CHD4_HUMAN			5	681	-			173					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.518G>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.593749	0.28445	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	D;D;D;D;T	0.89415	-2.5;-2.51;-2.5;-2.5;0.97	5.87	4.98	0.66077	CHD, N-terminal (1);	0.228496	0.32081	N	0.006603	T	0.71634	0.3363	N	0.02751	-0.505	0.42620	D	0.993341	P;P;P	0.41673	0.681;0.705;0.759	B;B;B	0.41571	0.093;0.36;0.162	T	0.75499	-0.3296	10	0.02654	T	1	-0.807	10.6117	0.45425	0.0:0.8576:0.0:0.1424	.	173;173;166	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	Q	170;166;173;173;147;173	ENSP00000440392:R170Q;ENSP00000440542:R166Q;ENSP00000312419:R173Q;ENSP00000349508:R173Q;ENSP00000437506:R173Q	ENSP00000312419:R173Q	R	-	2	0	CHD4	6581114	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	1.671000	0.37513	2.774000	0.95407	0.650000	0.86243	CGA		0.488	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		5	488	0	0	0	1	0	5	488				
STKLD1	169436	broad.mit.edu	37	9	136268926	136268926	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:136268926G>C	ENST00000371957.3	+	15	1684	c.1577G>C	c.(1576-1578)gGa>gCa	p.G526A	C9orf96_ENST00000371955.1_Missense_Mutation_p.G59A	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		526							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCCAGCTGCGGAGTCTTCTGG	0.657																																						ENST00000371957.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25						c.(1576-1578)gGa>gCa		chromosome 9 open reading frame 96							38.0	40.0	39.0					9																	136268926		2203	4300	6503	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136268926G>C																												ENST00000371957.3:c.1577G>C	9.37:g.136268926G>C	ENSP00000361025:p.Gly526Ala					C9orf96_ENST00000371955.1_Missense_Mutation_p.G59A	p.G526A	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	15	1684	+			526					Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.1577G>C	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.333947	0.00227	.	.	ENSG00000198870	ENST00000371957;ENST00000371955	T;T	0.48836	0.8;0.82	4.6	-1.26	0.09376	Armadillo-like helical (1);Armadillo-type fold (1);	0.903234	0.09445	N	0.801234	T	0.18841	0.0452	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28202	-1.0051	10	0.02654	T	1	-1.3567	18.7579	0.91839	0.0:0.2289:0.7711:0.0	.	526	Q8NE28	SGK71_HUMAN	A	526;59	ENSP00000361025:G526A;ENSP00000361023:G59A	ENSP00000361023:G59A	G	+	2	0	C9orf96	135258747	0.000000	0.05858	0.002000	0.10522	0.034000	0.12701	-0.091000	0.11146	-0.438000	0.07232	-0.270000	0.10280	GGA		0.657	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			19	51	0	0	0	1	0	19	51				
RFX4	5992	broad.mit.edu	37	12	107141334	107141334	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:107141334G>A	ENST00000392842.1	+	16	2167	c.1753G>A	c.(1753-1755)Gtc>Atc	p.V585I	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.V594I|RFX4_ENST00000229387.5_Missense_Mutation_p.V491I	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	585					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TTCTTCCTCCGTCACACACAG	0.507																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1753-1755)Gtc>Atc		regulatory factor X, 4 (influences HLA class II expression)							113.0	100.0	104.0					12																	107141334		2203	4300	6503	SO:0001583	missense	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107141334G>A	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1753G>A	12.37:g.107141334G>A	ENSP00000376585:p.Val585Ile					RFX4_ENST00000229387.5_Missense_Mutation_p.V491I|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.V594I	p.V585I	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			16	2167	+			585					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.1753G>A	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450537	0.63290	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000229387	T;T;T	0.68331	-0.31;-0.32;0.66	5.69	5.69	0.88448	.	0.117673	0.64402	D	0.000017	T	0.50480	0.1618	N	0.14661	0.345	0.41753	D	0.98967	P;P;B	0.47191	0.891;0.468;0.167	B;B;B	0.36504	0.226;0.055;0.012	T	0.55692	-0.8101	10	0.38643	T	0.18	-15.0409	19.8307	0.96634	0.0:0.0:1.0:0.0	.	491;594;585	B2RDW4;Q33E94-2;Q33E94	.;.;RFX4_HUMAN	I	585;594;491	ENSP00000376585:V585I;ENSP00000350552:V594I;ENSP00000229387:V491I	ENSP00000229387:V491I	V	+	1	0	RFX4	105665464	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.823000	0.75282	2.678000	0.91216	0.655000	0.94253	GTC		0.507	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		30	73	0	0	0	1	0	30	73				
HBS1L	10767	broad.mit.edu	37	6	135306526	135306526	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:135306526C>T	ENST00000367837.5	-	12	1651	c.1445G>A	c.(1444-1446)cGa>cAa	p.R482Q	HBS1L_ENST00000367826.2_Missense_Mutation_p.R440Q|HBS1L_ENST00000445176.2_Missense_Mutation_p.R206Q|HBS1L_ENST00000415177.2_Missense_Mutation_p.R417Q|HBS1L_ENST00000367824.4_Missense_Mutation_p.R318Q|HBS1L_ENST00000527578.1_Missense_Mutation_p.R318Q	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	482	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GTCAATAGATCGCTGGGGAGG	0.353																																						ENST00000367837.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20						c.(1444-1446)cGa>cAa		HBS1-like (S. cerevisiae)							146.0	148.0	147.0					6																	135306526		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135306526C>T	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1445G>A	6.37:g.135306526C>T	ENSP00000356811:p.Arg482Gln					HBS1L_ENST00000415177.2_Missense_Mutation_p.R417Q|HBS1L_ENST00000367826.2_Missense_Mutation_p.R440Q|HBS1L_ENST00000367824.4_Missense_Mutation_p.R318Q|HBS1L_ENST00000527578.1_Missense_Mutation_p.R318Q|HBS1L_ENST00000445176.2_Missense_Mutation_p.R206Q	p.R482Q	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	12	1651	-	Colorectal(23;0.221)		482					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.1445G>A	CCDS5173.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.684461|5.684461	0.96774|0.96774	.|.	.|.	ENSG00000112339|ENSG00000112339	ENST00000529169|ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176	.|T;T;T;T;T;T;T	.|0.48836	.|0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.79|5.79	5.79|5.79	0.91817|0.91817	.|Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76399|0.76399	0.3982|0.3982	H|H	0.94886|0.94886	3.595|3.595	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.997	T|T	0.82563|0.82563	-0.0395|-0.0395	5|10	.|0.87932	.|D	.|0	-23.0942|-23.0942	20.0371|20.0371	0.97565|0.97565	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|440;482	.|Q9Y450-4;Q9Y450	.|.;HBS1L_HUMAN	N|Q	106|482;318;417;440;318;352;206	.|ENSP00000356811:R482Q;ENSP00000436256:R318Q;ENSP00000389826:R417Q;ENSP00000356800:R440Q;ENSP00000356798:R318Q;ENSP00000434533:R352Q;ENSP00000415305:R206Q	.|ENSP00000356798:R318Q	D|R	-|-	1|2	0|0	HBS1L|HBS1L	135348219|135348219	0.983000|0.983000	0.35010|0.35010	0.990000|0.990000	0.47175|0.47175	0.979000|0.979000	0.70002|0.70002	5.413000|5.413000	0.66399|0.66399	2.734000|2.734000	0.93682|0.93682	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.353	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			4	185	0	0	0	1	0	4	185				
TP53	7157	broad.mit.edu	37	17	7577550	7577550	+	Missense_Mutation	SNP	C	C	A	rs397516437		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:7577550C>A	ENST00000269305.4	-	7	920	c.731G>T	c.(730-732)gGc>gTc	p.G244V	TP53_ENST00000420246.2_Missense_Mutation_p.G244V|TP53_ENST00000445888.2_Missense_Mutation_p.G244V|TP53_ENST00000455263.2_Missense_Mutation_p.G244V|TP53_ENST00000413465.2_Missense_Mutation_p.G244V|TP53_ENST00000359597.4_Missense_Mutation_p.G244V|TP53_ENST00000574684.1_5'Flank	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	244	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; 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.G244D(47)|p.G244V(14)|p.G244A(9)|p.0?(8)|p.?(5)|p.G151D(4)|p.G244fs*4(3)|p.G244_M246>V(3)|p.G244fs*19(1)|p.G151_M153>V(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.G244E(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(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)	GTTCATGCCGCCCATGCAGGA	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		104	Substitution - Missense(75)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Insertion - Frameshift(4)|Deletion - Frameshift(4)|Deletion - In frame(3)	p.G244D(47)|p.G244V(14)|p.G244A(9)|p.0?(8)|p.?(5)|p.G151D(4)|p.G244fs*4(3)|p.G244_M246>V(3)|p.G244fs*19(1)|p.G151_M153>V(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.G244E(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)	large_intestine(21)|liver(16)|haematopoietic_and_lymphoid_tissue(9)|ovary(9)|stomach(7)|breast(7)|lung(7)|biliary_tract(6)|upper_aerodigestive_tract(4)|urinary_tract(4)|bone(4)|central_nervous_system(3)|oesophagus(2)|cervix(1)|vulva(1)|endometrium(1)|salivary_gland(1)|prostate(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	CM056069|CM070298	TP53	M	rs28934572	c.(730-732)gGc>gTc	Other conserved DNA damage response genes	tumor protein p53							148.0	111.0	124.0					17																	7577550		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.chr17:7577550C>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.731G>T	17.37:g.7577550C>A	ENSP00000269305:p.Gly244Val	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_ENST00000455263.2_Missense_Mutation_p.G244V|TP53_ENST00000269305.4_Missense_Mutation_p.G244V|TP53_ENST00000445888.2_Missense_Mutation_p.G244V|TP53_ENST00000413465.2_Missense_Mutation_p.G244V|TP53_ENST00000359597.4_Missense_Mutation_p.G244V	p.G244V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	863	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	244		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.731G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566679	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99894	0.9949	M	0.90759	3.145	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0	D	0.96044	0.9026	10	0.87932	D	0	-29.0146	15.3618	0.74483	0.0:1.0:0.0:0.0	.	244;244;151;244;244;244	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	244;244;244;244;244;244;233;151;112;151	ENSP00000410739:G244V;ENSP00000352610:G244V;ENSP00000269305:G244V;ENSP00000398846:G244V;ENSP00000391127:G244V;ENSP00000391478:G244V;ENSP00000425104:G112V;ENSP00000423862:G151V	ENSP00000269305:G244V	G	-	2	0	TP53	7518275	1.000000	0.71417	0.965000	0.40720	0.979000	0.70002	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	85	1	0	0.000442599	1	0.000456877	10	85				
IQCF1	132141	broad.mit.edu	37	3	51929136	51929136	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:51929136T>C	ENST00000310914.5	-	4	450	c.388A>G	c.(388-390)Aca>Gca	p.T130A		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	130	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.									central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GACTGCAGTGTGACTGCTGCC	0.602																																						ENST00000310914.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12						c.(388-390)Aca>Gca		IQ motif containing F1							69.0	63.0	65.0					3																	51929136		2203	4300	6503	SO:0001583	missense	132141							g.chr3:51929136T>C	BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.388A>G	3.37:g.51929136T>C	ENSP00000307958:p.Thr130Ala						p.T130A	NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	450	-			130			IQ 2.		Q8N711	Missense_Mutation	SNP	ENST00000310914.5	37	c.388A>G	CCDS2836.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.647183	0.47258	.	.	ENSG00000173389	ENST00000310914	T	0.27256	1.68	4.75	3.55	0.40652	.	0.711220	0.13237	N	0.403139	T	0.17577	0.0422	L	0.29908	0.895	0.19575	N	0.999968	B	0.21688	0.059	B	0.19666	0.026	T	0.23976	-1.0173	10	0.23302	T	0.38	-25.5328	8.4	0.32581	0.0:0.0:0.1988:0.8012	.	130	Q8N6M8	IQCF1_HUMAN	A	130	ENSP00000307958:T130A	ENSP00000307958:T130A	T	-	1	0	IQCF1	51904176	0.532000	0.26346	0.756000	0.31282	0.857000	0.48899	0.566000	0.23593	0.912000	0.36772	0.448000	0.29417	ACA		0.602	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346568.1	NM_152397		46	67	0	0	0	1	0	46	67				
PHF19	26147	broad.mit.edu	37	9	123632816	123632816	+	Splice_Site	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:123632816G>T	ENST00000373896.3	-	4	521	c.269C>A	c.(268-270)gCc>gAc	p.A90D	PHF19_ENST00000487555.1_5'Flank|PHF19_ENST00000419155.1_5'Flank|PHF19_ENST00000312189.6_Splice_Site_p.A90D	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	90	Tudor.				chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGAACACCGGCTGAAAGAGA	0.567																																						ENST00000373896.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e4-1		PHD finger protein 19							86.0	78.0	81.0					9																	123632816		2203	4300	6503	SO:0001630	splice_region_variant	26147				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr9:123632816G>T	BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.269-1C>A	9.37:g.123632816G>T						PHF19_ENST00000312189.6_Splice_Site_p.A90_splice	p.A90_splice	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN			4	521	-			90					Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Splice_Site	SNP	ENST00000373896.3	37	c.268_splice	CCDS35116.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953449	0.73902	.	.	ENSG00000119403	ENST00000544082;ENST00000373896;ENST00000436309;ENST00000312189;ENST00000456291	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.04	5.04	0.67666	Zinc finger, FYVE/PHD-type (1);Tudor domain (1);	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.996;0.998;0.96	T	0.60627	-0.7226	10	0.62326	D	0.03	.	17.3555	0.87334	0.0:0.0:1.0:0.0	.	90;90;90	B0QZ72;Q5T6S3-2;Q5T6S3	.;.;PHF19_HUMAN	D	90	ENSP00000363003:A90D;ENSP00000408479:A90D;ENSP00000310372:A90D;ENSP00000397935:A90D	ENSP00000310372:A90D	A	-	2	0	PHF19	122672637	1.000000	0.71417	0.998000	0.56505	0.616000	0.37450	9.122000	0.94380	2.328000	0.79073	0.313000	0.20887	GCC		0.567	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308	Missense_Mutation	20	109	1	0	0.000958276	1	0.000982847	20	109				
GLI3	2737	broad.mit.edu	37	7	42005626	42005626	+	Silent	SNP	G	G	A	rs371617969		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr7:42005626G>A	ENST00000395925.3	-	15	3129	c.3045C>T	c.(3043-3045)ggC>ggT	p.G1015G	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1015					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCAGGGCCAGGCCCTCGGAGC	0.731									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3043-3045)ggC>ggT		GLI family zinc finger 3							8.0	10.0	9.0					7																	42005626		2157	4230	6387	SO:0001819	synonymous_variant	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005626G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3045C>T	7.37:g.42005626G>A						GLI3_ENST00000479210.1_5'UTR	p.G1015G	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	3129	-			1015					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.3045C>T	CCDS5465.1																																																																																				0.731	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		10	32	0	0	0	1	0	10	32				
NSD1	64324	broad.mit.edu	37	5	176638614	176638614	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr5:176638614C>T	ENST00000439151.2	+	5	3259	c.3214C>T	c.(3214-3216)Cga>Tga	p.R1072*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.R969*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R803*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R803*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1072					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCAGGGAGACCGAGAACGTGG	0.468			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	GRCh37	CM031301	NSD1	M		c.(3214-3216)Cga>Tga		nuclear receptor binding SET domain protein 1							118.0	128.0	125.0					5																	176638614		2203	4300	6503	SO:0001587	stop_gained	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176638614C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3214C>T	5.37:g.176638614C>T	ENSP00000395929:p.Arg1072*	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Nonsense_Mutation_p.R803*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R969*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R803*	p.R1072*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	3259	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1072					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.3214C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	37	6.456845	0.97581	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	4.24	0.553	0.17235	.	0.504521	0.15980	N	0.235340	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5502	0.00661	0.439:0.1918:0.2015:0.1677	.	.	.	.	X	803;1072;803;969	.	.	R	+	1	2	NSD1	176571220	0.864000	0.29904	0.146000	0.22360	0.002000	0.02628	1.191000	0.32138	0.011000	0.14865	-1.114000	0.02060	CGA		0.468	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		28	141	0	0	0	1	0	28	141				
CATSPERD	257062	broad.mit.edu	37	19	5744474	5744474	+	Missense_Mutation	SNP	T	T	C	rs371175663		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:5744474T>C	ENST00000381624.3	+	8	671	c.610T>C	c.(610-612)Ttt>Ctt	p.F204L	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	204					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											AATCTTCCACTTTTTTTCTTT	0.413																																						ENST00000381624.3																			0											c.(610-612)Ttt>Ctt		catsper channel auxiliary subunit delta							208.0	182.0	190.0					19																	5744474		1833	4094	5927	SO:0001583	missense	257062					integral to membrane		g.chr19:5744474T>C	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.610T>C	19.37:g.5744474T>C	ENSP00000371037:p.Phe204Leu					CATSPERD_ENST00000381614.2_5'UTR	p.F204L	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			8	671	+			204					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.610T>C	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	T	7.929	0.740207	0.15642	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.14022	2.54	2.61	1.58	0.23477	.	0.247235	0.20261	U	0.095867	T	0.06050	0.0157	N	0.17474	0.49	0.19575	N	0.999961	B	0.11235	0.004	B	0.12156	0.007	T	0.41360	-0.9513	10	0.10377	T	0.69	.	4.4402	0.11570	0.0:0.1596:0.0:0.8404	.	204	Q86XM0	TM146_HUMAN	L	130;204	ENSP00000371037:F204L	ENSP00000371037:F204L	F	+	1	0	TMEM146	5695474	0.000000	0.05858	0.024000	0.17045	0.011000	0.07611	-0.286000	0.08399	0.436000	0.26393	0.260000	0.18958	TTT		0.413	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		18	95	0	0	0	1	0	18	95				
SAMD9L	219285	broad.mit.edu	37	7	92764237	92764237	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr7:92764237T>A	ENST00000318238.4	-	5	2264	c.1048A>T	c.(1048-1050)Agg>Tgg	p.R350W	SAMD9L_ENST00000437805.1_Missense_Mutation_p.R350W|SAMD9L_ENST00000411955.1_Missense_Mutation_p.R350W	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	350					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGGATATCCCTAGAGCTAGCC	0.348																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(1048-1050)Agg>Tgg		sterile alpha motif domain containing 9-like							123.0	132.0	129.0					7																	92764237		2203	4300	6503	SO:0001583	missense	219285							g.chr7:92764237T>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1048A>T	7.37:g.92764237T>A	ENSP00000326247:p.Arg350Trp					SAMD9L_ENST00000437805.1_Missense_Mutation_p.R350W|SAMD9L_ENST00000411955.1_Missense_Mutation_p.R350W	p.R350W	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	2264	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		350					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1048A>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.192505	0.58017	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.16743	2.32;2.32;2.32	4.74	2.29	0.28610	.	0.315642	0.27469	N	0.019232	T	0.18551	0.0445	L	0.29908	0.895	0.25459	N	0.987931	P	0.50156	0.932	P	0.53185	0.72	T	0.04579	-1.0941	10	0.87932	D	0	-0.0166	7.2751	0.26279	0.0:0.0783:0.1456:0.7761	.	350	Q8IVG5	SAM9L_HUMAN	W	350	ENSP00000326247:R350W;ENSP00000405760:R350W;ENSP00000408796:R350W	ENSP00000326247:R350W	R	-	1	2	SAMD9L	92602173	0.113000	0.22115	0.748000	0.31131	0.737000	0.42083	2.368000	0.44222	0.291000	0.22468	0.377000	0.23210	AGG		0.348	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		55	101	0	0	0	1	0	55	101				
GPAT2	150763	broad.mit.edu	37	2	96688757	96688757	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:96688757C>A	ENST00000434632.1	-	21	2623	c.2164G>T	c.(2164-2166)Gag>Tag	p.E722*	GPAT2_ENST00000359548.4_Nonsense_Mutation_p.E722*|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000377137.3_Missense_Mutation_p.Q637H|GPAT2_ENST00000453542.1_Nonsense_Mutation_p.E651*			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	722					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						AACAGCTGCTCTGTGTAGCCC	0.597																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(2164-2166)Gag>Tag		glycerol-3-phosphate acyltransferase 2, mitochondrial							47.0	51.0	49.0					2																	96688757		2030	4187	6217	SO:0001587	stop_gained	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96688757C>A	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.2164G>T	2.37:g.96688757C>A	ENSP00000389395:p.Glu722*					GPAT2_ENST00000359548.4_Nonsense_Mutation_p.E722*|GPAT2_ENST00000377137.3_Missense_Mutation_p.Q637H|GPAT2_ENST00000453542.1_Nonsense_Mutation_p.E651*	p.E722*			Q6NUI2	GPAT2_HUMAN			21	2623	-			722					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Nonsense_Mutation	SNP	ENST00000434632.1	37	c.2164G>T	CCDS42714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	29.3|29.3	4.997887|4.997887	0.93227|0.93227	.|.	.|.	ENSG00000186281|ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542|ENST00000377137	.|T	.|0.77229	.|-1.08	5.44|5.44	2.56|2.56	0.30785|0.30785	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62134	.|0.2403	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	.|T	.|0.51116	.|-0.8746	.|8	0.28530|0.45353	T|T	0.3|0.12	-33.055|-33.055	3.2357|3.2357	0.06763|0.06763	0.1659:0.5551:0.1819:0.0972|0.1659:0.5551:0.1819:0.0972	.|.	.|637	.|Q6NUI2-3	.|.	X|H	722;722;651|637	.|ENSP00000366341:Q637H	ENSP00000352547:E722X|ENSP00000366341:Q637H	E|Q	-|-	1|3	0|2	GPAT2|GPAT2	96052484|96052484	0.003000|0.003000	0.15002|0.15002	0.849000|0.849000	0.33467|0.33467	0.333000|0.333000	0.28666|0.28666	0.429000|0.429000	0.21412|0.21412	1.316000|1.316000	0.45131|0.45131	-0.156000|-0.156000	0.13503|0.13503	GAG|CAG		0.597	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		17	88	1	0	5.3912e-06	1	5.82833e-06	17	88				
PLCG2	5336	broad.mit.edu	37	16	81973600	81973600	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr16:81973600A>T	ENST00000359376.3	+	30	3631	c.3417A>T	c.(3415-3417)gaA>gaT	p.E1139D		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1139	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTTATGAAGAAGATATGTTCA	0.428																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(3415-3417)gaA>gaT		phospholipase C, gamma 2 (phosphatidylinositol-specific)							156.0	147.0	150.0					16																	81973600		1881	4126	6007	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81973600A>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3417A>T	16.37:g.81973600A>T	ENSP00000352336:p.Glu1139Asp						p.E1139D	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			30	3631	+			1139			C2.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.3417A>T	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.352419	0.82132	.	.	ENSG00000197943	ENST00000359376	T	0.69435	-0.4	5.75	3.2	0.36748	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.76371	0.3978	M	0.64260	1.97	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.75975	-0.3128	10	0.54805	T	0.06	.	9.6749	0.40034	0.79:0.0:0.21:0.0	.	1139	P16885	PLCG2_HUMAN	D	1139	ENSP00000352336:E1139D	ENSP00000352336:E1139D	E	+	3	2	PLCG2	80531101	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.337000	0.33862	1.021000	0.39600	0.533000	0.62120	GAA		0.428	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			31	106	0	0	0	1	0	31	106				
FADS2	9415	broad.mit.edu	37	11	61605285	61605285	+	Silent	SNP	C	C	T	rs377238578		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr11:61605285C>T	ENST00000278840.4	+	2	873	c.243C>T	c.(241-243)ttC>ttT	p.F81F	FADS2_ENST00000521849.1_Silent_p.F81F|FADS2_ENST00000522056.1_Silent_p.F50F|FADS2_ENST00000257261.6_Silent_p.F59F	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	81	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	ACCTGGAATTCGTGGGCAAGT	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18919	0.0		0.0	False		,,,				2504	0.0					ENST00000278840.4																			0				breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(241-243)ttC>ttT		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)	C		1,4403	2.1+/-5.4	0,1,2201	63.0	46.0	52.0		243	-8.2	0.0	11		52	0,8598		0,0,4299	no	coding-synonymous	FADS2	NM_004265.2		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		81/445	61605285	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61605285C>T	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.243C>T	11.37:g.61605285C>T						FADS2_ENST00000521849.1_Silent_p.F81F|FADS2_ENST00000257261.6_Silent_p.F59F|FADS2_ENST00000522056.1_Silent_p.F50F	p.F81F	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN			2	873	+			81			Cytochrome b5 heme-binding.		A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Silent	SNP	ENST00000278840.4	37	c.243C>T	CCDS8012.1																																																																																				0.597	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		9	29	0	0	0	1	0	9	29				
ARL14	80117	broad.mit.edu	37	3	160395525	160395525	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:160395525C>G	ENST00000320767.2	+	1	578	c.391C>G	c.(391-393)Ctg>Gtg	p.L131V		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	131					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	GTP binding (GO:0005525)			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			GCCTGGAGCTCTGACTGCTGA	0.473																																						ENST00000320767.2																			0				lung(6)	6						c.(391-393)Ctg>Gtg		ADP-ribosylation factor-like 14							58.0	54.0	55.0					3																	160395525		2203	4300	6503	SO:0001583	missense	80117				small GTPase mediated signal transduction	intracellular	GTP binding	g.chr3:160395525C>G	AK026248	CCDS3192.1	3q25.33	2014-05-09	2005-11-03	2005-11-03	ENSG00000179674	ENSG00000179674		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22974	protein-coding gene	gene with protein product		614439	"""ADP-ribosylation factor 7"""	ARF7		15367757	Standard	NM_025047		Approved	FLJ22595	uc003fdq.3	Q8N4G2	OTTHUMG00000159031	ENST00000320767.2:c.391C>G	3.37:g.160395525C>G	ENSP00000323847:p.Leu131Val						p.L131V	NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)		1	578	+			131					Q9H655	Missense_Mutation	SNP	ENST00000320767.2	37	c.391C>G	CCDS3192.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545623	0.27652	.	.	ENSG00000179674	ENST00000320767	T	0.64260	-0.09	5.75	2.98	0.34508	Small GTP-binding protein domain (1);	0.446121	0.22196	N	0.063314	T	0.54663	0.1872	L	0.42008	1.315	0.31410	N	0.675664	B	0.19200	0.034	B	0.27076	0.076	T	0.60845	-0.7182	10	0.87932	D	0	-5.0279	10.8609	0.46825	0.0:0.731:0.0:0.269	.	131	Q8N4G2	ARL14_HUMAN	V	131	ENSP00000323847:L131V	ENSP00000323847:L131V	L	+	1	2	ARL14	161878219	0.917000	0.31117	0.796000	0.32109	0.667000	0.39255	0.555000	0.23422	0.780000	0.33566	0.563000	0.77884	CTG		0.473	ARL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352958.1	NM_025047		20	86	0	0	0	1	0	20	86				
TOPORS	10210	broad.mit.edu	37	9	32542374	32542374	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:32542374C>T	ENST00000360538.2	-	3	2265	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K	TOPORS_ENST00000379858.1_Missense_Mutation_p.E652K	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	717	Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TAAGATGATTCGTACCCATCC	0.373																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2149-2151)Gaa>Aaa		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							196.0	206.0	203.0					9																	32542374		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32542374C>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2149G>A	9.37:g.32542374C>T	ENSP00000353735:p.Glu717Lys					TOPORS_ENST00000379858.1_Missense_Mutation_p.E652K	p.E717K	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2265	-			717			Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.2149G>A	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298429	0.60195	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.17213	2.29;2.31	6.16	6.16	0.99307	.	0.000000	0.52532	D	0.000079	T	0.12902	0.0313	N	0.24115	0.695	0.33641	D	0.607276	P	0.52577	0.954	B	0.37550	0.253	T	0.07849	-1.0751	10	0.27785	T	0.31	-36.5378	19.6313	0.95704	0.0:1.0:0.0:0.0	.	717	Q9NS56	TOPRS_HUMAN	K	717;652	ENSP00000353735:E717K;ENSP00000369187:E652K	ENSP00000353735:E717K	E	-	1	0	TOPORS	32532374	1.000000	0.71417	0.953000	0.39169	0.823000	0.46562	4.495000	0.60353	2.937000	0.99478	0.650000	0.86243	GAA		0.373	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		31	436	0	0	0	1	0	31	436				
CATSPERB	79820	broad.mit.edu	37	14	92136294	92136294	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr14:92136294G>T	ENST00000256343.3	-	14	1307	c.1151C>A	c.(1150-1152)tCt>tAt	p.S384Y		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	384					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GGTGCTCACAGAGGCAATGGC	0.363																																						ENST00000256343.3																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(1150-1152)tCt>tAt		catsper channel auxiliary subunit beta							114.0	120.0	118.0					14																	92136294		2203	4300	6503	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92136294G>T	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1151C>A	14.37:g.92136294G>T	ENSP00000256343:p.Ser384Tyr						p.S384Y	NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN			14	1307	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	384					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.1151C>A	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848584	0.51164	.	.	ENSG00000133962	ENST00000256343	T	0.55588	0.51	5.37	4.48	0.54585	.	0.520922	0.17965	N	0.156057	T	0.61362	0.2341	L	0.50333	1.59	0.18873	N	0.999982	D	0.64830	0.994	P	0.60682	0.878	T	0.53387	-0.8446	10	0.66056	D	0.02	-13.4631	9.6139	0.39679	0.0956:0.0:0.9044:0.0	.	384	Q9H7T0	CTSRB_HUMAN	Y	384	ENSP00000256343:S384Y	ENSP00000256343:S384Y	S	-	2	0	CATSPERB	91206047	0.089000	0.21612	0.138000	0.22173	0.021000	0.10359	1.700000	0.37815	1.268000	0.44264	0.462000	0.41574	TCT		0.363	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		18	108	1	0	4.96729e-08	1	5.48115e-08	18	108				
EHD2	30846	broad.mit.edu	37	19	48244517	48244517	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:48244517G>T	ENST00000263277.3	+	6	1711	c.1460G>T	c.(1459-1461)gGg>gTg	p.G487V	EHD2_ENST00000538399.1_Missense_Mutation_p.G351V|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	487	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TCAGTGCTGGGGCGCATCTGG	0.637																																						ENST00000263277.3																			0				endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19						c.(1459-1461)gGg>gTg		EH-domain containing 2							65.0	52.0	56.0					19																	48244517		2203	4300	6503	SO:0001583	missense	30846				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding	g.chr19:48244517G>T	AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1460G>T	19.37:g.48244517G>T	ENSP00000263277:p.Gly487Val					EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Missense_Mutation_p.G351V	p.G487V	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)	6	1711	+		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	487			EF-hand.|EH.		B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	ENST00000263277.3	37	c.1460G>T	CCDS12704.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949534	0.73787	.	.	ENSG00000024422	ENST00000263277;ENST00000540364;ENST00000538399;ENST00000540884	T;T	0.31247	1.5;1.5	4.03	4.03	0.46877	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.64670	0.2619	H	0.94264	3.515	0.80722	D	1	D	0.63880	0.993	D	0.71870	0.975	T	0.76269	-0.3021	10	0.72032	D	0.01	-35.0558	14.0469	0.64710	0.0:0.0:1.0:0.0	.	487	Q9NZN4	EHD2_HUMAN	V	487;477;351;170	ENSP00000263277:G487V;ENSP00000439036:G351V	ENSP00000263277:G487V	G	+	2	0	EHD2	52936329	1.000000	0.71417	0.997000	0.53966	0.853000	0.48598	7.684000	0.84104	1.966000	0.57179	0.561000	0.74099	GGG		0.637	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			38	53	1	0	8.69298e-16	1	1.00788e-15	38	53				
FAM179A	165186	broad.mit.edu	37	2	29245049	29245049	+	Silent	SNP	G	G	A	rs527747733		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:29245049G>A	ENST00000379558.4	+	11	1737	c.1386G>A	c.(1384-1386)acG>acA	p.T462T	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Silent_p.T407T	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	462										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CGGTGCTCACGTTGGGGTCTC	0.572													A|||	1	0.000199681	0.0	0.0	5008	,	,		21710	0.0		0.001	False		,,,				2504	0.0					ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1384-1386)acG>acA		family with sequence similarity 179, member A							128.0	128.0	128.0					2																	29245049		2023	4185	6208	SO:0001819	synonymous_variant	165186						binding	g.chr2:29245049G>A	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1386G>A	2.37:g.29245049G>A						FAM179A_ENST00000403861.2_Silent_p.T407T|FAM179A_ENST00000465300.1_3'UTR	p.T462T	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			11	1737	+			462					Q6ZUF5	Silent	SNP	ENST00000379558.4	37	c.1386G>A	CCDS1769.2																																																																																				0.572	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		70	119	0	0	0	1	0	70	119				
DGCR8	54487	broad.mit.edu	37	22	20079045	20079045	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr22:20079045G>A	ENST00000351989.3	+	6	1823	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	DGCR8_ENST00000383024.2_Missense_Mutation_p.R465Q|DGCR8_ENST00000407755.1_Missense_Mutation_p.R465Q	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	465	Necessary for heme-binding and pri-miRNA processing.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GCTGAGCGGCGGCAATTCAAT	0.493																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1393-1395)cGg>cAg		DGCR8 microprocessor complex subunit							155.0	174.0	168.0					22																	20079045		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20079045G>A	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1394G>A	22.37:g.20079045G>A	ENSP00000263209:p.Arg465Gln					DGCR8_ENST00000383024.2_Missense_Mutation_p.R465Q|DGCR8_ENST00000407755.1_Missense_Mutation_p.R465Q	p.R465Q	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			6	1823	+	Colorectal(54;0.0993)		465			Necessary for heme-binding and pri-miRNA processing.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.1394G>A	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577028	0.65878	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.46451	0.87;0.89;0.89	4.62	2.42	0.29668	.	0.000000	0.85682	D	0.000000	T	0.31888	0.0811	M	0.69358	2.11	0.80722	D	1	B;P	0.44627	0.086;0.839	B;B	0.29598	0.008;0.104	T	0.32561	-0.9902	10	0.59425	D	0.04	-5.9937	8.9831	0.35977	0.0795:0.0:0.7741:0.1464	.	465;465	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	Q	465	ENSP00000263209:R465Q;ENSP00000372488:R465Q;ENSP00000384726:R465Q	ENSP00000263209:R465Q	R	+	2	0	DGCR8	18459045	1.000000	0.71417	0.987000	0.45799	0.764000	0.43329	9.190000	0.94934	1.158000	0.42547	0.591000	0.81541	CGG		0.493	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			6	491	0	0	0	1	0	6	491				
TMEM200A	114801	broad.mit.edu	37	6	130762378	130762378	+	Missense_Mutation	SNP	G	G	C	rs201541919		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:130762378G>C	ENST00000296978.3	+	3	1682	c.811G>C	c.(811-813)Ggc>Cgc	p.G271R	TMEM200A_ENST00000392429.1_Missense_Mutation_p.G271R|TMEM200A_ENST00000545622.1_Missense_Mutation_p.G271R	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	271						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TAAGACCAGCGGCTCTAAGAA	0.453																																						ENST00000392429.1																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(811-813)Ggc>Cgc		transmembrane protein 200A							120.0	119.0	120.0					6																	130762378		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130762378G>C	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.811G>C	6.37:g.130762378G>C	ENSP00000296978:p.Gly271Arg					TMEM200A_ENST00000296978.3_Missense_Mutation_p.G271R|TMEM200A_ENST00000545622.1_Missense_Mutation_p.G271R	p.G271R	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	2	3189	+			271					Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.811G>C	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	g	2.800	-0.249326	0.05867	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	-0.781	0.10965	.	0.270103	0.41605	D	0.000851	T	0.15825	0.0381	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41805	-0.9488	9	0.14252	T	0.57	.	12.3025	0.54882	0.5575:0.0:0.4425:0.0	.	271	Q86VY9	T200A_HUMAN	R	271	.	ENSP00000296978:G271R	G	+	1	0	TMEM200A	130804071	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.179000	0.16840	-0.195000	0.10382	-1.616000	0.00795	GGC		0.453	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		24	85	0	0	0	1	0	24	85				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			7	168	0	0	0	1	0	7	168				
MICALL1	85377	broad.mit.edu	37	22	38329111	38329111	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr22:38329111A>G	ENST00000215957.6	+	13	2426	c.2300A>G	c.(2299-2301)aAt>aGt	p.N767S	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	767	Necessary and sufficient to associate with tubular recycling endosome membranes, mediate phosphatidic acid- binding and membrane tubulation.|RAB-binding domain (RBD); mediates the interaction with RAB13 and RAB35 and intramolecular interaction with the CH domain.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TGCCTCCTCAATAAGCCAGGT	0.597																																						ENST00000215957.6																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(2299-2301)aAt>aGt		MICAL-like 1							43.0	44.0	44.0					22																	38329111		2203	4300	6503	SO:0001583	missense	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38329111A>G	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.2300A>G	22.37:g.38329111A>G	ENSP00000215957:p.Asn767Ser					MICALL1_ENST00000402631.1_3'UTR	p.N767S	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN			13	2426	+	Melanoma(58;0.045)		767					Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	c.2300A>G	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.827019	0.71143	.	.	ENSG00000100139	ENST00000215957;ENST00000402631;ENST00000424008	T;T;T	0.38722	1.12;1.12;1.12	5.54	5.54	0.83059	Domain of unknown function DUF3585 (1);	0.000000	0.64402	D	0.000002	T	0.56863	0.2014	L	0.43554	1.36	0.58432	D	0.999992	D	0.76494	0.999	D	0.76575	0.988	T	0.55927	-0.8063	10	0.45353	T	0.12	.	15.6788	0.77352	1.0:0.0:0.0:0.0	.	767	Q8N3F8	MILK1_HUMAN	S	767;194;81	ENSP00000215957:N767S;ENSP00000384608:N194S;ENSP00000416766:N81S	ENSP00000215957:N767S	N	+	2	0	MICALL1	36659057	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.838000	0.92115	2.101000	0.63845	0.523000	0.50628	AAT		0.597	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		34	75	0	0	0	1	0	34	75				
C5	727	broad.mit.edu	37	9	123725172	123725172	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:123725172G>A	ENST00000223642.1	-	35	4426	c.4397C>T	c.(4396-4398)tCg>tTg	p.S1466L		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1466					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	GGAGCTTACCGAATTCAGTTG	0.358																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.e35+1		complement component 5	Eculizumab(DB01257)						184.0	184.0	184.0					9																	123725172		2203	4300	6503	SO:0001630	splice_region_variant	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123725172G>A	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4398+1C>T	9.37:g.123725172G>A							p.S1466_splice	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	35	4426	-			1466					Q14CJ0|Q27I61	Splice_Site	SNP	ENST00000223642.1	37	c.4398_splice	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077278	0.76415	.	.	ENSG00000106804	ENST00000223642	T	0.24350	1.86	5.46	5.46	0.80206	Alpha-macroglobulin, receptor-binding (3);	0.186091	0.47852	D	0.000205	T	0.50701	0.1631	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.52373	-0.8584	10	0.72032	D	0.01	.	12.8456	0.57827	0.0:0.164:0.836:0.0	.	1466	P01031	CO5_HUMAN	L	1466	ENSP00000223642:S1466L	ENSP00000223642:S1466L	S	-	2	0	C5	122764993	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.428000	0.52792	2.728000	0.93425	0.655000	0.94253	TCG		0.358	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735	Missense_Mutation	4	190	0	0	0	1	0	4	190				
GNAS	2778	broad.mit.edu	37	20	57429103	57429103	+	Missense_Mutation	SNP	G	G	T	rs545066346		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr20:57429103G>T	ENST00000306120.3	+	1	593	c.593G>T	c.(592-594)cGa>cTa	p.R198L	GNAS_ENST00000371099.2_Silent_p.S261S|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Silent_p.S261S|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Silent_p.S261S|GNAS_ENST00000313949.7_Intron			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TCGCGGCCTCGAGTGCGGTCC	0.662			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000306120.3				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(592-594)cGa>cTa		GNAS complex locus																																				SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57429103G>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000306120.3:c.593G>T	20.37:g.57429103G>T	ENSP00000302237:p.Arg198Leu	TSP Lung(22;0.16)				GNAS_ENST00000371098.2_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371099.2_Silent_p.S261S|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371100.4_Silent_p.S261S|GNAS_ENST00000371102.4_Silent_p.S261S|GNAS_ENST00000464624.2_3'UTR	p.R198L			P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	593	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000306120.3	37	c.593G>T		.	.	.	.	.	.	.	.	.	.	G	9.699	1.154004	0.21371	.	.	ENSG00000087460	ENST00000306120	.	.	.	3.58	3.58	0.41010	.	.	.	.	.	T	0.61073	0.2318	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58831	-0.7567	5	0.36615	T	0.2	.	10.9632	0.47397	0.0:0.0:1.0:0.0	.	.	.	.	L	198	.	ENSP00000302237:R198L	R	+	2	0	GNAS	56862498	0.998000	0.40836	0.933000	0.37362	0.090000	0.18270	2.385000	0.44371	2.294000	0.77228	0.561000	0.74099	CGA		0.662	GNAS-050	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000267987.1	NM_000516		6	52	1	0	5.9392e-07	1	6.50871e-07	6	52				
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C	rs200387712		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr7:100350361T>C	ENST00000348028.3	+	0	2798				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							331.0	375.0	361.0					7																	100350361		1881	4106	5987			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350361T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350361T>C						ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2781	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	5.922	0.354238	0.11182	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.61392	0.11;0.11;0.11	3.16	1.24	0.21308	.	1.200500	0.06499	N	0.736017	T	0.29028	0.0721	N	0.01874	-0.695	0.20403	N	0.999901	B;B	0.14805	0.011;0.01	B;B	0.16722	0.016;0.007	T	0.18777	-1.0326	10	0.30854	T	0.27	.	4.9933	0.14226	0.0:0.6075:0.1758:0.2167	.	878;878	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	878	ENSP00000445943:L878P;ENSP00000445091:L878P;ENSP00000444427:L878P	ENSP00000423579:L878P	L	+	2	0	ZAN	100188297	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.610000	0.05629	0.035000	0.15519	-0.124000	0.14976	CTC		0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		4	214	0	0	0	1	0	4	214				
TARSL2	123283	broad.mit.edu	37	15	102261498	102261498	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr15:102261498C>T	ENST00000335968.3	-	3	613	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	133					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCAATCTTTCTTTTATGAAA	0.353																																						ENST00000335968.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(397-399)Gaa>Aaa		threonyl-tRNA synthetase-like 2							87.0	82.0	83.0					15																	102261498		2203	4300	6503	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102261498C>T	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.397G>A	15.37:g.102261498C>T	ENSP00000338093:p.Glu133Lys						p.E133K	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	613	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		133					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.397G>A	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	.	16.88	3.244342	0.59103	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	4.61	4.61	0.57282	.	0.290468	0.36409	N	0.002618	T	0.60117	0.2244	L	0.59436	1.845	0.54753	D	0.999986	B	0.19935	0.04	B	0.20955	0.032	T	0.61845	-0.6979	9	0.59425	D	0.04	-22.511	15.2963	0.73910	0.0:1.0:0.0:0.0	.	133	A2RTX5	SYTC2_HUMAN	K	133	.	ENSP00000329291:E133K	E	-	1	0	TARSL2	100079021	1.000000	0.71417	0.988000	0.46212	0.967000	0.64934	6.533000	0.73829	2.284000	0.76573	0.557000	0.71058	GAA		0.353	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		15	33	0	0	0	1	0	15	33				
NBEAL2	23218	broad.mit.edu	37	3	47041666	47041666	+	Silent	SNP	C	C	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:47041666C>A	ENST00000450053.3	+	27	4256	c.4077C>A	c.(4075-4077)ggC>ggA	p.G1359G	NBEAL2_ENST00000383740.2_De_novo_Start_InFrame|NBEAL2_ENST00000292309.5_Intron	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1359					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TTGACCTGGGCCTGGAACGGT	0.617																																						ENST00000383740.2																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51								neurobeachin-like 2							122.0	128.0	126.0					3																	47041666		2089	4216	6305	SO:0001819	synonymous_variant	23218						binding	g.chr3:47041666C>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4077C>A	3.37:g.47041666C>A						NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000450053.3_Silent_p.G1359G				Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	0	4256	+		Acute lymphoblastic leukemia(5;0.0534)						O60288|Q6P994|Q6UX91|Q8NAC9	Translation_Start_Site	SNP	ENST00000450053.3	37		CCDS46817.1																																																																																				0.617	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		55	111	1	0	1.74971e-23	1	2.07373e-23	55	111				
AVPR1A	552	broad.mit.edu	37	12	63541224	63541224	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:63541224T>A	ENST00000299178.2	-	2	1277	c.1172A>T	c.(1171-1173)aAt>aTt	p.N391I		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	391					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	TGGGCTTCGATTGTTAGAATA	0.408																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(1171-1173)aAt>aTt		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						238.0	223.0	228.0					12																	63541224		2203	4300	6503	SO:0001583	missense	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63541224T>A	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.1172A>T	12.37:g.63541224T>A	ENSP00000299178:p.Asn391Ile						p.N391I	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	2	1277	-			391						Missense_Mutation	SNP	ENST00000299178.2	37	c.1172A>T	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	T	8.995	0.978652	0.18812	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.71222	-0.55;0.21	6.06	2.35	0.29111	Domain of unknown function DUF1856 (1);	0.193176	0.53938	D	0.000051	T	0.68522	0.3010	M	0.75264	2.295	0.45403	D	0.998388	B	0.32526	0.374	B	0.38655	0.278	T	0.62148	-0.6915	9	.	.	.	-22.9929	7.0728	0.25187	0.0:0.1322:0.1236:0.7442	.	391	P37288	V1AR_HUMAN	I	172;391	ENSP00000449822:N172I;ENSP00000299178:N391I	.	N	-	2	0	AVPR1A	61827491	1.000000	0.71417	0.996000	0.52242	0.085000	0.17905	1.061000	0.30542	0.524000	0.28502	0.533000	0.62120	AAT		0.408	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			61	100	0	0	0	1	0	61	100				
DNAH8	1769	broad.mit.edu	37	6	38838177	38838177	+	Splice_Site	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:38838177G>T	ENST00000359357.3	+	47	6432	c.6178G>T	c.(6178-6180)Gtt>Ttt	p.V2060F	DNAH8_ENST00000441566.1_Splice_Site_p.V2024F|DNAH8_ENST00000449981.2_Splice_Site_p.V2277F			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2060					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCCACCTTAGGTTGATGAAGA	0.403																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.e47-1		dynein, axonemal, heavy chain 8							107.0	105.0	106.0					6																	38838177		2203	4300	6503	SO:0001630	splice_region_variant	1769							g.chr6:38838177G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6178-1G>T	6.37:g.38838177G>T						DNAH8_ENST00000441566.1_Splice_Site_p.V2024_splice|DNAH8_ENST00000449981.2_Splice_Site_p.V2277_splice	p.V2060_splice							47	6432	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	SNP	ENST00000359357.3	37	c.6177_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.67|15.67	2.901971|2.901971	0.52227|0.52227	.|.	.|.	ENSG00000124721|ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566|ENST00000394393	T;T;T|.	0.19806|.	2.12;2.12;2.12|.	5.91|5.91	3.02|3.02	0.34903|0.34903	.|.	0.061193|.	0.64402|.	D|.	0.000006|.	T|T	0.76492|0.76492	0.3995|0.3995	H|H	0.95224|0.95224	3.64|3.64	0.80722|0.80722	D|D	1|1	D|.	0.58620|.	0.983|.	P|.	0.58820|.	0.846|.	T|T	0.80973|0.80973	-0.1143|-0.1143	9|5	.|.	.|.	.|.	.|.	9.6426|9.6426	0.39848|0.39848	0.3668:0.0:0.6332:0.0|0.3668:0.0:0.6332:0.0	.|.	2060|.	Q96JB1|.	DYH8_HUMAN|.	F|C	2265;2265;2060;2024|105	ENSP00000333363:V2265F;ENSP00000352312:V2060F;ENSP00000402294:V2024F|.	.|.	V|W	+|+	1|3	0|0	DNAH8|DNAH8	38946155|38946155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.313000|0.313000	0.28021|0.28021	1.286000|1.286000	0.33273|0.33273	0.759000|0.759000	0.33084|0.33084	-0.140000|-0.140000	0.14226|0.14226	GTT|TGG		0.403	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	Missense_Mutation	7	94	1	0	1.12685e-05	1	1.21004e-05	7	94				
ZSCAN1	284312	broad.mit.edu	37	19	58549368	58549368	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:58549368C>T	ENST00000282326.1	+	3	411	c.164C>T	c.(163-165)gCg>gTg	p.A55V	ZSCAN1_ENST00000391700.1_Missense_Mutation_p.A55V|ZSCAN1_ENST00000601162.1_Missense_Mutation_p.A55V	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	55	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCGCACCTCGCGCTGGGCCAG	0.706																																						ENST00000282326.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(163-165)gCg>gTg		zinc finger and SCAN domain containing 1							14.0	15.0	15.0					19																	58549368		2182	4283	6465	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58549368C>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.164C>T	19.37:g.58549368C>T	ENSP00000282326:p.Ala55Val					ZSCAN1_ENST00000391700.1_Missense_Mutation_p.A55V|ZSCAN1_ENST00000601162.1_Missense_Mutation_p.A55V	p.A55V	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	3	411	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	55			SCAN box.		Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.164C>T	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256109	0.59321	.	.	ENSG00000152467	ENST00000391700;ENST00000282326	T;T	0.06449	3.3;3.3	1.97	1.97	0.26223	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.20292	0.0488	M	0.84585	2.705	0.09310	N	1	D;D	0.76494	0.969;0.999	P;P	0.59012	0.85;0.848	T	0.03662	-1.1015	9	0.87932	D	0	.	7.326	0.26555	0.0:1.0:0.0:0.0	.	55;55	Q8NBB4;Q8NBB4-2	ZSCA1_HUMAN;.	V	55	ENSP00000375581:A55V;ENSP00000282326:A55V	ENSP00000282326:A55V	A	+	2	0	ZSCAN1	63241180	0.000000	0.05858	0.004000	0.12327	0.068000	0.16541	0.162000	0.16501	1.098000	0.41479	0.205000	0.17691	GCG		0.706	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		5	58	0	0	0	1	0	5	58				
PLCB1	23236	broad.mit.edu	37	20	8737794	8737794	+	Silent	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr20:8737794C>T	ENST00000338037.6	+	24	2652	c.2625C>T	c.(2623-2625)ccC>ccT	p.P875P	PLCB1_ENST00000378641.3_Silent_p.P875P|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Silent_p.P875P	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	875					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CCAAGCCACCCTCCCAGGCTC	0.547																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(2623-2625)ccC>ccT		phospholipase C, beta 1 (phosphoinositide-specific)							66.0	66.0	66.0					20																	8737794		2203	4300	6503	SO:0001819	synonymous_variant	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8737794C>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2625C>T	20.37:g.8737794C>T						PLCB1_ENST00000378637.2_Silent_p.P875P|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Silent_p.P875P	p.P875P	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			24	3100	+			875					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	c.2625C>T	CCDS13102.1																																																																																				0.547	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			24	56	0	0	0	1	0	24	56				
PRDM13	59336	broad.mit.edu	37	6	100057104	100057104	+	Silent	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:100057104G>A	ENST00000369215.4	+	3	623	c.318G>A	c.(316-318)gaG>gaA	p.E106E		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	106	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CAGGGGAGGAGCTGACAGTGT	0.522																																						ENST00000369214.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(346-348)gaG>gaA		PR domain containing 13							66.0	73.0	71.0					6																	100057104		2120	4243	6363	SO:0001819	synonymous_variant	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100057104G>A	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.318G>A	6.37:g.100057104G>A						PRDM13_ENST00000369215.4_Silent_p.E106E	p.E116E	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	3	609	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	106			SET.		Q5TGC1|Q5TGC2	Silent	SNP	ENST00000369215.4	37	c.348G>A	CCDS43487.1																																																																																				0.522	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			15	39	0	0	0	1	0	15	39				
SP1	6667	broad.mit.edu	37	12	53776193	53776193	+	Silent	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:53776193C>T	ENST00000327443.4	+	3	560	c.462C>T	c.(460-462)aaC>aaT	p.N154N	SP1_ENST00000426431.2_Silent_p.N147N	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	154	Transactivation domain A (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CCGCTCCCAACTTACAGAACC	0.512																																						ENST00000426431.2																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(439-441)aaC>aaT		Sp1 transcription factor							50.0	57.0	55.0					12																	53776193		2203	4300	6503	SO:0001819	synonymous_variant	6667				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53776193C>T	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.462C>T	12.37:g.53776193C>T						SP1_ENST00000327443.4_Silent_p.N154N	p.N147N	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	3	501	+			154			Transactivation domain A (Gln-rich).		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Silent	SNP	ENST00000327443.4	37	c.441C>T	CCDS8857.1																																																																																				0.512	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			45	82	0	0	0	1	0	45	82				
MAGT1	84061	broad.mit.edu	37	X	77131009	77131009	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chrX:77131009C>T	ENST00000373336.3	-	2	217	c.188G>A	c.(187-189)cGc>cAc	p.R63H	MAGT1_ENST00000358075.6_Missense_Mutation_p.R95H			Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	63	Thioredoxin.				cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						TTTCACAAGGCGACGGAACTT	0.418																																						ENST00000358075.6																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(283-285)cGc>cAc		magnesium transporter 1							234.0	214.0	221.0					X																	77131009		2203	4296	6499	SO:0001583	missense	84061				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chrX:77131009C>T		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000373336.3:c.188G>A	X.37:g.77131009C>T	ENSP00000362433:p.Arg63His					MAGT1_ENST00000373336.3_Missense_Mutation_p.R63H	p.R95H	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN			2	370	-			63					B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	ENST00000373336.3	37	c.284G>A		.	.	.	.	.	.	.	.	.	.	C	18.10	3.547448	0.65311	.	.	ENSG00000102158	ENST00000358075;ENST00000373336	T;T	0.22945	1.93;1.93	5.69	5.69	0.88448	Thioredoxin-like fold (2);	0.000000	0.85682	U	0.000000	T	0.25121	0.0610	L	0.42245	1.32	0.80722	D	1	P;B	0.48998	0.918;0.039	B;B	0.38562	0.276;0.01	T	0.02121	-1.1210	10	0.42905	T	0.14	-4.5856	18.8512	0.92230	0.0:1.0:0.0:0.0	.	63;95	Q9H0U3;B4DH58	MAGT1_HUMAN;.	H	95;63	ENSP00000354649:R95H;ENSP00000362433:R63H	ENSP00000354649:R95H	R	-	2	0	MAGT1	77017665	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.403000	0.79983	2.398000	0.81561	0.600000	0.82982	CGC		0.418	MAGT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000057302.2	NM_032121		27	61	0	0	0	1	0	27	61				
PRUNE2	158471	broad.mit.edu	37	9	79465540	79465540	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:79465540T>C	ENST00000376718.3	-	3	306	c.183A>G	c.(181-183)atA>atG	p.I61M	PRUNE2_ENST00000428286.1_De_novo_Start_InFrame|PRUNE2_ENST00000376713.3_Missense_Mutation_p.I61M	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	61					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAGTTCTTGGTATGTTCAGCA	0.388																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16								prune homolog 2 (Drosophila)							132.0	137.0	135.0					9																	79465540		2203	4300	6503	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79465540T>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.183A>G	9.37:g.79465540T>C	ENSP00000365908:p.Ile61Met					PRUNE2_ENST00000376718.3_Missense_Mutation_p.I61M|PRUNE2_ENST00000376713.3_Missense_Mutation_p.I61M				Q8WUY3	PRUN2_HUMAN			0	306	-								B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Translation_Start_Site	SNP	ENST00000376718.3	37		CCDS47982.1	.	.	.	.	.	.	.	.	.	.	T	18.55	3.648530	0.67358	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T	0.61040	0.14	5.74	-0.246	0.13022	.	0.056283	0.64402	D	0.000003	T	0.64843	0.2635	M	0.69463	2.115	0.80722	D	1	D;P	0.76494	0.999;0.624	D;B	0.64595	0.927;0.256	T	0.59300	-0.7480	10	0.33141	T	0.24	.	7.6688	0.28447	0.2487:0.0:0.4537:0.2976	.	61;61	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	M	61;60;61	ENSP00000365908:I61M	ENSP00000365903:I61M	I	-	3	3	PRUNE2	78655360	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	0.588000	0.23924	-0.272000	0.09259	0.524000	0.50904	ATA		0.388	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		24	149	0	0	0	1	0	24	149				
OR3A4P	390756	broad.mit.edu	37	17	3213813	3213813	+	RNA	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:3213813C>T	ENST00000573491.1	-	0	359																											GGGAACTTGTCCCTGCCAGAT	0.547																																						ENST00000573491.1																			0																				154.0	138.0	143.0					17																	3213813		2203	4300	6503			390756							g.chr17:3213813C>T																													17.37:g.3213813C>T						OR3A4P_ENST00000323164.4_RNA								0	359	-									RNA	SNP	ENST00000573491.1	37																																																																																						0.547	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000438371.1			28	68	0	0	0	1	0	28	68				
HELQ	113510	broad.mit.edu	37	4	84370111	84370111	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr4:84370111C>T	ENST00000295488.3	-	3	1178	c.1016G>A	c.(1015-1017)tGg>tAg	p.W339*	HELQ_ENST00000510985.1_Nonsense_Mutation_p.W339*	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	339					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGTATGTTGCCATTCTGTGGA	0.328								Other identified genes with known or suspected DNA repair function																														ENST00000295488.3																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						c.(1015-1017)tGg>tAg	Other identified genes with known or suspected DNA repair function	helicase, POLQ-like							31.0	31.0	31.0					4																	84370111		2199	4299	6498	SO:0001587	stop_gained	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84370111C>T	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1016G>A	4.37:g.84370111C>T	ENSP00000295488:p.Trp339*					HELQ_ENST00000510985.1_Nonsense_Mutation_p.W339*	p.W339*	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN			3	1178	-			339					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Nonsense_Mutation	SNP	ENST00000295488.3	37	c.1016G>A	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	C	39	7.713723	0.98447	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2228	0.98330	0.0:1.0:0.0:0.0	.	.	.	.	X	339	.	ENSP00000295488:W339X	W	-	2	0	HELQ	84589135	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.124000	0.77185	2.789000	0.95967	0.655000	0.94253	TGG		0.328	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		7	17	0	0	0	1	0	7	17				
CLCN2	1181	broad.mit.edu	37	3	184079216	184079216	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:184079216C>T	ENST00000265593.4	-	1	223	c.52G>A	c.(52-54)Gag>Aag	p.E18K	POLR2H_ENST00000296223.3_5'Flank|CLCN2_ENST00000434054.2_Missense_Mutation_p.E18K|CLCN2_ENST00000457512.1_Missense_Mutation_p.E18K|POLR2H_ENST00000430783.1_5'Flank|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.E18K|POLR2H_ENST00000443489.1_5'Flank|POLR2H_ENST00000438240.1_5'Flank|POLR2H_ENST00000456318.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000429568.1_5'Flank|POLR2H_ENST00000452961.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	18					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AGGGTCTGCTCGTACTGCAGC	0.706																																						ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(52-54)Gag>Aag		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)						59.0	61.0	61.0					3																	184079216		2203	4300	6503	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184079216C>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.52G>A	3.37:g.184079216C>T	ENSP00000265593:p.Glu18Lys					EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.E18K|CLCN2_ENST00000434054.2_Missense_Mutation_p.E18K|CLCN2_ENST00000344937.7_Missense_Mutation_p.E18K	p.E18K	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	223	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		18					B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.52G>A	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	N	12.02	1.813011	0.32053	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06	3.81	3.81	0.43845	.	0.322570	0.24169	N	0.040918	T	0.75627	0.3875	L	0.29908	0.895	0.80722	D	1	B;B;B;B;B	0.24426	0.103;0.043;0.043;0.072;0.043	B;B;B;B;B	0.19666	0.011;0.017;0.017;0.026;0.017	T	0.71994	-0.4424	10	0.33141	T	0.24	-16.3532	11.4698	0.50261	0.0:1.0:0.0:0.0	.	18;18;18;18;18	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	K	18	ENSP00000265593:E18K;ENSP00000345056:E18K;ENSP00000400425:E18K;ENSP00000391928:E18K	ENSP00000265593:E18K	E	-	1	0	CLCN2	185561910	0.994000	0.37717	1.000000	0.80357	0.131000	0.20780	1.102000	0.31050	2.144000	0.66660	0.450000	0.29827	GAG		0.706	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			17	145	0	0	0	1	0	17	145				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	63	0	0	0	1	0	4	63				
MTMR7	9108	broad.mit.edu	37	8	17206461	17206461	+	Splice_Site	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr8:17206461C>T	ENST00000180173.5	-	5	632		c.e5+1		MTMR7_ENST00000521857.1_Splice_Site|MTMR7_ENST00000523571.1_Splice_Site	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7						inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)	p.?(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TCGAGACTTACGTGGTTATCT	0.443																																						ENST00000180173.5																			1	Unknown(1)	p.?(1)	endometrium(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32						c.e5+1		myotubularin related protein 7							119.0	116.0	117.0					8																	17206461		2203	4300	6503	SO:0001630	splice_region_variant	9108						protein tyrosine phosphatase activity	g.chr8:17206461C>T	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.597+1G>A	8.37:g.17206461C>T						MTMR7_ENST00000521857.1_Splice_Site|MTMR7_ENST00000523571.1_Splice_Site		NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN		Colorectal(111;0.112)	5	632	-								A1L4K9|B4DG87|Q68DX4	Splice_Site	SNP	ENST00000180173.5	37		CCDS34851.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383646	0.82792	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.719	0.96135	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MTMR7	17250832	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	7.364000	0.79526	2.828000	0.97474	0.655000	0.94253	.		0.443	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686	Intron	23	87	0	0	0	1	0	23	87				
SSUH2	51066	broad.mit.edu	37	3	8675467	8675467	+	Missense_Mutation	SNP	G	G	A	rs150785183	byFrequency	TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:8675467G>A	ENST00000317371.4	-	11	1383	c.158C>T	c.(157-159)aCg>aTg	p.T53M	SSUH2_ENST00000544814.1_Missense_Mutation_p.T75M|SSUH2_ENST00000415132.1_Missense_Mutation_p.T53M|SSUH2_ENST00000341795.3_Missense_Mutation_p.T53M			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	53						cytoplasm (GO:0005737)											CACCTCCTCCGTCATCGCAGG	0.657													G|||	5	0.000998403	0.0	0.0029	5008	,	,		14449	0.0		0.003	False		,,,				2504	0.0					ENST00000317371.4																			0											c.(157-159)aCg>aTg		ssu-2 homolog (C. elegans)		G	MET/THR	3,4403		0,3,2200	28.0	32.0	31.0		158	5.1	0.9	3	dbSNP_134	31	20,8574		0,20,4277	yes	missense	C3orf32	NM_015931.1	81	0,23,6477	AA,AG,GG		0.2327,0.0681,0.1769	probably-damaging	53/354	8675467	23,12977	2203	4297	6500	SO:0001583	missense	51066							g.chr3:8675467G>A	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.158C>T	3.37:g.8675467G>A	ENSP00000324551:p.Thr53Met					SSUH2_ENST00000415132.1_Missense_Mutation_p.T53M|SSUH2_ENST00000341795.3_Missense_Mutation_p.T53M|SSUH2_ENST00000544814.1_Missense_Mutation_p.T75M	p.T53M							11	1383	-								A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	ENST00000317371.4	37	c.158C>T	CCDS2568.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	G	15.69	2.908441	0.52333	6.81E-4	0.002327	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132;ENST00000544814;ENST00000427408	T;T;T;T;T	0.53206	0.69;0.69;0.67;0.72;0.63	5.14	5.14	0.70334	.	0.158538	0.56097	D	0.000036	T	0.69415	0.3108	M	0.80746	2.51	0.38842	D	0.956078	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.982	T	0.75789	-0.3194	10	0.87932	D	0	-26.9208	14.128	0.65235	0.0:0.0:1.0:0.0	.	75;53	F5H2S5;Q9Y2M2	.;CC032_HUMAN	M	53;53;53;75;75	ENSP00000339150:T53M;ENSP00000324551:T53M;ENSP00000410757:T53M;ENSP00000439378:T75M;ENSP00000401289:T75M	ENSP00000324551:T53M	T	-	2	0	C3orf32	8650467	1.000000	0.71417	0.943000	0.38184	0.026000	0.11368	6.229000	0.72294	2.407000	0.81776	0.484000	0.47621	ACG		0.657	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931		3	52	0	0	0	1	0	3	52				
CUL7	9820	broad.mit.edu	37	6	43011260	43011260	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:43011260C>T	ENST00000265348.3	-	17	3366	c.3281G>A	c.(3280-3282)cGc>cAc	p.R1094H	CUL7_ENST00000535468.1_Missense_Mutation_p.R1178H|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	1094					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.R1094L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGTGAGACGGCGCACCCGCGA	0.642																																						ENST00000535468.1																			1	Substitution - Missense(1)	p.R1094L(1)	lung(1)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(3532-3534)cGc>cAc		cullin 7							32.0	35.0	34.0					6																	43011260		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43011260C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.3281G>A	6.37:g.43011260C>T	ENSP00000265348:p.Arg1094His					CUL7_ENST00000265348.3_Missense_Mutation_p.R1094H	p.R1178H	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		17	3619	-			1094					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.3533G>A	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	35	5.443812	0.96187	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	D;D	0.85258	-1.92;-1.96	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.90992	0.7167	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.91453	0.5183	10	0.87932	D	0	-15.2007	19.4741	0.94979	0.0:1.0:0.0:0.0	.	1178;1094;1178;1094	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	H	1094;1178	ENSP00000265348:R1094H;ENSP00000438788:R1178H	ENSP00000265348:R1094H	R	-	2	0	CUL7	43119238	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.083000	0.76859	2.595000	0.87683	0.655000	0.94253	CGC		0.642	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		4	49	0	0	0	1	0	4	49				
SMARCE1	6605	broad.mit.edu	37	17	38787103	38787103	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:38787103C>T	ENST00000348513.6	-	10	1670	c.890G>A	c.(889-891)cGc>cAc	p.R297H	SMARCE1_ENST00000578044.1_Missense_Mutation_p.R227H|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000377808.4_Missense_Mutation_p.R262H|SMARCE1_ENST00000431889.2_Missense_Mutation_p.R279H|SMARCE1_ENST00000544009.1_Missense_Mutation_p.R227H|SMARCE1_ENST00000400122.3_Missense_Mutation_p.R227H|SMARCE1_ENST00000580419.1_Missense_Mutation_p.R262H	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	297					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)	p.R297H(1)		large_intestine(1)	1		Breast(137;0.000812)				CTGCCTTTTGCGGGCCTGTTC	0.507																																						ENST00000348513.6																			1	Substitution - Missense(1)	p.R297H(1)	large_intestine(1)	large_intestine(1)	1						c.(889-891)cGc>cAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1							122.0	106.0	111.0					17																	38787103		2203	4300	6503	SO:0001583	missense	6605				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	g.chr17:38787103C>T	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.890G>A	17.37:g.38787103C>T	ENSP00000323967:p.Arg297His					SMARCE1_ENST00000544009.1_Missense_Mutation_p.R227H|SMARCE1_ENST00000377808.4_Missense_Mutation_p.R262H|SMARCE1_ENST00000400122.3_Missense_Mutation_p.R227H|SMARCE1_ENST00000578044.1_Missense_Mutation_p.R227H|SMARCE1_ENST00000431889.2_Missense_Mutation_p.R279H|SMARCE1_ENST00000580419.1_Missense_Mutation_p.R262H|KRT222_ENST00000476049.1_3'UTR	p.R297H	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN			10	1670	-		Breast(137;0.000812)	297					B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Missense_Mutation	SNP	ENST00000348513.6	37	c.890G>A	CCDS11370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.53|17.53	3.412636|3.412636	0.62511|0.62511	.|.	.|.	ENSG00000073584|ENSG00000073584	ENST00000400122|ENST00000348513;ENST00000544009;ENST00000431889;ENST00000377808;ENST00000447024	.|T;T;T	.|0.20598	.|2.07;2.06;2.3	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.048290	.|0.85682	.|D	.|0.000000	T|T	0.44993|0.44993	0.1320|0.1320	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.76071	.|0.987;0.98;0.98	T|T	0.28332|0.28332	-1.0047|-1.0047	5|10	.|0.72032	.|D	.|0.01	.|.	19.7017|19.7017	0.96057|0.96057	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|262;262;297	.|C0IMW5;C0IMW4;Q969G3	.|.;.;SMCE1_HUMAN	T|H	123|297;227;279;262;91	.|ENSP00000323967:R297H;ENSP00000445370:R279H;ENSP00000367039:R262H	.|ENSP00000323967:R297H	A|R	-|-	1|2	0|0	SMARCE1|SMARCE1	36040629|36040629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.872000|0.872000	0.50106|0.50106	6.978000|6.978000	0.76147|0.76147	2.724000|2.724000	0.93272|0.93272	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.507	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079		4	181	0	0	0	1	0	4	181				
PMM2	5373	broad.mit.edu	37	16	8941585	8941585	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr16:8941585G>A	ENST00000268261.4	+	8	710	c.644G>A	c.(643-645)gGc>gAc	p.G215D	PMM2_ENST00000569958.1_Missense_Mutation_p.G124D|PMM2_ENST00000566983.1_Missense_Mutation_p.G188D|RP11-152P23.2_ENST00000567942.1_RNA|RP11-77H9.2_ENST00000565934.1_RNA|PMM2_ENST00000539622.1_Missense_Mutation_p.G132D|PMM2_ENST00000537352.1_Missense_Mutation_p.G90D	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	215					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	phosphomannomutase activity (GO:0004615)			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						TTCCAGGGTGGCAATGACCAT	0.542																																					Esophageal Squamous(154;1308 1842 2827 29799 42829)	ENST00000268261.4																			0				breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						c.(643-645)gGc>gAc		phosphomannomutase 2							90.0	76.0	81.0					16																	8941585		2197	4300	6497	SO:0001583	missense	5373				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity	g.chr16:8941585G>A	BC008310	CCDS10536.1	16p13	2012-09-06			ENSG00000140650	ENSG00000140650	5.3.1.8		9115	protein-coding gene	gene with protein product	"""phosphomannose isomerase 1"""	601785		CDG1		9140401	Standard	NM_000303		Approved	CDGS, CDG1a, PMI, PMI1	uc002czf.4	O15305	OTTHUMG00000129697	ENST00000268261.4:c.644G>A	16.37:g.8941585G>A	ENSP00000268261:p.Gly215Asp					PMM2_ENST00000566983.1_Missense_Mutation_p.G188D|PMM2_ENST00000539622.1_Missense_Mutation_p.G132D|PMM2_ENST00000537352.1_Missense_Mutation_p.G90D|PMM2_ENST00000569958.1_Missense_Mutation_p.G124D|RP11-152P23.2_ENST00000567942.1_RNA	p.G215D	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN			8	710	+			215					A8K672|B7Z6R0|D3DUF3	Missense_Mutation	SNP	ENST00000268261.4	37	c.644G>A	CCDS10536.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581762	0.86748	.	.	ENSG00000140650	ENST00000268261;ENST00000539622;ENST00000537352	D;D;D	0.99458	-5.93;-5.93;-5.93	5.21	5.21	0.72293	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.99694	0.9884	H	0.95151	3.63	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.989;0.974;0.998	D	0.97498	1.0058	10	0.87932	D	0	.	18.1169	0.89559	0.0:0.0:1.0:0.0	.	68;132;215	B7Z922;F5H0W0;O15305	.;.;PMM2_HUMAN	D	215;132;90	ENSP00000268261:G215D;ENSP00000445879:G132D;ENSP00000438359:G90D	ENSP00000268261:G215D	G	+	2	0	PMM2	8849086	1.000000	0.71417	0.990000	0.47175	0.719000	0.41307	8.022000	0.88759	2.582000	0.87167	0.650000	0.86243	GGC		0.542	PMM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251904.1	NM_000303		4	145	0	0	0	1	0	4	145				
ATF5	22809	broad.mit.edu	37	19	50434167	50434167	+	Silent	SNP	G	G	A	rs150212158	byFrequency	TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:50434167G>A	ENST00000423777.2	+	2	437	c.60G>A	c.(58-60)ggG>ggA	p.G20G	NUP62_ENST00000413454.1_5'Flank|ATF5_ENST00000600336.1_Silent_p.G20G|NUP62_ENST00000600583.1_5'Flank|IL4I1_ENST00000595948.1_5'Flank|NUP62_ENST00000596217.1_5'Flank|MIR4751_ENST00000578027.1_RNA|CTC-326K19.6_ENST00000451973.1_Intron|NUP62_ENST00000597723.1_5'Flank|IL4I1_ENST00000341114.3_5'Flank|NUP62_ENST00000597029.1_5'Flank|NUP62_ENST00000352066.3_5'Flank|ATF5_ENST00000595125.1_Silent_p.G20G|NUP62_ENST00000422090.2_5'Flank	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	20					multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	CAGCTAGTGGGCTGGGATGGC	0.672													G|||	9	0.00179712	0.0	0.0	5008	,	,		14148	0.0		0.005	False		,,,				2504	0.0041				GBM(48;768 989 9196 9511 26329)	ENST00000423777.2																			0				NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7						c.(58-60)ggG>ggA		activating transcription factor 5		G	,	5,4401		0,5,2198	22.0	22.0	22.0		60,60	2.3	1.0	19	dbSNP_134	22	46,8552		0,46,4253	no	coding-synonymous,coding-synonymous	ATF5	NM_001193646.1,NM_012068.5	,	0,51,6451	AA,AG,GG		0.535,0.1135,0.3922	,	20/283,20/283	50434167	51,12953	2203	4299	6502	SO:0001819	synonymous_variant	22809				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:50434167G>A	AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"""basic leucine zipper proteins"""	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.60G>A	19.37:g.50434167G>A						CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000600336.1_Silent_p.G20G|ATF5_ENST00000595125.1_Silent_p.G20G	p.G20G	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	2	437	+		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	20					B3KND3|Q9BSA1|Q9UNQ3	Silent	SNP	ENST00000423777.2	37	c.60G>A	CCDS12789.1																																																																																				0.672	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2			16	18	0	0	0	1	0	16	18				
NOXRED1	122945	broad.mit.edu	37	14	77873857	77873857	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr14:77873857C>T	ENST00000380835.2	-	3	647	c.481G>A	c.(481-483)Gag>Aag	p.E161K	NOXRED1_ENST00000298358.3_Missense_Mutation_p.E161K	NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	161					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CTGGCCTTCTCAAGGCTGGTG	0.488																																						ENST00000380835.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(481-483)Gag>Aag		NADP-dependent oxidoreductase domain containing 1							139.0	127.0	131.0					14																	77873857		2203	4300	6503	SO:0001583	missense	122945				proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity	g.chr14:77873857C>T	AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 148"""	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.481G>A	14.37:g.77873857C>T	ENSP00000370215:p.Glu161Lys					NOXRED1_ENST00000298358.3_Missense_Mutation_p.E161K	p.E161K	NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN			3	647	-			161					B3KQ47|O95435	Missense_Mutation	SNP	ENST00000380835.2	37	c.481G>A	CCDS45142.1	.	.	.	.	.	.	.	.	.	.	C	5.513	0.279678	0.10458	.	.	ENSG00000165555	ENST00000380835;ENST00000298358;ENST00000555603	T;T;T	0.41400	1.0;1.0;1.0	5.77	-3.53	0.04667	.	1.864680	0.02006	N	0.046665	T	0.23014	0.0556	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.06499	-1.0823	10	0.11182	T	0.66	1.6058	2.3622	0.04310	0.1015:0.2257:0.2772:0.3956	.	161;161	Q6NXP6-2;Q6NXP6	.;NXRD1_HUMAN	K	161	ENSP00000370215:E161K;ENSP00000298358:E161K;ENSP00000450597:E161K	ENSP00000298358:E161K	E	-	1	0	C14orf148	76943610	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.345000	0.07770	-0.688000	0.05155	-0.953000	0.02652	GAG		0.488	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414103.1	NM_138791		23	117	0	0	0	1	0	23	117				
KIF21B	23046	broad.mit.edu	37	1	200943897	200943897	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:200943897C>T	ENST00000422435.2	-	34	5075	c.4759G>A	c.(4759-4761)Gac>Aac	p.D1587N	KIF21B_ENST00000360529.5_Missense_Mutation_p.D1574N|KIF21B_ENST00000332129.2_Missense_Mutation_p.D1574N|KIF21B_ENST00000461742.2_Missense_Mutation_p.D1587N	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1587					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ATGGGACTGTCGTGGCCCTTG	0.597																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(4720-4722)Gac>Aac		kinesin family member 21B							297.0	245.0	263.0					1																	200943897		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200943897C>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4759G>A	1.37:g.200943897C>T	ENSP00000411831:p.Asp1587Asn					KIF21B_ENST00000422435.2_Missense_Mutation_p.D1587N|KIF21B_ENST00000461742.2_Missense_Mutation_p.D1587N|KIF21B_ENST00000360529.5_Missense_Mutation_p.D1574N	p.D1574N	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			33	5036	-			1587					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.4720G>A	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	33	5.272438	0.95429	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	4.57	4.57	0.56435	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.057332	0.64402	D	0.000002	T	0.70168	0.3193	L	0.52573	1.65	0.58432	D	0.999996	D;D;D;D	0.76494	0.996;0.989;0.999;0.995	P;P;D;P	0.67103	0.869;0.805;0.949;0.794	T	0.72434	-0.4295	10	0.51188	T	0.08	.	17.3635	0.87357	0.0:1.0:0.0:0.0	.	1574;1587;1587;1574	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	N	1574;1574;1587;1587;1587	ENSP00000328494:D1574N;ENSP00000353724:D1574N;ENSP00000433808:D1587N;ENSP00000411831:D1587N	ENSP00000328494:D1574N	D	-	1	0	KIF21B	199210520	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	5.952000	0.70282	2.072000	0.62099	0.561000	0.74099	GAC		0.597	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		40	107	0	0	0	1	0	40	107				
GLI3	2737	broad.mit.edu	37	7	42005627	42005627	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr7:42005627C>A	ENST00000395925.3	-	15	3128	c.3044G>T	c.(3043-3045)gGc>gTc	p.G1015V	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1015					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGGGCCAGGCCCTCGGAGCC	0.736									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3043-3045)gGc>gTc		GLI family zinc finger 3							8.0	10.0	9.0					7																	42005627		2160	4230	6390	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005627C>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3044G>T	7.37:g.42005627C>A	ENSP00000379258:p.Gly1015Val					GLI3_ENST00000479210.1_5'UTR	p.G1015V	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	3128	-			1015					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3044G>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	3.848	-0.032376	0.07543	.	.	ENSG00000106571	ENST00000395925	T	0.12361	2.69	4.98	-4.9	0.03094	.	0.775342	0.13273	N	0.400365	T	0.07234	0.0183	L	0.27053	0.805	0.26802	N	0.969171	B	0.02656	0.0	B	0.04013	0.001	T	0.29243	-1.0018	10	0.30854	T	0.27	.	7.5457	0.27766	0.0:0.1923:0.2161:0.5916	.	1015	P10071	GLI3_HUMAN	V	1015	ENSP00000379258:G1015V	ENSP00000379258:G1015V	G	-	2	0	GLI3	41972152	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	-0.756000	0.04777	-0.853000	0.04136	0.563000	0.77884	GGC		0.736	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		10	33	1	0	9.70103e-10	1	1.09307e-09	10	33				
TET2	54790	broad.mit.edu	37	4	106157821	106157821	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr4:106157821G>T	ENST00000540549.1	+	3	3582	c.2722G>T	c.(2722-2724)Ggt>Tgt	p.G908C	TET2_ENST00000380013.4_Missense_Mutation_p.G908C|TET2_ENST00000305737.2_Missense_Mutation_p.G908C|TET2_ENST00000545826.1_Missense_Mutation_p.G908C|TET2_ENST00000394764.1_Missense_Mutation_p.G908C|TET2_ENST00000413648.2_Missense_Mutation_p.G908C|TET2_ENST00000513237.1_Missense_Mutation_p.G929C			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	908	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.G908fs*14(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGATATGTCTGGTCAACAAGC	0.438			"""Mis N, F"""		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		1	Insertion - Frameshift(1)	p.G908fs*14(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(2785-2787)Ggt>Tgt		tet methylcytosine dioxygenase 2							52.0	49.0	50.0					4																	106157821		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106157821G>T	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2722G>T	4.37:g.106157821G>T	ENSP00000442788:p.Gly908Cys					TET2_ENST00000413648.2_Missense_Mutation_p.G908C|TET2_ENST00000545826.1_Missense_Mutation_p.G908C|TET2_ENST00000394764.1_Missense_Mutation_p.G908C|TET2_ENST00000380013.4_Missense_Mutation_p.G908C|TET2_ENST00000540549.1_Missense_Mutation_p.G908C|TET2_ENST00000305737.2_Missense_Mutation_p.G908C	p.G929C			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	3582	+		Myeloproliferative disorder(5;0.0393)	908			Gln-rich.		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.2785G>T	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496803	0.26861	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.04156	3.72;4.36;3.69;4.36;4.36;3.72;3.73	5.51	-3.46	0.04767	.	1.094700	0.07169	U	0.852077	T	0.03178	0.0093	L	0.27053	0.805	0.09310	N	1	B;B;B	0.12630	0.001;0.001;0.006	B;B;B	0.12156	0.002;0.002;0.007	T	0.47182	-0.9137	10	0.72032	D	0.01	.	0.9387	0.01351	0.4225:0.1911:0.197:0.1894	.	929;908;908	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	C	908;908;908;929;908;908;908	ENSP00000306705:G908C;ENSP00000442788:G908C;ENSP00000442867:G908C;ENSP00000425443:G929C;ENSP00000369351:G908C;ENSP00000378245:G908C;ENSP00000391448:G908C	ENSP00000265149:G908C	G	+	1	0	TET2	106377270	0.000000	0.05858	0.000000	0.03702	0.385000	0.30292	0.197000	0.17197	-0.698000	0.05085	-0.345000	0.07892	GGT		0.438	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		20	26	1	0	4.35082e-09	1	4.86805e-09	20	26				
LRRC4	64101	broad.mit.edu	37	7	127670544	127670544	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr7:127670544G>C	ENST00000249363.3	-	2	407	c.150C>G	c.(148-150)tgC>tgG	p.C50W	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	50	LRRNT.				postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		TACTGCACGAGCAGACGGAGG	0.647																																						ENST00000249363.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26						c.(148-150)tgC>tgG		leucine rich repeat containing 4							81.0	89.0	86.0					7																	127670544		2203	4300	6503	SO:0001583	missense	64101					cell junction|integral to membrane|postsynaptic membrane		g.chr7:127670544G>C	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.150C>G	7.37:g.127670544G>C	ENSP00000249363:p.Cys50Trp					SND1_ENST00000354725.3_Intron	p.C50W	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN		Lung(243;0.124)	2	407	-			50			LRRNT.		A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	37	c.150C>G	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.367954	0.42003	.	.	ENSG00000128594	ENST00000249363;ENST00000476782;ENST00000478726	T;D	0.99930	0.99;-8.16	4.66	1.76	0.24704	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99930	0.9968	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97128	0.9816	10	0.87932	D	0	.	6.6898	0.23165	0.4075:0.0:0.5925:0.0	.	50	Q9HBW1	LRRC4_HUMAN	W	50	ENSP00000249363:C50W;ENSP00000418093:C50W	ENSP00000249363:C50W	C	-	3	2	LRRC4	127457780	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.643000	0.24750	0.534000	0.28695	-0.140000	0.14226	TGC		0.647	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		24	163	0	0	0	1	0	24	163				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	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			6	79	0	0	0	1	0	6	79				
ATP6V1G3	127124	broad.mit.edu	37	1	198492565	198492565	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:198492565C>T	ENST00000367382.1	-	3	397	c.313G>A	c.(313-315)Gac>Aac	p.D105N	ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.D111N|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.D105N|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.D111N			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	105					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						GGTTTCATGTCACAGACCATG	0.388																																						ENST00000367381.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						c.(331-333)Gac>Aac		ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3							179.0	148.0	158.0					1																	198492565		2203	4300	6503	SO:0001583	missense	127124				cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding	g.chr1:198492565C>T	AY039760	CCDS1395.1, CCDS1396.1	1q32.2	2010-04-21	2006-01-13		ENSG00000151418	ENSG00000151418		"""ATPases / V-type"""	18265	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 3"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3"""			9442887	Standard	NM_133262		Approved	ATP6G3, Vma10	uc001gup.3	Q96LB4	OTTHUMG00000035661	ENST00000367382.1:c.313G>A	1.37:g.198492565C>T	ENSP00000356352:p.Asp105Asn					ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.D105N|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.D111N|ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.D105N	p.D111N			Q96LB4	VATG3_HUMAN			5	436	-			105					Q495K2|Q495K4|Q5T9L6	Missense_Mutation	SNP	ENST00000367382.1	37	c.331G>A	CCDS1395.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580095	0.46006	.	.	ENSG00000151418	ENST00000367382;ENST00000367381;ENST00000281087;ENST00000489986	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.95	4.03	0.46877	.	0.202248	0.51477	D	0.000093	T	0.34832	0.0911	L	0.45051	1.395	0.44852	D	0.99786	B;B	0.21309	0.054;0.039	B;B	0.26693	0.043;0.072	T	0.16897	-1.0387	10	0.45353	T	0.12	-24.7294	9.1535	0.36978	0.0:0.8345:0.0:0.1655	.	111;105	Q96LB4-4;Q96LB4	.;VATG3_HUMAN	N	105;111;105;111	ENSP00000356352:D105N;ENSP00000356351:D111N;ENSP00000281087:D105N;ENSP00000417171:D111N	ENSP00000281087:D105N	D	-	1	0	ATP6V1G3	196759188	0.794000	0.28838	0.868000	0.34077	0.950000	0.60333	1.078000	0.30754	1.301000	0.44836	0.655000	0.94253	GAC		0.388	ATP6V1G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086559.1	NM_133326		5	25	0	0	0	1	0	5	25				
DLGAP2	9228	broad.mit.edu	37	8	1497631	1497631	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr8:1497631C>G	ENST00000421627.2	+	2	906	c.772C>G	c.(772-774)Ctg>Gtg	p.L258V		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	337					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CTTCGGGGACCTGTCCCTCAA	0.672																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(772-774)Ctg>Gtg		discs, large (Drosophila) homolog-associated protein 2							51.0	59.0	56.0					8																	1497631		2108	4244	6352	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497631C>G	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.772C>G	8.37:g.1497631C>G	ENSP00000400258:p.Leu258Val						p.L258V	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	906	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	337					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.772C>G	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962479	0.53400	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.47528	0.84	5.3	4.43	0.53597	.	0.235872	0.42964	D	0.000638	T	0.52581	0.1743	M	0.81239	2.535	0.36837	D	0.887188	P;P	0.49090	0.905;0.919	B;P	0.44518	0.439;0.452	T	0.61997	-0.6947	10	0.23891	T	0.37	-9.3967	13.764	0.62983	0.0:0.9255:0.0:0.0745	.	337;337	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	V	303;258	ENSP00000400258:L258V	ENSP00000348366:L303V	L	+	1	2	DLGAP2	1485038	1.000000	0.71417	0.895000	0.35142	0.717000	0.41224	4.251000	0.58778	1.219000	0.43474	0.655000	0.94253	CTG		0.672	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		57	166	0	0	0	1	0	57	166				
CYP2C8	1558	broad.mit.edu	37	10	96798665	96798665	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr10:96798665G>T	ENST00000371270.3	-	8	1374	c.1280C>A	c.(1279-1281)cCt>cAt	p.P427H	CYP2C8_ENST00000535898.1_Missense_Mutation_p.P325H	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	427					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	TGCTGAGAAAGGCATGAAGTA	0.378																																						ENST00000371270.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(1279-1281)cCt>cAt		cytochrome P450, family 2, subfamily C, polypeptide 8	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						100.0	93.0	96.0					10																	96798665		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96798665G>T	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.1280C>A	10.37:g.96798665G>T	ENSP00000360317:p.Pro427His					CYP2C8_ENST00000535898.1_Missense_Mutation_p.P325H	p.P427H	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	8	1374	-		Colorectal(252;0.0397)	427					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.1280C>A	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464126	0.63513	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898	D;D	0.84146	-1.81;-1.81	4.09	3.18	0.36537	.	0.000000	0.64402	U	0.000001	D	0.94679	0.8284	H	0.98314	4.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.94480	0.7692	10	0.87932	D	0	.	9.7702	0.40585	0.1042:0.0:0.8958:0.0	.	325;395;427	B7Z1F6;B7Z8S1;P10632	.;.;CP2C8_HUMAN	H	427;394;325	ENSP00000360317:P427H;ENSP00000445062:P325H	ENSP00000360317:P427H	P	-	2	0	CYP2C8	96788655	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	4.838000	0.62803	1.066000	0.40716	0.591000	0.81541	CCT		0.378	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		10	61	1	0	0.000978159	1	0.00099685	10	61				
EIF4ENIF1	56478	broad.mit.edu	37	22	31844168	31844168	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr22:31844168G>A	ENST00000397525.1	-	13	2042	c.1819C>T	c.(1819-1821)Cgc>Tgc	p.R607C	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R432C|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R583C|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R607C|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R262C	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	607						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.R607C(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATGGGTTTGCGCATGCCTTGG	0.532																																						ENST00000397525.1																			1	Substitution - Missense(1)	p.R607C(1)	large_intestine(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1819-1821)Cgc>Tgc		eukaryotic translation initiation factor 4E nuclear import factor 1							246.0	214.0	225.0					22																	31844168		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31844168G>A	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1819C>T	22.37:g.31844168G>A	ENSP00000380659:p.Arg607Cys					EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R583C|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R262C|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R432C|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R607C	p.R607C	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			13	2042	-			607					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.1819C>T	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597284	0.87055	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000418321	.	.	.	6.16	6.16	0.99307	.	0.182608	0.51477	D	0.000084	T	0.67496	0.2899	L	0.43152	1.355	0.51482	D	0.999927	D;D;D;D	0.89917	1.0;1.0;1.0;0.995	D;D;D;P	0.68621	0.959;0.926;0.931;0.807	T	0.66040	-0.6022	9	0.51188	T	0.08	-6.7681	13.3547	0.60621	0.0:0.0:0.833:0.167	.	432;607;432;583	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	C	432;607;607;583;262;164	.	ENSP00000328103:R607C	R	-	1	0	EIF4ENIF1	30174168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.645000	0.61404	2.937000	0.99478	0.650000	0.86243	CGC		0.532	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		4	193	0	0	0	1	0	4	193				
TRIM11	81559	broad.mit.edu	37	1	228582787	228582787	+	Silent	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:228582787G>A	ENST00000284551.6	-	6	1304	c.1026C>T	c.(1024-1026)caC>caT	p.H342H	TRIM11_ENST00000493030.2_Silent_p.H217H|TRIM11_ENST00000460651.1_5'UTR|RP11-245P10.8_ENST00000602963.1_RNA	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	342	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				CCTCCCAGTAGTGGCGGCCTG	0.706																																						ENST00000493030.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18						c.(649-651)caC>caT		tripartite motif containing 11							41.0	40.0	41.0					1																	228582787		2203	4300	6503	SO:0001819	synonymous_variant	81559				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr1:228582787G>A	AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16281	protein-coding gene	gene with protein product		607868	"""tripartite motif-containing 11"""			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.1026C>T	1.37:g.228582787G>A						TRIM11_ENST00000284551.6_Silent_p.H342H|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR	p.H217H			Q96F44	TRI11_HUMAN			5	4360	-		Prostate(94;0.0724)	342					A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Silent	SNP	ENST00000284551.6	37	c.651C>T	CCDS31048.1																																																																																				0.706	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214		29	47	0	0	0	1	0	29	47				
FAM21C	253725	broad.mit.edu	37	10	46250521	46250521	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr10:46250521G>A	ENST00000336378.4	+	15	1496	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	FAM21C_ENST00000359860.4_Missense_Mutation_p.D404N|FAM21C_ENST00000537517.1_Missense_Mutation_p.D436N|FAM21C_ENST00000540872.1_Missense_Mutation_p.D460N|FAM21C_ENST00000374362.2_Missense_Mutation_p.D460N	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	460	Poly-Asp.				retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						tgatgatgatgacgaCTTTTT	0.498																																						ENST00000336378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1378-1380)Gac>Aac		family with sequence similarity 21, member C							32.0	36.0	35.0					10																	46250521		1859	4099	5958	SO:0001583	missense	253725							g.chr10:46250521G>A		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1378G>A	10.37:g.46250521G>A	ENSP00000337541:p.Asp460Asn					FAM21C_ENST00000374362.2_Missense_Mutation_p.D460N|FAM21C_ENST00000537517.1_Missense_Mutation_p.D436N|FAM21C_ENST00000540872.1_Missense_Mutation_p.D460N|FAM21C_ENST00000359860.4_Missense_Mutation_p.D404N	p.D460N	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN			15	1496	+			460					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37	c.1378G>A		.	.	.	.	.	.	.	.	.	.	G	6.200	0.405024	0.11754	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.18	2.24	0.28232	.	0.055857	0.64402	D	0.000002	T	0.55114	0.1900	L	0.60845	1.875	0.32349	N	0.558698	B;D;D;D	0.76494	0.021;0.999;0.999;0.993	B;D;D;D	0.70227	0.027;0.968;0.968;0.951	T	0.58624	-0.7604	9	0.27785	T	0.31	-6.9624	5.4316	0.16456	0.1683:0.0:0.8317:0.0	.	436;460;460;405	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	N	460;460;436;460;460;404;372	.	ENSP00000337541:D460N	D	+	1	0	FAM21C	45570527	0.854000	0.29725	0.143000	0.22291	0.412000	0.31113	2.952000	0.49097	0.637000	0.30526	0.603000	0.83216	GAC		0.498	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				9	32	0	0	0	1	0	9	32				
EPX	8288	broad.mit.edu	37	17	56281612	56281612	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:56281612C>A	ENST00000225371.5	+	12	2086	c.1976C>A	c.(1975-1977)aCc>aAc	p.T659N		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	659				RDGDRFWWQKRGVFTK -> ETETGSGGRTRCFHQ (in Ref. 3; AA sequence). {ECO:0000305}.	defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	GGTGTTTTCACCAAAAGACAG	0.493																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(1975-1977)aCc>aAc		eosinophil peroxidase							101.0	88.0	92.0					17																	56281612		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56281612C>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1976C>A	17.37:g.56281612C>A	ENSP00000225371:p.Thr659Asn						p.T659N	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			12	2086	+			659	RDGDRFWWQKRGVFTK -> ETETGSGGRTRCFHQ (in Ref. 3; AA sequence).				Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.1976C>A	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320393	0.81469	.	.	ENSG00000121053	ENST00000225371	T	0.77358	-1.09	5.65	5.65	0.86999	.	0.148106	0.64402	D	0.000009	D	0.88171	0.6365	M	0.83118	2.625	0.52501	D	0.999951	D	0.67145	0.996	D	0.63957	0.92	D	0.89158	0.3528	10	0.62326	D	0.03	-28.2675	17.2336	0.86991	0.0:1.0:0.0:0.0	.	659	P11678	PERE_HUMAN	N	659	ENSP00000225371:T659N	ENSP00000225371:T659N	T	+	2	0	EPX	53636611	0.999000	0.42202	1.000000	0.80357	0.935000	0.57460	3.739000	0.55075	2.660000	0.90430	0.655000	0.94253	ACC		0.493	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		30	103	1	0	4.74835e-14	1	5.46573e-14	30	103				
SLC30A9	10463	broad.mit.edu	37	4	42025371	42025371	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr4:42025371C>T	ENST00000264451.7	+	6	760	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	194					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAAAAAATTGCGTAAGGAAGC	0.338																																						ENST00000264451.6																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(580-582)Cgt>Tgt		solute carrier family 30 (zinc transporter), member 9							99.0	105.0	103.0					4																	42025371		2203	4300	6503	SO:0001583	missense	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42025371C>T	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.580C>T	4.37:g.42025371C>T	ENSP00000264451:p.Arg194Cys						p.R194C	NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN			6	760	+			194					Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Missense_Mutation	SNP	ENST00000264451.7	37	c.580C>T	CCDS3465.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937151	0.73557	.	.	ENSG00000014824	ENST00000264451;ENST00000536881	T	0.56776	0.44	5.48	5.48	0.80851	DNA binding domain, putative (1);	0.000000	0.85682	D	0.000000	T	0.72455	0.3462	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	T	0.76334	-0.2997	10	0.87932	D	0	-11.4523	14.2117	0.65769	0.1494:0.8506:0.0:0.0	.	194	Q6PML9	ZNT9_HUMAN	C	194;22	ENSP00000264451:R194C	ENSP00000264451:R194C	R	+	1	0	SLC30A9	41720128	1.000000	0.71417	0.987000	0.45799	0.987000	0.75469	4.636000	0.61339	2.556000	0.86216	0.585000	0.79938	CGT		0.338	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3			3	46	0	0	0	1	0	3	46				
MYO18B	84700	broad.mit.edu	37	22	26388443	26388443	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr22:26388443G>T	ENST00000407587.2	+	40	6443	c.6274G>T	c.(6274-6276)Gac>Tac	p.D2092Y	MYO18B_ENST00000335473.7_Missense_Mutation_p.D2091Y|MYO18B_ENST00000536101.1_Missense_Mutation_p.D2091Y			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2091						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGCATCCAGTGACAGTGATAC	0.622																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(6271-6273)Gac>Tac		myosin XVIIIB							53.0	54.0	54.0					22																	26388443		1998	4165	6163	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26388443G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6274G>T	22.37:g.26388443G>T	ENSP00000386096:p.Asp2092Tyr					MYO18B_ENST00000536101.1_Missense_Mutation_p.D2091Y|MYO18B_ENST00000407587.2_Missense_Mutation_p.D2092Y	p.D2091Y	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			40	6521	+			2091					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.6271G>T		.	.	.	.	.	.	.	.	.	.	G	16.39	3.110646	0.56398	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.88818	-2.41;-2.41;-2.43	5.26	3.06	0.35304	.	0.605465	0.15174	N	0.276490	D	0.89061	0.6608	L	0.27053	0.805	0.43965	D	0.996641	D;D;D;D;D	0.89917	0.988;0.989;0.989;1.0;0.993	P;P;P;D;P	0.74348	0.847;0.781;0.781;0.983;0.891	D	0.87798	0.2623	10	0.66056	D	0.02	.	9.4795	0.38891	0.0852:0.148:0.7668:0.0	.	1604;2093;2091;2092;2091	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	Y	2091;2091;2092	ENSP00000441229:D2091Y;ENSP00000334563:D2091Y;ENSP00000386096:D2092Y	ENSP00000334563:D2091Y	D	+	1	0	MYO18B	24718443	1.000000	0.71417	0.989000	0.46669	0.479000	0.33129	5.670000	0.68088	2.463000	0.83235	0.655000	0.94253	GAC		0.622	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		20	63	1	0	1.50039e-11	1	1.70257e-11	20	63				
ASGR2	433	broad.mit.edu	37	17	7005470	7005470	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:7005470G>C	ENST00000380952.2	-	8	973	c.709C>G	c.(709-711)Ctc>Gtc	p.L237V	ASGR2_ENST00000446679.2_Missense_Mutation_p.L218V|ASGR2_ENST00000254850.7_Missense_Mutation_p.L213V|ASGR2_ENST00000355035.5_Missense_Mutation_p.L237V	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	237	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	CTGTCCGTGAGACCTATCCAG	0.463																																						ENST00000380952.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18						c.(709-711)Ctc>Gtc		asialoglycoprotein receptor 2	Antihemophilic Factor(DB00025)						360.0	340.0	347.0					17																	7005470		2203	4300	6503	SO:0001583	missense	433				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	g.chr17:7005470G>C	M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"""C-type lectin domain containing"""	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.709C>G	17.37:g.7005470G>C	ENSP00000370339:p.Leu237Val					ASGR2_ENST00000254850.7_Missense_Mutation_p.L213V|ASGR2_ENST00000355035.5_Missense_Mutation_p.L237V|ASGR2_ENST00000446679.2_Missense_Mutation_p.L218V	p.L237V	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN			8	973	-			237			C-type lectin.		A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	ENST00000380952.2	37	c.709C>G	CCDS32544.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983715	0.53827	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	4.41	3.44	0.39384	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.39909	N	0.001221	T	0.58090	0.2098	M	0.91561	3.22	0.27092	N	0.96282	P;D;D;D;D	0.61080	0.492;0.989;0.989;0.986;0.989	B;D;D;D;D	0.71414	0.277;0.973;0.973;0.955;0.938	T	0.54846	-0.8232	10	0.87932	D	0	.	8.2748	0.31866	0.1056:0.0:0.8944:0.0	.	213;237;232;218;237	P07307-3;P07307;Q7Z4G9;P07307-2;D3DTN0	.;ASGR2_HUMAN;.;.;.	V	237;213;237;218	ENSP00000347140:L237V;ENSP00000254850:L213V;ENSP00000370339:L237V;ENSP00000405844:L218V	ENSP00000254850:L213V	L	-	1	0	ASGR2	6946194	0.997000	0.39634	0.862000	0.33874	0.923000	0.55619	3.086000	0.50159	1.469000	0.48083	0.650000	0.86243	CTC		0.463	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914		62	326	0	0	0	1	0	62	326				
C12orf49	79794	broad.mit.edu	37	12	117175616	117175616	+	Silent	SNP	G	G	A	rs374834316		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:117175616G>A	ENST00000261318.3	-	1	250	c.90C>T	c.(88-90)ttC>ttT	p.F30F	RNFT2_ENST00000407967.3_5'Flank|RNFT2_ENST00000319176.7_5'Flank|RNFT2_ENST00000257575.4_5'Flank|RNFT2_ENST00000392549.2_5'Flank|C12orf49_ENST00000536380.1_Missense_Mutation_p.P53S	NM_024738.1	NP_079014.1	Q9H741	CL049_HUMAN	chromosome 12 open reading frame 49	30						extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		TGCTGCTGAGGAAGTAGACGA	0.627																																						ENST00000536380.1																			0				endometrium(1)|lung(1)|ovary(1)|skin(1)	4						c.(157-159)Cct>Tct		chromosome 12 open reading frame 49		G		0,4404		0,0,2202	76.0	50.0	59.0		90	4.8	1.0	12		59	3,8595	2.2+/-6.3	0,3,4296	no	coding-synonymous	C12orf49	NM_024738.1		0,3,6498	AA,AG,GG		0.0349,0.0,0.0231		30/206	117175616	3,12999	2202	4299	6501	SO:0001819	synonymous_variant	79794					extracellular region		g.chr12:117175616G>A	AK025068	CCDS9179.1	12q24.22	2012-05-30			ENSG00000111412	ENSG00000111412			26128	protein-coding gene	gene with protein product						12477932	Standard	NM_024738		Approved	FLJ21415	uc001tvz.1	Q9H741	OTTHUMG00000169392	ENST00000261318.3:c.90C>T	12.37:g.117175616G>A						C12orf49_ENST00000261318.3_Silent_p.F30F	p.P53S			Q9H741	CL049_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0281)	1	258	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		0					Q53GE8	Missense_Mutation	SNP	ENST00000261318.3	37	c.157C>T	CCDS9179.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.14|10.14	1.268809|1.268809	0.23136|0.23136	0.0|0.0	3.49E-4|3.49E-4	ENSG00000111412|ENSG00000111412	ENST00000536380|ENST00000547606	.|.	.|.	.|.	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	.|.	.|.	.|.	.|.	T|T	0.50051|0.50051	0.1593|0.1593	.|.	.|.	.|.	0.24947|0.24947	N|N	0.991815|0.991815	B|.	0.19331|.	0.035|.	B|.	0.23275|.	0.045|.	T|T	0.42515|0.42515	-0.9447|-0.9447	7|4	0.14252|.	T|.	0.57|.	-23.2364|-23.2364	15.0858|15.0858	0.72151|0.72151	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	53|.	F5H6Y2|.	.|.	S|F	53|9	.|.	ENSP00000442947:P53S|.	P|S	-|-	1|2	0|0	C12orf49|C12orf49	115659999|115659999	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.877000|2.877000	0.48506|0.48506	2.468000|2.468000	0.83385|0.83385	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.627	C12orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403847.1	NM_024738		20	25	0	0	0	1	0	20	25				
BOD1L1	259282	broad.mit.edu	37	4	13606484	13606484	+	Silent	SNP	T	T	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr4:13606484T>C	ENST00000040738.5	-	10	2175	c.2040A>G	c.(2038-2040)gtA>gtG	p.V680V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	680	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										CTGAGCGTTCTACTTGCCTTT	0.398																																						ENST00000040738.5																			0											c.(2038-2040)gtA>gtG		biorientation of chromosomes in cell division 1-like 1							263.0	276.0	271.0					4																	13606484		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13606484T>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2040A>G	4.37:g.13606484T>C							p.V680V	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	2175	-			680			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.2040A>G	CCDS3411.2																																																																																				0.398	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		69	189	0	0	0	1	0	69	189				
PKHD1L1	93035	broad.mit.edu	37	8	110520343	110520343	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr8:110520343A>G	ENST00000378402.5	+	70	11349	c.11245A>G	c.(11245-11247)Acc>Gcc	p.T3749A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3749					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TAGAGATTCAACCTGTAAGTA	0.338										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(11245-11247)Acc>Gcc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							117.0	111.0	112.0					8																	110520343		1827	4081	5908	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110520343A>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11245A>G	8.37:g.110520343A>G	ENSP00000367655:p.Thr3749Ala	HNSCC(38;0.096)					p.T3749A	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		70	11349	+			3749					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.11245A>G	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.643400	0.29246	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.85411	-1.98;-1.81	5.71	4.48	0.54585	.	0.353989	0.27027	N	0.021290	T	0.78400	0.4277	L	0.45581	1.43	0.19945	N	0.999945	B	0.06786	0.001	B	0.04013	0.001	T	0.66023	-0.6026	10	0.39692	T	0.17	.	8.1768	0.31287	0.7155:0.0:0.0:0.2845	.	3749	Q86WI1	PKHL1_HUMAN	A	3749;677	ENSP00000367655:T3749A;ENSP00000437376:T677A	ENSP00000367655:T3749A	T	+	1	0	PKHD1L1	110589519	0.257000	0.24022	1.000000	0.80357	0.956000	0.61745	2.252000	0.43196	2.171000	0.68590	0.533000	0.62120	ACC		0.338	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		34	75	0	0	0	1	0	34	75				
BTAF1	9044	broad.mit.edu	37	10	93756262	93756262	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr10:93756262T>C	ENST00000265990.6	+	24	3754	c.3446T>C	c.(3445-3447)gTt>gCt	p.V1149A	BTAF1_ENST00000544642.1_5'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1149					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTGGAGAAGGTTCTTCCGTGG	0.433																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(3445-3447)gTt>gCt		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							113.0	107.0	109.0					10																	93756262		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93756262T>C	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3446T>C	10.37:g.93756262T>C	ENSP00000265990:p.Val1149Ala					BTAF1_ENST00000544642.1_5'UTR	p.V1149A	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			24	3754	+		Colorectal(252;0.0846)	1149					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.3446T>C	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.061252	0.76187	.	.	ENSG00000095564	ENST00000265990	T	0.67865	-0.29	5.87	5.87	0.94306	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66366	0.2782	L	0.58925	1.835	0.80722	D	1	B;B	0.33964	0.434;0.434	B;B	0.36335	0.222;0.222	T	0.65825	-0.6074	10	0.41790	T	0.15	-25.6475	16.5764	0.84681	0.0:0.0:0.0:1.0	.	1149;1149	Q2M1V9;O14981	.;BTAF1_HUMAN	A	1149	ENSP00000265990:V1149A	ENSP00000265990:V1149A	V	+	2	0	BTAF1	93746242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.371000	0.80710	0.533000	0.62120	GTT		0.433	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		3	63	0	0	0	1	0	3	63				
PML	5371	broad.mit.edu	37	15	74327691	74327691	+	Intron	SNP	A	A	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr15:74327691A>T	ENST00000268058.3	+	7	1806				PML_ENST00000268059.6_Missense_Mutation_p.Q630L|PML_ENST00000354026.6_Missense_Mutation_p.Q582L|PML_ENST00000565898.1_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000569477.1_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000395135.3_Intron	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCCGCTGAGCAGGCTGCCACC	0.662			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000268059.6				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(1888-1890)cAg>cTg		promyelocytic leukemia							51.0	55.0	54.0					15																	74327691		2197	4297	6494	SO:0001627	intron_variant	5371				cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74327691A>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1710+820A>T	15.37:g.74327691A>T						PML_ENST00000436891.3_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000569477.1_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000565898.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000354026.6_Missense_Mutation_p.Q582L|PML_ENST00000564428.1_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000563500.1_3'UTR	p.Q630L	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN			8	1985	+			31					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.1889A>T	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.609244	0.46527	.	.	ENSG00000140464	ENST00000268059;ENST00000354026	.	.	.	3.02	-1.07	0.09968	.	.	.	.	.	T	0.12689	0.0308	N	0.08118	0	0.09310	N	1	P;P	0.42518	0.557;0.782	B;B	0.37144	0.154;0.242	T	0.14671	-1.0464	8	0.87932	D	0	.	4.5397	0.12050	0.5826:0.2864:0.131:0.0	.	582;630	P29590-13;P29590-8	.;.	L	630;582	.	ENSP00000268059:Q630L	Q	+	2	0	PML	72114744	0.003000	0.15002	0.005000	0.12908	0.056000	0.15407	0.944000	0.29043	-0.216000	0.10048	0.459000	0.35465	CAG		0.662	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		56	115	0	0	0	1	0	56	115				
TP53	7157	broad.mit.edu	37	17	7579373	7579373	+	Missense_Mutation	SNP	C	C	A	rs587781504		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:7579373C>A	ENST00000269305.4	-	4	503	c.314G>T	c.(313-315)gGc>gTc	p.G105V	TP53_ENST00000420246.2_Missense_Mutation_p.G105V|TP53_ENST00000445888.2_Missense_Mutation_p.G105V|TP53_ENST00000455263.2_Missense_Mutation_p.G105V|TP53_ENST00000413465.2_Missense_Mutation_p.G105V|TP53_ENST00000359597.4_Missense_Mutation_p.G105V|TP53_ENST00000574684.1_5'Flank	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	105	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (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.0?(8)|p.G105D(4)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105A(1)|p.G105V(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)	ACCGTAGCTGCCCTGGTAGGT	0.622		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		28	Deletion - Frameshift(11)|Whole gene deletion(8)|Substitution - Missense(6)|Complex - deletion inframe(2)|Deletion - In frame(1)	p.0?(8)|p.G105D(4)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105A(1)|p.G105V(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)	lung(5)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|ovary(3)|large_intestine(2)|liver(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(313-315)gGc>gTc	Other conserved DNA damage response genes	tumor protein p53							56.0	55.0	55.0					17																	7579373		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.chr17:7579373C>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.314G>T	17.37:g.7579373C>A	ENSP00000269305:p.Gly105Val	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_ENST00000455263.2_Missense_Mutation_p.G105V|TP53_ENST00000269305.4_Missense_Mutation_p.G105V|TP53_ENST00000445888.2_Missense_Mutation_p.G105V|TP53_ENST00000413465.2_Missense_Mutation_p.G105V|TP53_ENST00000359597.4_Missense_Mutation_p.G105V	p.G105V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	446	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	105		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		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.314G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486008	0.63962	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99900	0.9952	M	0.90870	3.155	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.988;0.995;1.0;0.999;0.996;1.0	D	0.96097	0.9066	10	0.87932	D	0	-24.4789	15.6419	0.77012	0.0:1.0:0.0:0.0	.	66;105;105;105;105;105;105	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	105	ENSP00000410739:G105V;ENSP00000352610:G105V;ENSP00000269305:G105V;ENSP00000398846:G105V;ENSP00000391127:G105V;ENSP00000391478:G105V;ENSP00000424104:G105V;ENSP00000426252:G105V	ENSP00000269305:G105V	G	-	2	0	TP53	7520098	1.000000	0.71417	0.208000	0.23602	0.368000	0.29767	6.208000	0.72165	2.630000	0.89119	0.655000	0.94253	GGC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		41	109	1	0	6.2361e-21	1	7.33659e-21	41	109				
GPR50	9248	broad.mit.edu	37	X	150348704	150348704	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chrX:150348704G>A	ENST00000218316.3	+	2	718	c.649G>A	c.(649-651)Gcg>Acg	p.A217T	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	217					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAAAGTGCTGGCGGCCCGTGA	0.527																																						ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(649-651)Gcg>Acg		G protein-coupled receptor 50							182.0	162.0	169.0					X																	150348704		2086	4198	6284	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150348704G>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.649G>A	X.37:g.150348704G>A	ENSP00000218316:p.Ala217Thr						p.A217T	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	718	+	Acute lymphoblastic leukemia(192;6.56e-05)		217					Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.649G>A	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059706	0.36373	.	.	ENSG00000102195	ENST00000535473;ENST00000218316	T	0.37235	1.21	4.33	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.312862	0.35291	N	0.003310	T	0.32133	0.0819	N	0.25485	0.75	0.34511	D	0.707095	P;P	0.41597	0.756;0.631	P;P	0.49528	0.503;0.614	T	0.41502	-0.9505	10	0.40728	T	0.16	-2.481	8.323	0.32140	0.0:0.328:0.672:0.0	.	170;217	F5H1S3;Q13585	.;MTR1L_HUMAN	T	170;217	ENSP00000218316:A217T	ENSP00000218316:A217T	A	+	1	0	GPR50	150099362	1.000000	0.71417	0.936000	0.37596	0.075000	0.17131	4.546000	0.60705	1.903000	0.55091	0.529000	0.55759	GCG		0.527	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		56	90	0	0	0	1	0	56	90				
TULP4	56995	broad.mit.edu	37	6	158923368	158923368	+	Silent	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:158923368C>T	ENST00000367097.3	+	13	4030	c.2673C>T	c.(2671-2673)ttC>ttT	p.F891F	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	891					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TCACCACCTTCGACAGCAGTG	0.642																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2671-2673)ttC>ttT		tubby like protein 4							67.0	70.0	69.0					6																	158923368		2203	4300	6503	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158923368C>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2673C>T	6.37:g.158923368C>T						TULP4_ENST00000367094.2_Intron	p.F891F	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	4030	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	891					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.2673C>T	CCDS34561.1																																																																																				0.642	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		19	119	0	0	0	1	0	19	119				
WDR17	116966	broad.mit.edu	37	4	177084311	177084311	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr4:177084311A>G	ENST00000280190.4	+	23	3085	c.2929A>G	c.(2929-2931)Atg>Gtg	p.M977V	WDR17_ENST00000507824.2_Missense_Mutation_p.M960V|WDR17_ENST00000393643.2_Missense_Mutation_p.M953V|WDR17_ENST00000508596.1_Missense_Mutation_p.M953V			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	977										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CAAGCTTGCTATGGCATACCT	0.443																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(2857-2859)Atg>Gtg		WD repeat domain 17							120.0	113.0	115.0					4																	177084311		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177084311A>G	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2929A>G	4.37:g.177084311A>G	ENSP00000280190:p.Met977Val					WDR17_ENST00000280190.4_Missense_Mutation_p.M977V|WDR17_ENST00000507824.2_Missense_Mutation_p.M960V|WDR17_ENST00000508596.1_Missense_Mutation_p.M953V	p.M953V	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	22	3109	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	977					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.2857A>G	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.22|11.22	1.574747|1.574747	0.28092|0.28092	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.55930|.	0.54;0.55;0.49|.	5.72|5.72	3.29|3.29	0.37713|0.37713	.|.	0.084795|.	0.85682|.	D|.	0.000000|.	T|T	0.58206|0.58206	0.2106|0.2106	L|L	0.55103|0.55103	1.725|1.725	0.42417|0.42417	D|D	0.992626|0.992626	B;B;B|.	0.16166|.	0.016;0.007;0.013|.	B;B;B|.	0.12156|.	0.007;0.003;0.003|.	T|T	0.54715|0.54715	-0.8252|-0.8252	10|5	0.59425|.	D|.	0.04|.	-26.1686|-26.1686	8.2494|8.2494	0.31708|0.31708	0.7959:0.135:0.0691:0.0|0.7959:0.135:0.0691:0.0	.|.	953;953;977|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	V|C	953;953;977;960|219	ENSP00000422763:M953V;ENSP00000377258:M953V;ENSP00000280190:M977V|.	ENSP00000280190:M977V|.	M|Y	+|+	1|2	0|0	WDR17|WDR17	177321305|177321305	1.000000|1.000000	0.71417|0.71417	0.890000|0.890000	0.34922|0.34922	0.657000|0.657000	0.38888|0.38888	4.352000|4.352000	0.59404|0.59404	0.971000|0.971000	0.38288|0.38288	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.443	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			39	57	0	0	0	1	0	39	57				
SOX13	9580	broad.mit.edu	37	1	204086308	204086308	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:204086308A>T	ENST00000367204.1	+	6	759	c.650A>T	c.(649-651)cAg>cTg	p.Q217L	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	217	Gln-rich.				anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTCCTTCAGCAGCAGATCCAG	0.592																																						ENST00000367204.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13						c.(649-651)cAg>cTg		SRY (sex determining region Y)-box 13							44.0	49.0	47.0					1																	204086308		2063	4202	6265	SO:0001583	missense	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204086308A>T		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.650A>T	1.37:g.204086308A>T	ENSP00000356172:p.Gln217Leu					SOX13_ENST00000367203.4_3'UTR	p.Q217L	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		6	759	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		217			Gln-rich.		B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	37	c.650A>T	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419622	0.83559	.	.	ENSG00000143842	ENST00000367204	D	0.98164	-4.76	5.09	5.09	0.68999	.	0.053428	0.85682	D	0.000000	D	0.98257	0.9423	M	0.61703	1.905	0.48762	D	0.999705	B;B;B;D	0.60575	0.002;0.002;0.012;0.988	B;B;B;P	0.60236	0.003;0.003;0.006;0.871	D	0.98609	1.0662	10	0.51188	T	0.08	.	14.5121	0.67794	1.0:0.0:0.0:0.0	.	84;85;217;199	B4DX26;B4E3N9;Q9UN79;Q5SXX2	.;.;SOX13_HUMAN;.	L	217	ENSP00000356172:Q217L	ENSP00000356172:Q217L	Q	+	2	0	SOX13	202352931	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.179000	0.89692	1.900000	0.55004	0.402000	0.26972	CAG		0.592	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		18	39	0	0	0	1	0	18	39				
DOT1L	84444	broad.mit.edu	37	19	2180755	2180755	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:2180755G>A	ENST00000398665.3	+	2	161	c.125G>A	c.(124-126)cGa>cAa	p.R42Q		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	42	DOT1. {ECO:0000255|PROSITE- ProRule:PRU00902}.				histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGACCATCCGGTGAGTGCAC	0.567																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.e2+1		DOT1-like histone H3K79 methyltransferase							88.0	95.0	93.0					19																	2180755		2136	4253	6389	SO:0001630	splice_region_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2180755G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.125+1G>A	19.37:g.2180755G>A							p.R42_splice	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	161	+		Hepatocellular(1079;0.137)	42					O60379|Q96JL1	Splice_Site	SNP	ENST00000398665.3	37	c.125_splice	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145669	0.94603	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000452696	T;T	0.20069	2.1;2.1	4.28	4.28	0.50868	.	0.000000	0.64402	D	0.000002	T	0.49795	0.1578	M	0.84219	2.685	0.58432	D	0.999996	D	0.89917	1.0	D	0.80764	0.994	T	0.59026	-0.7531	10	0.87932	D	0	-5.4176	15.8708	0.79117	0.0:0.0:1.0:0.0	.	42	Q8TEK3-2	.	Q	42	ENSP00000381657:R42Q;ENSP00000404284:R42Q	ENSP00000221482:R42Q	R	+	2	0	DOT1L	2131755	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.993000	0.70616	2.210000	0.71456	0.655000	0.94253	CGA		0.567	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482	Missense_Mutation	8	35	0	0	0	1	0	8	35				
KLHDC3	116138	broad.mit.edu	37	6	42986849	42986849	+	Silent	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:42986849C>T	ENST00000326974.4	+	9	1144	c.949C>T	c.(949-951)Ctg>Ttg	p.L317L	RRP36_ENST00000244496.5_5'Flank|KLHDC3_ENST00000332245.8_Silent_p.L258L|KLHDC3_ENST00000244670.8_Silent_p.L183L	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	317					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGAGGAAGGCCTGGGAGATGA	0.433																																						ENST00000326974.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(949-951)Ctg>Ttg		kelch domain containing 3							130.0	133.0	132.0					6																	42986849		2203	4300	6503	SO:0001819	synonymous_variant	116138				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding	g.chr6:42986849C>T	AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.949C>T	6.37:g.42986849C>T						KLHDC3_ENST00000332245.8_Silent_p.L258L|KLHDC3_ENST00000244670.8_Silent_p.L183L	p.L317L	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		9	1144	+			317					A8K2W9	Silent	SNP	ENST00000326974.4	37	c.949C>T	CCDS4880.1																																																																																				0.433	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040570.1	NM_057161		40	59	0	0	0	1	0	40	59				
HELQ	113510	broad.mit.edu	37	4	84370110	84370110	+	Missense_Mutation	SNP	C	C	A	rs563330991		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr4:84370110C>A	ENST00000295488.3	-	3	1179	c.1017G>T	c.(1015-1017)tgG>tgT	p.W339C	HELQ_ENST00000510985.1_Missense_Mutation_p.W339C	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	339					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AAGTATGTTGCCATTCTGTGG	0.323								Other identified genes with known or suspected DNA repair function																														ENST00000295488.3																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						c.(1015-1017)tgG>tgT	Other identified genes with known or suspected DNA repair function	helicase, POLQ-like							32.0	32.0	32.0					4																	84370110		2199	4299	6498	SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84370110C>A	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1017G>T	4.37:g.84370110C>A	ENSP00000295488:p.Trp339Cys					HELQ_ENST00000510985.1_Missense_Mutation_p.W339C	p.W339C	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN			3	1179	-			339					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	c.1017G>T	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586027	0.66105	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.61980	0.06;0.06	5.88	5.88	0.94601	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	D	0.87220	0.6123	H	0.97186	3.955	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.90241	0.4286	10	0.62326	D	0.03	.	20.2228	0.98330	0.0:1.0:0.0:0.0	.	339;339	E3W980;Q8TDG4	.;HELQ_HUMAN	C	339	ENSP00000295488:W339C;ENSP00000424539:W339C	ENSP00000295488:W339C	W	-	3	0	HELQ	84589134	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.124000	0.77185	2.789000	0.95967	0.655000	0.94253	TGG		0.323	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		8	17	1	0	0.000157383	1	0.000164584	8	17				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																729171							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			5	134	0	0	0	1	0	5	134				
LY96	23643	broad.mit.edu	37	8	74922333	74922333	+	Silent	SNP	C	C	T	rs148048520		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr8:74922333C>T	ENST00000284818.2	+	3	391	c.300C>T	c.(298-300)gaC>gaT	p.D100D	LY96_ENST00000518893.1_Silent_p.D70D	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	100					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			GATCTGATGACGATTACTCTT	0.313													C|||	1	0.000199681	0.0	0.0	5008	,	,		16156	0.001		0.0	False		,,,				2504	0.0				GBM(131;1357 1748 34893 50149 52212)	ENST00000284818.2																			0				endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(298-300)gaC>gaT		lymphocyte antigen 96		C	,	0,4406		0,0,2203	102.0	98.0	100.0		210,300	2.3	0.6	8	dbSNP_134	100	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous,coding-synonymous	LY96	NM_001195797.1,NM_015364.4	,	0,10,6493	TT,TC,CC		0.1163,0.0,0.0769	,	70/131,100/161	74922333	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	23643				cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding	g.chr8:74922333C>T	AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.300C>T	8.37:g.74922333C>T						LY96_ENST00000518893.1_Silent_p.D70D	p.D100D	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)		3	391	+	Breast(64;0.0311)		100					B3Y6A5|E5RJJ7	Silent	SNP	ENST00000284818.2	37	c.300C>T	CCDS6216.1																																																																																				0.313	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379032.2	NM_015364		17	64	0	0	0	1	0	17	64				
ROBO1	6091	broad.mit.edu	37	3	78795900	78795900	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:78795900C>T	ENST00000464233.1	-	5	763	c.650G>A	c.(649-651)aGa>aAa	p.R217K	ROBO1_ENST00000495273.1_Missense_Mutation_p.R178K|ROBO1_ENST00000436010.2_Missense_Mutation_p.R178K|ROBO1_ENST00000467549.1_Missense_Mutation_p.R178K	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	217	Ig-like C2-type 2.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CACAGTTATTCTTTCATCTTT	0.398																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(532-534)aGa>aAa		roundabout, axon guidance receptor, homolog 1 (Drosophila)							110.0	110.0	110.0					3																	78795900		1865	4100	5965	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78795900C>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.650G>A	3.37:g.78795900C>T	ENSP00000420321:p.Arg217Lys					ROBO1_ENST00000495273.1_Missense_Mutation_p.R178K|ROBO1_ENST00000467549.1_Missense_Mutation_p.R178K|ROBO1_ENST00000464233.1_Missense_Mutation_p.R217K	p.R178K			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	3	1530	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	217			Ig-like C2-type 2.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.533G>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588225	0.66105	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.83	5.83	0.93111	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68265	0.2982	M	0.64997	1.995	0.47308	D	0.999387	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;1.0;0.999	T	0.64563	-0.6378	9	.	.	.	.	20.1133	0.97917	0.0:1.0:0.0:0.0	.	217;178;178;178	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	K	178;178;217;178;178;217	ENSP00000406043:R178K;ENSP00000420321:R217K;ENSP00000420637:R178K;ENSP00000417992:R178K	.	R	-	2	0	ROBO1	78878590	1.000000	0.71417	0.998000	0.56505	0.071000	0.16799	5.999000	0.70665	2.762000	0.94881	0.591000	0.81541	AGA		0.398	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		6	78	0	0	0	1	0	6	78				
TRIM10	10107	broad.mit.edu	37	6	30122024	30122024	+	Missense_Mutation	SNP	G	G	A	rs562005469		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:30122024G>A	ENST00000449742.2	-	7	1243	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	390	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						TCCCCCTTCCGCTGCACATCC	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		16766	0.0		0.0	False		,,,				2504	0.001					ENST00000449742.2																			0				ovary(1)	1						c.(1168-1170)Cgg>Tgg		tripartite motif containing 10							43.0	32.0	36.0					6																	30122024		1510	2707	4217	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30122024G>A	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.1168C>T	6.37:g.30122024G>A	ENSP00000397073:p.Arg390Trp					TRIM10_ENST00000376704.3_Intron	p.R390W	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN			7	1243	-			390			B30.2/SPRY.		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.1168C>T	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752583	0.31046	.	.	ENSG00000204613	ENST00000449742;ENST00000376706	T	0.68903	-0.36	5.49	0.094	0.14479	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.52532	D	0.000065	T	0.80783	0.4689	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85978	0.1481	10	0.87932	D	0	.	15.6655	0.77227	0.0:0.0:0.2445:0.7555	.	390	Q9UDY6	TRI10_HUMAN	W	390	ENSP00000397073:R390W	ENSP00000365896:R390W	R	-	1	2	TRIM10	30230003	0.015000	0.18098	0.003000	0.11579	0.042000	0.13812	0.172000	0.16704	-0.179000	0.10654	0.643000	0.83706	CGG		0.677	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			10	52	0	0	0	1	0	10	52				
CHL1	10752	broad.mit.edu	37	3	407773	407773	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:407773G>C	ENST00000256509.2	+	15	2368	c.1726G>C	c.(1726-1728)Gaa>Caa	p.E576Q	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.E560Q|CHL1-AS1_ENST00000608098.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGAAGCCTTTGAAATTAATGG	0.353																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(1726-1728)Gaa>Caa		cell adhesion molecule L1-like							117.0	113.0	114.0					3																	407773		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:407773G>C	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1726G>C	3.37:g.407773G>C	ENSP00000256509:p.Glu576Gln					CHL1_ENST00000397491.2_Missense_Mutation_p.E560Q|CHL1-AS1_ENST00000417612.1_RNA	p.E576Q	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	15	2368	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	560			Ig-like C2-type 6.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.1726G>C	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	8.240	0.806702	0.16467	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.12984	2.63;2.63	5.18	5.18	0.71444	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.350542	0.28436	N	0.015345	T	0.12475	0.0303	L	0.36672	1.1	0.09310	N	1	B;B;B	0.28933	0.01;0.025;0.228	B;B;B	0.33339	0.083;0.083;0.162	T	0.23904	-1.0175	10	0.17369	T	0.5	.	13.0257	0.58814	0.0:0.0:0.8392:0.1608	.	560;560;576	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	Q	576;560	ENSP00000256509:E576Q;ENSP00000380628:E560Q	ENSP00000256509:E576Q	E	+	1	0	CHL1	382773	0.812000	0.29077	0.030000	0.17652	0.941000	0.58515	1.685000	0.37659	2.562000	0.86427	0.563000	0.77884	GAA		0.353	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		9	66	0	0	0	1	0	9	66				
PSMA6	5687	broad.mit.edu	37	14	35761690	35761690	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr14:35761690G>A	ENST00000261479.4	+	1	128	c.8G>A	c.(7-9)cGt>cAt	p.R3H	PSMA6_ENST00000553809.1_Missense_Mutation_p.R3H|AL121594.1_ENST00000578587.1_RNA|PSMA6_ENST00000556506.1_Missense_Mutation_p.R3H|KIAA0391_ENST00000557565.1_Intron|PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000540871.1_Intron	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	3					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		AACATGTCCCGTGGTTCCAGC	0.572																																						ENST00000261479.4																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10						c.(7-9)cGt>cAt		proteasome (prosome, macropain) subunit, alpha type, 6							111.0	106.0	107.0					14																	35761690		2203	4300	6503	SO:0001583	missense	5687				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	g.chr14:35761690G>A	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"""Proteasome (prosome, macropain) subunits"""	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.8G>A	14.37:g.35761690G>A	ENSP00000261479:p.Arg3His					PSMA6_ENST00000540871.1_Intron|KIAA0391_ENST00000557565.1_Intron|PSMA6_ENST00000556506.1_Missense_Mutation_p.R3H|PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000553809.1_Missense_Mutation_p.R3H	p.R3H	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	1	128	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		3					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Missense_Mutation	SNP	ENST00000261479.4	37	c.8G>A	CCDS9655.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141534	0.77775	.	.	ENSG00000100902	ENST00000261479;ENST00000553809;ENST00000556506	T;T;T	0.47528	1.43;1.41;0.84	5.96	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.38852	0.1056	L	0.60455	1.87	0.80722	D	1	P	0.44816	0.844	B	0.28784	0.094	T	0.46289	-0.9202	10	0.66056	D	0.02	-0.923	13.3158	0.60407	0.0738:0.0:0.9262:0.0	.	3	P60900	PSA6_HUMAN	H	3	ENSP00000261479:R3H;ENSP00000452603:R3H;ENSP00000450528:R3H	ENSP00000261479:R3H	R	+	2	0	PSMA6	34831441	1.000000	0.71417	0.969000	0.41365	0.917000	0.54804	7.675000	0.84002	1.529000	0.49120	-0.150000	0.13652	CGT		0.572	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			37	127	0	0	0	1	0	37	127				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		7	78	0	0	0	1	0	7	78				
ZNF615	284370	broad.mit.edu	37	19	52496176	52496176	+	Missense_Mutation	SNP	G	G	A	rs181711461	byFrequency	TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:52496176G>A	ENST00000602063.1	-	6	2502	c.2153C>T	c.(2152-2154)gCg>gTg	p.A718V	ZNF615_ENST00000376716.5_Missense_Mutation_p.A718V|ZNF615_ENST00000391795.3_Missense_Mutation_p.A723V|ZNF615_ENST00000598071.1_Missense_Mutation_p.A729V|ZNF615_ENST00000594083.1_Missense_Mutation_p.A729V			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	718					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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AGACAAGTGCGCAAAAGCTTT	0.438													G|||	6	0.00119808	0.0	0.0029	5008	,	,		19283	0.004		0.0	False		,,,				2504	0.0					ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(2152-2154)gCg>gTg		zinc finger protein 615							177.0	180.0	179.0					19																	52496176		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496176G>A	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.2153C>T	19.37:g.52496176G>A	ENSP00000473089:p.Ala718Val					ZNF615_ENST00000391795.3_Missense_Mutation_p.A723V|ZNF615_ENST00000376716.5_Missense_Mutation_p.A718V|ZNF615_ENST00000594083.1_Missense_Mutation_p.A729V|ZNF615_ENST00000598071.1_Missense_Mutation_p.A729V	p.A718V			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	2502	-		all_neural(266;0.117)	718					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.2153C>T	CCDS12846.1	3	0.0013736263736263737	0	0.0	2	0.0055248618784530384	1	0.0017482517482517483	0	0.0	G	10.96	1.499612	0.26861	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.04156	3.69;3.69	3.39	0.066	0.14359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02047	0.0064	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.21753	0.06;0.048;0.048;0.06	B;B;B;B	0.12156	0.007;0.004;0.004;0.007	T	0.48269	-0.9050	9	0.10111	T	0.7	.	5.1987	0.15252	0.5192:0.0:0.4808:0.0	.	723;725;729;718	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	V	718;728;723;672	ENSP00000365906:A718V;ENSP00000375672:A723V	ENSP00000347019:A728V	A	-	2	0	ZNF615	57187988	0.000000	0.05858	0.177000	0.23020	0.904000	0.53231	-0.449000	0.06812	0.239000	0.21243	0.655000	0.94253	GCG		0.438	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		4	197	0	0	0	1	0	4	197				
ARNT2	9915	broad.mit.edu	37	15	80743272	80743272	+	Missense_Mutation	SNP	C	C	T	rs138280339		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr15:80743272C>T	ENST00000303329.4	+	2	248	c.83C>T	c.(82-84)gCg>gTg	p.A28V	ARNT2_ENST00000533983.1_Missense_Mutation_p.A17V|ARNT2_ENST00000527771.1_Missense_Mutation_p.A17V	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	28				A -> V (in Ref. 4; BX647212). {ECO:0000305}.	central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GCCCCCATGGCGGCCACCGGA	0.567																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(49-51)gCg>gTg		aryl-hydrocarbon receptor nuclear translocator 2		C	VAL/ALA	0,4406		0,0,2203	102.0	102.0	102.0		83	4.9	1.0	15	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARNT2	NM_014862.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	28/718	80743272	1,13005	2203	4300	6503	SO:0001583	missense	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80743272C>T	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.83C>T	15.37:g.80743272C>T	ENSP00000307479:p.Ala28Val					ARNT2_ENST00000303329.4_Missense_Mutation_p.A28V|ARNT2_ENST00000527771.1_Missense_Mutation_p.A17V	p.A17V			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		3	389	+			28					B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	c.50C>T	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677007	0.29783	0.0	1.16E-4	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.05717	3.4	4.88	4.88	0.63580	.	0.538618	0.18277	N	0.146140	T	0.04003	0.0112	N	0.08118	0	0.47698	D	0.999498	P;P	0.44429	0.835;0.693	B;B	0.34346	0.139;0.18	T	0.56878	-0.7906	10	0.41790	T	0.15	.	18.0228	0.89260	0.0:1.0:0.0:0.0	.	28;28	Q9HBZ2;Q86TN1	ARNT2_HUMAN;.	V	17;28;28	ENSP00000307479:A28V	ENSP00000307479:A28V	A	+	2	0	ARNT2	78530327	0.995000	0.38212	1.000000	0.80357	0.848000	0.48234	3.507000	0.53371	2.264000	0.75181	0.467000	0.42956	GCG		0.567	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			5	281	0	0	0	1	0	5	281				
PCDHB7	56129	broad.mit.edu	37	5	140553994	140553994	+	Silent	SNP	G	G	T	rs374392843		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A526A(1)		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)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		16269	0.0		0.001	False		,,,				2504	0.0					ENST00000231137.3																			1	Substitution - coding silent(1)	p.A526A(1)	lung(1)	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.(1576-1578)gcG>gcT									62.0	68.0	66.0					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553994G>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.1578G>T	5.37:g.140553994G>T							p.A526A	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1752	+			526			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1578G>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		4	233	1	0	5.18039e-06	1	5.63852e-06	4	233				
FOXM1	2305	broad.mit.edu	37	12	2968077	2968077	+	Silent	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:2968077C>T	ENST00000359843.3	-	9	2087	c.2019G>A	c.(2017-2019)ccG>ccA	p.P673P	Y_RNA_ENST00000410561.1_RNA|FOXM1_ENST00000361953.3_Silent_p.P658P|ITFG2_ENST00000545509.1_Intron|AC005841.1_ENST00000382678.3_5'Flank|FOXM1_ENST00000342628.2_Silent_p.P711P	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	673			P -> L (in dbSNP:rs28919870). {ECO:0000269|Ref.3}.		cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGAGCCTTTGCGGTGATTCAA	0.592																																						ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(2131-2133)ccG>ccA		forkhead box M1							46.0	51.0	49.0					12																	2968077		2203	4300	6503	SO:0001819	synonymous_variant	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2968077C>T	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.2019G>A	12.37:g.2968077C>T						FOXM1_ENST00000361953.3_Silent_p.P658P|FOXM1_ENST00000359843.3_Silent_p.P673P|ITFG2_ENST00000545509.1_Intron	p.P711P	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		10	2246	-			673					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	c.2133G>A	CCDS8515.1																																																																																				0.592	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		4	134	0	0	0	1	0	4	134				
BMS1P20	96610	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T	rs376271028		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr22:22664115A>T	ENST00000426066.1	+	0	638					NR_027293.1				BMS1 pseudogene 20																		TGTTTAATTCAGCCTTGGAAG	0.413																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664115A>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664115A>T								NR_027293.1						0	638	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.413	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	124	0	0	0	1	0	4	124				
PSMD13	5719	broad.mit.edu	37	11	250804	250804	+	Splice_Site	SNP	C	C	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr11:250804C>G	ENST00000532097.1	+	10	1280	c.776C>G	c.(775-777)cCt>cGt	p.P259R	PSMD13_ENST00000352303.5_Splice_Site_p.P259R|PSMD13_ENST00000431206.2_Splice_Site_p.P261R	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	259	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|meiosis I (GO:0007127)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		ACTTTACAGCCTGATTTAGCA	0.423											OREG0020657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000532097.1																			0				NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10						c.e10-1		proteasome (prosome, macropain) 26S subunit, non-ATPase, 13							115.0	105.0	109.0					11																	250804		2203	4300	6503	SO:0001630	splice_region_variant	5719				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr11:250804C>G	AB009398	CCDS7692.1, CCDS44504.1	11p15.5	2008-05-22			ENSG00000185627	ENSG00000185627		"""Proteasome (prosome, macropain) subunits"""	9558	protein-coding gene	gene with protein product		603481				9714768, 8811196	Standard	NM_002817		Approved	p40.5, Rpn9	uc001loo.2	Q9UNM6	OTTHUMG00000119072	ENST00000532097.1:c.775-1C>G	11.37:g.250804C>G			OREG0020657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	586	PSMD13_ENST00000431206.2_Splice_Site_p.P261_splice|PSMD13_ENST00000352303.5_Splice_Site_p.P259_splice	p.P259_splice	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)	10	1280	+		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	259			PCI.		B3KT15|O75831|Q53XU2|Q9UNV3	Splice_Site	SNP	ENST00000532097.1	37	c.774_splice	CCDS7692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.536139|4.536139	0.85812|0.85812	.|.	.|.	ENSG00000185627|ENSG00000185627	ENST00000526783|ENST00000532097;ENST00000538343;ENST00000431206;ENST00000528906;ENST00000352303	.|T;T;T;T	.|0.30981	.|1.51;1.51;2.04;1.99	5.3|5.3	5.3|5.3	0.74995|0.74995	.|Proteasome component (PCI) domain (1);	.|0.053893	.|0.85682	.|D	.|0.000000	T|T	0.64327|0.64327	0.2588|0.2588	M|M	0.90705|0.90705	3.14|3.14	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.989;0.99;0.99	.|D;D;D;D	.|0.79108	.|0.992;0.966;0.95;0.95	T|T	0.69658|0.69658	-0.5086|-0.5086	5|10	.|0.56958	.|D	.|0.05	.|.	18.4173|18.4173	0.90575|0.90575	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|261;194;259;259	.|Q9UNM6-2;B4DJ66;B2RBM7;Q9UNM6	.|.;.;.;PSD13_HUMAN	V|R	170|259;194;261;221;259	.|ENSP00000436186:P259R;ENSP00000396937:P261R;ENSP00000433364:P221R;ENSP00000333811:P259R	.|ENSP00000333811:P259R	L|P	+|+	1|2	2|0	PSMD13|PSMD13	240804|240804	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.441000|7.441000	0.80485|0.80485	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.423	PSMD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239286.2	NM_002817	Missense_Mutation	20	59	0	0	0	1	0	20	59				
DAPK1	1612	broad.mit.edu	37	9	90313650	90313650	+	Silent	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:90313650G>T	ENST00000408954.3	+	23	3026	c.2691G>T	c.(2689-2691)ccG>ccT	p.P897P	DAPK1_ENST00000472284.1_Silent_p.P897P|DAPK1_ENST00000469640.2_Silent_p.P897P|DAPK1_ENST00000358077.5_Silent_p.P897P|DAPK1_ENST00000491893.1_Silent_p.P831P	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	897					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TTCCTCGACCGGCTGGAGGCG	0.562									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(2689-2691)ccG>ccT		death-associated protein kinase 1							55.0	61.0	59.0					9																	90313650		2175	4264	6439	SO:0001819	synonymous_variant	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90313650G>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2691G>T	9.37:g.90313650G>T						DAPK1_ENST00000408954.3_Silent_p.P897P|DAPK1_ENST00000358077.5_Silent_p.P897P|DAPK1_ENST00000491893.1_Silent_p.P831P|DAPK1_ENST00000472284.1_Silent_p.P897P	p.P897P			P53355	DAPK1_HUMAN			23	3066	+			897					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	c.2691G>T	CCDS43842.1																																																																																				0.562	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		5	73	1	0	0.0293803	1	0.0295651	5	73				
SLC22A10	387775	broad.mit.edu	37	11	63057996	63057996	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr11:63057996G>T	ENST00000332793.6	+	1	361	c.359G>T	c.(358-360)tGg>tTg	p.W120L	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Missense_Mutation_p.W68L|SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000525620.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	120						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	GTGGATGGCTGGGTATATGAT	0.473																																						ENST00000332793.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(358-360)tGg>tTg		solute carrier family 22, member 10							99.0	105.0	103.0					11																	63057996		2201	4298	6499	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63057996G>T	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.359G>T	11.37:g.63057996G>T	ENSP00000327569:p.Trp120Leu					SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000526800.1_Missense_Mutation_p.W68L|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	p.W120L	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN			1	361	+			120					Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.359G>T	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143406	0.57044	.	.	ENSG00000184999	ENST00000332793;ENST00000526800	D;D	0.84442	-1.85;-1.85	2.68	2.68	0.31781	Major facilitator superfamily domain (1);	0.000000	0.85682	U	0.000000	D	0.94551	0.8245	H	0.97940	4.11	0.80722	D	1	P;D	0.89917	0.612;1.0	B;D	0.97110	0.247;1.0	D	0.95155	0.8276	10	0.87932	D	0	.	11.2649	0.49104	0.0:0.0:1.0:0.0	.	68;120	E9PJB1;Q63ZE4	.;S22AA_HUMAN	L	120;68	ENSP00000327569:W120L;ENSP00000433908:W68L	ENSP00000327569:W120L	W	+	2	0	SLC22A10	62814572	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	4.670000	0.61583	1.546000	0.49388	0.579000	0.79373	TGG		0.473	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		34	99	1	0	2.68265e-12	1	3.06589e-12	34	99				
ZNF416	55659	broad.mit.edu	37	19	58083969	58083969	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:58083969C>T	ENST00000196489.3	-	4	1525	c.1303G>A	c.(1303-1305)Gct>Act	p.A435T		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A435S(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AAGGGCCTAGCTCCACTGTGA	0.458																																						ENST00000196489.3																			1	Substitution - Missense(1)	p.A435S(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(1303-1305)Gct>Act		zinc finger protein 416							104.0	95.0	98.0					19																	58083969		2203	4300	6503	SO:0001583	missense	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58083969C>T	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.1303G>A	19.37:g.58083969C>T	ENSP00000196489:p.Ala435Thr						p.A435T	NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	1525	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	435					Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	c.1303G>A	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624391	0.46840	.	.	ENSG00000083817	ENST00000196489;ENST00000428052	T	0.17213	2.29	3.42	3.42	0.39159	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12774	0.0310	N	0.14661	0.345	0.31450	N	0.6709	B	0.28820	0.224	B	0.31495	0.131	T	0.13710	-1.0499	9	0.87932	D	0	.	14.1109	0.65121	0.0:1.0:0.0:0.0	.	435	Q9BWM5	ZN416_HUMAN	T	435;333	ENSP00000196489:A435T	ENSP00000196489:A435T	A	-	1	0	ZNF416	62775781	0.021000	0.18746	0.038000	0.18304	0.571000	0.35966	2.900000	0.48687	1.913000	0.55393	0.655000	0.94253	GCT		0.458	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		10	102	0	0	0	1	0	10	102				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			645528							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		4	78	0	0	0	1	0	4	78				
ERO1LB	56605	broad.mit.edu	37	1	236389816	236389816	+	Splice_Site	SNP	C	C	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:236389816C>G	ENST00000354619.5	-	12	1007		c.e12-1			NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)						4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	CCCCAGGTTTCTAAAGAGAAA	0.358																																						ENST00000354619.5																			0				NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23						c.e12-1		ERO1-like beta (S. cerevisiae)							49.0	50.0	49.0					1																	236389816		2198	4288	6486	SO:0001630	splice_region_variant	56605				electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	g.chr1:236389816C>G	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.806-1G>C	1.37:g.236389816C>G								NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		12	1007	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)						B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Splice_Site	SNP	ENST00000354619.5	37		CCDS31064.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.685048	0.68157	.	.	ENSG00000086619	ENST00000354619	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2167	0.93781	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ERO1LB	234456439	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.464000	0.80887	2.609000	0.88269	0.579000	0.79373	.		0.358	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891	Intron	9	57	0	0	0	1	0	9	57				
PYGB	5834	broad.mit.edu	37	20	25255257	25255257	+	Silent	SNP	C	C	T	rs199968470		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr20:25255257C>T	ENST00000216962.4	+	5	668	c.558C>T	c.(556-558)taC>taT	p.Y186Y		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	186					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GGCTGCGCTACGGCAACCCCT	0.647																																						ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(556-558)taC>taT		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)						71.0	71.0	71.0					20																	25255257		2203	4300	6503	SO:0001819	synonymous_variant	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25255257C>T		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.558C>T	20.37:g.25255257C>T							p.Y186Y	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			5	668	+			186					Q96AK1|Q9NPX8	Silent	SNP	ENST00000216962.4	37	c.558C>T	CCDS13171.1																																																																																				0.647	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		4	162	0	0	0	1	0	4	162				
COLEC12	81035	broad.mit.edu	37	18	321680	321680	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr18:321680C>T	ENST00000400256.3	-	9	2398	c.2191G>A	c.(2191-2193)Gaa>Aaa	p.E731K	RP11-720L2.4_ENST00000580756.1_lincRNA	NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	731	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CTGTCTTTTTCGCAAATGAAG	0.512																																						ENST00000400256.3																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(2191-2193)Gaa>Aaa		collectin sub-family member 12							331.0	329.0	330.0					18																	321680		2203	4300	6503	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:321680C>T	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.2191G>A	18.37:g.321680C>T	ENSP00000383115:p.Glu731Lys						p.E731K	NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN			9	2398	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	731			C-type lectin.		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.2191G>A	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667169	0.88251	.	.	ENSG00000158270	ENST00000400256	T	0.19806	2.12	5.68	5.68	0.88126	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.054602	0.64402	D	0.000001	T	0.42562	0.1208	L	0.42487	1.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.18650	-1.0330	10	0.87932	D	0	-25.9174	19.786	0.96437	0.0:1.0:0.0:0.0	.	731	Q5KU26	COL12_HUMAN	K	731	ENSP00000383115:E731K	ENSP00000383115:E731K	E	-	1	0	COLEC12	311680	1.000000	0.71417	0.961000	0.40146	0.954000	0.61252	5.499000	0.66937	2.676000	0.91093	0.563000	0.77884	GAA		0.512	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			59	434	0	0	0	1	0	59	434				
RBFOX1	54715	broad.mit.edu	37	16	7703829	7703829	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr16:7703829C>T	ENST00000550418.1	+	12	1758	c.770C>T	c.(769-771)cCg>cTg	p.P257L	RBFOX1_ENST00000553186.1_Missense_Mutation_p.P230L|RBFOX1_ENST00000547338.1_Missense_Mutation_p.P257L|RBFOX1_ENST00000547372.1_Missense_Mutation_p.P300L|RBFOX1_ENST00000552089.1_Missense_Mutation_p.P274L|RBFOX1_ENST00000436368.2_Missense_Mutation_p.P277L|RBFOX1_ENST00000340209.4_Missense_Mutation_p.P262L|RBFOX1_ENST00000422070.4_Missense_Mutation_p.P300L|RBFOX1_ENST00000311745.5_Missense_Mutation_p.P277L|RBFOX1_ENST00000355637.4_Missense_Mutation_p.P277L|RBFOX1_ENST00000535565.2_Missense_Mutation_p.P214L	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	257					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCAGGCTTCCCGTATCCAGCA	0.701																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(784-786)cCg>cTg		RNA binding protein, fox-1 homolog (C. elegans) 1							14.0	18.0	17.0					16																	7703829		1835	3811	5646	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7703829C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.770C>T	16.37:g.7703829C>T	ENSP00000450031:p.Pro257Leu					RBFOX1_ENST00000436368.2_Missense_Mutation_p.P277L|RBFOX1_ENST00000550418.1_Missense_Mutation_p.P257L|RBFOX1_ENST00000552089.1_Missense_Mutation_p.P274L|RBFOX1_ENST00000311745.5_Missense_Mutation_p.P277L|RBFOX1_ENST00000553186.1_Missense_Mutation_p.P230L|RBFOX1_ENST00000422070.4_Missense_Mutation_p.P300L|RBFOX1_ENST00000547372.1_Missense_Mutation_p.P300L|RBFOX1_ENST00000355637.4_Missense_Mutation_p.P277L|RBFOX1_ENST00000535565.2_Missense_Mutation_p.P214L|RBFOX1_ENST00000547338.1_Missense_Mutation_p.P257L	p.P262L			Q9NWB1	RFOX1_HUMAN			9	1082	+			257					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.785C>T	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	c	25.8	4.676257	0.88445	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.39229	1.7;1.1;1.43;1.37;1.34;1.59;1.1;1.21;1.31;1.33;1.09	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.63534	0.2519	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.965;0.989;0.997;0.994;1.0;1.0	T	0.69057	-0.5246	10	0.72032	D	0.01	-7.3027	17.0732	0.86580	0.0:1.0:0.0:0.0	.	250;214;300;277;277;277;230;257;300	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	L	256;257;230;300;300;214;274;257;257;277;277;277;250;262	ENSP00000450402:P256L;ENSP00000450031:P257L;ENSP00000447753:P230L;ENSP00000446842:P300L;ENSP00000391269:P300L;ENSP00000447281:P257L;ENSP00000447717:P257L;ENSP00000402745:P277L;ENSP00000309117:P277L;ENSP00000347855:P277L;ENSP00000344196:P262L	ENSP00000309117:P277L	P	+	2	0	RBFOX1	7643830	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.553000	0.82203	2.071000	0.62044	0.401000	0.26515	CCG		0.701	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		4	92	0	0	0	1	0	4	92				
LILRB1	10859	broad.mit.edu	37	19	55146195	55146195	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:55146195G>T	ENST00000396331.1	+	11	1821	c.1464G>T	c.(1462-1464)caG>caT	p.Q488H	LILRB1_ENST00000396317.1_Missense_Mutation_p.Q472H|LILRB1_ENST00000418536.2_Missense_Mutation_p.Q472H|LILRB1_ENST00000396327.3_Missense_Mutation_p.Q489H|LILRB1_ENST00000448689.1_Missense_Mutation_p.Q488H|LILRB1_ENST00000396315.1_Missense_Mutation_p.Q489H|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000434867.2_Missense_Mutation_p.Q488H|LILRB1_ENST00000396321.2_Missense_Mutation_p.Q488H|LILRB1_ENST00000396332.4_Missense_Mutation_p.Q488H|LILRB1_ENST00000324602.7_Missense_Mutation_p.Q489H|LILRB1_ENST00000427581.2_Missense_Mutation_p.Q538H	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	488					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ATCGACGTCAGGGCAAACACT	0.607										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1462-1464)caG>caT		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							131.0	121.0	124.0					19																	55146195		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146195G>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1464G>T	19.37:g.55146195G>T	ENSP00000379622:p.Gln488His	HNSCC(37;0.09)				LILRB1_ENST00000396327.3_Missense_Mutation_p.Q489H|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.Q488H|LILRB1_ENST00000448689.1_Missense_Mutation_p.Q488H|LILRB1_ENST00000396332.4_Missense_Mutation_p.Q488H|LILRB1_ENST00000427581.2_Missense_Mutation_p.Q538H|LILRB1_ENST00000396315.1_Missense_Mutation_p.Q489H|LILRB1_ENST00000396317.1_Missense_Mutation_p.Q472H|LILRB1_ENST00000418536.2_Missense_Mutation_p.Q472H|LILRB1_ENST00000434867.2_Missense_Mutation_p.Q488H|LILRB1_ENST00000324602.7_Missense_Mutation_p.Q489H	p.Q488H	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	11	1821	+			488					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1464G>T	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	4.310	0.056739	0.08339	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.00523	6.96;6.96;6.88;6.96;6.93;6.92;6.96;6.96;6.83;6.96;6.92	1.81	1.81	0.25067	.	2.264940	0.02795	U	0.122527	T	0.00580	0.0019	L	0.45470	1.425	0.09310	N	1	B;B;B;B;B;B	0.17667	0.001;0.001;0.005;0.001;0.023;0.003	B;B;B;B;B;B	0.23419	0.002;0.002;0.009;0.003;0.046;0.006	T	0.48139	-0.9061	10	0.42905	T	0.14	.	7.0854	0.25254	0.0:0.0:1.0:0.0	.	472;488;489;488;489;488	A8MVE2;D9IDM5;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;.;LIRB1_HUMAN	H	488;472;488;488;489;489;488;488;538;472;489	ENSP00000379614:Q488H;ENSP00000391514:Q472H;ENSP00000409968:Q488H;ENSP00000379622:Q488H;ENSP00000379618:Q489H;ENSP00000315997:Q489H;ENSP00000405243:Q488H;ENSP00000379623:Q488H;ENSP00000395004:Q538H;ENSP00000379610:Q472H;ENSP00000379608:Q489H	ENSP00000315997:Q489H	Q	+	3	2	LILRB1	59838007	0.000000	0.05858	0.007000	0.13788	0.032000	0.12392	0.001000	0.13038	1.321000	0.45227	0.205000	0.17691	CAG		0.607	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			5	270	1	0	1.23904e-05	1	1.32164e-05	5	270				
GSTA1	2938	broad.mit.edu	37	6	52659006	52659006	+	Missense_Mutation	SNP	C	C	T	rs1051733		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr6:52659006C>T	ENST00000334575.5	-	5	486	c.331G>A	c.(331-333)Gta>Ata	p.V111I	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	111	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	GGTGGACATACGGGCAGAAGG	0.393													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19385	0.0		0.0	False		,,,				2504	0.0					ENST00000334575.5																			0				large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(331-333)Gta>Ata		glutathione S-transferase alpha 1	Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	C	ILE/VAL	0,4406		0,0,2203	187.0	178.0	181.0		331	-5.2	0.0	6	dbSNP_86	181	1,8599		0,1,4299	no	missense	GSTA1	NM_145740.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	111/223	52659006	1,13005	2203	4300	6503	SO:0001583	missense	2938				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52659006C>T		CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4626	protein-coding gene	gene with protein product		138359	"""glutathione S-transferase A1"""			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.331G>A	6.37:g.52659006C>T	ENSP00000335620:p.Val111Ile					GSTA1_ENST00000493331.1_5'UTR	p.V111I	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN			5	486	-	Lung NSC(77;0.118)		111			GST C-terminal.		Q14750|Q5GHF8|Q5SZC1	Missense_Mutation	SNP	ENST00000334575.5	37	c.331G>A	CCDS4945.1	.	.	.	.	.	.	.	.	.	.	N	0.058	-1.230832	0.01518	0.0	1.16E-4	ENSG00000243955	ENST00000334575	T	0.12255	2.7	2.58	-5.17	0.02849	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	1.065940	0.07308	N	0.875388	T	0.00815	0.0027	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40156	-0.9578	10	0.45353	T	0.12	.	0.3635	0.00368	0.3254:0.2393:0.2262:0.2091	.	111	P08263	GSTA1_HUMAN	I	111	ENSP00000335620:V111I	ENSP00000335620:V111I	V	-	1	0	GSTA1	52766965	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.587000	0.00422	-4.574000	0.00041	-3.377000	0.00040	GTA		0.393	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1			4	196	0	0	0	1	0	4	196				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		7	71	0	0	0	1	0	7	71				
CP	1356	broad.mit.edu	37	3	148916152	148916152	+	Splice_Site	SNP	A	A	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr3:148916152A>C	ENST00000264613.6	-	9	1976		c.e9+1		CP_ENST00000462336.1_Splice_Site	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)						cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AGTTGGACTTACCTGTCTCCC	0.333																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.e9+1		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						89.0	84.0	86.0					3																	148916152		2203	4300	6503	SO:0001630	splice_region_variant	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148916152A>C	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1713+1T>G	3.37:g.148916152A>C						CP_ENST00000462336.1_Splice_Site		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		9	1976	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)						Q14063|Q2PP18|Q9UKS4	Splice_Site	SNP	ENST00000264613.6	37		CCDS3141.1	.	.	.	.	.	.	.	.	.	.	A	15.48	2.846868	0.51164	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	.	.	.	5.46	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8202	0.40878	0.922:0.0:0.078:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CP	150398842	1.000000	0.71417	0.976000	0.42696	0.795000	0.44927	7.090000	0.76916	0.920000	0.36970	0.528000	0.53228	.		0.333	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096	Intron	7	56	0	0	0	1	0	7	56				
CSMD1	64478	broad.mit.edu	37	8	3081280	3081280	+	Silent	SNP	C	C	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr8:3081280C>T	ENST00000520002.1	-	29	5013	c.4458G>A	c.(4456-4458)ccG>ccA	p.P1486P	CSMD1_ENST00000400186.3_Silent_p.P1486P|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Silent_p.P1486P|CSMD1_ENST00000539096.1_Silent_p.P1485P|CSMD1_ENST00000542608.1_Silent_p.P1485P|CSMD1_ENST00000602723.1_Silent_p.P1486P|CSMD1_ENST00000537824.1_Silent_p.P1485P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1486	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGACAAAGTCCGGGTTCACTT	0.428																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(4456-4458)ccG>ccA		CUB and Sushi multiple domains 1							106.0	106.0	106.0					8																	3081280		1860	4089	5949	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3081280C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4458G>A	8.37:g.3081280C>T						CSMD1_ENST00000400186.3_Silent_p.P1486P|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Silent_p.P1486P|CSMD1_ENST00000602557.1_Silent_p.P1486P|CSMD1_ENST00000542608.1_Silent_p.P1485P|CSMD1_ENST00000539096.1_Silent_p.P1485P|CSMD1_ENST00000537824.1_Silent_p.P1485P	p.P1486P			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	29	5013	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1486			CUB 9.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.4458G>A		.	.	.	.	.	.	.	.	.	.	C	7.260	0.604948	0.14002	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.08	-10.2	0.00374	.	.	.	.	.	T	0.41834	0.1176	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57154	-0.7860	4	.	.	.	.	4.5743	0.12225	0.1622:0.4354:0.2379:0.1645	.	.	.	.	R	966	.	.	G	-	1	0	CSMD1	3068687	0.000000	0.05858	0.034000	0.17996	0.970000	0.65996	-4.813000	0.00182	-4.420000	0.00050	-1.095000	0.02154	GGA		0.428	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		17	95	0	0	0	1	0	17	95				
ZMAT2	153527	broad.mit.edu	37	5	140084081	140084081	+	Silent	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr5:140084081G>A	ENST00000274712.3	+	5	508	c.381G>A	c.(379-381)gaG>gaA	p.E127E		NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2	127						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGTTTTGAGGTCAACAAGA	0.473																																						ENST00000274712.3																			0				breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8						c.(379-381)gaG>gaA		zinc finger, matrin-type 2							186.0	179.0	181.0					5																	140084081		2203	4300	6503	SO:0001819	synonymous_variant	153527					nucleus	DNA binding|zinc ion binding	g.chr5:140084081G>A	AK055683	CCDS4239.1	5q31	2012-10-05	2010-09-15		ENSG00000146007	ENSG00000146007		"""Zinc fingers, matrin-type"""	26433	protein-coding gene	gene with protein product						12477932	Standard	NM_144723		Approved	FLJ31121, hSNU23, Snu23	uc003lgy.1	Q96NC0	OTTHUMG00000129503	ENST00000274712.3:c.381G>A	5.37:g.140084081G>A							p.E127E	NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	508	+			127						Silent	SNP	ENST00000274712.3	37	c.381G>A	CCDS4239.1																																																																																				0.473	ZMAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468143.1	NM_144723		4	110	0	0	0	1	0	4	110				
MSH4	4438	broad.mit.edu	37	1	76355039	76355039	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:76355039G>A	ENST00000263187.3	+	16	2315	c.2211G>A	c.(2209-2211)atG>atA	p.M737I		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	737					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CAACATTTATGAAAGAAATGA	0.269								Mismatch excision repair (MMR)																														ENST00000263187.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(2209-2211)atG>atA	Mismatch excision repair (MMR)	mutS homolog 4							51.0	58.0	56.0					1																	76355039		2188	4257	6445	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76355039G>A	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.2211G>A	1.37:g.76355039G>A	ENSP00000263187:p.Met737Ile						p.M737I	NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN			16	2315	+			737					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.2211G>A	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650518	0.67472	.	.	ENSG00000057468	ENST00000263187	D	0.85629	-2.01	5.31	5.31	0.75309	DNA mismatch repair protein MutS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.89904	0.6850	H	0.96111	3.77	0.58432	D	0.999997	B	0.29766	0.256	B	0.35859	0.212	D	0.90833	0.4718	10	0.87932	D	0	-11.3165	18.9808	0.92755	0.0:0.0:1.0:0.0	.	737	O15457	MSH4_HUMAN	I	737	ENSP00000263187:M737I	ENSP00000263187:M737I	M	+	3	0	MSH4	76127627	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.471000	0.97696	2.495000	0.84180	0.650000	0.86243	ATG		0.269	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		8	46	0	0	0	1	0	8	46				
SLC22A15	55356	broad.mit.edu	37	1	116577905	116577905	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:116577905A>T	ENST00000369503.4	+	7	1172	c.1042A>T	c.(1042-1044)Att>Ttt	p.I348F	SLC22A15_ENST00000481127.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	348					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCTCATAGAGATTCCATCTTA	0.443																																						ENST00000369503.4																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17						c.(1042-1044)Att>Ttt		solute carrier family 22, member 15							131.0	124.0	126.0					1																	116577905		1925	4148	6073	SO:0001583	missense	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116577905A>T	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.1042A>T	1.37:g.116577905A>T	ENSP00000358515:p.Ile348Phe					SLC22A15_ENST00000481127.1_3'UTR	p.I348F	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	7	1172	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	348					A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	c.1042A>T	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.206429	0.39003	.	.	ENSG00000163393	ENST00000369503	T	0.71934	-0.61	5.76	4.64	0.57946	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.129179	0.51477	D	0.000092	T	0.39989	0.1099	L	0.33624	1.015	0.80722	D	1	B	0.16603	0.018	B	0.23018	0.043	T	0.37888	-0.9686	10	0.23891	T	0.37	.	7.2749	0.26279	0.7808:0.1464:0.0727:0.0	.	348	Q8IZD6	S22AF_HUMAN	F	348	ENSP00000358515:I348F	ENSP00000358515:I348F	I	+	1	0	SLC22A15	116379428	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.558000	0.45879	2.198000	0.70561	0.528000	0.53228	ATT		0.443	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		5	60	0	0	0	1	0	5	60				
SLC9A7P1	121456	broad.mit.edu	37	12	98848918	98848918	+	RNA	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:98848918G>T	ENST00000554295.1	-	0	2005					NR_033801.1				solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 pseudogene 1																		GTACACCTGGGGACTGGTCAG	0.547																																						ENST00000554295.1																			0																																																			121456							g.chr12:98848918G>T			12q23.1	2013-05-22	2012-03-22		ENSG00000227825	ENSG00000227825		"""Solute carriers"""	32679	pseudogene	pseudogene			"""solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1"""				Standard	NR_033801		Approved		uc009ztm.2		OTTHUMG00000170629		12.37:g.98848918G>T								NR_033801.1						0	2005	-									RNA	SNP	ENST00000554295.1	37																																																																																						0.547	SLC9A7P1-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000409869.1			5	16	1	0	0.00116845	1	0.00118324	5	16				
IKZF3	22806	broad.mit.edu	37	17	37947745	37947745	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:37947745T>G	ENST00000346872.3	-	5	577	c.516A>C	c.(514-516)aaA>aaC	p.K172N	IKZF3_ENST00000377958.2_Missense_Mutation_p.K85N|IKZF3_ENST00000351680.3_Missense_Mutation_p.K172N|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000350532.3_Missense_Mutation_p.K172N|IKZF3_ENST00000439167.2_Missense_Mutation_p.K138N|IKZF3_ENST00000346243.3_Missense_Mutation_p.K172N|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000535189.1_Missense_Mutation_p.K138N|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000467757.1_Intron	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	172					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ACTTAAAAGGTTTTTCCCCTG	0.458																																						ENST00000346872.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(514-516)aaA>aaC		IKAROS family zinc finger 3 (Aiolos)							194.0	179.0	184.0					17																	37947745		2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37947745T>G	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.516A>C	17.37:g.37947745T>G	ENSP00000344544:p.Lys172Asn					IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000535189.1_Missense_Mutation_p.K138N|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000346243.3_Missense_Mutation_p.K172N|IKZF3_ENST00000377958.2_Missense_Mutation_p.K85N|IKZF3_ENST00000350532.3_Missense_Mutation_p.K172N|IKZF3_ENST00000351680.3_Missense_Mutation_p.K172N|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000467757.1_Intron|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000439167.2_Missense_Mutation_p.K138N	p.K172N	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		5	577	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		172					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.516A>C	CCDS11346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.77|18.77	3.694981|3.694981	0.68386|0.68386	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000488188;ENST00000377958;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532|ENST00000439167;ENST00000439016	T;T;T;T;T|T	0.40756|0.22134	1.02;1.76;1.76;1.02;1.76|1.97	5.64|5.64	3.46|3.46	0.39613|0.39613	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.64402|.	D|.	0.000011|.	T|T	0.35941|0.35941	0.0949|0.0949	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	0.973;1.0;1.0;1.0;1.0;1.0;1.0|.	P;D;D;D;D;D;D|.	0.97110|.	0.798;1.0;0.998;1.0;0.999;0.996;1.0|.	T|T	0.04203|0.04203	-1.0969|-1.0969	10|6	0.87932|.	D|.	0|.	-25.4159|-25.4159	8.7314|8.7314	0.34501|0.34501	0.0:0.2128:0.0:0.7872|0.0:0.2128:0.0:0.7872	.|.	85;138;172;172;172;138;172|.	Q9UKT9-9;Q9UKT9-7;Q9UKT9-6;Q9UKT9-4;Q9UKT9-3;Q9UKT9-8;Q9UKT9|.	.;.;.;.;.;.;IKZF3_HUMAN|.	N|T	172;85;138;172;172;172|126	ENSP00000367194:K85N;ENSP00000438972:K138N;ENSP00000345622:K172N;ENSP00000341977:K172N;ENSP00000344471:K172N|ENSP00000403776:N126T	ENSP00000341977:K172N|.	K|N	-|-	3|2	2|0	IKZF3|IKZF3	35201271|35201271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	0.593000|0.593000	0.23999|0.23999	0.531000|0.531000	0.28639|0.28639	0.528000|0.528000	0.53228|0.53228	AAA|AAC		0.458	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		54	144	0	0	0	1	0	54	144				
COL6A2	1292	broad.mit.edu	37	21	47532717	47532717	+	Splice_Site	SNP	G	G	T			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr21:47532717G>T	ENST00000300527.4	+	4	818		c.e4-1		COL6A2_ENST00000460886.1_Splice_Site|COL6A2_ENST00000397763.1_Splice_Site|COL6A2_ENST00000357838.4_Splice_Site|COL6A2_ENST00000310645.5_Splice_Site|COL6A2_ENST00000409416.1_Splice_Site	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTTTTCTGCAGAAACACGAAG	0.642																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.e4-1		collagen, type VI, alpha 2							126.0	98.0	108.0					21																	47532717		2203	4300	6503	SO:0001630	splice_region_variant	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47532717G>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.715-1G>T	21.37:g.47532717G>T						COL6A2_ENST00000409416.1_Splice_Site|COL6A2_ENST00000460886.1_Splice_Site|COL6A2_ENST00000357838.4_Splice_Site|COL6A2_ENST00000397763.1_Splice_Site|COL6A2_ENST00000310645.5_Splice_Site		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	4	818	+	Breast(49;0.245)							Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Splice_Site	SNP	ENST00000300527.4	37		CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569937	0.65765	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	.	.	.	4.0	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4776	0.84136	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL6A2	46357145	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	5.740000	0.68629	1.956000	0.56807	0.462000	0.41574	.		0.642	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1		Intron	13	105	1	0	1.49906e-05	1	1.58841e-05	13	105				
BMS1	9790	broad.mit.edu	37	10	43318571	43318571	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr10:43318571G>A	ENST00000374518.5	+	20	3201	c.3138G>A	c.(3136-3138)atG>atA	p.M1046I		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1046					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.M1046I(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTAGGGAATGTTTAATTCTG	0.393																																						ENST00000374518.4																			1	Substitution - Missense(1)	p.M1046I(1)	endometrium(1)	NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3136-3138)atG>atA		BMS1 ribosome biogenesis factor							74.0	83.0	80.0					10																	43318571		2202	4297	6499	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318571G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3138G>A	10.37:g.43318571G>A	ENSP00000363642:p.Met1046Ile						p.M1046I	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			20	3201	+			1046					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.3138G>A	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485181	0.63962	.	.	ENSG00000165733	ENST00000374518	T	0.26957	1.7	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	M	0.86953	2.85	0.80722	D	1	B	0.14438	0.01	B	0.17433	0.018	T	0.48636	-0.9018	10	0.72032	D	0.01	.	17.7203	0.88349	0.0:0.0:1.0:0.0	.	1046	Q14692	BMS1_HUMAN	I	1046	ENSP00000363642:M1046I	ENSP00000363642:M1046I	M	+	3	0	BMS1	42638577	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.443000	0.97568	2.250000	0.74265	0.454000	0.30748	ATG		0.393	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		5	164	0	0	0	1	0	5	164				
PLEKHA4	57664	broad.mit.edu	37	19	49362197	49362197	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:49362197G>A	ENST00000263265.6	-	8	1447	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C	PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R298C	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	298	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGTCCTCGGCGGGGAGTAGGG	0.662																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(892-894)Cgc>Tgc		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							40.0	46.0	44.0					19																	49362197		2182	4255	6437	SO:0001583	missense	57664					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49362197G>A	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.892C>T	19.37:g.49362197G>A	ENSP00000263265:p.Arg298Cys					PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R298C|PLEKHA4_ENST00000596713.1_5'UTR	p.R298C	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	8	1447	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	298			Pro-rich.		Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.892C>T	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314910	0.81358	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.15952	3.0;2.38	4.78	4.78	0.61160	.	0.122950	0.40222	N	0.001158	T	0.18923	0.0454	L	0.27053	0.805	0.47819	D	0.999526	D;D	0.71674	0.993;0.998	P;P	0.50896	0.653;0.65	T	0.00542	-1.1680	10	0.51188	T	0.08	.	13.5286	0.61609	0.0:0.0:1.0:0.0	.	298;298	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	C	298	ENSP00000263265:R298C;ENSP00000347683:R298C	ENSP00000263265:R298C	R	-	1	0	PLEKHA4	54054009	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	2.199000	0.42715	2.671000	0.90904	0.455000	0.32223	CGC		0.662	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			4	124	0	0	0	1	0	4	124				
EI24	9538	broad.mit.edu	37	11	125453573	125453573	+	Missense_Mutation	SNP	C	C	T	rs568514385		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr11:125453573C>T	ENST00000278903.6	+	12	1257	c.1015C>T	c.(1015-1017)Cac>Tac	p.H339Y	STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000343678.4_3'UTR|EI24_ENST00000530985.1_3'UTR	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	340					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		TACTGCAGGTCACTGAGTTGC	0.592																																						ENST00000278903.6																			0				large_intestine(1)|lung(9)|ovary(1)	11						c.(1015-1017)Cac>Tac		etoposide induced 2.4							25.0	24.0	24.0					11																	125453573		1929	4122	6051	SO:0001583	missense	9538				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		g.chr11:125453573C>T	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 4 homolog (C. elegans)"""	605170	"""etoposide induced 2.4 mRNA"""			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.1015C>T	11.37:g.125453573C>T	ENSP00000278903:p.His339Tyr					EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000343678.4_3'UTR	p.H339Y	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)	12	1257	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	340					A8K7D6|B4DKL6|Q9BUQ1	Missense_Mutation	SNP	ENST00000278903.6	37	c.1015C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.16|13.16	2.153902|2.153902	0.38021|0.38021	.|.	.|.	ENSG00000149547|ENSG00000149547	ENST00000278903|ENST00000526081	.|.	.|.	.|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.132790|.	0.50627|.	D|.	0.000119|.	T|T	0.78349|0.78349	0.4269|0.4269	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P;P|.	0.37663|.	0.604;0.604|.	B;B|.	0.32090|.	0.14;0.14|.	T|T	0.81514|0.81514	-0.0898|-0.0898	8|5	0.87932|0.87932	D|D	0|0	.|.	18.3797|18.3797	0.90446|0.90446	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	326;340|.	B4DKL6;O14681|.	.;EI24_HUMAN|.	Y|L	339|38	.|.	ENSP00000278903:H339Y|ENSP00000437106:S38L	H|S	+|+	1|2	0|0	EI24|EI24	124958783|124958783	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	5.405000|5.405000	0.66351|0.66351	2.440000|2.440000	0.82611|0.82611	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.592	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004879		3	19	0	0	0	1	0	3	19				
EVPL	2125	broad.mit.edu	37	17	74010655	74010655	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr17:74010655T>C	ENST00000301607.3	-	18	2478	c.2225A>G	c.(2224-2226)gAg>gGg	p.E742G	EVPL_ENST00000586740.1_Missense_Mutation_p.E764G	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	742	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CACCACCTTCTCCCTGCAGGA	0.652																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(2224-2226)gAg>gGg		envoplakin							32.0	31.0	32.0					17																	74010655		2202	4300	6502	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74010655T>C	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.2225A>G	17.37:g.74010655T>C	ENSP00000301607:p.Glu742Gly					EVPL_ENST00000586740.1_Missense_Mutation_p.E764G	p.E742G	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			18	2478	-			742			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.2225A>G	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695639	0.68386	.	.	ENSG00000167880	ENST00000301607	T	0.65364	-0.15	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.78020	0.4218	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.89917	0.991;1.0	P;D	0.85130	0.829;0.997	T	0.79878	-0.1617	10	0.59425	D	0.04	-52.6062	14.8591	0.70366	0.0:0.0:0.0:1.0	.	764;742	B7ZLH8;Q92817	.;EVPL_HUMAN	G	742	ENSP00000301607:E742G	ENSP00000301607:E742G	E	-	2	0	EVPL	71522250	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	7.551000	0.82182	2.154000	0.67381	0.459000	0.35465	GAG		0.652	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		14	57	0	0	0	1	0	14	57				
SLC44A2	57153	broad.mit.edu	37	19	10742824	10742824	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr19:10742824T>A	ENST00000335757.5	+	10	1191	c.815T>A	c.(814-816)cTg>cAg	p.L272Q	SLC44A2_ENST00000407327.4_Missense_Mutation_p.L270Q|SLC44A2_ENST00000586078.1_Missense_Mutation_p.L272Q			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	272					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	ATTCTGGTGCTGGGCTACGGT	0.542																																						ENST00000586078.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(814-816)cTg>cAg		solute carrier family 44 (choline transporter), member 2	Choline(DB00122)						228.0	194.0	205.0					19																	10742824		2203	4300	6503	SO:0001583	missense	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10742824T>A	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.815T>A	19.37:g.10742824T>A	ENSP00000336888:p.Leu272Gln					SLC44A2_ENST00000407327.4_Missense_Mutation_p.L270Q|SLC44A2_ENST00000335757.5_Missense_Mutation_p.L272Q	p.L272Q	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		10	924	+			272					B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	37	c.815T>A	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	T	19.15	3.771848	0.69992	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.13307	2.6;2.6	5.05	5.05	0.67936	.	0.134891	0.48286	D	0.000197	T	0.27278	0.0669	L	0.50333	1.59	0.58432	D	0.99999	P;P	0.51240	0.905;0.943	P;P	0.58721	0.703;0.844	T	0.00778	-1.1570	10	0.52906	T	0.07	.	13.824	0.63340	0.0:0.0:0.0:1.0	.	272;270	Q8IWA5;Q8IWA5-3	CTL2_HUMAN;.	Q	270;272;272	ENSP00000385135:L270Q;ENSP00000336888:L272Q	ENSP00000336888:L272Q	L	+	2	0	SLC44A2	10603824	1.000000	0.71417	0.994000	0.49952	0.447000	0.32167	7.508000	0.81686	1.915000	0.55452	0.445000	0.29226	CTG		0.542	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			47	116	0	0	0	1	0	47	116				
NOC2L	26155	broad.mit.edu	37	1	886508	886508	+	Splice_Site	DEL	T	T	-			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:886508delT	ENST00000327044.6	-	12	1491	c.1442delA	c.(1441-1443)gag>gg	p.E481fs		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	481					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTCACTCACCTCCAGGATGAA	0.657																																						ENST00000327044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16						c.e12+1		nucleolar complex associated 2 homolog (S. cerevisiae)							42.0	35.0	37.0					1																	886508		2185	4283	6468	SO:0001630	splice_region_variant	26155					nucleolus	protein binding	g.chr1:886508delT	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.1443+1A>-	1.37:g.886508delT							p.E481_splice	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	12	1491	-	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	481					Q5SVA3|Q9BTN6	Splice_Site	DEL	ENST00000327044.6	37	c.1443_splice	CCDS3.1																																																																																				0.657	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658	Frame_Shift_Del	2	4						2	4	---	---	---	---
AKR7L	246181	broad.mit.edu	37	1	19596945	19596946	+	RNA	INS	-	-	TGG			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:19596945_19596946insTGG	ENST00000429712.1	-	0	625_626				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CGGCCCTCACCTGGTACACAGT	0.619																																						ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like																																						246181							g.chr1:19596945_19596946insTGG			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19596946_19596948dupTGG						AKR7L_ENST00000429712.1_RNA								0	505_506	-								Q5U614	RNA	INS	ENST00000429712.1	37																																																																																						0.619	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		17	78						17	78	---	---	---	---
LRRC40	55631	broad.mit.edu	37	1	70639354	70639354	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr1:70639354delA	ENST00000370952.3	-	8	1095	c.1016delT	c.(1015-1017)ttgfs	p.L339fs		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	339						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TTCTAATGCCAAAAATTTCAA	0.294																																						ENST00000370952.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						c.(1015-1017)tgfs		leucine rich repeat containing 40							30.0	29.0	30.0					1																	70639354		2198	4287	6485	SO:0001589	frameshift_variant	55631							g.chr1:70639354delA		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1016delT	1.37:g.70639354delA	ENSP00000359990:p.Leu339fs						p.L339fs	NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN			8	1095	-			339					Q9BTR7|Q9NSK1|Q9NXC1	Frame_Shift_Del	DEL	ENST00000370952.3	37	c.1016delT	CCDS646.1																																																																																				0.294	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768		2	4						2	4	---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168179996	168179996	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr5:168179996delG	ENST00000519560.1	-	18	2356	c.1937delC	c.(1936-1938)cctfs	p.P646fs	SLIT3_ENST00000332966.8_Frame_Shift_Del_p.P646fs|SLIT3_ENST00000404867.3_Frame_Shift_Del_p.P646fs	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	646					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAGGCCCCAGGGGTGATGGT	0.577																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1936-1938)ctfs		slit homolog 3 (Drosophila)							136.0	98.0	111.0					5																	168179996		2203	4300	6503	SO:0001589	frameshift_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168179996delG	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1937delC	5.37:g.168179996delG	ENSP00000430333:p.Pro646fs					SLIT3_ENST00000404867.3_Frame_Shift_Del_p.P646fs|SLIT3_ENST00000332966.8_Frame_Shift_Del_p.P646fs	p.P646fs	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		18	2356	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	646					A6H8U9|J3KNP3|O95804|Q9UFH5	Frame_Shift_Del	DEL	ENST00000519560.1	37	c.1937delC	CCDS4369.1																																																																																				0.577	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		16	48						16	48	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176638999	176639006	+	Frame_Shift_Del	DEL	GGGATGAG	GGGATGAG	-			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr5:176638999_176639006delGGGATGAG	ENST00000439151.2	+	5	3644_3651	c.3599_3606delGGGATGAG	c.(3598-3606)cgggatgagfs	p.RDE1200fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.RDE1097fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.RDE931fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.RDE931fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1200					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAGGAGGGGCGGGATGAGTTTCCAGAGC	0.476			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(3598-3606)cfs		nuclear receptor binding SET domain protein 1																																				SO:0001589	frameshift_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176638999_176639006delGGGATGAG	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3599_3606delGGGATGAG	5.37:g.176638999_176639006delGGGATGAG	ENSP00000395929:p.Arg1200fs	HNSCC(47;0.14)				NSD1_ENST00000347982.4_Frame_Shift_Del_p.RDE931fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.RDE931fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.RDE1097fs	p.RDE1200fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	3644_3651	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1200					Q96PD8|Q96RN7	Frame_Shift_Del	DEL	ENST00000439151.2	37	c.3599_3606delGGGATGAG	CCDS4412.1																																																																																				0.476	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		16	74						16	74	---	---	---	---
RUSC2	9853	broad.mit.edu	37	9	35560102	35560104	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:35560102_35560104delGCT	ENST00000455600.1	+	10	4034_4036	c.3465_3467delGCT	c.(3463-3468)gagctg>gag	p.L1160del	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1160	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TCTTTGAAGAGCTGCTGCTGCTG	0.616																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3463-3468)gag>ga		RUN and SH3 domain containing 2																																				SO:0001651	inframe_deletion	9853					cytosol		g.chr9:35560102_35560104delGCT	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3465_3467delGCT	9.37:g.35560111_35560113delGCT	ENSP00000393922:p.Leu1160del						p.EL1155del	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		10	4034_4036	+			1155			RUN.		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	In_Frame_Del	DEL	ENST00000455600.1	37	c.3465_3467delGCT	CCDS35008.1																																																																																				0.616	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		7	620						7	620	---	---	---	---
CIZ1	25792	broad.mit.edu	37	9	130953109	130953111	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr9:130953109_130953111delGCT	ENST00000393608.1	-	2	228_230	c.26_28delAGC	c.(25-30)cagctc>ctc	p.Q9del	CIZ1_ENST00000372954.1_In_Frame_Del_p.Q9del|CIZ1_ENST00000541172.1_5'UTR|CIZ1_ENST00000277465.4_In_Frame_Del_p.Q9del|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000538431.1_In_Frame_Del_p.Q9del|CIZ1_ENST00000357558.5_In_Frame_Del_p.Q9del|CIZ1_ENST00000372938.5_In_Frame_Del_p.Q9del|CIZ1_ENST00000325721.8_In_Frame_Del_p.Q9del|CIZ1_ENST00000372948.3_In_Frame_Del_p.Q9del	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	9	Gln-rich.			Missing (in Ref. 7; AAF23231). {ECO:0000305}.	maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						tgttgctggagctgctgctgctg	0.611																																						ENST00000538431.1																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						c.(25-30)ctc>c		CDKN1A interacting zinc finger protein 1			,,,,	114,3828		2,110,1859					,,,,	1.9	0.9			11	280,7402		13,254,3574	no	coding,coding,coding,coding,coding	CIZ1	NM_012127.2,NM_001131018.1,NM_001131017.1,NM_001131016.1,NM_001131015.1	,,,,	15,364,5433	A1A1,A1R,RR		3.6449,2.8919,3.3895	,,,,	,,,,		394,11230				SO:0001651	inframe_deletion	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130953109_130953111delGCT	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.26_28delAGC	9.37:g.130953118_130953120delGCT	ENSP00000377232:p.Gln9del					CIZ1_ENST00000357558.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000393608.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000372948.3_In_Frame_Del_p.QL9del|CIZ1_ENST00000541172.1_5'UTR|CIZ1_ENST00000372954.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000372938.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000325721.8_In_Frame_Del_p.QL9del|CIZ1_ENST00000277465.4_In_Frame_Del_p.QL9del	p.QL9del	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN			2	273_275	-			9	Missing (in Ref. 7; AAF23231).		Gln-rich.		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	In_Frame_Del	DEL	ENST00000393608.1	37	c.26_28delAGC	CCDS6894.1																																																																																				0.611	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		3	3						3	3	---	---	---	---
FAM101A	144347	broad.mit.edu	37	12	124762486	124762488	+	IGR	DEL	CCT	CCT	-	rs557871248|rs56853585	byFrequency	TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr12:124762486_124762488delCCT								FAM101A (42338 upstream) : FAM101A (11221 downstream)																							tctccacccccctcctcctcctc	0.596																																						ENST00000540762.1																			0																																																	SO:0001628	intergenic_variant	144347							g.chr12:124762486_124762488delCCT																													12.37:g.124762495_124762497delCCT														0	444	+									RNA	DEL		37																																																																																					0	0.596									2	4						2	4	---	---	---	---
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs10569304	byFrequency	TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtgccg>gtg	p.P299del	TMEM121_ENST00000431372.1_In_Frame_Del_p.P299del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	299	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768														2057	0.410743	0.7292	0.219	5008	,	,		12737	0.501		0.2545	False		,,,				2504	0.184					ENST00000392519.2																			0				endometrium(2)|lung(1)	3						c.(877-882)gtg>gt		transmembrane protein 121				304,182		142,20,81						1.9	1.0		dbSNP_119	2	455,1007		182,91,458	no	coding	TMEM121	NM_025268.2		324,111,539	A1A1,A1R,RR		31.1218,37.4486,38.963				759,1189				SO:0001651	inframe_deletion	80757					integral to membrane		g.chr14:105996050_105996052delGCC		CCDS10006.1	14q32.33	2006-02-16			ENSG00000184986	ENSG00000184986			20511	protein-coding gene	gene with protein product						12204283	Standard	NM_025268		Approved	MGC4659, hole	uc001yrp.1	Q9BTD3	OTTHUMG00000029912	ENST00000392519.2:c.879_881delGCC	14.37:g.105996059_105996061delGCC	ENSP00000376304:p.Pro299del					TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del	p.VP293del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)	2	1043_1045	+		Melanoma(154;0.226)	293			Pro-rich.			In_Frame_Del	DEL	ENST00000392519.2	37	c.879_881delGCC	CCDS10006.1																																																																																				0.768	TMEM121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074621.2	NM_025268		3	6						3	6	---	---	---	---
LOC63930	63930	broad.mit.edu	37	20	61680569	61680570	+	lincRNA	DEL	CC	CC	-	rs374164002|rs372563748		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chr20:61680569_61680570delCC	ENST00000607802.1	+	0	91				LINC01056_ENST00000455711.1_lincRNA	NR_033370.1																						tcctcttcctcccctcctcctc	0.614																																						ENST00000607802.1																			0																																																			63930							g.chr20:61680569_61680570delCC																													20.37:g.61680571_61680572delCC						RP11-305P22.5_ENST00000455711.1_lincRNA		NR_033370.1						0	91	+									RNA	DEL	ENST00000607802.1	37																																																																																						0.614	RP11-305P22.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470475.1			2	4						2	4	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50165595	50165596	+	RNA	INS	-	-	AC	rs59226442|rs72026364		TCGA-BA-A6DL-01A-21D-A30E-08	TCGA-BA-A6DL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6971a7d-7ac5-4da2-8443-dcc8b7839c14	71daa69b-c3b0-4792-a78d-44c63db445f1	g.chrX:50165595_50165596insAC	ENST00000376025.2	-	0	816							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTAAAAGGTAAacacacacaca	0.411														797	0.211126	0.1422	0.1383	3775	,	,		11957	0.2083		0.161	False		,,,				2504	0.1442					ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa																																						139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50165595_50165596insAC	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50165604_50165605dupAC										Q5KSL6	DGKK_HUMAN			0	816	-	Ovarian(276;0.236)							B2RP91	RNA	INS	ENST00000376025.2	37																																																																																						0.411	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		3	6						3	6	---	---	---	---
